GIMAP5
entrez
55340
canonical
uniprot
Q96F15
canonical
ensembl
ENSG00000196329
resolver
ensp
ENSP00000351473
resolver
genesymbol
GIMAP5
resolver
genesymbol_syn
IAN4L1
resolver
genesymbol_syn
IAN5
resolver
genesymbol_syn
IMAP3
resolver
hgnc
HGNC:18005
resolver
uniprot
D3DWZ5
resolver
uniprot
Q6IA75
resolver
uniprot
Q96NE4
resolver
uniprot
Q9NUK9
resolver
uniprot_entry
GIMA5_HUMAN
resolver
uniprot_sec
D3DWZ5
resolver
uniprot_sec
Q6IA75
resolver
uniprot_sec
Q96NE4
resolver
uniprot_sec
Q9NUK9
resolver
amino_acid_sequence
MGGFQRGKYGTMAEGRSEDNLSATPPALRIILVGKTGCGKSATGNSILGQPVFESKLRAQSVTRTCQVKTGTWNGRKVLVVDTPSIFESQADTQELYKNIGDCYLLSAPGPHVLLLVIQLGRFTAQDTVAIRKVKEVFGTGAMRHVVILFTHKEDLGGQALDDYVANTDNCSLKDLVRECERRYCAFNNWGSVEEQRQQQAELLAVIERLGREREGSFHSNDLFLDAQLLQRTGAGACQEDYRQYQAKVEWQVEKHKQELRENESNWAYKALLRVKHLMLLHYEIFVFLLLCSILFFIIFLFIFHYI
uniprot
proteins
disease_involvement
DISEASE: Portal hypertension, non-cirrhotic, 2 (NCPH2) [MIM:619463]: An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH2 patients have jaundice, hyperbilirubinemia, pancytopenia, including neutropenia, lymphopenia, and thrombocytopenia, hepatosplenomegaly, and esophageal varices. Some patients may have recurrent infections or features suggestive of an immunodeficiency. {ECO:0000269|PubMed:33956074}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in T lymphocyte development and the optimal generation of CD4/CD8 double-positive thymocytes (By similarity). Inhibitor of GSK3A, possibly by sequestering GSK3A in cytoplasmic vesicles and impairing its translocation to the nucleus. Consequently, impairs GSK3A-dependent transcriptional program and regulation of the DNA damage response occurring during T cells proliferation (PubMed:29382851). Required for the survival of peripheral T cells, natural killer (NK) and NK T-cell development and the maintenance of normal liver function (By similarity). May promote the survival of mature T lymphocytes upon cytokine withdrawal (By similarity). May regulate Ca(2+) homeostasis by modulating lysosomal Ca(2+) stores, preventing its accumulation in the absence of T cell activation (By similarity). May play a role in mitochondrial DNA segregation in hematopoietic tissues (By similarity). Is a regulator of liver endothelial cell homeostasis (By similarity). {ECO:0000250|UniProtKB:Q8BWF2, ECO:0000250|UniProtKB:Q8K3L6, ECO:0000269|PubMed:29382851}.
uniprot
proteins
mass_dalton
34846
uniprot
proteins
protein_family
AIG1/Toc34/Toc159-like paraseptin GTPase family
uniprot
proteins
protein_family
IAN subfamily
uniprot
proteins
protein_family
TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14724691
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16509771
uniprot
proteins
pubmed
21487483
uniprot
proteins
pubmed
29382851
uniprot
proteins
pubmed
33956074
uniprot
proteins
sequence_length
307
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:21487483, ECO:0000269|PubMed:29382851}; Single-pass type IV membrane protein {ECO:0000305}. Endosome, multivesicular body membrane {ECO:0000269|PubMed:21487483}; Single-pass type IV membrane protein {ECO:0000305}. Endosome membrane {ECO:0000250|UniProtKB:Q8K3L6}; Single-pass type IV membrane protein {ECO:0000250|UniProtKB:Q8K3L6}. Note=The mitochondrial localization originally reported was observed with C-terminally tagged protein and was not confirmed in later publications. {ECO:0000305|PubMed:14724691, ECO:0000305|PubMed:21487483}.
uniprot
proteins
transmembrane_region
TRANSMEM 285..305; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins