IRGC immunity related GTPase cinema [Homo sapiens (human)] - Gene

Summary

Official Symbol: IRGCprovided by HGNC
Official Full Name: immunity related GTPase cinemaprovided by HGNC
Primary source: HGNC:HGNC:28835
See related: Ensembl:ENSG00000124449 MIM:620634; AllianceGenome:HGNC:28835
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IFGGE; IRGC1; Iigp5; CINEMA; R30953_1
Summary: Predicted to enable GTPase activity. Predicted to be involved in cellular response to interferon-beta and defense response. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis (RPKM 28.8) See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.31

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (43716076..43720021)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (46538808..46542768)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (44220228..44224173)

Chromosome 19 - NC_000019.10 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?

The immunity-related GTPase IRGC mediates interaction between lipid droplets and mitochondria to facilitate sperm motility.
Title: The immunity-related GTPase IRGC mediates interaction between lipid droplets and mitochondria to facilitate sperm motility.
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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response to other organism	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in sperm flagellum	IDA Inferred from Direct Assay more info	PubMed
located_in sperm mitochondrial sheath	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: interferon-inducible GTPase 5

Names: immunity-related GTPase cinema 1; immunity-related GTPase family, cinema 1; interferon-gamma-inducible GTPase IFGGE 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_019612.4 → NP_062558.1 interferon-inducible GTPase 5

See identical proteins and their annotated locations for NP_062558.1

Status: VALIDATED

Source sequence(s)

BC033853, BC066939

Consensus CDS

CCDS12629.1

UniProtKB/Swiss-Prot

Q05BR8, Q6NXR0

UniProtKB/TrEMBL

J7NNX4

Related

ENSP00000244314.5, ENST00000244314.6

Conserved Domains (2) summary

cd04104
Location:54 → 250

p47_IIGP_like; p47 GTPase family includes IGTP, TGTP/Mg21, IRG-47, GTPI, LRG-47, and IIGP1

cl26332
Location:12 → 76

DUF258; Protein of unknown function, DUF258

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

43716076..43720021

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527118.4 → XP_011525420.1 interferon-inducible GTPase 5 isoform X2

See identical proteins and their annotated locations for XP_011525420.1

UniProtKB/Swiss-Prot

Q05BR8, Q6NXR0

UniProtKB/TrEMBL

J7NNX4

Conserved Domains (2) summary

cd04104
Location:54 → 250

p47_IIGP_like; p47 GTPase family includes IGTP, TGTP/Mg21, IRG-47, GTPI, LRG-47, and IIGP1

cl26332
Location:12 → 76

DUF258; Protein of unknown function, DUF258
XM_005259058.4 → XP_005259115.1 interferon-inducible GTPase 5 isoform X1

See identical proteins and their annotated locations for XP_005259115.1

Conserved Domains (3) summary

cd04104
Location:91 → 287

p47_IIGP_like; p47 GTPase family includes IGTP, TGTP/Mg21, IRG-47, GTPI, LRG-47, and IIGP1

pfam05049
Location:59 → 440

IIGP; Interferon-inducible GTPase (IIGP)

cl21455
Location:55 → 113

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_006723283.4 → XP_006723346.1 interferon-inducible GTPase 5 isoform X2

See identical proteins and their annotated locations for XP_006723346.1

UniProtKB/Swiss-Prot

Q05BR8, Q6NXR0

UniProtKB/TrEMBL

J7NNX4

Conserved Domains (2) summary

cd04104
Location:54 → 250

p47_IIGP_like; p47 GTPase family includes IGTP, TGTP/Mg21, IRG-47, GTPI, LRG-47, and IIGP1

cl26332
Location:12 → 76

DUF258; Protein of unknown function, DUF258

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

46538808..46542768

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054321467.1 → XP_054177442.1 interferon-inducible GTPase 5 isoform X1
XM_054321469.1 → XP_054177444.1 interferon-inducible GTPase 5 isoform X2

UniProtKB/Swiss-Prot

Q05BR8, Q6NXR0

UniProtKB/TrEMBL

J7NNX4
XM_054321468.1 → XP_054177443.1 interferon-inducible GTPase 5 isoform X2

UniProtKB/Swiss-Prot

Q05BR8, Q6NXR0

UniProtKB/TrEMBL

J7NNX4