Seroatlas · Human Serome Atlas

GIGYF1

GRB10-interacting GYF protein 1

Also known as: GGYF1_HUMAN, GYF1, PERQ1

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

Protein identityUniProt · HPA

UniProt accession: O75420
Gene: GIGYF1
Ensembl: ENSG00000146830
Chromosome: 7
Canonical length: 1035 aa
Protein class: Predicted intracellular proteins
Subcellular location: Vesicles,Microtubules

OverviewNCBI Gene

This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that binds activated insulin-like growth factor 1 and insulin receptors and regulates receptor signaling. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

1035 residues, UniProt reviewed canonical sequence.

>O75420|GIGYF1
     1  MAAETLNFGP EWLRALSGGG SVASPPPSPA MPKYKLADYR YGREEMLALY VKENKVPEEL
    61  QDKEFAAVLQ DEPLQPLALE PLTEEEQRNF SLSVNSVAVL RLMGKGAGPP LAGTSRGRGS
   121  TRSRGRGRGD SCFYQRSIEE GDGAFGRSPR EIQRSQSWDD RGERRFEKSA RRDGARCGFE
   181  EGGAGPRKEH ARSDSENWRS LREEQEEEEE GSWRLGAGPR RDGDRWRSAS PDGGPRSAGW
   241  REHGERRRKF EFDLRGDRGG CGEEEGRGGG GSSHLRRCRA PEGFEEDKDG LPEWCLDDED
   301  EEMGTFDASG AFLPLKKGPK EPIPEEQELD FQGLEEEEEP SEGLEEEGPE AGGKELTPLP
   361  PQEEKSSSPS PLPTLGPLWG TNGDGDETAE KEPPAAEDDI RGIQLSPGVG SSAGPPGDLE
   421  DDEGLKHLQQ EAEKLVASLQ DSSLEEEQFT AAMQTQGLRH SAAATALPLS HGAARKWFYK
   481  DPQGEIQGPF TTQEMAEWFQ AGYFSMSLLV KRGCDEGFQP LGEVIKMWGR VPFAPGPSPP
   541  PLLGNMDQER LKKQQELAAA ALYQQLQHQQ FLQLVSSRQL PQCALREKAA LGDLTPPPPP
   601  PPQQQQQQLT AFLQQLQALK PPRGGDQNLL PTMSRSLSVP DSGRLWDVHT SASSQSGGEA
   661  SLWDIPINSS TQGPILEQLQ LQHKFQERRE VELRAKREEE ERKRREEKRR QQQQEEQKRR
   721  QEEEELFRRK HVRQQELLLK LLQQQQAVPV PPAPSSPPPL WAGLAKQGLS MKTLLELQLE
   781  GERQLHKQPP PREPARAQAP NHRVQLGGLG TAPLNQWVSE AGPLWGGPDK SGGGSSGLGL
   841  WEDTPKSGGS LVRGLGLKNS RSSPSLSDSY SHLSGRPIRK KTEEEEKLLK LLQGIPRPQD
   901  GFTQWCEQML HTLSATGSLD VPMAVAILKE VESPYDVHDY IRSCLGDTLE AKEFAKQFLE
   961  RRAKQKASQQ RQQQQEAWLS SASLQTAFQA NHSTKLGPGE GSKAKRRALM LHSDPSILGY
  1021  SLHGSSGEIE SVDDY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GIGYF1 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.61
Highest tissue expression: 56 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 56 nTPM
ovary: 45 nTPM
pituitary gland: 43 nTPM
spleen: 41 nTPM
cervix: 40 nTPM
endometrium: 38 nTPM

Single-cell type

adrenal cortex cells: 108 nCPM
choroid plexus epithelial cells: 70 nCPM
proximal tubule cells: 68 nCPM
differentiating spermatogonia: 58 nCPM
bergmann glia: 55 nCPM
distal convoluted tubule cells: 54 nCPM

Immune cell

neutrophil: 4.5 nTPM
gdT-cell: 2.4 nTPM
basophil: 2.2 nTPM
plasmacytoid DC: 2 nTPM
naive B-cell: 1.9 nTPM
MAIT T-cell: 1.8 nTPM

Brain region

cerebellum: 53 nTPM
white matter: 46 nTPM
cerebral cortex: 43 nTPM
thalamus: 41 nTPM
choroid plexus: 41 nTPM
amygdala: 40 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GIGYF1.

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 253 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autism spectrum disorder
GIGYF1-related disorder
Neurodevelopmental disorder
GIGYF1-associated disorder

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): 0.48
gnomAD pLI: 0
gnomAD missense Z: -0.15
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

insulin-like growth factor receptor signaling pathway

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of GIGYF1 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 GIGYF1 as an antibody target. Whether an autoantibody or antibody against GIGYF1 could matter depends on whether native GIGYF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GIGYF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GIGYF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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