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GARIN1A golgi associated RAB2 interactor 1A [ Homo sapiens (human) ]

Gene ID: 346653, updated on 2-Nov-2024

Summary

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Official Symbol
GARIN1Aprovided by HGNC
Official Full Name
golgi associated RAB2 interactor 1Aprovided by HGNC
Primary source
HGNC:HGNC:27998
See related
Ensembl:ENSG00000205085 MIM:619904; AllianceGenome:HGNC:27998
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
GARI; FAM137B; FAM71F2
Summary
Predicted to be involved in acrosome assembly. Predicted to be located in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 2.7), fat (RPKM 0.3) and 10 other tissues See more
Orthologs
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Genomic context

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See GARIN1A in Genome Data Viewer
Location:
7q32.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128671629..128709166)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (129983863..130021327)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128312346..128327931)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 177, pseudogene Neighboring gene long intergenic non-protein coding RNA 1000 Neighboring gene capicua transcriptional repressor pseudogene 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128333635-128334135 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:128341516-128342715 Neighboring gene RNA, 5S ribosomal pseudogene 243 Neighboring gene RNA, 5S ribosomal pseudogene 242 Neighboring gene IMP3 pseudogene 2 Neighboring gene uncharacterized LOC124901825 Neighboring gene golgi associated RAB2 interactor 1B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26603 Neighboring gene calumenin Neighboring gene RNA, 7SL, cytoplasmic 81, pseudogene

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 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. FAM71F1 binds to RAB2A and RAB2B and is essential for acrosome formation and male fertility in mice. Morohoshi A, et al. Development, 2021 Nov 1. PMID 34714330, Free PMC Article
  2. Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificity. Fukuda M, et al. Mol Cell Proteomics, 2008 Jun. PMID 18256213
  3. Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns. Szafranski K, et al. Genome Biol, 2007. PMID 17672918, Free PMC Article
  4. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. validated occurrence of an unusual TG 3' splice site in intron 1
    Title: Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
Submit: New GeneRIF Correction

Phenotypes

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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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in acrosome assembly 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 1A
Names
Golgi associated RAB2 interactor protein 1A
Golgi-associated RAB2B interactor
family with sequence similarity 137, member B
family with sequence similarity 71 member F2
protein FAM71F2

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.

Genomic

  1. NG_034049.2 RefSeqGene

    Range
    5665..21250
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012454.6 → NP_001012457.3  Golgi-associated RAB2 interactor protein 1A isoform a

    See identical proteins and their annotated locations for NP_001012457.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC018638, BC047310, BC066973
    Consensus CDS
    CCDS47701.1
    UniProtKB/Swiss-Prot
    Q0VGF6, Q0VGF7, Q6NXP2, Q86X39
    UniProtKB/TrEMBL
    A0A804HJA3
    Related
    ENSP00000493102.1, ENST00000641605.1
    Conserved Domains (1) summary
    pfam12480
    Location:114 → 185
    DUF3699; Protein of unknown function (DUF3699)

  2. NM_001128926.4 → NP_001122398.1  Golgi-associated RAB2 interactor protein 1A isoform b

    See identical proteins and their annotated locations for NP_001122398.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site in the 5' coding region compared to variant 1. The resulting shorter isoform (b) lacks a 9 aa protein segment compared to isoform a.
    Source sequence(s)
    AC018638, BC105730, HY039605
    Consensus CDS
    CCDS47702.1
    UniProtKB/TrEMBL
    A0A804HJA3
    Related
    ENSP00000506740.1, ENST00000682356.1
    Conserved Domains (1) summary
    pfam12480
    Location:111 → 176
    DUF3699; Protein of unknown function (DUF3699)

  3. NM_001290254.2 → NP_001277183.1  Golgi-associated RAB2 interactor protein 1A isoform c

    See identical proteins and their annotated locations for NP_001277183.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an alternate exon and initiates translation at a downstream AUG compared to variant 1. The encoded protein (isoform c) has a shorter N-terminus compared to isoform a. Variants 3 and 4 encode the same protein.
    Source sequence(s)
    AC018638, HY046252
    Conserved Domains (1) summary
    pfam12480
    Location:25 → 90
    DUF3699; Protein of unknown function (DUF3699)

  4. NM_001290255.2 → NP_001277184.1  Golgi-associated RAB2 interactor protein 1A isoform c

    See identical proteins and their annotated locations for NP_001277184.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has an alternate exon, uses an alternate acceptor splice site, and initiates translation at a downstream AUG compared to variant 1. The encoded protein (isoform c) has a shorter N-terminus compared to isoform a. Variants 3 and 4 encode the same protein.
    Source sequence(s)
    AC018638, HY039605
    Conserved Domains (1) summary
    pfam12480
    Location:25 → 90
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    128671629..128709166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_007060032.1 RNA Sequence

  2. XR_007060031.1 RNA Sequence

  3. XR_007060024.1 RNA Sequence

  4. XR_007060033.1 RNA Sequence

  5. XR_007060030.1 RNA Sequence

  6. XR_007060022.1 RNA Sequence

  7. XR_007060023.1 RNA Sequence

  8. XR_007060028.1 RNA Sequence

  9. XR_007060025.1 RNA Sequence

  10. XR_007060026.1 RNA Sequence

    Related
    ENST00000684742.1

  11. XR_007060021.1 RNA Sequence

  12. XR_007060029.1 RNA Sequence

  13. XR_007060027.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    129983863..130021327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008487609.1 RNA Sequence

  2. XR_008487608.1 RNA Sequence

  3. XR_008487602.1 RNA Sequence

  4. XR_008487610.1 RNA Sequence

  5. XR_008487600.1 RNA Sequence

  6. XR_008487601.1 RNA Sequence

  7. XR_008487606.1 RNA Sequence

  8. XR_008487603.1 RNA Sequence

  9. XR_008487604.1 RNA Sequence

  10. XR_008487599.1 RNA Sequence

  11. XR_008487607.1 RNA Sequence

  12. XR_008487605.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6NXP2.3 GenPept UniProtKB/Swiss-Prot:Q6NXP2

Gene LinkOut

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