[1]	NUCLEOTIDE SEQUENCE [MRNA]. DOI=10.1006/geno.1997.4820; PubMed=9268641 [NCBI, ExPASy, EBI, Israel, Japan] Oda T., Elkahloun A.G., Meltzer P.S., Chandrasekharappa S.C.; "Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12."; Genomics 43:376-379(1997).
[2]	NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ALGS1 CYS-184. TISSUE=Bone marrow; DOI=10.1038/ng0797-243; PubMed=9207788 [NCBI, ExPASy, EBI, Israel, Japan] Li L., Krantz I.D., Deng Y., Genin A., Banta A.B., Collins C.C., Qi M., Trask B.J., Kuo W.L., Cochran J., Costa T., Pierpont M.E.M., Rand E.B., Piccoli D.A., Hood L., Spinner N.B.; "Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1."; Nat. Genet. 16:243-251(1997).
[3]	NUCLEOTIDE SEQUENCE [MRNA], AND FUNCTION. DOI=10.1016/S1074-7613(00)80457-4; PubMed=9462510 [NCBI, ExPASy, EBI, Israel, Japan] Li L., Milner L.A., Deng Y., Iwata M., Banta A.B., Graf L., Marcovina S., Friedman C., Trask B.J., Hood L., Torok-Storb B.; "The human homolog of rat Jagged1 expressed by marrow stroma inhibits differentiation of 32D cells through interaction with Notch1."; Immunity 8:43-55(1998).
[4]	NUCLEOTIDE SEQUENCE [MRNA]. TISSUE=Cervix carcinoma; DOI=10.1093/emboj/18.10.2803; PubMed=10329626 [NCBI, ExPASy, EBI, Israel, Japan] Bash J., Zong W.-X., Banga S., Rivera A., Ballard D.W., Ron Y., Gelinas C.; "Rel/NF-kappaB can trigger the Notch signaling pathway by inducing the expression of Jagged1, a ligand for Notch receptors."; EMBO J. 18:2803-2811(1999).
[5]	NUCLEOTIDE SEQUENCE [MRNA]. PubMed=10079256 [NCBI, ExPASy, EBI, Israel, Japan] Gray G.E., Mann R.S., Mitsiadis E., Henrique D., Carcangiu M.-L., Banks A., Leiman J., Ward D., Ish-Horowitz D., Artavanis-Tsakonas S.; "Human ligands of the Notch receptor."; Am. J. Pathol. 154:785-794(1999).
[6]	NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. DOI=10.1038/414865a; PubMed=11780052 [NCBI, ExPASy, EBI, Israel, Japan] Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.; "The DNA sequence and comparative analysis of human chromosome 20."; Nature 414:865-871(2001).
[7]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. TISSUE=Brain; DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[8]	NUCLEOTIDE SEQUENCE [MRNA] OF 14-1218. TISSUE=Umbilical vein endothelial cell; DOI=10.1074/jbc.271.51.32499; PubMed=8955070 [NCBI, ExPASy, EBI, Israel, Japan] Zimrin A.B., Pepper M.S., McMahon G.A., Nguyen F., Montesano R., Maciag T.; "An antisense oligonucleotide to the notch ligand Jagged enhances fibroblast growth factor-induced angiogenesis in vitro."; J. Biol. Chem. 271:32499-32502(1996).
[9]	DISEASE. DOI=10.1038/ng0797-235; PubMed=9207787 [NCBI, ExPASy, EBI, Israel, Japan] Oda T., Elkahloun A.G., Pike B.L., Okajima K., Krantz I.D., Genin A., Piccoli D.A., Meltzer P.S., Spinner N.B., Collins F.S., Chandrasekharappa S.C.; "Mutations in the human Jagged1 gene are responsible for Alagille syndrome."; Nat. Genet. 16:235-242(1997).
[10]	DEVELOPMENTAL STAGE. DOI=10.1136/jmg.37.9.658; PubMed=10978356 [NCBI, ExPASy, EBI, Israel, Japan] Jones E.A., Clement-Jones M., Wilson D.I.; "JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype."; J. Med. Genet. 37:658-662(2000).
[11]	VARIANTS ALGS1 CYS-184 AND HIS-184. DOI=10.1086/301875; PubMed=9585603 [NCBI, ExPASy, EBI, Israel, Japan] Krantz I.D., Colliton R.P., Genin A., Rand E.B., Li L., Piccoli D.A., Spinner N.B.; "Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families."; Am. J. Hum. Genet. 62:1361-1369(1998).
[12]	VARIANTS ALGS1 HIS-79; THR-127; ARG-129; LEU-163; GLY-184; SER-187; GLY-229; PHE-284; CYS-288; PHE-438; SER-731 AND ARG-740. PubMed=10220506 [NCBI, ExPASy, EBI, Israel, Japan] Crosnier C., Driancourt C., Raynaud N., Dhorne-Pollet S., Pollet N., Bernard O., Hadchouel M., Meunier-Rotival M.; "Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome."; Gastroenterology 116:1141-1148(1999).
[13]	VARIANTS ALGS1 THR-152 AND LEU-184. DOI=10.1002/(SICI)1098-1004(199911)14:5<394::AID-HUMU5>3.0.CO;2-1; PubMed=10533065 [NCBI, ExPASy, EBI, Israel, Japan] Pilia G., Uda M., Macis D., Frau F., Crisponi L., Balli F., Barbera C., Colombo C., Frediani T., Gatti R., Iorio R., Marazzi M.G., Marcellini M., Musumeci S., Nebbia G., Vajro P., Ruffa G., Zancan L., Cao A., DeVirgilis S.; "Jagged-1 mutation analysis in Italian Alagille syndrome patients."; Hum. Mutat. 14:394-400(1999).
