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    GARIN1B golgi associated RAB2 interactor 1B [ Homo sapiens (human) ]

    Gene ID: 84691, updated on 28-Oct-2024

    Summary

    Official Symbol
    GARIN1Bprovided by HGNC
    Official Full Name
    golgi associated RAB2 interactor 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:30704
    See related
    Ensembl:ENSG00000135248 MIM:619905; AllianceGenome:HGNC:30704
    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
    GARIL1; FAM137A; FAM71F1; GARI-L1; NYD-SP18
    Summary
    Predicted to be involved in acrosome assembly and acrosome reaction. Predicted to be located in Golgi apparatus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Restricted expression toward testis (RPKM 24.4) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GARIN1B in Genome Data Viewer
    Location:
    7q32.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128709061..128731743)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130021222..130043893)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128349115..128371797)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene golgi associated RAB2 interactor 1A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:128341516-128342715 Neighboring gene RNA, 5S ribosomal pseudogene 242 Neighboring gene RNA, 5S ribosomal pseudogene 243 Neighboring gene uncharacterized LOC124901825 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 Neighboring gene blue cone (S) opsin upstream regulatory region Neighboring gene opsin 1, short wave sensitive

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    involved_in acrosome reaction 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

    Preferred Names
    Golgi-associated RAB2 interactor protein 1B
    Names
    Golgi associated RAB2 interactor protein 1B
    Golgi-associated RAB2B interactor like 1
    family with sequence similarity 137, member A
    family with sequence similarity 71 member F1
    protein FAM71F1
    testes development-related NYD-SP18
    testicular tissue protein Li 67
    testis development protein NYD-SP18

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001282788.3NP_001269717.1  Golgi-associated RAB2 interactor protein 1B isoform 2

      See identical proteins and their annotated locations for NP_001269717.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame acceptor splice site in the 3' coding region compared to variant 1. The resulting isoform (2) is 2 aa shorter than isoform 1.
      Source sequence(s)
      AC018638, AC024952
      Consensus CDS
      CCDS94192.1
      UniProtKB/Swiss-Prot
      Q96KD3
      Related
      ENSP00000477573.2, ENST00000621392.5
      Conserved Domains (1) summary
      pfam12480
      Location:140208
      DUF3699; Protein of unknown function (DUF3699)
    2. NM_001282789.2NP_001269718.1  Golgi-associated RAB2 interactor protein 1B isoform 3

      See identical proteins and their annotated locations for NP_001269718.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains 2 alternate exons at the 5' end and uses 2 alternate in-frame acceptor splice sites compared to variant 1. The former difference results in translation initiation from an upstream start codon and a shorter isoform (3) with a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK093161, AK302221, BC032842
      Consensus CDS
      CCDS64763.1
      UniProtKB/Swiss-Prot
      Q96KD3
      UniProtKB/TrEMBL
      B4DY15
      Related
      ENSP00000418192.1, ENST00000485070.5
      Conserved Domains (1) summary
      pfam12480
      Location:36109
      DUF3699; Protein of unknown function (DUF3699)
    3. NM_032599.4NP_115988.1  Golgi-associated RAB2 interactor protein 1B isoform 1

      See identical proteins and their annotated locations for NP_115988.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF367470, BC032842, HY051242
      Consensus CDS
      CCDS5804.1
      UniProtKB/Swiss-Prot
      Q8IY75, Q8NA48, Q96KD3
      UniProtKB/TrEMBL
      A0A140VJJ3
      Related
      ENSP00000326652.4, ENST00000315184.9
      Conserved Domains (1) summary
      pfam12480
      Location:138208
      DUF3699; Protein of unknown function (DUF3699)

    RNA

    1. NR_104242.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an additional internal exon and uses an alternate acceptor splice site compared to variant 1. This variant is represented as non-coding because use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK310308, BC032842, HY051242
    2. NR_104243.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains several differences, including 2 exons at the 5' end and an internal exon, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translation start codon renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK302221, AK310308, BC032842, BC040906
      Related
      ENST00000484425.6

    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
      128709061..128731743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420990.1XP_047276946.1  Golgi-associated RAB2 interactor protein 1B isoform X4

    2. XM_047420991.1XP_047276947.1  Golgi-associated RAB2 interactor protein 1B isoform X4

    3. XM_047420987.1XP_047276943.1  Golgi-associated RAB2 interactor protein 1B isoform X1

    4. XM_047420988.1XP_047276944.1  Golgi-associated RAB2 interactor protein 1B isoform X2

    5. XM_047420989.1XP_047276945.1  Golgi-associated RAB2 interactor protein 1B isoform X3

      Related
      ENSP00000418672.1, ENST00000471558.5
    6. XM_047420992.1XP_047276948.1  Golgi-associated RAB2 interactor protein 1B isoform X4

    RNA

    1. XR_007060168.1 RNA Sequence

    2. XR_007060169.1 RNA Sequence

    3. XR_007060170.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      130021222..130043893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359268.1XP_054215243.1  Golgi-associated RAB2 interactor protein 1B isoform X4

    2. XM_054359269.1XP_054215244.1  Golgi-associated RAB2 interactor protein 1B isoform X4

    3. XM_054359267.1XP_054215242.1  Golgi-associated RAB2 interactor protein 1B isoform X3

    4. XM_054359265.1XP_054215240.1  Golgi-associated RAB2 interactor protein 1B isoform X1

    5. XM_054359266.1XP_054215241.1  Golgi-associated RAB2 interactor protein 1B isoform X2

    6. XM_054359270.1XP_054215245.1  Golgi-associated RAB2 interactor protein 1B isoform X4

    RNA

    1. XR_008487766.1 RNA Sequence

    2. XR_008487767.1 RNA Sequence

    3. XR_008487768.1 RNA Sequence