Q96F15 · GIMA5_HUMAN
- ProteinGTPase IMAP family member 5
- GeneGIMAP5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids307 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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 Ca2+ homeostasis by modulating lysosomal Ca2+ 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).
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 Ca2+ homeostasis by modulating lysosomal Ca2+ 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).
Features
Showing features for binding site.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | lysosomal membrane | |
Cellular Component | multivesicular body membrane | |
Molecular Function | GTP binding |
Keywords
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameGTPase IMAP family member 5
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ96F15
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Lysosome membrane ; Single-pass type IV membrane protein
Endosome, multivesicular body membrane ; Single-pass type IV membrane protein
Endosome membrane ; Single-pass type IV membrane protein
Note: The mitochondrial localization originally reported was observed with C-terminally tagged protein and was not confirmed in later publications.
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-284 | Cytoplasmic | ||||
Sequence: MGGFQRGKYGTMAEGRSEDNLSATPPALRIILVGKTGCGKSATGNSILGQPVFESKLRAQSVTRTCQVKTGTWNGRKVLVVDTPSIFESQADTQELYKNIGDCYLLSAPGPHVLLLVIQLGRFTAQDTVAIRKVKEVFGTGAMRHVVILFTHKEDLGGQALDDYVANTDNCSLKDLVRECERRYCAFNNWGSVEEQRQQQAELLAVIERLGREREGSFHSNDLFLDAQLLQRTGAGACQEDYRQYQAKVEWQVEKHKQELRENESNWAYKALLRVKHLMLLHYE | ||||||
Transmembrane | 285-305 | Helical; Anchor for type IV membrane protein | ||||
Sequence: IFVFLLLCSILFFIIFLFIFH | ||||||
Topological domain | 306-307 | Lumenal | ||||
Sequence: YI |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Portal hypertension, non-cirrhotic, 2 (NCPH2)
- Note
- DescriptionAn 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.
- See alsoMIM:619463
Natural variants in NCPH2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_086141 | 47 | I>T | in NCPH2; uncertain significance | |
VAR_086142 | 109 | P>L | in NCPH2; uncertain significance | |
VAR_081683 | 204 | L>P | in NCPH2; uncertain significance; strong decrease in protein level; dbSNP:rs72650695 | |
VAR_086143 | 223 | L>F | in NCPH2; uncertain significance |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_086141 | 47 | in NCPH2; uncertain significance | |||
Sequence: I → T | ||||||
Natural variant | VAR_086142 | 109 | in NCPH2; uncertain significance | |||
Sequence: P → L | ||||||
Natural variant | VAR_081683 | 204 | in NCPH2; uncertain significance; strong decrease in protein level; dbSNP:rs72650695 | |||
Sequence: L → P | ||||||
Natural variant | VAR_086143 | 223 | in NCPH2; uncertain significance | |||
Sequence: L → F |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 479 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000190990 | 1-307 | UniProt | GTPase IMAP family member 5 | |||
Sequence: MGGFQRGKYGTMAEGRSEDNLSATPPALRIILVGKTGCGKSATGNSILGQPVFESKLRAQSVTRTCQVKTGTWNGRKVLVVDTPSIFESQADTQELYKNIGDCYLLSAPGPHVLLLVIQLGRFTAQDTVAIRKVKEVFGTGAMRHVVILFTHKEDLGGQALDDYVANTDNCSLKDLVRECERRYCAFNNWGSVEEQRQQQAELLAVIERLGREREGSFHSNDLFLDAQLLQRTGAGACQEDYRQYQAKVEWQVEKHKQELRENESNWAYKALLRVKHLMLLHYEIFVFLLLCSILFFIIFLFIFHYI | |||||||
Modified residue (large scale data) | 11 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 17 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Tissue specificity
Widely expressed with high levels in lymph node and spleen (PubMed:14724691).
High expression found in T lymphocytes, including CD4 and CD8-positive T-cells, and monocytes (PubMed:14724691, PubMed:29382851).
Very low expression levels in B-lymphocytes (PubMed:14724691).
High expression found in T lymphocytes, including CD4 and CD8-positive T-cells, and monocytes (PubMed:14724691, PubMed:29382851).
Very low expression levels in B-lymphocytes (PubMed:14724691).
Gene expression databases
Organism-specific databases
Interaction
Subunit
Interacts with BAD, BAK1, BAX, BCL2, BCL2L1/Bcl-xL and BCL2L11/BimEL (PubMed:16509771).
The interaction with BAX is increased, when cells initiate apoptosis upon IL2 withdrawal (PubMed:16509771).
Also interacts with BCL2 (By similarity).
Forms a complex with BCL2L1 or MCL1 and HSPA8/HSC70; the interaction between HSPA8 and BCL2L1 or MCL1 is impaired in the absence of GIMAP5 (By similarity).
May interact (via N-terminus) with microtubules (By similarity).
The interaction with BAX is increased, when cells initiate apoptosis upon IL2 withdrawal (PubMed:16509771).
Also interacts with BCL2 (By similarity).
Forms a complex with BCL2L1 or MCL1 and HSPA8/HSC70; the interaction between HSPA8 and BCL2L1 or MCL1 is impaired in the absence of GIMAP5 (By similarity).
May interact (via N-terminus) with microtubules (By similarity).
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-21 | Disordered | ||||
Sequence: MGGFQRGKYGTMAEGRSEDNL | ||||||
Domain | 25-228 | AIG1-type G | ||||
Sequence: PPALRIILVGKTGCGKSATGNSILGQPVFESKLRAQSVTRTCQVKTGTWNGRKVLVVDTPSIFESQADTQELYKNIGDCYLLSAPGPHVLLLVIQLGRFTAQDTVAIRKVKEVFGTGAMRHVVILFTHKEDLGGQALDDYVANTDNCSLKDLVRECERRYCAFNNWGSVEEQRQQQAELLAVIERLGREREGSFHSNDLFLDAQ |
Sequence similarities
Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. AIG1/Toc34/Toc159-like paraseptin GTPase family. IAN subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q96F15-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length307
- Mass (Da)34,846
- Last updated2001-12-01 v1
- ChecksumD219F52DE910C5BA
Q96F15-2
- Name2
- Differences from canonical
- 1-14: MGGFQRGKYGTMAE → MQDSPIVVCTLLCTHKYVYHSGEDVHSFHEITMNNDLTVLRIINLVRYKTSFST
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_008961 | 1-14 | in isoform 2 | |||
Sequence: MGGFQRGKYGTMAE → MQDSPIVVCTLLCTHKYVYHSGEDVHSFHEITMNNDLTVLRIINLVRYKTSFST | ||||||
Sequence conflict | 174 | in Ref. 2; BAA92115 | ||||
Sequence: K → E |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK002158 EMBL· GenBank· DDBJ | BAA92115.1 EMBL· GenBank· DDBJ | mRNA | ||
AK055568 EMBL· GenBank· DDBJ | BAB70958.1 EMBL· GenBank· DDBJ | mRNA | ||
CR457280 EMBL· GenBank· DDBJ | CAG33561.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471173 EMBL· GenBank· DDBJ | EAW54092.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471173 EMBL· GenBank· DDBJ | EAW54093.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471173 EMBL· GenBank· DDBJ | EAW54094.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC011732 EMBL· GenBank· DDBJ | AAH11732.1 EMBL· GenBank· DDBJ | mRNA |