[14]	VARIANTS ALGS1 TYR-229 AND ARG-386. DOI=10.1002/1098-1004(200011)16:5<408::AID-HUMU5>3.0.CO;2-9; PubMed=11058898 [NCBI, ExPASy, EBI, Israel, Japan] Heritage M.L., MacMillan J.C., Colliton R.P., Genin A., Spinner N.B., Anderson G.J.; "Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population."; Hum. Mutat. 16:408-416(2000).
[15]	VARIANT TOF ASP-274. DOI=10.1093/hmg/10.2.163; PubMed=11152664 [NCBI, ExPASy, EBI, Israel, Japan] Eldadah Z.A., Hamosh A., Biery N.J., Montgomery R.A., Duke M., Elkins R., Dietz H.C.; "Familial tetralogy of Fallot caused by mutation in the Jagged1 gene."; Hum. Mol. Genet. 10:163-169(2001).
[16]	VARIANT ALGS1 SER-37. DOI=10.1093/hmg/10.4.405; PubMed=11157803 [NCBI, ExPASy, EBI, Israel, Japan] Morrissette J.J.D., Colliton R.P., Spinner N.B.; "Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome."; Hum. Mol. Genet. 10:405-413(2001).
[17]	VARIANTS ALGS1 PHE-220 AND ARG-753. DOI=10.1002/1098-1004(2001)17:1<72::AID-HUMU11>3.0.CO;2-U; PubMed=11139247 [NCBI, ExPASy, EBI, Israel, Japan] Crosnier C., Driancourt C., Raynaud N., Hadchouel M., Meunier-Rotival M.; "Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome."; Hum. Mutat. 17:72-73(2001).
[18]	VARIANTS ALGS1 ASP-33; SER-37; SER-78; ASN-181; TYR-714 AND SER-902. DOI=10.1002/1098-1004(200102)17:2<151::AID-HUMU8>3.3.CO;2-K; PubMed=11180599 [NCBI, ExPASy, EBI, Israel, Japan] Colliton R.P., Bason L., Lu F.-M., Piccoli D.A., Krantz I.D., Spinner N.B.; "Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients."; Hum. Mutat. 17:151-152(2001).
[19]	VARIANT DEAFNESS TYR-234. DOI=10.1086/341327; PubMed=12022040 [NCBI, ExPASy, EBI, Israel, Japan] Le Caignec C., Lefevre M., Schott J.J., Chaventre A., Gayet M., Calais C., Moisan J.P.; "Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of Jagged 1."; Am. J. Hum. Genet. 71:180-186(2002).
[20]	VARIANTS BILIARY ATRESIA LEU-45; ASP-53; MET-65; LYS-203; ASP-690; ARG-871; GLN-908; PRO-921 AND GLN-1213. DOI=10.1053/jhep.2002.35820; PubMed=12297837 [NCBI, ExPASy, EBI, Israel, Japan] Kohsaka T., Yuan Z.-R., Guo S.-X., Tagawa M., Nakamura A., Nakano M., Kawasasaki H., Inomata Y., Tanaka K., Miyauchi J.; "The significance of human Jagged 1 mutations detected in severe cases of extrahepatic biliary atresia."; Hepatology 36:904-912(2002).
[21]	VARIANTS ALGS1 SER-39; HIS-184 AND ARG-913. DOI=10.1002/humu.9095; PubMed=12442286 [NCBI, ExPASy, EBI, Israel, Japan] Heritage M.L., MacMillan J.C., Anderson G.J.; "DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian Alagille syndrome patients."; Hum. Mutat. 20:481-481(2002).
[22]	CHARACTERIZATION OF VARIANT ASP-274. DOI=10.1086/374386; PubMed=12649809 [NCBI, ExPASy, EBI, Israel, Japan] Lu F., Morrissette J.J.D., Spinner N.B.; "Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage."; Am. J. Hum. Genet. 72:1065-1070(2003).
[23]	VARIANTS ALGS1 VAL-31; PRO-40; SER-75; SER-123; ARG-163; CYS-224; LEU-269 AND GLN-937. DOI=10.1002/humu.9102; PubMed=12497640 [NCBI, ExPASy, EBI, Israel, Japan] Roepke A., Kujat A., Graeber M., Giannakudis J., Hansmann I.; "Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome."; Hum. Mutat. 21:100-100(2003).
[24]	VARIANTS ALGS1 ASN-120 AND TYR-187. DOI=10.1002/humu.9313; PubMed=15712272 [NCBI, ExPASy, EBI, Israel, Japan] Jurkiewicz D., Popowska E., Glaeser C., Hansmann I., Krajewska-Walasek M.; "Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients."; Hum. Mutat. 25:321-321(2005).
[25]	VARIANTS ALGS1 22-CYS--ARG-25 DEL; SER-33; VAL-33; ARG-92; TYR-92; PRO-155; GLY-252; SER-256; ARG-271; SER-504; TYR-693; GLN-889; TYR-911 AND 1055-VAL-ARG-1056 GLY DELINS, AND VARIANT LYS-818. DOI=10.1002/humu.20310; PubMed=16575836 [NCBI, ExPASy, EBI, Israel, Japan] Warthen D.M., Moore E.C., Kamath B.M., Morrissette J.J.D., Sanchez P., Piccoli D.A., Krantz I.D., Spinner N.B.; "Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate."; Hum. Mutat. 27:436-443(2006).

