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

    Gene ID: 346653, updated on 10-Dec-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, Dec 2024]
    Expression
    Biased expression in testis (RPKM 2.7), fat (RPKM 0.3) and 10 other tissues See more
    Orthologs
    mouse all
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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
    • 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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    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

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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