Human Gene RAB40AL (uc004ejs.3)
  Description: Homo sapiens RAB40A, member RAS oncogene family-like (RAB40AL), mRNA.
RefSeq Summary (NM_001031834): This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. Disruptions in this gene are associated with Duchenne muscular dystrophy. [provided by RefSeq, Apr 2010].
Transcript (Including UTRs)
   Position: hg19 chrX:102,192,200-102,193,228 Size: 1,029 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chrX:102,192,247-102,193,083 Size: 837 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:102,192,200-102,193,228)mRNA (may differ from genome)Protein (278 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RB40L_HUMAN
DESCRIPTION: RecName: Full=Ras-related protein Rab-40A-like; AltName: Full=Ras-like GTPase;
FUNCTION: May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity).
PATHWAY: Protein modification; protein ubiquitination.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Mitochondrion.
TISSUE SPECIFICITY: Expressed in brain, heart, skeletal muscle, kidney and liver. Highest expression in brain.
DOMAIN: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes (By similarity).
SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
SIMILARITY: Contains 1 SOCS box domain.

-  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: RAB40AL
Diseases sorted by gene-association score: mental retardation, x-linked, syndromic, martin-probst type* (440), duchenne muscular dystrophy (10)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.28 RPKM in Brain - Cerebellum
Total median expression: 4.23 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.8047-0.549 Picture PostScript Text
3' UTR -34.14145-0.235 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
IPR005225 - Small_GTP-bd_dom
IPR001806 - Small_GTPase
IPR003579 - Small_GTPase_Rab_type
IPR001496 - SOCS_C

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00071 - Ras family
PF07525 - SOCS box
PF08477 - Ras of Complex, Roc, domain of DAPkinase

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on P0C0E4
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

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

Biological Process:
GO:0016567 protein ubiquitination
GO:0035556 intracellular signal transduction
GO:0072659 protein localization to plasma membrane
GO:0006904 vesicle docking involved in exocytosis
GO:0009306 protein secretion
GO:0017157 regulation of exocytosis

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0008021 synaptic vesicle
GO:0016020 membrane
GO:0030667 secretory granule membrane


-  Descriptions from all associated GenBank mRNAs
  BC101169 - Homo sapiens RAB40A, member RAS oncogene family-like, mRNA (cDNA clone MGC:119958 IMAGE:40016064), complete cds.
BC101170 - Homo sapiens RAB40A, member RAS oncogene family-like, mRNA (cDNA clone MGC:119959 IMAGE:40016065), complete cds.
BC101171 - Homo sapiens RAB40A, member RAS oncogene family-like, mRNA (cDNA clone MGC:119960 IMAGE:40016067), complete cds.
BC101172 - Homo sapiens RAB40A, member RAS oncogene family-like, mRNA (cDNA clone MGC:119961 IMAGE:40016069), complete cds.
KJ895948 - Synthetic construct Homo sapiens clone ccsbBroadEn_05342 RAB40AL gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001031834, NP_001027004, P0C0E4, Q495H3, RB40L_HUMAN, RLGP
UCSC ID: uc004ejs.3
RefSeq Accession: NM_001031834
Protein: P0C0E4 (aka RB40L_HUMAN)
CCDS: CCDS35353.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001031834.1
exon count: 1CDS single in 3' UTR: no RNA size: 1029
ORF size: 837CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1874.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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