Comments

FUNCTION: Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro).
SUBUNIT: Interacts with NOTCH1, NOTCH2 and NOTCH3 (By similarity).
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. In cervix epithelium expressed in undifferentiated subcolumnar reserve cells and squamous metaplasia. Expression is up-regulated in cervical squamous cell carcinoma. Expressed in bone marrow cell line HS-27a which supports the long-term maintenance of immature progenitor cells.
DEVELOPMENTAL STAGE: Expressed in 32-52 days embryos in the distal cardiac outflow tract and pulmonary artery, major arteries, portal vein, optic vesicle, otocyst, branchial arches, metanephros, pancreas, mesocardium, around the major bronchial branches, and in the neural tube.
DISEASE: Defects in JAG1 are the cause of Alagille syndrome type 1 (ALGS1) [MIM:118450]. Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.
DISEASE: Defects in JAG1 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. This condition results in a blue baby at birth due to inadequate oxygenation. Surgical correction is emergent.
DISEASE: The mutation Asp-274 is "leaky". Two populations of proteins are produced from this allele. One population is abnormally glycosylated and is retained intracellularly rather than being transported to the cell surface. A second population is normally glycosylated and is transported to the cell surface, where it is able to signal to the Notch receptor. The Asp-274 protein is temperature sensitive, with more abnormally glycosylated (and nonfunctional) molecules produced at higher temperatures. Carriers of this mutation therefore have more than 50% but less than 100% of the normal concentration of molecules on the cell surface. The cardiac-specific phenotype associated with this mutation suggests that the developing heart is more sensitive than the developing liver to decreased dosage of JAG1 protein.
SIMILARITY: Contains 1 DSL domain.
SIMILARITY: Contains 15 EGF-like domains.
SEQUENCE CAUTION:
- Sequence=AAC51323.1; Type=Frameshift; Positions=1187;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/JAG1ID41029ch20p12.html";.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=JAG1";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

