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    RAB42 RAB42, member RAS oncogene family [ Homo sapiens (human) ]

    Gene ID: 115273, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RAB42provided by HGNC
    Official Full Name
    RAB42, member RAS oncogene familyprovided by HGNC
    Primary source
    HGNC:HGNC:28702
    See related
    Ensembl:ENSG00000188060 AllianceGenome:HGNC:28702
    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
    Summary
    Predicted to enable GDP binding activity; GTP binding activity; and GTPase activity. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in lymph node (RPKM 2.8), placenta (RPKM 2.4) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAB42 in Genome Data Viewer
    Location:
    1p35.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (28592265..28596666)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (28434229..28438630)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28918777..28923178)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28907091-28907876 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28907877-28908662 Neighboring gene small nucleolar RNA host gene 12 Neighboring gene small nucleolar RNA, H/ACA box 16A Neighboring gene small nucleolar RNA, H/ACA box 44 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28919769-28920505 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28925585-28926166 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28928951-28929451 Neighboring gene TATA-box binding protein associated factor 12 Neighboring gene Sharpr-MPRA regulatory region 12118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28971631-28972130 Neighboring gene TAF12 divergent transcript Neighboring gene RNA, U11 small nuclear

    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 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. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    2. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC45806

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ras-related protein Rab-42
    Names
    RAB42, member RAS homolog family
    putative Ras-related protein Rab-42

    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_001193532.3 → NP_001180461.1  ras-related protein Rab-42 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL513497
      Consensus CDS
      CCDS85943.1
      UniProtKB/Swiss-Prot
      A0A1W2PQ57, B2R5G2, Q8N4Z0
      Related
      ENSP00000491546.1, ENST00000465518.3
      Conserved Domains (1) summary
      cl21455
      Location:8 → 196
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_001385188.1 → NP_001372117.1  ras-related protein Rab-42 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL513497
      Conserved Domains (1) summary
      cl38936
      Location:8 → 86
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_152304.3 → NP_689517.1  ras-related protein Rab-42 isoform 2

      See identical proteins and their annotated locations for NP_689517.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL513497, BC033175, BX110464
      Consensus CDS
      CCDS325.1
      UniProtKB/Swiss-Prot
      Q8N4Z0
      Related
      ENSP00000362932.3, ENST00000373826.3
      Conserved Domains (1) summary
      cl21455
      Location:5 → 83
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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
      28592265..28596666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443959.1 → XP_047299915.1  ras-related protein Rab-42 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      28434229..28438630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334145.1 → XP_054190120.1  ras-related protein Rab-42 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4Z0.2 GenPept UniProtKB/Swiss-Prot:Q8N4Z0

    Gene LinkOut

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

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