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GARIN5A golgi associated RAB2 interactor 5A [ Homo sapiens (human) ]

Gene ID: 112703, updated on 27-Nov-2024

Summary

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Official Symbol
GARIN5Aprovided by HGNC
Official Full Name
golgi associated RAB2 interactor 5Aprovided by HGNC
Primary source
HGNC:HGNC:25107
See related
Ensembl:ENSG00000142530 MIM:619890; AllianceGenome:HGNC:25107
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
GARIL5; FAM71E1
Summary
Predicted to be involved in defense response to virus; innate immune response; and positive regulation of type I interferon production. Predicted to be located in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 25.7), kidney (RPKM 5.6) and 5 other tissues See more
Orthologs
mouse all
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Genomic context

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See GARIN5A in Genome Data Viewer
Location:
19q13.33
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50466788..50476848, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53554302..53564334, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50970045..50980105, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14987 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50930914-50931487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50931488-50932060 Neighboring gene Spi-B transcription factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:50935955-50936713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50937528-50938028 Neighboring gene myosin binding protein C2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:50954383-50954951 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:50970469-50970655 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:50979402-50979902 Neighboring gene ER membrane protein complex subunit 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14991 Neighboring gene MYBPC2 cis regulating lncRNA enhancer of myogenesis Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51004588-51005251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51013121-51013628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51013629-51014135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10971 Neighboring gene Josephin domain containing 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The RAB2B-GARIL5 Complex Promotes Cytosolic DNA-Induced Innate Immune Responses. Takahama M, et al. Cell Rep, 2017 Sep 19. PMID 28930687, Free PMC Article
  2. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article
  3. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

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

Homology

Clone Names

  • FLJ27522, FLJ43757

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in defense response to virus ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in innate immune response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of type I interferon production ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
Golgi-associated RAB2 interactor protein 5A
Names
GARI like 5
Golgi associated RAB2 interactor protein 5A
family with sequence similarity 71 member E1
protein FAM71E1

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)

  1. NM_001308429.2 → NP_001295358.1  Golgi-associated RAB2 interactor protein 5A isoform 1

    See identical proteins and their annotated locations for NP_001295358.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC020909, AK131032, BC071737
    Consensus CDS
    CCDS77337.1
    UniProtKB/Swiss-Prot
    Q6IPT2, Q96EJ5, Q9BSM9
    Related
    ENSP00000472421.2, ENST00000600100.6
    Conserved Domains (1) summary
    pfam12480
    Location:175 → 235
    DUF3699; Protein of unknown function (DUF3699)

  2. NM_138411.3 → NP_612420.1  Golgi-associated RAB2 interactor protein 5A isoform 2

    See identical proteins and their annotated locations for NP_612420.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC020909, BC071737
    Consensus CDS
    CCDS33081.1
    UniProtKB/Swiss-Prot
    Q6IPT2
    Related
    ENSP00000471272.2, ENST00000595790.5
    Conserved Domains (1) summary
    pfam12480
    Location:160 → 219
    DUF3699; Protein of unknown function (DUF3699)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    50466788..50476848 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    53554302..53564334 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6IPT2.2 GenPept UniProtKB/Swiss-Prot:Q6IPT2

Gene LinkOut

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