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    GARIN3 golgi associated RAB2 interactor family member 3 [ Homo sapiens (human) ]

    Gene ID: 153745, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GARIN3provided by HGNC
    Official Full Name
    golgi associated RAB2 interactor family member 3provided by HGNC
    Primary source
    HGNC:HGNC:28397
    See related
    Ensembl:ENSG00000170613 MIM:619883; AllianceGenome:HGNC:28397
    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
    FAM71B; GARI-L3
    Summary
    Located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 18.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See GARIN3 in Genome Data Viewer
    Location:
    5q33.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (157161846..157166264, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (157680788..157685206, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (156588857..156593275, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23497 Neighboring gene hepatitis A virus cellular receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23499 Neighboring gene mediator complex subunit 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23503 Neighboring gene IL2 inducible T cell kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:156713648-156714148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:156714149-156714649 Neighboring gene cytoplasmic FMR1 interacting protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16558 Neighboring gene fibronectin type III domain containing 9

    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. FRG1P-mediated aggregation of proteins involved in pre-mRNA processing. van Koningsbruggen S, et al. Chromosoma, 2007 Feb. PMID 17103222
    2. Combining RNA and protein profiling data with network interactions identifies genes associated with spermatogenesis in mouse and human. Petit FG, et al. Biol Reprod, 2015 Mar. PMID 25609838
    3. Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificity. Fukuda M, et al. Mol Cell Proteomics, 2008 Jun. PMID 18256213
    4. The variant Polycomb Repressor Complex 1 component PCGF1 interacts with a pluripotency sub-network that includes DPPA4, a regulator of embryogenesis. Oliviero G, et al. Sci Rep, 2015 Dec 21. PMID 26687479, Free PMC Article
    5. Pro-prion, as a membrane adaptor protein for E3 ligase c-Cbl, facilitates the ubiquitination of IGF-1R, promoting melanoma metastasis. Li H, et al. Cell Rep, 2022 Dec 20. PMID 36543142

    See all (9) citations in PubMed

    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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    Homology

    Clone Names

    • MGC26988

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Cajal body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    Golgi-associated RAB2 interactor protein 3
    Names
    Golgi associated RAB2 interactor protein 3
    family with sequence similarity 71 member B
    golgi associated RAB2B interactor family member 3
    protein FAM71B
    testicular tissue protein Li 68

    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_130899.3 → NP_570969.2  Golgi-associated RAB2 interactor protein 3

      See identical proteins and their annotated locations for NP_570969.2

      Status: VALIDATED

      Source sequence(s)
      AC010609, BC025409
      Consensus CDS
      CCDS4335.1
      UniProtKB/Swiss-Prot
      Q1EDD9, Q8TC56, Q8TC64, Q96LY8
      UniProtKB/TrEMBL
      A0A140VJJ4
      Related
      ENSP00000305596.4, ENST00000302938.4
      Conserved Domains (2) summary
      pfam12480
      Location:113 → 186
      DUF3699; Protein of unknown function (DUF3699)
      cl01503
      Location:225 → 334
      TrbL; TrbL/VirB6 plasmid conjugal transfer protein

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      157161846..157166264 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      157680788..157685206 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC56.2 GenPept UniProtKB/Swiss-Prot:Q8TC56

    Gene LinkOut

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

    Chemical Information
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