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

Gene ID: 115273, updated on 5-Mar-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 involved in Ras protein signal transduction. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
1p35.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (28592265..28596666)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (28434229..28438630)
105.20220307 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
  • 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
  
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_2023_10

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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