IRS4
entrez
8471
canonical
uniprot
O14654
canonical
ensembl
ENSG00000133124
resolver
ensp
ENSP00000361202
resolver
ensp
ENSP00000505547
resolver
enst
ENST00000372129
resolver
enst
ENST00000564206
resolver
genesymbol
IRS4
resolver
hgnc
HGNC:6128
resolver
uniprot
A0A804CF45
resolver
uniprot_entry
A0A804CF45_HUMAN
resolver
uniprot_entry
IRS4_HUMAN
resolver
amino_acid_sequence
MASCSFTRDQATRRLRGAAAAAAAALAAVVTTPLLSSGTPTALIGTGSSCPGAMWLSTATGSRSDSESEEEDLPVGEEVCKRGYLRKQKHGHRRYFVLKLETADAPARLEYYENARKFRHSVRAAAAAAAAAASGAAIPPLIPPRRVITLYQCFSVSQRADARYRHLIALFTQDEYFAMVAENESEQESWYLLLSRLILESKRRRCGTLGAQPDGEPAALAAAAAAEPPFYKDVWQVIVKPRGLGHRKELSGVFRLCLTDEEVVFVRLNTEVASVVVQLLSIRRCGHSEQYFFLEVGRSTVIGPGELWMQVDDCVVAQNMHELFLEKMRALCADEYRARCRSYSISIGAHLLTLLSARRHLGLVPLEPGGWLRRSRFEQFCHLRAIGDGEDEMLFTRRFVTPSEPVAHSRRGRLHLPRGRRSRRAVSVPASFFRRLAPSPARPRHPAEAPNNGARLSSEVSGSGSGNFGEEGNPQGKEDQEGSGGDYMPMNNWGSGNGRGSGGGQGSNGQGSSSHSSGGNQCSGEGQGSRGGQGSNGQGSGGNQCSRDGQGTAGGHGSGGGQRPGGGHGSGGGQGPGDGHGSGGGKNSGGGKGSGSGKGSDGDGERGKSLKKRSYFGKLTQSKQQQMPPPPPPPPPPPPAGGTGGKGKSGGRFRLYFCVDRGATKECKEAKEVKDAEIPEGAARGPHRARAFDEDEDDPYVPMRPGVATPLVSSSDYMPMAPQNVSASKKRHSRSPFEDSRGYMMMFPRVSPPPAPSPPKAPDTNKEDDSKDNDSESDYMFMAPGAGAIPKNPRNPQGGSSSKSWSSYFSLPNPFRSSPLGQNDNSEYVPMLPGKFLGRGLDKEVSYNWDPKDAASKPSGEGSFSKPGDGGSPSKPSDHEPPKNKAKRPNRLSFITKGYKIKPKPQKPTHEQREADSSSDYVNMDFTKRESNTPAPSTQGLPDSWGIIAEPRQSAFSNYVNVEFGVPFPNPANDLSDLLRAIPRANPLSLDSARWPLPPLPLSATGSNAIEEEGDYIEVIFNSAMTPAMALADSAIRYDAETGRIYVVDPFSECCMDISLSPSRCSEPPPVARLLQEEEQERRRPQSRSQSFFAAARAAVSAFPTDSLERDLSPSSAPAVASAAEPTLALSQVVAAASALAAAPGIGAAAAAAGFDSASARWFQPVANAADAEAVRGAQDVAGGSNPGAHNPSANLARGDNQAGGAAAAAAAPEPPPRSRRVPRPPEREDSDNDDDTHVRMDFARRDNQFDSPKRGR
uniprot
proteins
disease_involvement
DISEASE: Hypothyroidism, congenital, non-goitrous, 9 (CHNG9) [MIM:301035]: A form of central hypothyroidism, a disorder characterized by sub-optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG9 is a congenital, X-linked recessive form. Patients have a small thyroid gland with low free T4 levels and inappropriately normal levels of thyrotropin. {ECO:0000269|PubMed:30061370}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2 domains. Involved in the IGF1R mitogenic signaling pathway. Promotes the AKT1 signaling pathway and BAD phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis. Interaction with GRB2 enhances insulin-stimulated mitogen-activated protein kinase activity. May be involved in nonreceptor tyrosine kinase signaling in myoblasts. Plays a pivotal role in the proliferation/differentiation of hepatoblastoma cell through EPHB2 activation upon IGF1 stimulation. May play a role in the signal transduction in response to insulin and to a lesser extent in response to IL4 and GH on mitogenesis. Plays a role in growth, reproduction and glucose homeostasis. May act as negative regulators of the IGF1 signaling pathway by suppressing the function of IRS1 and IRS2. {ECO:0000269|PubMed:10531310, ECO:0000269|PubMed:10594015, ECO:0000269|PubMed:12639902, ECO:0000269|PubMed:17408801, ECO:0000269|PubMed:9553137}.
uniprot
proteins
mass_dalton
133768
uniprot
proteins
mutagenesis
MUTAGEN 700; /note="Y->F: No effect. Reduces interaction with CRK by 50%; when associated with F-717. Abolishes interaction with CRK; when associated with F-717; F-743 and F-779."; /evidence="ECO:0000269|PubMed:11316748"; MUTAGEN 717; /note="Y->F: No effect. Reduces interaction with CRK by 50%; when associated with F-700. Abolishes interaction with CRK; when associated with F-700; F-743 and F-779."; /evidence="ECO:0000269|PubMed:11316748"; MUTAGEN 743; /note="Y->F: No effect. Reduces interaction with CRK by 50%; when associated with F-779. Abolishes interaction with CRK; when associated with F-700; F-717 and F-779."; /evidence="ECO:0000269|PubMed:11316748"; MUTAGEN 779; /note="Y->F: No effect. Reduces interaction with CRK by 50%; when associated with F-743. Abolishes interaction with CRK; when associated with F-700; F-717 and F-743."; /evidence="ECO:0000269|PubMed:11316748
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on tyrosine residues in response to both insulin and IGF1 signaling. Phosphorylated on Tyr-921 in response to FGF2 signaling. Phosphorylation of Tyr-921 is required for GRB2, phospholipase C-gamma and phosphatidylinositol 3-kinase interaction. {ECO:0000269|PubMed:15316024, ECO:0000269|PubMed:9261155, ECO:0000269|PubMed:9553137}.; PTM: Ubiquitinated in a ASB4-dependent manner, leading to proteasomal degradation. {ECO:0000269|PubMed:21955513}.
uniprot
proteins
pubmed
10531310
uniprot
proteins
pubmed
10594015
uniprot
proteins
pubmed
11316748
uniprot
proteins
pubmed
11912194
uniprot
proteins
pubmed
12639902
uniprot
proteins
pubmed
15316024
uniprot
proteins
pubmed
15331607
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15870689
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17408801
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21955513
uniprot
proteins
pubmed
30061370
uniprot
proteins
pubmed
9261155
uniprot
proteins
pubmed
9553137
uniprot
proteins
pubmed
9614078
uniprot
proteins
sequence_length
1257
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9553137}; Peripheral membrane protein {ECO:0000269|PubMed:9553137}; Cytoplasmic side {ECO:0000269|PubMed:9553137}.
uniprot
proteins