AF003837; AAC51731.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U73936; AAC52020.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF028593; AAB84053.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U61276; AAB39007.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AL035456; CAC07198.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC126205; AAI26206.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC126207; AAI26208.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U77720; AAC51323.1; ALT_FRAME; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI00099650; -.

NP_000205.1; -.

3D structure databases

PDB

2VJ2; X-ray; 2.50 A; A/B=185-335.

[ExPASy / RCSB / EBI]

2VJ2; -.

DP00418; -.

PTM databases

P78504; -.

Enzyme and pathway databases

Reactome

REACT_299; Signaling by Notch.

Organism-specific databases

GC20M010566; -.

HIX0040494; -.

HGNC:6188; JAG1.

CAB010343; -.

118450; phenotype. [NCBI / EBI]
187500; phenotype. [NCBI / EBI]
601920; gene+phenotype. [NCBI / EBI]

Orphanet

52; Alagille syndrome.
3303; Tetralogy of Fallot.

PharmGKB

PA29986; -.

Gene expression databases

P78504; -.

P78504; -.

HS_JAG1; -.

ENSG00000101384; Homo sapiens.

Ontologies

GO:0005576;	Cellular component: extracellular region (non-traceable author statement from UniProtKB).
GO:0005887;	Cellular component: integral to plasma membrane (non-traceable author statement from UniProtKB).
GO:0005509;	Molecular function: calcium ion binding (non-traceable author statement from UniProtKB).
GO:0008083;	Molecular function: growth factor activity (non-traceable author statement from UniProtKB).
GO:0005112;	Molecular function: Notch binding (non-traceable author statement from UniProtKB).
GO:0005198;	Molecular function: structural molecule activity (non-traceable author statement from UniProtKB).
GO:0001525;	Biological process: angiogenesis (non-traceable author statement from UniProtKB).
GO:0001709;	Biological process: cell fate determination (non-traceable author statement from UniProtKB).
GO:0045446;	Biological process: endothelial cell differentiation (non-traceable author statement from UniProtKB).
GO:0030097;	Biological process: hemopoiesis (non-traceable author statement from UniProtKB).
GO:0030216;	Biological process: keratinocyte differentiation (non-traceable author statement from UniProtKB).
GO:0045445;	Biological process: myoblast differentiation (non-traceable author statement from UniProtKB).
GO:0007219;	Biological process: Notch signaling pathway (non-traceable author statement from UniProtKB).
GO:0030334;	Biological process: regulation of cell migration (non-traceable author statement from UniProtKB).
GO:0042127;	Biological process: regulation of cell proliferation (non-traceable author statement from UniProtKB).
QuickGo view.

Family and domain databases

InterPro

IPR001774; DSL.
IPR006209; EGF.
IPR006210; EGF-like.
IPR013032; EGF-like_reg_CS.
IPR000152; EGF-type_Asp/Asn_hydroxyl_CS.
IPR001438; EGF_2.
IPR000742; EGF_3.
IPR001881; EGF_Ca_bd.
IPR018097; EGF_Ca_bd_CS.
IPR011651; Notch_ligand_N.
IPR001007; VWF_C.
Graphical view of domain structure.

Pfam

PF01414; DSL; 1.
PF00008; EGF; 12.
PF07657; MNNL; 1.
Pfam graphical view of domain structure.

PRINTS

PR00010; EGFBLOOD.

SMART

SM00051; DSL; 1.
SM00181; EGF; 6.
SM00179; EGF_CA; 10.
SM00214; VWC; 1.
SMART graphical view of domain structure.

PROSITE

PS00010; ASX_HYDROXYL; 10.
PS51051; DSL; 1.
PS00022; EGF_1; 16.
PS01186; EGF_2; 12.
PS50026; EGF_3; 15.
PS01187; EGF_CA; 8.
PROSITE graphical view of domain structure (profiles).

