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

    Gene ID: 55684, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:24703
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RABL6 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136807948..136841187)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149042110..149075389)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139702400..139735639)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20540 Neighboring gene transmembrane protein 141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139690211-139690712 Neighboring gene Sharpr-MPRA regulatory region 12102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139693993-139694696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20542 Neighboring gene coiled-coil domain containing 183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139695381-139695908 Neighboring gene CCDC183 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:139701344-139701939 and GRCh37_chr9:139701940-139702536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20547 Neighboring gene iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene Neighboring gene nucleolin pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139716743-139717631 Neighboring gene microRNA 4292 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139732768-139733649 Neighboring gene Sharpr-MPRA regulatory region 5679 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:139736293-139737174 and GRCh37_chr9:139737175-139738055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139738056-139738936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20552 Neighboring gene apical junction component 1 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20554 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

    Clone Names

    • FLJ10101, FLJ13045, KIAA1984

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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/TrEMBL
      B3KXX7
      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
      A8QVZ7, A8QVZ8, C6K8I4, C6K8I5, Q3YEC7, Q4F968, Q5T5R7, Q8IWK1, Q8TCL4, Q8WU94, Q96SR8, Q9BU21, Q9H935
      UniProtKB/TrEMBL
      B3KXX7
      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: 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_000009.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149042110..149075389
      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.