Human Gene RAB23 (ENST00000468148.6) Description and Page Index
  Description: Homo sapiens RAB23, member RAS oncogene family (RAB23), transcript variant 1, mRNA. (from RefSeq NM_016277)
RefSeq Summary (NM_016277): This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].
Gencode Transcript: ENST00000468148.6
Gencode Gene: ENSG00000112210.12
Transcript (Including UTRs)
   Position: hg38 chr6:57,186,992-57,222,307 Size: 35,316 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr6:57,190,461-57,210,380 Size: 19,920 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:57,186,992-57,222,307)mRNA (may differ from genome)Protein (237 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: RAB23_HUMAN
DESCRIPTION: RecName: Full=Ras-related protein Rab-23; Flags: Precursor;
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side (Potential).
DISEASE: Defects in RAB23 are the cause of acrocephalopolysyndactyly type 2 (ACPS2) [MIM:201000]. A syndrome characterized by craniosynostosis, polysyndactyly, obesity, and cardiac defects.
SIMILARITY: Belongs to the small GTPase superfamily. Rab family.

-  MalaCards Disease Associations
  MalaCards Gene Search: RAB23
Diseases sorted by gene-association score: carpenter syndrome* (1708), beare-stevenson cutis gyrata syndrome (12), synostosis (7), muenke syndrome (5), apert syndrome (5), hydronephrosis (5)
* = Manually curated disease association

-  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: 26.29 RPKM in Colon - Sigmoid
Total median expression: 288.92 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 -308.60647-0.477 Picture PostScript Text
3' UTR -740.303469-0.213 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:
PF00071 - Ras family

ModBase Predicted Comparative 3D Structure on Q9ULC3
FrontTopSide
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-  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 BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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

Biological Process:
GO:0000045 autophagosome assembly
GO:0006968 cellular defense response
GO:0007275 multicellular organism development
GO:0015031 protein transport
GO:0042308 negative regulation of protein import into nucleus
GO:0046039 GTP metabolic process
GO:0060271 cilium assembly
GO:0097094 craniofacial suture morphogenesis

Cellular Component:
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005776 autophagosome
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0030054 cell junction
GO:0030670 phagocytic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0045335 phagocytic vesicle


-  Descriptions from all associated GenBank mRNAs
  AJ420545 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1533714.
AF161486 - Homo sapiens HSPC137 mRNA, complete cds.
CR749371 - Homo sapiens mRNA; cDNA DKFZp781H0695 (from clone DKFZp781H0695).
JD284825 - Sequence 265849 from Patent EP1572962.
JD527439 - Sequence 508463 from Patent EP1572962.
JD565262 - Sequence 546286 from Patent EP1572962.
JD233277 - Sequence 214301 from Patent EP1572962.
BC015021 - Homo sapiens RAB23, member RAS oncogene family, mRNA (cDNA clone MGC:8900 IMAGE:3910708), complete cds.
JD504609 - Sequence 485633 from Patent EP1572962.
AK311123 - Homo sapiens cDNA, FLJ18165.
AB034244 - Homo sapiens mRNA for RAB23 protein, complete cds.
JD491264 - Sequence 472288 from Patent EP1572962.
JD172102 - Sequence 153126 from Patent EP1572962.
JD296815 - Sequence 277839 from Patent EP1572962.
JD046985 - Sequence 28009 from Patent EP1572962.
JD565212 - Sequence 546236 from Patent EP1572962.
JD236675 - Sequence 217699 from Patent EP1572962.
JD093015 - Sequence 74039 from Patent EP1572962.
AB025427 - Homo sapiens mRNA for hRAB-23 protein, complete cds.
AF498951 - Homo sapiens small GTP binding protein RAB23 (RAB23) mRNA, complete cds.
AY585189 - Homo sapiens RAB family small GTP binding protein RAB 23 mRNA, complete cds.
AK313796 - Homo sapiens cDNA, FLJ94410, highly similar to Homo sapiens RAB23, member RAS oncogene family (RAB23), mRNA.
KJ893977 - Synthetic construct Homo sapiens clone ccsbBroadEn_03371 RAB23 gene, encodes complete protein.
KR709589 - Synthetic construct Homo sapiens clone CCSBHm_00003779 RAB23 (RAB23) mRNA, encodes complete protein.
EU832304 - Synthetic construct Homo sapiens clone HAIB:100067333; DKFZo008C0727 RAB23, member RAS oncogene family protein (RAB23) gene, encodes complete protein.
EU832388 - Synthetic construct Homo sapiens clone HAIB:100067417; DKFZo004C0728 RAB23, member RAS oncogene family protein (RAB23) gene, encodes complete protein.
AB529095 - Synthetic construct DNA, clone: pF1KB4295, Homo sapiens RAB23 gene for RAB23, member RAS oncogene family, without stop codon, in Flexi system.
JD416382 - Sequence 397406 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04340 - Hedgehog signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9ULC3 (Reactome details) participates in the following event(s):

R-HSA-8870466 RGGT:CHM binds RABs
R-HSA-8870469 RGGT geranylgeranylates RAB proteins
R-HSA-8873719 RAB geranylgeranylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2R9I5, ENST00000468148.1, ENST00000468148.2, ENST00000468148.3, ENST00000468148.4, ENST00000468148.5, HSPC137, NM_016277, Q68DJ6, Q8NI06, Q9P023, Q9ULC3, RAB23_HUMAN, uc003pdt.1, uc003pdt.2, uc003pdt.3, uc003pdt.4, uc003pdt.5, uc003pdt.6
UCSC ID: ENST00000468148.6
RefSeq Accession: NM_016277
Protein: Q9ULC3 (aka RAB23_HUMAN or RB23_HUMAN)
CCDS: CCDS4962.1

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