Proteomic databases

PeptideAtlas

P78504; -.

PRIDE

P78504; -.

Genome annotation databases

Ensembl

ENSG00000101384; Homo sapiens. [Contig view]

GeneID

182; -.

KEGG

hsa:182; -.

Phylogenomic databases

HOGENOM

P78504; -.

HOVERGEN

P78504; -.

OMA

P78504; RYISSNV.

Other

744; -.

JAG1; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

3D-structure; Calcium; Developmental protein; Disease mutation; Disulfide bond; EGF-like domain; Glycoprotein; Membrane; Notch signaling pathway; Polymorphism; Repeat; Signal; Transmembrane.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`SIGNAL`	`1 33`	`33`	`Potential.`
`CHAIN`	`34 1218`	`1185`	`Protein jagged-1.`	`PRO_0000007625`
`TOPO_DOM`	`34 1067`	`1034`	`Extracellular (Potential).`
`TRANSMEM`	`1068 1093`	`26`	`Potential.`
`TOPO_DOM`	`1094 1218`	`125`	`Cytoplasmic (Potential).`
`DOMAIN`	`185 229`	`45`	`DSL.`
`DOMAIN`	`230 266`	`37`	`EGF-like 1; atypical.`
`DOMAIN`	`296 334`	`39`	`EGF-like 2.`
`DOMAIN`	`336 372`	`37`	`EGF-like 3.`
`DOMAIN`	`374 410`	`37`	`EGF-like 4; calcium-binding (Potential).`
`DOMAIN`	`412 448`	`37`	`EGF-like 5; calcium-binding (Potential).`
`DOMAIN`	`450 485`	`36`	`EGF-like 6; calcium-binding (Potential).`
`DOMAIN`	`487 523`	`37`	`EGF-like 7; calcium-binding (Potential).`
`DOMAIN`	`525 561`	`37`	`EGF-like 8.`
`DOMAIN`	`574 627`	`54`	`EGF-like 9.`
`DOMAIN`	`629 665`	`37`	`EGF-like 10; calcium-binding (Potential).`
`DOMAIN`	`667 703`	`37`	`EGF-like 11; calcium-binding (Potential).`
`DOMAIN`	`705 741`	`37`	`EGF-like 12.`
`DOMAIN`	`744 780`	`37`	`EGF-like 13.`
`DOMAIN`	`782 818`	`37`	`EGF-like 14; calcium-binding (Potential).`
`DOMAIN`	`820 856`	`37`	`EGF-like 15; calcium-binding (Potential).`
`CARBOHYD`	`143 143`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`217 217`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`382 382`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`559 559`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`745 745`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`960 960`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`991 991`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`1045 1045`		`N-linked (GlcNAc...) (Potential).`
`CARBOHYD`	`1064 1064`		`N-linked (GlcNAc...) (Potential).`
`DISULFID`	`234 245`		`By similarity.`
`DISULFID`	`238 251`		`By similarity.`
`DISULFID`	`253 262`		`By similarity.`
`DISULFID`	`300 312`		`By similarity.`
`DISULFID`	`306 322`		`By similarity.`
`DISULFID`	`324 333`		`By similarity.`
`DISULFID`	`340 351`		`By similarity.`
`DISULFID`	`345 360`		`By similarity.`
`DISULFID`	`362 371`		`By similarity.`
`DISULFID`	`378 389`		`By similarity.`
`DISULFID`	`383 398`		`By similarity.`
`DISULFID`	`400 409`		`By similarity.`
`DISULFID`	`416 427`		`By similarity.`
