GIMAP4 GTPase, IMAP family member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GIMAP4provided by HGNC
Official Full Name: GTPase, IMAP family member 4provided by HGNC
Primary source: HGNC:HGNC:21872
See related: Ensembl:ENSG00000133574 MIM:608087; AllianceGenome:HGNC:21872
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: IAN1; IAN-1; IMAP4; MSTP062
Summary: This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]
Expression: Broad expression in lymph node (RPKM 64.9), spleen (RPKM 59.9) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q36.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (150567390..150573953)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (151745701..151752264)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (150264478..150271041)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Prognostic Value of GIMAP4 and Its Role in Promoting Immune Cell Infiltration into Tumor Microenvironment of Lung Adenocarcinoma.
Title: Prognostic Value of GIMAP4 and Its Role in Promoting Immune Cell Infiltration into Tumor Microenvironment of Lung Adenocarcinoma.
GIMAP4 regulates secretion of cytokines in early differentiating human CD4(+) T helper lymphocytes and in particular the secretion of interferon-gamma also affecting its downstream targets.
Title: Tubulin- and actin-associating GIMAP4 is required for IFN-γ secretion during Th cell differentiation.
Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease
Title: Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
GIMAP1 and GIMAP4 genes are up-regulated by IL-12 and other Th1 differentiation-inducing cytokines in cells induced to differentiate toward Th1 lineage and down-regulated by IL-4 in cells induced to Th2.
Title: Quantitative proteomics reveals GIMAP family proteins 1 and 4 to be differentially regulated during human T helper cell differentiation.
molecular and genetic properties; expression in resting T- and B-cells and decreased expression during lymphocyte activation
Title: Human immune associated nucleotide 1: a member of a new guanosine triphosphatase family expressed in resting T and B cells.

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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

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

RH93861 (e-PCR)
- UniSTS:84996

RH45110 (e-PCR)
- UniSTS:11467

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: GTPase IMAP family member 4

Names: human immune associated nucleotide 1; immune-associated nucleotide-binding protein 1; immunity associated protein 4; immunity-associated nucleotide 1 protein

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.

mRNA and Protein(s)

NM_001363532.2 → NP_001350461.1 GTPase IMAP family member 4 isoform 2

Status: REVIEWED

Source sequence(s)

AF117333, AK301441, DA161191

Consensus CDS

CCDS87564.1

UniProtKB/TrEMBL

B4DWA5, G5E9W9

Related

ENSP00000419545.1, ENST00000461940.5

Conserved Domains (2) summary

cd01852
Location:45 → 245

AIG1; AvrRpt2-Induced Gene 1 (AIG1)

cl27055
Location:217 → 316

MutS_III; MutS domain III
NM_018326.3 → NP_060796.1 GTPase IMAP family member 4 isoform 1

See identical proteins and their annotated locations for NP_060796.1

Status: REVIEWED

Source sequence(s)

AF117333, BX476689

Consensus CDS

CCDS5904.1

UniProtKB/Swiss-Prot

Q9NUV9

UniProtKB/TrEMBL

A0A090N7X0, B4DWA5

Related

ENSP00000255945.2, ENST00000255945.4

Conserved Domains (2) summary

cd01852
Location:31 → 231

AIG1; AvrRpt2-Induced Gene 1 (AIG1)

cl27055
Location:203 → 302

MutS_III; MutS domain III