FCHO1
entrez
23149
canonical
uniprot
O14526
canonical
ensembl
ENSG00000130475
resolver
ensp
ENSP00000469075
resolver
ensp
ENSP00000469711
resolver
ensp
ENSP00000470493
resolver
ensp
ENSP00000470511
resolver
ensp
ENSP00000470731
resolver
ensp
ENSP00000472668
resolver
ensp
ENSP00000473001
resolver
ensp
ENSP00000514179
resolver
ensp
ENSP00000514180
resolver
ensp
ENSP00000514194
resolver
ensp
ENSP00000514195
resolver
ensp
ENSP00000514196
resolver
ensp
ENSP00000514197
resolver
ensp
ENSP00000514198
resolver
ensp
ENSP00000514200
resolver
ensp
ENSP00000514201
resolver
ensp
ENSP00000514204
resolver
ensp
ENSP00000514209
resolver
ensp
ENSP00000514210
resolver
ensp
ENSP00000514212
resolver
ensp
ENSP00000619340
resolver
ensp
ENSP00000619342
resolver
ensp
ENSP00000619343
resolver
enst
ENST00000594202
resolver
enst
ENST00000598539
resolver
enst
ENST00000699197
resolver
enst
ENST00000699198
resolver
enst
ENST00000699199
resolver
enst
ENST00000699200
resolver
enst
ENST00000699202
resolver
enst
ENST00000699203
resolver
enst
ENST00000699213
resolver
enst
ENST00000699214
resolver
enst
ENST00000699216
resolver
enst
ENST00000949281
resolver
enst
ENST00000949284
resolver
genesymbol
FCHO1
resolver
genesymbol_syn
KIAA0290
resolver
hgnc
HGNC:29002
resolver
uniprot
A0A0C3SFZ9
resolver
uniprot
A0A8V8TMX9
resolver
uniprot
A0A8V8TNC3
resolver
uniprot
A0A8V8TPM7
resolver
uniprot
A6NHE6
resolver
uniprot
A8K5U5
resolver
uniprot
B4E120
resolver
uniprot
B7ZAZ3
resolver
uniprot
M0QYA9
resolver
uniprot
Q05C93
resolver
uniprot
Q8IW22
resolver
uniprot_entry
A0A0C3SFZ9_HUMAN
resolver
uniprot_entry
A0A8V8TMX9_HUMAN
resolver
uniprot_entry
A0A8V8TNC3_HUMAN
resolver
uniprot_entry
A0A8V8TPM7_HUMAN
resolver
uniprot_entry
B7ZAZ3_HUMAN
resolver
uniprot_entry
FCHO1_HUMAN
resolver
uniprot_entry
M0QYA9_HUMAN
resolver
uniprot_sec
A6NHE6
resolver
uniprot_sec
A8K5U5
resolver
uniprot_sec
B4E120
resolver
uniprot_sec
Q05C93
resolver
uniprot_sec
Q8IW22
resolver
amino_acid_sequence
MSYFGEHFWGEKNHGFEVLYHSVKQGPISTKELADFIRERATIEETYSKAMAKLSKLASNGTPMGTFAPLWEVFRVSSDKLALCHLELTRKLQDLIKDVLRYGEEQLKTHKKCKEEVVSTLDAVQVLSGVSQLLPKSRENYLNRCMDQERLRRESTSQKEMDKAETKTKKAAESLRRSVEKYNSARADFEQKMLDSALRFQAMEETHLRHMKALLGSYAHSVEDTHVQIGQVHEEFKQNIENVSVEMLLRKFAESKGTGREKPGPLDFEAYSAAALQEAMKRLRGAKAFRLPGLSRREREPEPPAAVDFLEPDSGTCPEVDEEGFTVRPDVTQNSTAEPSRFSSSDSDFDDEEPRKFYVHIKPAPARAPACSPEAAAAQLRATAGSLILPPGPGGTMKRHSSRDAAGKPQRPRSAPRTSSCAERLQSEEQVSKNLFGPPLESAFDHEDFTGSSSLGFTSSPSPFSSSSPENVEDSGLDSPSHAAPGPSPDSWVPRPGTPQSPPSCRAPPPEARGIRAPPLPDSPQPLASSPGPWGLEALAGGDLMPAPADPTAREGLAAPPRRLRSRKVSCPLTRSNGDLSRSLSPSPLGSSAASTALERPSFLSQTGHGVSRGPSPVVLGSQDALPIATAFTEYVHAYFRGHSPSCLARVTGELTMTFPAGIVRVFSGTPPPPVLSFRLVHTTAIEHFQPNADLLFSDPSQSDPETKDFWLNMAALTEALQRQAEQNPTASYYNVVLLRYQFSRPGPQSVPLQLSAHWQCGATLTQVSVEYGYRPGATAVPTPLTNVQILLPVGEPVTNVRLQPAATWNLEEKRLTWRLPDVSEAGGSGRLSASWEPLSGPSTPSPVAAQFTSEGTTLSGVDLELVGSGYRMSLVKRRFATGMYLVSC
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 76 (IMD76) [MIM:619164]: An autosomal recessive immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Affected individuals have T-cell lymphopenia and variable B-cell or immunoglobulin abnormalities. Some patients develop B-cell lymphoma, others manifest neurologic features. {ECO:0000269|PubMed:30822429, ECO:0000269|PubMed:32098969}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions in an early step of clathrin-mediated endocytosis (PubMed:30822429). Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. May regulate Bmp signaling by regulating clathrin-mediated endocytosis of Bmp receptors. Involved in the regulation of T-cell proliferation and activation (PubMed:30822429, PubMed:32098969). Affects TCR clustering upon receptor triggering and modulates its internalization, playing a role in TCR-dependent T-cell activation (PubMed:32098969). {ECO:0000269|PubMed:20448150, ECO:0000269|PubMed:30822429, ECO:0000269|PubMed:32098969}.
uniprot
proteins
mass_dalton
96861
uniprot
proteins
protein_family
FCHO family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17617719
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20448150
uniprot
proteins
pubmed
22484487
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
30822429
uniprot
proteins
pubmed
32098969
uniprot
proteins
pubmed
32312977
uniprot
proteins
pubmed
9179496
uniprot
proteins
sequence_length
889
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane, clathrin-coated pit {ECO:0000305|PubMed:17617719, ECO:0000305|PubMed:20448150, ECO:0000305|PubMed:32098969}; Peripheral membrane protein {ECO:0000305|PubMed:17617719, ECO:0000305|PubMed:20448150}; Cytoplasmic side {ECO:0000305|PubMed:17617719, ECO:0000305|PubMed:20448150}. Note=Associated with forming but not mature clathrin-coated vesicles. The recruitment to coated-pits precede the one of clathrin and the adaptor protein complex AP-2. According to PubMed:17617719 it may also dynamically associate with Golgi/TGN membranes.
uniprot
proteins