`DISULFID`	`421 436`		`By similarity.`
`DISULFID`	`438 447`		`By similarity.`
`DISULFID`	`454 464`		`By similarity.`
`DISULFID`	`458 473`		`By similarity.`
`DISULFID`	`475 484`		`By similarity.`
`DISULFID`	`491 502`		`By similarity.`
`DISULFID`	`496 511`		`By similarity.`
`DISULFID`	`513 522`		`By similarity.`
`DISULFID`	`529 540`		`By similarity.`
`DISULFID`	`534 549`		`By similarity.`
`DISULFID`	`551 560`		`By similarity.`
`DISULFID`	`578 605`		`By similarity.`
`DISULFID`	`599 615`		`By similarity.`
`DISULFID`	`617 626`		`By similarity.`
`DISULFID`	`633 644`		`By similarity.`
`DISULFID`	`638 653`		`By similarity.`
`DISULFID`	`655 664`		`By similarity.`
`DISULFID`	`671 682`		`By similarity.`
`DISULFID`	`676 691`		`By similarity.`
`DISULFID`	`693 702`		`By similarity.`
`DISULFID`	`709 720`		`By similarity.`
`DISULFID`	`714 729`		`By similarity.`
`DISULFID`	`731 740`		`By similarity.`
`DISULFID`	`748 759`		`By similarity.`
`DISULFID`	`753 768`		`By similarity.`
`DISULFID`	`770 779`		`By similarity.`
`DISULFID`	`786 797`		`By similarity.`
`DISULFID`	`791 806`		`By similarity.`
`DISULFID`	`808 817`		`By similarity.`
`DISULFID`	`824 835`		`By similarity.`
`DISULFID`	`829 844`		`By similarity.`
`DISULFID`	`846 855`		`By similarity.`
`VARIANT`	`22 25`	`4`	`Missing (in ALGS1).`	`VAR_026296`
`VARIANT`	`31 31`	`1`	`A -> V (in ALGS1).`	`VAR_026297`
`VARIANT`	`33 33`	`1`	`G -> D (in ALGS1).`	`VAR_026298`
`VARIANT`	`33 33`	`1`	`G -> S (in ALGS1).`	`VAR_026299`
`VARIANT`	`33 33`	`1`	`G -> V (in ALGS1).`	`VAR_026300`
`VARIANT`	`37 37`	`1`	`L -> S (in ALGS1).`	`VAR_013186`
`VARIANT`	`39 39`	`1`	`I -> S (in ALGS1).`	`VAR_026301`
`VARIANT`	`40 40`	`1`	`L -> P (in ALGS1).`	`VAR_026302`
`VARIANT`	`45 45`	`1`	`V -> L (in biliary atresia; extrahepatic).`	`VAR_026303`
`VARIANT`	`53 53`	`1`	`N -> D (in biliary atresia; extrahepatic).`	`VAR_026304`
`VARIANT`	`65 65`	`1`	`K -> M (in biliary atresia; extrahepatic).`	`VAR_026305`
`VARIANT`	`75 75`	`1`	`F -> S (in ALGS1).`	`VAR_026306`
`VARIANT`	`78 78`	`1`	`C -> S (in ALGS1).`	`VAR_026307`
`VARIANT`	`79 79`	`1`	`L -> H (in ALGS1).`	`VAR_013187`
`VARIANT`	`92 92`	`1`	`C -> R (in ALGS1).`	`VAR_026308`
`VARIANT`	`92 92`	`1`	`C -> Y (in ALGS1).`	`VAR_026309`
`VARIANT`	`120 120`	`1`	`I -> N (in ALGS1).`	`VAR_026310`
`VARIANT`	`123 123`	`1`	`P -> S (in ALGS1).`	`VAR_026311`
`VARIANT`	`127 127`	`1`	`A -> T (in ALGS1).`	`VAR_013188`
`VARIANT`	`129 129`	`1`	`P -> R (in ALGS1).`	`VAR_013189`
`VARIANT`	`146 146`	`1`	`V -> I (in dbSNP:rs6040067 [NCBI]).`	`VAR_048985`
`VARIANT`	`152 152`	`1`	`I -> T (in ALGS1).`	`VAR_013190`
`VARIANT`	`155 155`	`1`	`A -> P (in ALGS1).`	`VAR_026312`
`VARIANT`	`163 163`	`1`	`P -> L (in ALGS1).`	`VAR_013191`
`VARIANT`	`163 163`	`1`	`P -> R (in ALGS1).`	`VAR_026313`
