Human Gene RAB38 (ENST00000243662.11_7) from GENCODE V47lift37
  Description: RAB38, member RAS oncogene family (from RefSeq NM_022337.3)
Gencode Transcript: ENST00000243662.11_7
Gencode Gene: ENSG00000123892.12_10
Transcript (Including UTRs)
   Position: hg19 chr11:87,846,419-87,908,611 Size: 62,193 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr11:87,847,156-87,908,552 Size: 61,397 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:87,846,419-87,908,611)mRNA (may differ from genome)Protein (211 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RAB38_HUMAN
DESCRIPTION: RecName: Full=Ras-related protein Rab-38; AltName: Full=Melanoma antigen NY-MEL-1;
FUNCTION: May be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1.
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential). Melanosome.
TISSUE SPECIFICITY: Expressed in melanocytes.
PTM: Although at least one in vitro system can process and methylate the prenylated C-terminal, in an in vitro system that normally express Rab-38 and in vivo the prenylated C-terminal is not proteolytically processed and not methylated.
SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/rab38/";

-  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: RAB38
Diseases sorted by gene-association score: hermansky-pudlak syndrome 5 (1)

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

+  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: 28.78 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 167.43 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 -31.4059-0.532 Picture PostScript Text
3' UTR -183.00737-0.248 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

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00071 - Ras family
PF04670 - Gtr1/RagA G protein conserved region
PF08477 - Ras of Complex, Roc, domain of DAPkinase

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

ModBase Predicted Comparative 3D Structure on P57729
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 DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  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
GO:0030742 GTP-dependent protein binding
GO:0035650 AP-1 adaptor complex binding
GO:0035651 AP-3 adaptor complex binding
GO:0036461 BLOC-2 complex binding
GO:0035612 AP-2 adaptor complex binding

Biological Process:
GO:0006996 organelle organization
GO:0007005 mitochondrion organization
GO:0007264 small GTPase mediated signal transduction
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0035646 endosome to melanosome transport
GO:0043687 post-translational protein modification
GO:0060155 platelet dense granule organization
GO:0072657 protein localization to membrane
GO:0090383 phagosome acidification
GO:1903232 melanosome assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005764 lysosome
GO:0005769 early endosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030670 phagocytic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0031982 vesicle
GO:0033162 melanosome membrane
GO:0042470 melanosome
GO:0044233 ER-mitochondrion membrane contact site
GO:0045335 phagocytic vesicle
GO:0031905 early endosome lumen


-  Descriptions from all associated GenBank mRNAs
  BC015808 - Homo sapiens RAB38, member RAS oncogene family, mRNA (cDNA clone MGC:9473 IMAGE:3916084), complete cds.
AF235022 - Homo sapiens Rab-related GTP-binding protein mRNA, complete cds.
JD282235 - Sequence 263259 from Patent EP1572962.
JD181471 - Sequence 162495 from Patent EP1572962.
JD403120 - Sequence 384144 from Patent EP1572962.
JD214002 - Sequence 195026 from Patent EP1572962.
JD088105 - Sequence 69129 from Patent EP1572962.
JD331531 - Sequence 312555 from Patent EP1572962.
AF136172 - Homo sapiens rab-related GTP-binding protein mRNA, complete cds.
BT009842 - Homo sapiens RAB38, member RAS oncogene family mRNA, complete cds.
DQ891126 - Synthetic construct clone IMAGE:100003756; FLH169542.01X; RZPDo839D0696D RAB38, member RAS oncogene family (RAB38) gene, encodes complete protein.
DQ894305 - Synthetic construct Homo sapiens clone IMAGE:100008765; FLH169538.01L; RZPDo839D0695D RAB38, member RAS oncogene family (RAB38) gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P57729 (Reactome details) participates in the following event(s):

R-HSA-8870466 RGGT:CHM binds RABs
R-HSA-8877760 HPS1:HPS4 exchange GTP for GDP on RAB32 and RAB38
R-HSA-8870469 RGGT geranylgeranylates RAB proteins
R-HSA-8873719 RAB geranylgeranylation
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs
R-HSA-597592 Post-translational protein modification
R-HSA-9007101 Rab regulation of trafficking
R-HSA-392499 Metabolism of proteins
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000243662.1, ENST00000243662.10, ENST00000243662.2, ENST00000243662.3, ENST00000243662.4, ENST00000243662.5, ENST00000243662.6, ENST00000243662.7, ENST00000243662.8, ENST00000243662.9, NM_022337, P57729, Q53XK7, RAB38_HUMAN, uc317emt.1, uc317emt.2
UCSC ID: ENST00000243662.11_7
RefSeq Accession: NM_022337.3
Protein: P57729 (aka RAB38_HUMAN or RB38_HUMAN)

-  Gene Model Information
  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.