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RABL6 RAB, member RAS oncogene family like 6 [ Homo sapiens (human) ]

Gene ID: 55684, updated on 13-Aug-2020

Summary

Official Symbol
RABL6provided by HGNC
Official Full Name
RAB, member RAS oncogene family like 6provided by HGNC
Primary source
HGNC:HGNC:24703
See related
Ensembl:ENSG00000196642 MIM:610615
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
PARF; RBEL1; pp8875; C9orf86
Summary
This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Expression
Ubiquitous expression in colon (RPKM 19.6), prostate (RPKM 17.1) and 25 other tissues See more
Orthologs

Genomic context

See RABL6 in Genome Data Viewer
Location:
9q34.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (136807948..136841187)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139702374..139735639)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 141 Neighboring gene coiled-coil domain containing 183 Neighboring gene CCDC183 antisense RNA 1 Neighboring gene iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene Neighboring gene nucleolin pseudogene 1 Neighboring gene microRNA 4292 Neighboring gene apical junction component 1 homolog Neighboring gene phosphohistidine phosphatase 1

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

Homology

Clone Names

  • FLJ10101, FLJ13045, KIAA1984

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
rab-like protein 6
Names
Rab-like GTP-binding protein 1C
partner of ARF
putative GTP-binding protein Parf

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.

Genomic

  1. NG_031950.1 RefSeqGene

    Range
    5027..38266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001173988.2NP_001167459.1  rab-like protein 6 isoform 3

    See identical proteins and their annotated locations for NP_001167459.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    BC021095, BC035786, CR989427, EF156752
    Consensus CDS
    CCDS55352.1
    UniProtKB/Swiss-Prot
    Q3YEC7
    UniProtKB/TrEMBL
    H0Y4Z8
    Related
    ENSP00000360727.6, ENST00000371663.10
    Conserved Domains (2) summary
    pfam00071
    Location:45222
    Ras; Ras family
    cl21455
    Location:44222
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_001173989.4NP_001167460.1  rab-like protein 6 isoform 4

    See identical proteins and their annotated locations for NP_001167460.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the coding region and uses an alternate splice pattern in the 3' coding region and 3' UTR, compared to variant 3. The resulting isoform (4) lacks one internal residue and has a substantially shorter and distinct C-terminus, compared to isoform 3.
    Source sequence(s)
    DA805618, GQ169126
    Consensus CDS
    CCDS55353.1
    UniProtKB/Swiss-Prot
    Q3YEC7
    Related
    ENSP00000360736.4, ENST00000371671.9
    Conserved Domains (2) summary
    pfam00071
    Location:45221
    Ras; Ras family
    cl21455
    Location:44221
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. NM_024718.5NP_078994.3  rab-like protein 6 isoform 1

    See identical proteins and their annotated locations for NP_078994.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice site in the coding region, compared to variant 3. The resulting isoform (1) lacks one internal residue, compared to isoform 3.
    Source sequence(s)
    BC002945, BC021095, BC035786, CR989427
    Consensus CDS
    CCDS48058.1
    UniProtKB/Swiss-Prot
    Q3YEC7
    Related
    ENSP00000311134.7, ENST00000311502.12
    Conserved Domains (2) summary
    pfam00071
    Location:45221
    Ras; Ras family
    cl21455
    Location:44221
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    136807948..136841187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017995.1: Suppressed sequence

    Description
    NM_017995.1: This RefSeq was permanently suppressed because it represents a poorly supported variant with non-consensus splice sites.
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