`VARIANT`	`181 181`	`1`	`Y -> N (in ALGS1).`	`VAR_026314`
`VARIANT`	`184 184`	`1`	`R -> C (in ALGS1).`	`VAR_013192`
`VARIANT`	`184 184`	`1`	`R -> G (in ALGS1).`	`VAR_013193`
`VARIANT`	`184 184`	`1`	`R -> H (in ALGS1).`	`VAR_013194`
`VARIANT`	`184 184`	`1`	`R -> L (in ALGS1).`	`VAR_013195`
`VARIANT`	`187 187`	`1`	`C -> S (in ALGS1).`	`VAR_013196`
`VARIANT`	`187 187`	`1`	`C -> Y (in ALGS1).`	`VAR_026315`
`VARIANT`	`203 203`	`1`	`R -> K (in biliary atresia; extrahepatic).`	`VAR_026316`
`VARIANT`	`220 220`	`1`	`C -> F (in ALGS1).`	`VAR_013197`
`VARIANT`	`224 224`	`1`	`W -> C (in ALGS1).`	`VAR_026317`
`VARIANT`	`229 229`	`1`	`C -> G (in ALGS1).`	`VAR_013198`
`VARIANT`	`229 229`	`1`	`C -> Y (in ALGS1).`	`VAR_013199`
`VARIANT`	`234 234`	`1`	`C -> Y (in deafness; with congenital heart defects and posterior embryotoxon).`	`VAR_026318`
`VARIANT`	`252 252`	`1`	`R -> G (in ALGS1).`	`VAR_026319`
`VARIANT`	`256 256`	`1`	`G -> S (in ALGS1).`	`VAR_026320`
`VARIANT`	`269 269`	`1`	`P -> L (in ALGS1).`	`VAR_026321`
`VARIANT`	`271 271`	`1`	`C -> R (in ALGS1).`	`VAR_026322`
`VARIANT`	`274 274`	`1`	`G -> D (in TOF; temperature sensitive mutation).`	`VAR_013200`
`VARIANT`	`284 284`	`1`	`C -> F (in ALGS1).`	`VAR_013201`
`VARIANT`	`288 288`	`1`	`W -> C (in ALGS1).`	`VAR_013202`
`VARIANT`	`386 386`	`1`	`G -> R (in ALGS1).`	`VAR_013203`
`VARIANT`	`438 438`	`1`	`C -> F (in ALGS1).`	`VAR_013204`
`VARIANT`	`504 504`	`1`	`N -> S (in ALGS1).`	`VAR_026323`
`VARIANT`	`690 690`	`1`	`Y -> D (in biliary atresia; extrahepatic).`	`VAR_026324`
`VARIANT`	`693 693`	`1`	`C -> Y (in ALGS1).`	`VAR_026325`
`VARIANT`	`714 714`	`1`	`C -> Y (in ALGS1).`	`VAR_026326`
`VARIANT`	`731 731`	`1`	`C -> S (in ALGS1).`	`VAR_013205`
`VARIANT`	`740 740`	`1`	`C -> R (in ALGS1).`	`VAR_013206`
`VARIANT`	`753 753`	`1`	`C -> R (in ALGS1).`	`VAR_013207`
`VARIANT`	`818 818`	`1`	`R -> K.`	`VAR_026327`
`VARIANT`	`871 871`	`1`	`P -> R (in biliary atresia; extrahepatic; could be a polymorphism).`	`VAR_026328`
`VARIANT`	`889 889`	`1`	`R -> Q (in ALGS1).`	`VAR_026329`
`VARIANT`	`902 902`	`1`	`C -> S (in ALGS1).`	`VAR_026330`
`VARIANT`	`908 908`	`1`	`H -> Q (in biliary atresia; extrahepatic).`	`VAR_026331`
`VARIANT`	`911 911`	`1`	`C -> Y (in ALGS1).`	`VAR_026332`
`VARIANT`	`913 913`	`1`	`S -> R (in ALGS1).`	`VAR_026333`
`VARIANT`	`921 921`	`1`	`L -> P (in biliary atresia; extrahepatic).`	`VAR_026334`
`VARIANT`	`937 937`	`1`	`R -> Q (in ALGS1).`	`VAR_026335`
`VARIANT`	`1055 1056`	`2`	`VR -> G (in ALGS1).`	`VAR_026336`
`VARIANT`	`1213 1213`	`1`	`R -> Q (in biliary atresia; extrahepatic).`	`VAR_026337`
`CONFLICT`	`117 117`		`R -> P (in Ref. 5; AAB39007).`
`CONFLICT`	`227 227`		`P -> R (in Ref. 1; AAC51731).`
`CONFLICT`	`498 498`		`N -> D (in Ref. 1; AAC51731).`

Sequence information

Length: 1218 AA [This is the length of the unprocessed precursor]

Molecular weight: 133799 Da [This is the MW of the unprocessed precursor]

CRC64: F36EE9FBF64DF162 [This is a checksum on the sequence]

        10         20         30         40         50         60 
MRSPRTRGRS GRPLSLLLAL LCALRAKVCG ASGQFELEIL SMQNVNGELQ NGNCCGGARN 

        70         80         90        100        110        120 
PGDRKCTRDE CDTYFKVCLK EYQSRVTAGG PCSFGSGSTP VIGGNTFNLK ASRGNDRNRI 

       130        140        150        160        170        180 
VLPFSFAWPR SYTLLVEAWD SSNDTVQPDS IIEKASHSGM INPSRQWQTL KQNTGVAHFE 

       190        200        210        220        230        240 
YQIRVTCDDY YYGFGCNKFC RPRDDFFGHY ACDQNGNKTC MEGWMGPECN RAICRQGCSP 

       250        260        270        280        290        300 
KHGSCKLPGD CRCQYGWQGL YCDKCIPHPG CVHGICNEPW QCLCETNWGG QLCDKDLNYC 

       310        320        330        340        350        360 
GTHQPCLNGG TCSNTGPDKY QCSCPEGYSG PNCEIAEHAC LSDPCHNRGS CKETSLGFEC 

       370        380        390        400        410        420 
ECSPGWTGPT CSTNIDDCSP NNCSHGGTCQ DLVNGFKCVC PPQWTGKTCQ LDANECEAKP 

       430        440        450        460        470        480 
CVNAKSCKNL IASYYCDCLP GWMGQNCDIN INDCLGQCQN DASCRDLVNG YRCICPPGYA 

       490        500        510        520        530        540 
GDHCERDIDE CASNPCLNGG HCQNEINRFQ CLCPTGFSGN LCQLDIDYCE PNPCQNGAQC 

       550        560        570        580        590        600 
YNRASDYFCK CPEDYEGKNC SHLKDHCRTT PCEVIDSCTV AMASNDTPEG VRYISSNVCG 

       610        620        630        640        650        660 
PHGKCKSQSG GKFTCDCNKG FTGTYCHENI NDCESNPCRN GGTCIDGVNS YKCICSDGWE 

       670        680        690        700        710        720 
GAYCETNIND CSQNPCHNGG TCRDLVNDFY CDCKNGWKGK TCHSRDSQCD EATCNNGGTC 

       730        740        750        760        770        780 
YDEGDAFKCM CPGGWEGTTC NIARNSSCLP NPCHNGGTCV VNGESFTCVC KEGWEGPICA 

       790        800        810        820        830        840 
QNTNDCSPHP CYNSGTCVDG DNWYRCECAP GFAGPDCRIN INECQSSPCA FGATCVDEIN 

       850        860        870        880        890        900 
GYRCVCPPGH SGAKCQEVSG RPCITMGSVI PDGAKWDDDC NTCQCLNGRI ACSKVWCGPR 

       910        920        930        940        950        960 
PCLLHKGHSE CPSGQSCIPI LDDQCFVHPC TGVGECRSSS LQPVKTKCTS DSYYQDNCAN 

       970        980        990       1000       1010       1020 
ITFTFNKEMM SPGLTTEHIC SELRNLNILK NVSAEYSIYI ACEPSPSANN EIHVAISAED 

      1030       1040       1050       1060       1070       1080 
IRDDGNPIKE ITDKIIDLVS KRDGNSSLIA AVAEVRVQRR PLKNRTDFLV PLLSSVLTVA 

      1090       1100       1110       1120       1130       1140 
WICCLVTAFY WCLRKRRKPG SHTHSASEDN TTNNVREQLN QIKNPIEKHG ANTVPIKDYE 

      1150       1160       1170       1180       1190       1200 
NKNSKMSKIR THNSEVEEDD MDKHQQKARF AKQPAYTLVD REEKPPNGTP TKHPNWTNKQ 

      1210 
DNRDLESAQS LNRMEYIV

P78504 in FASTA format

View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools