GIMAP5 GTPase, IMAP family member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GIMAP5provided by HGNC
Official Full Name: GTPase, IMAP family member 5provided by HGNC
Primary source: HGNC:HGNC:18005
See related: Ensembl:ENSG00000196329 MIM:608086; AllianceGenome:HGNC:18005
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IAN4; IAN5; IROD; IAN-5; IMAP3; NCPH2; HIMAP3; IAN4L1
Summary: This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene encodes an antiapoptotic protein that functions in T-cell survival. Polymorphisms in this gene are associated with systemic lupus erythematosus. Read-through transcription exists between this gene and the neighboring upstream GIMAP1 (GTPase, IMAP family member 1) gene. [provided by RefSeq, Dec 2010]
Expression: Broad expression in lymph node (RPKM 61.1), spleen (RPKM 41.6) and 21 other tissues See more
Orthologs: all
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Genomic context

Location:: 7q36.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (150737418..150743646)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (151910326..151916554)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (150434506..150440734)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gimap5 promoted RSV degradation through interaction with M6PR.
Title: Gimap5 promoted RSV degradation through interaction with M6PR.
GIMAP5 loss-of-function mutation results in T cell deficiencies.
Title: Gimap5-dependent inactivation of GSK3β is required for CD4(+) T cell homeostasis and prevention of immune pathology.
These data,demonstrating the downregulation of the mRNA and protein expression levels of GIMAP5 and GIMAP6 in the tumor tissues and blood of patients with HCC, suggested the involvement of GIMAP5 and GIMAP6 in the pathogenesis of HCC, and indicate their possible use as diagnostic markers for HCC.
Title: Dysregulation of GTPase IMAP family members in hepatocellular cancer.
gimap5 has a role in maintaining peripheral tolerance and T cell homeostasis in the gut [review]
Title: Central role of gimap5 in maintaining peripheral tolerance and T cell homeostasis in the gut.
Data indicate that overexpression of GTPase of the immune-associated nucleotide-binding protein 5 (GIMAP5) in HEK (human embryonic kidney)-293 cells resulted in increased Ca2+ accumulation within the mitochondria.
Title: GTPase of the immune-associated nucleotide-binding protein 5 (GIMAP5) regulates calcium influx in T-lymphocytes by promoting mitochondrial calcium accumulation.
Notch signalling protects T-ALL cells from apoptosis by upregulating the expression of GIMAP5.
Title: Notch protection against apoptosis in T-ALL cells mediated by GIMAP5.
These data establish Gimap5 as a key regulator of hematopoietic integrity and lymphocyte homeostasis
Title: Loss of T cell and B cell quiescence precedes the onset of microbial flora-dependent wasting disease and intestinal inflammation in Gimap5-deficient mice.
Data show that IAN5 polymorphisms are associated with susceptibility to Systemic lupus erythematosus and the development of clinical disease manifestations in a strictly Korean population.
Title: IAN5 polymorphisms are associated with systemic lupus erythematosus.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: IAN5 polymorphisms are associated with systemic lupus erythematosus.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Portal hypertension, noncirrhotic, 2 MedGen: C5561948 OMIM: 619463 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

IAN4L1_998 (e-PCR)
- UniSTS:277343

IAN4L1_V267 (e-PCR)
- UniSTS:277343

D7S2911 (e-PCR)
- UniSTS:9106

RH98738 (e-PCR)
- UniSTS:84665

Readthrough GIMAP1-GIMAP5

Readthrough gene: GIMAP1-GIMAP5, Included gene: GIMAP1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in multivesicular body membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: GTPase IMAP family member 5

Names: immune associated nucleotide 4 like 1; immune-associated nucleotide-binding protein 5; immunity associated protein 3; immunity-associated nucleotide 5 protein; inhibitor of radiation- and OA-induced apoptosis, Irod/Ian5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.