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RAB30 RAB30, member RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 27314, updated on 13-Mar-2020

Summary

Official Symbol
RAB30provided by HGNC
Official Full Name
RAB30, member RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:9770
See related
Ensembl:ENSG00000137502 MIM:605693
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
Expression
Ubiquitous expression in brain (RPKM 7.4), lymph node (RPKM 5.8) and 24 other tissues See more
Orthologs

Genomic context

See RAB30 in Genome Data Viewer
Location:
11q14.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (82973133..83071897, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (82684177..82782965, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene prolylcarboxypeptidase Neighboring gene DNA damage induced apoptosis suppressor Neighboring gene ribosomal protein L7a pseudogene 54 Neighboring gene small nucleolar RNA, H/ACA box 70E Neighboring gene RAB30 divergent transcript Neighboring gene cytochrome c oxidase subunit 5B pseudogene 4

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

Phenotypes

NHGRI GWAS Catalog

Description
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
NHGRI GWA Catalog
The genetic architecture of economic and political preferences.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34866

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Rab protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi cisterna IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
Golgi stack TAS
Traceable Author Statement
more info
PubMed 
cis-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_001286059.2NP_001272988.1  ras-related protein Rab-30

    See identical proteins and their annotated locations for NP_001272988.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, and 4 encode the same protein.
    Source sequence(s)
    AK291376, AP000893
    Consensus CDS
    CCDS8264.1
    UniProtKB/Swiss-Prot
    Q15771
    UniProtKB/TrEMBL
    A8K5R1
    Related
    ENSP00000260056.2, ENST00000260056.6
    Conserved Domains (1) summary
    cd04114
    Location:3171
    Rab30; Rab GTPase family 30 (Rab30)
  2. NM_001286060.2NP_001272989.1  ras-related protein Rab-30

    See identical proteins and their annotated locations for NP_001272989.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
    Source sequence(s)
    AK312323, AP000893, DB151524
    Consensus CDS
    CCDS8264.1
    UniProtKB/Swiss-Prot
    Q15771
    UniProtKB/TrEMBL
    A8K5R1
    Related
    ENSP00000435089.1, ENST00000527633.6
    Conserved Domains (1) summary
    cd04114
    Location:3171
    Rab30; Rab GTPase family 30 (Rab30)
  3. NM_001286061.1NP_001272990.1  ras-related protein Rab-30

    See identical proteins and their annotated locations for NP_001272990.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
    Source sequence(s)
    AP000893, BP336371
    Consensus CDS
    CCDS8264.1
    UniProtKB/Swiss-Prot
    Q15771
    UniProtKB/TrEMBL
    A8K5R1
    Related
    ENSP00000478702.1, ENST00000612684.4
    Conserved Domains (1) summary
    cd04114
    Location:3171
    Rab30; Rab GTPase family 30 (Rab30)
  4. NM_014488.5NP_055303.2  ras-related protein Rab-30

    See identical proteins and their annotated locations for NP_055303.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
    Source sequence(s)
    AP000893, BC014213, DB151524
    Consensus CDS
    CCDS8264.1
    UniProtKB/Swiss-Prot
    Q15771
    UniProtKB/TrEMBL
    A8K5R1
    Related
    ENSP00000435189.1, ENST00000533486.5
    Conserved Domains (1) summary
    cd04114
    Location:3171
    Rab30; Rab GTPase family 30 (Rab30)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    82973133..83071897 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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