Human Gene RABL6 (ENST00000311502.12) from GENCODE V44
  Description: Homo sapiens RAB, member RAS oncogene family like 6 (RABL6), transcript variant 1, mRNA. (from RefSeq NM_024718)
RefSeq Summary (NM_024718): 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].
Gencode Transcript: ENST00000311502.12
Gencode Gene: ENSG00000196642.19
Transcript (Including UTRs)
   Position: hg38 chr9:136,807,948-136,841,187 Size: 33,240 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr9:136,808,197-136,840,522 Size: 32,326 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:136,807,948-136,841,187)mRNA (may differ from genome)Protein (729 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RABL6_HUMAN
DESCRIPTION: RecName: Full=Rab-like protein 6; AltName: Full=GTP-binding protein Parf; AltName: Full=Partner of ARF; AltName: Full=Rab-like protein 1; Short=RBEL1;
FUNCTION: May enhance cellular proliferation. May reduce growth inhibitory activity of CDKN2A.
INTERACTION: Q99750:MDFI; NbExp=2; IntAct=EBI-742029, EBI-724076; P58062:SPINK7; NbExp=3; IntAct=EBI-742029, EBI-1182445;
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Note=Predominantly cytoplasmic.
SUBCELLULAR LOCATION: Isoform 3: Nucleus. Note=Predominantly nuclear.
PTM: Isoform 1 is O-glycosylated, while other isoforms are not.
SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
SEQUENCE CAUTION: Sequence=AAH02945.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH21095.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH35786.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14408.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB55213.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RABL6
Diseases sorted by gene-association score: pancreatic neuroendocrine tumor (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.43 RPKM in Brain - Cerebellum
Total median expression: 703.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -157.20249-0.631 Picture PostScript Text
3' UTR -335.00665-0.504 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013684 - MIRO-like
IPR001806 - Small_GTPase

Pfam Domains:
PF08477 - Ras of Complex, Roc, domain of DAPkinase

ModBase Predicted Comparative 3D Structure on Q3YEC7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK307431 - Homo sapiens cDNA, FLJ97379.
BC035786 - Homo sapiens chromosome 9 open reading frame 86, mRNA (cDNA clone IMAGE:5728463), partial cds.
BC018960 - Homo sapiens chromosome 9 open reading frame 86, mRNA (cDNA clone IMAGE:3353781).
BC002945 - Homo sapiens chromosome 9 open reading frame 86, mRNA (cDNA clone MGC:10629 IMAGE:3954912), complete cds.
EF156752 - Homo sapiens Rab-like GTP-binding protein 1A mRNA, complete cds.
EF156753 - Homo sapiens Rab-like GTP-binding protein 1B mRNA, complete cds.
DQ141240 - Homo sapiens PARF mRNA, complete cds.
BC021095 - Homo sapiens chromosome 9 open reading frame 86, mRNA (cDNA clone MGC:31800 IMAGE:4588378), complete cds.
AK094382 - Homo sapiens cDNA FLJ37063 fis, clone BRACE2014824, highly similar to Homo sapiens serine arginine-rich pre-mRNA splicing factor SR-A1 (SR-A1), mRNA.
JF432819 - Synthetic construct Homo sapiens clone IMAGE:100074137 chromosome 9 open reading frame 86 (C9orf86) gene, encodes complete protein.
KJ904810 - Synthetic construct Homo sapiens clone ccsbBroadEn_14204 C9orf86 gene, encodes complete protein.
AK001184 - Homo sapiens cDNA FLJ10322 fis, clone NT2RM2000522, weakly similar to SKIN SECRETORY PROTEIN XP2 PRECURSOR.
AK128154 - Homo sapiens cDNA FLJ46277 fis, clone TESTI4029731.
AK027586 - Homo sapiens cDNA FLJ14680 fis, clone NT2RP2004242, weakly similar to NEUROFILAMENT TRIPLET H PROTEIN.
AK000963 - Homo sapiens cDNA FLJ10101 fis, clone HEMBA1002475, weakly similar to SKIN SECRETORY PROTEIN XP2 PRECURSOR.
KJ902857 - Synthetic construct Homo sapiens clone ccsbBroadEn_12251 C9orf86 gene, encodes complete protein.
AK098086 - Homo sapiens cDNA FLJ40767 fis, clone TRACH2003484.
AL713707 - Homo sapiens mRNA; cDNA DKFZp547I226 (from clone DKFZp547I226).
BC024964 - Homo sapiens chromosome 9 open reading frame 86, mRNA (cDNA clone IMAGE:4932334).
AB075864 - Homo sapiens mRNA for KIAA1984 protein.
BC007542 - Homo sapiens KIAA1984, mRNA (cDNA clone IMAGE:2958849), complete cds.
GQ169126 - Homo sapiens Rab-like GTP-binding protein 1C (RBEL1) mRNA, complete cds, alternatively spliced.
GQ169127 - Homo sapiens Rab-like GTP-binding protein 1D (RBEL1) mRNA, complete cds, alternatively spliced.
JD523215 - Sequence 504239 from Patent EP1572962.
CU678306 - Synthetic construct Homo sapiens gateway clone IMAGE:100020261 5' read C9orf86 mRNA.
AK023107 - Homo sapiens cDNA FLJ13045 fis, clone NT2RP3001356.
JD447981 - Sequence 429005 from Patent EP1572962.
JD395865 - Sequence 376889 from Patent EP1572962.
JD476433 - Sequence 457457 from Patent EP1572962.
AF318367 - Homo sapiens pp8875 mRNA, complete cds.
DQ099383 - Homo sapiens chromosome 9 open reading frame 86 mRNA, complete cds, alternatively spliced.
CU676816 - Synthetic construct Homo sapiens gateway clone IMAGE:100017431 5' read C9orf86 mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: A8QVZ7, A8QVZ8, C6K8I4, C6K8I5, C9orf86, ENST00000311502.1, ENST00000311502.10, ENST00000311502.11, ENST00000311502.2, ENST00000311502.3, ENST00000311502.4, ENST00000311502.5, ENST00000311502.6, ENST00000311502.7, ENST00000311502.8, ENST00000311502.9, NM_024718, PARF, Q3YEC7, Q4F968, Q5T5R7, Q8IWK1, Q8TCL4, Q8WU94, Q96SR8, Q9BU21, Q9H935, RABL6_HUMAN, uc004cji.1, uc004cji.2, uc004cji.3
UCSC ID: ENST00000311502.12
RefSeq Accession: NM_024718
Protein: Q3YEC7 (aka RABL6_HUMAN)
CCDS: CCDS48058.1, CCDS55352.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.