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GARIN3 golgi associated RAB2B interactor family member 3 [ Homo sapiens (human) ]

Gene ID: 153745, updated on 9-Jan-2022

Summary

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Official Symbol
GARIN3provided by HGNC
Official Full Name
golgi associated RAB2B interactor family member 3provided by HGNC
Primary source
HGNC:HGNC:28397
See related
Ensembl:ENSG00000170613
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 2021]
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
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (157161846..157166264, complement)
105.20201022 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 hepatitis A virus cellular receptor 2 Neighboring gene mediator complex subunit 7 Neighboring gene IL2 inducible T cell kinase Neighboring gene cytoplasmic FMR1 interacting protein 2 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. Proteomic characterization of the human sperm nucleus. de Mateo S, et al. Proteomics, 2011 Jul. PMID 21630459

See all (8) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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)

Genotypes

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 nucleus HDA PubMed 

General protein information

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Preferred Names
protein FAM71B
Names
family with sequence similarity 71 member B
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  protein FAM71B

    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
    Q8TC56
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    157161846..157166264 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.

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