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    RABIF RAB interacting factor [ Homo sapiens (human) ]

    Gene ID: 5877, updated on 9-Dec-2024

    Summary

    Official Symbol
    RABIFprovided by HGNC
    Official Full Name
    RAB interacting factorprovided by HGNC
    Primary source
    HGNC:HGNC:9797
    See related
    Ensembl:ENSG00000183155 MIM:603417; AllianceGenome:HGNC:9797
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MSS4; RASGFR3; RASGRF3
    Summary
    This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange in SEC4, and to a lesser extent in YPT1 and RAB3A, and may play a general role in vesicular transport. [provided by RefSeq, Oct 2011]
    Expression
    Broad expression in testis (RPKM 8.2), brain (RPKM 4.5) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RABIF in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (202878282..202889149, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202140962..202151831, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202847410..202858277, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1708 Neighboring gene tubulin alpha 5, pseudogene Neighboring gene actin gamma 1 pseudogene 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202853813-202854312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2337 Neighboring gene kelch like family member 12 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 59 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202897631-202898132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202898133-202898632 Neighboring gene Sharpr-MPRA regulatory region 11793 Neighboring gene adiponectin receptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1710

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables guanyl-nucleotide exchange factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in membrane fusion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in post-Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    guanine nucleotide exchange factor MSS4
    Names
    Ras-specific guanine-releasing factor 3
    mammalian suppressor of SEC4
    rab-interacting factor

    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_002871.5NP_002862.2  guanine nucleotide exchange factor MSS4

      See identical proteins and their annotated locations for NP_002862.2

      Status: REVIEWED

      Source sequence(s)
      AC098934
      Consensus CDS
      CCDS1428.1
      UniProtKB/Swiss-Prot
      B2R4P4, P47224, Q92992
      UniProtKB/TrEMBL
      Q53EV1
      Related
      ENSP00000356231.3, ENST00000367262.4
      Conserved Domains (1) summary
      cd00246
      Location:19123
      RabGEF; Nucleotide exchange factor for Rab-like small GTPases (RabGEF), Mss4 type; RabGEF positely regulates the function of Rab GTPase by promoting exchange of GDP for GTP; members of the Rab subfamily of Ras GTPases are important in vesicular transport;

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      202878282..202889149 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      202140962..202151831 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)