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    ARFGEF3 ARFGEF family member 3 [ Homo sapiens (human) ]

    Gene ID: 57221, updated on 27-Nov-2024

    Summary

    Official Symbol
    ARFGEF3provided by HGNC
    Official Full Name
    ARFGEF family member 3provided by HGNC
    Primary source
    HGNC:HGNC:21213
    See related
    Ensembl:ENSG00000112379 MIM:617411; AllianceGenome:HGNC:21213
    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
    BIG3; A7322; C6orf92; PPP1R33; KIAA1244; dJ171N11.1
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of ARF protein signal transduction. Predicted to be located in Golgi apparatus and transport vesicle membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 10.4), prostate (RPKM 8.3) and 15 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ARFGEF3 in Genome Data Viewer
    Location:
    6q23.3-q24.1
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (138161939..138344663)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (139350430..139533149)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (138483076..138665800)

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32064, KIAA1244

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in regulation of ARF protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    brefeldin A-inhibited guanine nucleotide-exchange protein 3
    Names
    protein phosphatase 1, regulatory subunit 33

    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_020340.5NP_065073.3  brefeldin A-inhibited guanine nucleotide-exchange protein 3

      See identical proteins and their annotated locations for NP_065073.3

      Status: VALIDATED

      Source sequence(s)
      AB252196, BU682567
      Consensus CDS
      CCDS5189.2
      UniProtKB/Swiss-Prot
      C5NM88, Q5TH69, Q76MU8, Q8N4Y4, Q96CH9, Q96P46, Q9ULH6
      UniProtKB/TrEMBL
      B5MDV5
      Related
      ENSP00000251691.4, ENST00000251691.5
      Conserved Domains (4) summary
      smart00222
      Location:586798
      Sec7; Sec7 domain
      pfam03426
      Location:19762055
      CBM_15; Carbohydrate binding domain (family 15)
      pfam09324
      Location:12461303
      DUF1981; Domain of unknown function (DUF1981)
      pfam16213
      Location:5168
      DCB; Dimerization and cyclophilin-binding domain of Mon2

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      138161939..138344663
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419108.1XP_047275064.1  brefeldin A-inhibited guanine nucleotide-exchange protein 3 isoform X1

    RNA

    1. XR_001743524.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      139350430..139533149
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355992.1XP_054211967.1  brefeldin A-inhibited guanine nucleotide-exchange protein 3 isoform X1

    RNA

    1. XR_008487366.1 RNA Sequence