TTC7A
entrez
57217
canonical
uniprot
Q9ULT0
canonical
ensembl
ENSG00000068724
resolver
ensp
ENSP00000316699
resolver
ensp
ENSP00000378320
resolver
ensp
ENSP00000386307
resolver
ensp
ENSP00000565519
resolver
ensp
ENSP00000565524
resolver
ensp
ENSP00000704522
resolver
ensp
ENSP00000783994
resolver
enst
ENST00000409245
resolver
genesymbol
TTC7A
resolver
genesymbol_syn
KIAA1140
resolver
genesymbol_syn
TTC7
resolver
hgnc
HGNC:19750
resolver
uniprot
B3KPK7
resolver
uniprot
G5E9G4
resolver
uniprot
I6L9J2
resolver
uniprot
Q2T9J9
resolver
uniprot
Q6PIX4
resolver
uniprot
Q8ND67
resolver
uniprot
Q9BUS3
resolver
uniprot_entry
B3KPK7_HUMAN
resolver
uniprot_entry
G5E9G4_HUMAN
resolver
uniprot_entry
I6L9J2_HUMAN
resolver
uniprot_entry
TTC7A_HUMAN
resolver
uniprot_sec
Q2T9J9
resolver
uniprot_sec
Q6PIX4
resolver
uniprot_sec
Q8ND67
resolver
uniprot_sec
Q9BUS3
resolver
amino_acid_sequence
MAAKGAHGSYLKVESELERCRAEGHWDRMPELVRQLQTLSMPGGGGNRRGSPSAAFTFPDTDDFGKLLLAEALLEQCLKENHAKIKDSMPLLEKNEPKMSEAKNYLSSILNHGRLSPQYMCEAMLILGKLHYVEGSYRDAISMYARAGIDDMSMENKPLYQMRLLSEAFVIKGLSLERLPNSIASRFRLTEREEEVITCFERASWIAQVFLQELEKTTNNSTSRHLKGCHPLDYELTYFLEAALQSAYVKNLKKGNIVKGMRELREVLRTVETKATQNFKVMAAKHLAGVLLHSLSEECYWSPLSHPLPEFMGKEESSFATQALRKPHLYEGDNLYCPKDNIEEALLLLLISESMATRDVVLSRVPEQEEDRTVSLQNAAAIYDLLSITLGRRGQYVMLSECLERAMKFAFGEFHLWYQVALSMVACGKSAYAVSLLRECVKLRPSDPTVPLMAAKVCIGSLRWLEEAEHFAMMVISLGEEAGEFLPKGYLALGLTYSLQATDATLKSKQDELHRKALQTLERAQQLAPSDPQVILYVSLQLALVRQISSAMEQLQEALKVRKDDAHALHLLALLFSAQKHHQHALDVVNMAITEHPENFNLMFTKVKLEQVLKGPEEALVTCRQVLRLWQTLYSFSQLGGLEKDGSFGEGLTMKKQSGMHLTLPDAHDADSGSRRASSIAASRLEEAMSELTMPSSVLKQGPMQLWTTLEQIWLQAAELFMEQQHLKEAGFCIQEAAGLFPTSHSVLYMRGRLAEVKGNLEEAKQLYKEALTVNPDGVRIMHSLGLMLSRLGHKSLAQKVLRDAVERQSTCHEAWQGLGEVLQAQGQNEAAVDCFLTALELEASSPVLPFSIIPREL
uniprot
proteins
disease_involvement
DISEASE: Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) [MIM:243150]: An autosomal recessive congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Some patients exhibit inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency. {ECO:0000269|PubMed:23423984, ECO:0000269|PubMed:23830146, ECO:0000269|PubMed:24292712, ECO:0000269|PubMed:24417819, ECO:0000269|PubMed:24931897, ECO:0000269|PubMed:25534311, ECO:0000269|PubMed:25546680, ECO:0000269|PubMed:25745186}. Note=The disease is caused by variants affecting the gene represented in this entry. Phenotypic variations have been observed: the mildest case show intestinal aberrations consisting of bloody diarrhea, apoptotic enterocolitis, and acute graft-versus-host disease- (GVHD)-like symptoms, but no atresias (PubMed:25546680). Other patients show multiple intestinal atresias, some being associated with immunodeficiency syndrome, while other do not show immunodeficiency defects (PubMed:23423984). {ECO:0000269|PubMed:23423984, ECO:0000269|PubMed:25546680}.
uniprot
proteins
function
FUNCTION: Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:24417819). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, plays a central role in bridging PI4KA to EFR3B and HYCC1, via direct interactions (By similarity). {ECO:0000250|UniProtKB:Q86TV6, ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:24417819}.
uniprot
proteins
mass_dalton
96185
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23229899
uniprot
proteins
pubmed
23423984
uniprot
proteins
pubmed
23830146
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24292712
uniprot
proteins
pubmed
24417819
uniprot
proteins
pubmed
24931897
uniprot
proteins
pubmed
25534311
uniprot
proteins
pubmed
25546680
uniprot
proteins
pubmed
25745186
uniprot
proteins
pubmed
34415310
uniprot
proteins
sequence_length
858
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25546680}. Cell membrane {ECO:0000250|UniProtKB:Q86TV6}. Note=Localizes to the cytosol and is recruited to the plasma membrane following interaction with EFR3 (EFR3A or EFR3B). {ECO:0000250|UniProtKB:Q86TV6}.
uniprot
proteins