Seroatlas · Human Serome Atlas

JAG1

Protein jagged-1

Also known as: AGS, AHD, AWS, CD339, HJ1, JAG1_HUMAN, JAGL1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P78504
Gene: JAG1
Ensembl: ENSG00000101384
Chromosome: 20
Canonical length: 1218 aa
Protein class: CD markers, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Golgi apparatus,Plasma membrane

OverviewNCBI Gene

The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]

Canonical amino-acid sequenceUniProt

1218 residues, UniProt reviewed canonical sequence.

>P78504|JAG1
     1  MRSPRTRGRS GRPLSLLLAL LCALRAKVCG ASGQFELEIL SMQNVNGELQ NGNCCGGARN
    61  PGDRKCTRDE CDTYFKVCLK EYQSRVTAGG PCSFGSGSTP VIGGNTFNLK ASRGNDRNRI
   121  VLPFSFAWPR SYTLLVEAWD SSNDTVQPDS IIEKASHSGM INPSRQWQTL KQNTGVAHFE
   181  YQIRVTCDDY YYGFGCNKFC RPRDDFFGHY ACDQNGNKTC MEGWMGPECN RAICRQGCSP
   241  KHGSCKLPGD CRCQYGWQGL YCDKCIPHPG CVHGICNEPW QCLCETNWGG QLCDKDLNYC
   301  GTHQPCLNGG TCSNTGPDKY QCSCPEGYSG PNCEIAEHAC LSDPCHNRGS CKETSLGFEC
   361  ECSPGWTGPT CSTNIDDCSP NNCSHGGTCQ DLVNGFKCVC PPQWTGKTCQ LDANECEAKP
   421  CVNAKSCKNL IASYYCDCLP GWMGQNCDIN INDCLGQCQN DASCRDLVNG YRCICPPGYA
   481  GDHCERDIDE CASNPCLNGG HCQNEINRFQ CLCPTGFSGN LCQLDIDYCE PNPCQNGAQC
   541  YNRASDYFCK CPEDYEGKNC SHLKDHCRTT PCEVIDSCTV AMASNDTPEG VRYISSNVCG
   601  PHGKCKSQSG GKFTCDCNKG FTGTYCHENI NDCESNPCRN GGTCIDGVNS YKCICSDGWE
   661  GAYCETNIND CSQNPCHNGG TCRDLVNDFY CDCKNGWKGK TCHSRDSQCD EATCNNGGTC
   721  YDEGDAFKCM CPGGWEGTTC NIARNSSCLP NPCHNGGTCV VNGESFTCVC KEGWEGPICA
   781  QNTNDCSPHP CYNSGTCVDG DNWYRCECAP GFAGPDCRIN INECQSSPCA FGATCVDEIN
   841  GYRCVCPPGH SGAKCQEVSG RPCITMGSVI PDGAKWDDDC NTCQCLNGRI ACSKVWCGPR
   901  PCLLHKGHSE CPSGQSCIPI LDDQCFVHPC TGVGECRSSS LQPVKTKCTS DSYYQDNCAN
   961  ITFTFNKEMM SPGLTTEHIC SELRNLNILK NVSAEYSIYI ACEPSPSANN EIHVAISAED
  1021  IRDDGNPIKE ITDKIIDLVS KRDGNSSLIA AVAEVRVQRR PLKNRTDFLV PLLSSVLTVA
  1081  WICCLVTAFY WCLRKRRKPG SHTHSASEDN TTNNVREQLN QIKNPIEKHG ANTVPIKDYE
  1141  NKNSKMSKIR THNSEVEEDD MDKHQQKARF AKQPAYTLVD REEKPPNGTP TKHPNWTNKQ
  1201  DNRDLESAQS LNRMEYIV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against JAG1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.4
Highest tissue expression: 101 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 101 nTPM
placenta: 64 nTPM
skin: 54 nTPM
esophagus: 50 nTPM
vagina: 48 nTPM
cervix: 43 nTPM

Single-cell type

vascular smooth muscle cells: 380 nCPM
endometrial ciliated cells: 300 nCPM
pericytes: 221 nCPM
ocular epithelial cells: 180 nCPM
basal keratinocytes: 167 nCPM
endometrial luminal cells: 167 nCPM

Immune cell

eosinophil: 0.6 nTPM
classical monocyte: 0.4 nTPM
neutrophil: 0.3 nTPM
plasmacytoid DC: 0.2 nTPM
myeloid DC: 0.1 nTPM
NK-cell: 0.1 nTPM

Brain region

midbrain: 23 nTPM
hippocampal formation: 20 nTPM
medulla oblongata: 19 nTPM
thalamus: 19 nTPM
cerebral cortex: 16 nTPM
amygdala: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about JAG1.

Disease | AllUniProt

Conditions JAG1 is implicated in, by any mechanism.

Alagille syndrome 1 (ALGS1) MIM:118450
Tetralogy of Fallot (TOF) MIM:187500
Deafness, congenital heart defects, and posterior embryotoxon (DCHE) MIM:617992
Charcot-Marie-Tooth disease, axonal, type 2HH (CMT2HH) MIM:619574

Disease | GeneticClinVar

476 pathogenic / likely-pathogenic of 2,703 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Alagille syndrome due to a JAG1 point mutation
JAG1-related disorder
Tetralogy of Fallot
Arteriohepatic dysplasia
Charcot-Marie-Tooth disease, axonal, Type 2HH

Disease | ImmuneIEDB

Conditions an epitope on JAG1 was assayed in.

type 1 diabetes mellitus T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.15
gnomAD pLI: 1
gnomAD missense Z: 3.25
DepMap mean gene effect: -0.04
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of JAG1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads JAG1 as an antibody target. Whether an autoantibody or antibody against JAG1 could matter depends on whether native JAG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

JAG1 is annotated at the cell surface, where native JAG1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label JAG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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