JAG1
entrez
182
canonical
uniprot
P78504
canonical
ensembl
ENSG00000101384
resolver
ensp
ENSP00000254958
resolver
genesymbol
JAG1
resolver
genesymbol_syn
JAGL1
resolver
hgnc
HGNC:6188
resolver
uniprot
A0AV43
resolver
uniprot
B4DYR1
resolver
uniprot
E9PCF9
resolver
uniprot
O14902
resolver
uniprot
O15122
resolver
uniprot
Q15816
resolver
uniprot
Q99740
resolver
uniprot_entry
JAG1_HUMAN
resolver
uniprot_entry
Q99740_HUMAN
resolver
uniprot_sec
A0AV43
resolver
uniprot_sec
B4DYR1
resolver
uniprot_sec
E9PCF9
resolver
uniprot_sec
O14902
resolver
uniprot_sec
O15122
resolver
uniprot_sec
Q15816
resolver
amino_acid_sequence
MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARNPGDRKCTRDECDTYFKVCLKEYQSRVTAGGPCSFGSGSTPVIGGNTFNLKASRGNDRNRIVLPFSFAWPRSYTLLVEAWDSSNDTVQPDSIIEKASHSGMINPSRQWQTLKQNTGVAHFEYQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWMGPECNRAICRQGCSPKHGSCKLPGDCRCQYGWQGLYCDKCIPHPGCVHGICNEPWQCLCETNWGGQLCDKDLNYCGTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPNCEIAEHACLSDPCHNRGSCKETSLGFECECSPGWTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTGKTCQLDANECEAKPCVNAKSCKNLIASYYCDCLPGWMGQNCDININDCLGQCQNDASCRDLVNGYRCICPPGYAGDHCERDIDECASNPCLNGGHCQNEINRFQCLCPTGFSGNLCQLDIDYCEPNPCQNGAQCYNRASDYFCKCPEDYEGKNCSHLKDHCRTTPCEVIDSCTVAMASNDTPEGVRYISSNVCGPHGKCKSQSGGKFTCDCNKGFTGTYCHENINDCESNPCRNGGTCIDGVNSYKCICSDGWEGAYCETNINDCSQNPCHNGGTCRDLVNDFYCDCKNGWKGKTCHSRDSQCDEATCNNGGTCYDEGDAFKCMCPGGWEGTTCNIARNSSCLPNPCHNGGTCVVNGESFTCVCKEGWEGPICAQNTNDCSPHPCYNSGTCVDGDNWYRCECAPGFAGPDCRININECQSSPCAFGATCVDEINGYRCVCPPGHSGAKCQEVSGRPCITMGSVIPDGAKWDDDCNTCQCLNGRIACSKVWCGPRPCLLHKGHSECPSGQSCIPILDDQCFVHPCTGVGECRSSSLQPVKTKCTSDSYYQDNCANITFTFNKEMMSPGLTTEHICSELRNLNILKNVSAEYSIYIACEPSPSANNEIHVAISAEDIRDDGNPIKEITDKIIDLVSKRDGNSSLIAAVAEVRVQRRPLKNRTDFLVPLLSSVLTVAWICCLVTAFYWCLRKRRKPGSHTHSASEDNTTNNVREQLNQIKNPIEKHGANTVPIKDYENKNSKMSKIRTHNSEVEEDDMDKHQQKARFAKQPAYTLVDREEKPPNGTPTKHPNWTNKQDNRDLESAQSLNRMEYIV
uniprot
proteins
disease_involvement
DISEASE: Alagille syndrome 1 (ALGS1) [MIM:118450]: A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined 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. {ECO:0000269|PubMed:10220506, ECO:0000269|PubMed:10533065, ECO:0000269|PubMed:11058898, ECO:0000269|PubMed:11139247, ECO:0000269|PubMed:11157803, ECO:0000269|PubMed:11180599, ECO:0000269|PubMed:12442286, ECO:0000269|PubMed:12497640, ECO:0000269|PubMed:15712272, ECO:0000269|PubMed:16575836, ECO:0000269|PubMed:20437614, ECO:0000269|PubMed:23801938, ECO:0000269|PubMed:32065591, ECO:0000269|PubMed:9207788, ECO:0000269|PubMed:9585603}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Tetralogy of Fallot (TOF) [MIM:187500]: 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. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269|PubMed:11152664, ECO:0000269|PubMed:19948535, ECO:0000269|PubMed:20437614}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, congenital heart defects, and posterior embryotoxon (DCHE) [MIM:617992]: An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium. Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. {ECO:0000269|PubMed:12022040, ECO:0000269|PubMed:20437614}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 2HH (CMT2HH) [MIM:619574]: An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2HH is characterized by vocal fold paresis that remains throughout life and may be severe. Additional features include pes cavus, scoliosis, distal sensory impairment with hyporeflexia, mild distal muscle weakness and atrophy primarily affecting the lower limbs, although the upper limbs may also be involved. {ECO:0000269|PubMed:32065591}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). 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). {ECO:0000250, ECO:0000269|PubMed:18660822, ECO:0000269|PubMed:20437614, ECO:0000269|PubMed:9462510}.
uniprot
proteins
mass_dalton
133799
uniprot
proteins
mutagenesis
MUTAGEN 207; /note="F->A: Strongly reduced NOTCH1 binding."; /evidence="ECO:0000269|PubMed:18660822
uniprot
proteins
pubmed
10079256
uniprot
proteins
pubmed
10220506
uniprot
proteins
pubmed
10329626
uniprot
proteins
pubmed
10533065
uniprot
proteins
pubmed
10978356
uniprot
proteins
pubmed
11058898
uniprot
proteins
pubmed
11139247
uniprot
proteins
pubmed
11152664
uniprot
proteins
pubmed
11157803
uniprot
proteins
pubmed
11180599
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12022040
uniprot
proteins
pubmed
12297837
uniprot
proteins
pubmed
12442286
uniprot
proteins
pubmed
12497640
uniprot
proteins
pubmed
12649809
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15712272
uniprot
proteins
pubmed
16575836
uniprot
proteins
pubmed
18660822
uniprot
proteins
pubmed
19586525
uniprot
proteins
pubmed
19948535
uniprot
proteins
pubmed
20437614
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23801938
uniprot
proteins
pubmed
32065591
uniprot
proteins
pubmed
8955070
uniprot
proteins
pubmed
9207787
uniprot
proteins
pubmed
9207788
uniprot
proteins
pubmed
9268641
uniprot
proteins
pubmed
9462510
uniprot
proteins
pubmed
9585603
uniprot
proteins
sequence_length
1218
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Cell membrane {ECO:0000269|PubMed:32065591}.
uniprot
proteins
transmembrane_region
TRANSMEM 1068..1093; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins