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

Gene ID: 55684, updated on 8-Feb-2015
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; HPRD:12984; MIM:610615; Vega:OTTHUMG00000020947
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]
Orthologs
See RABL6 in MapViewer
Location:
9q34.3
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (136807922..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 chromosome 9 open reading frame 172 Neighboring gene phosphohistidine phosphatase 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ10101, FLJ13045, KIAA1984

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
rab-like protein 6
Names
rab-like protein 6
Rab-like GTP-binding protein 1C
partner of ARF
putative GTP-binding protein Parf

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
    5001..38266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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
    Related
    ENSP00000360727, ENST00000371663
    Conserved Domains (3) summary
    pfam03546
    Location:274564
    Treacle; Treacher Collins syndrome protein Treacle
    pfam00071
    Location:45222
    Ras; Ras family
    cl21455
    Location:44222
    ABC_ATPase; ATP-binding cassette transporter nucleotide-binding domain
  2. NM_001173989.2NP_001167460.1  rab-like protein 6 isoform 4

    See proteins identical to 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)
    CR989427, DA805618, GQ169126
    Consensus CDS
    CCDS55353.1
    UniProtKB/Swiss-Prot
    Q3YEC7
    Related
    ENSP00000360736, ENST00000371671
    Conserved Domains (2) summary
    pfam00071
    Location:45221
    Ras; Ras family
    cl21455
    Location:44221
    ABC_ATPase; ATP-binding cassette transporter nucleotide-binding domain
  3. NM_024718.4NP_078994.3  rab-like protein 6 isoform 1

    See proteins identical to 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, OTTHUMP00000022614, ENST00000311502, OTTHUMT00000055141
    Conserved Domains (3) summary
    pfam03546
    Location:273563
    Treacle; Treacher Collins syndrome protein Treacle
    pfam00071
    Location:45221
    Ras; Ras family
    cl21455
    Location:44221
    ABC_ATPase; ATP-binding cassette transporter nucleotide-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38 Primary Assembly

    Range
    136807922..136841187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    139850905..139884360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000141.1 Alternate HuRef

    Range
    109161664..109194942
    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.