Aliases for RAB23 Gene
Aliases for RAB23 Gene
External Ids for RAB23 Gene
- HGNC: 14263
- Entrez Gene: 51715
- Ensembl: ENSG00000112210
- OMIM: 606144
- UniProtKB: Q9ULC3
Previous GeneCards Identifiers for RAB23 Gene
- GC06M057055
- GC06M057100
- GC06M056887
Summaries for RAB23 Gene
-
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]
GeneCards Summary for RAB23 Gene
RAB23 (RAB23, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB23 include Carpenter Syndrome 1 and Beare-Stevenson Cutis Gyrata Syndrome. Among its related pathways are Metabolism of proteins and RAB geranylgeranylation. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB29.
UniProtKB/Swiss-Prot for RAB23 Gene
-
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes.
Additional gene information for RAB23 Gene
- Monarch Initiative
- Search for RAB23 at DataMed
- Search for RAB23 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB23 Gene
Genomics for RAB23 Gene
GeneHancer (GH) Regulatory Elements for RAB23 Gene
Promoters and enhancers for RAB23 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH06I057220 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 550.8 | +0.5 | 493 | 3 | SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 POLR2B ZNF213 ZNF207 | RAB23 PRIM2 BEND6 GC06M057222 LOC101927211 | |
| GH06I057213 | Promoter | 0.5 | EPDnew | 550.4 | +8.3 | 8299 | 0.1 | RAB23 LOC101927211 | ||
| GH06I056765 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 10.7 | +455.2 | 455151 | 2.8 | PKNOX1 ZFP64 BATF RAD21 ZNF213 ZNF354C ATF7 ETV6 FOS BCLAF1 | ZNF451 KIAA1586 PRIM2 LOC101927211 BEND6 LOC101930010 RAB23 DST GC06M056744 GC06P056805 | |
| GH06I056523 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 9.8 | +695.3 | 695340 | 6.4 | PKNOX1 FEZF1 ZNF2 ZNF121 ZNF213 KLF7 FOS ATF7 SP3 REST | KIAA1586 ZNF451 BEND6 PRIM2 RAB23 GC06P056536 RCC2P7 DST | |
| GH06I057257 | Enhancer | 1 | FANTOM5 Ensembl ENCODE dbSUPER | 6.1 | -36.2 | -36218 | 2.4 | RNF2 CEBPB | BAG2 LOC101927211 RAB23 KIAA1586 LOC100506188 GC06M057222 GC06P057245 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around RAB23 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the RAB23 gene promoter:
Regulatory Element Products
Genomic Locations for RAB23 Gene
Genomic Locations for RAB23 Gene
- chr6:57,186,992-57,222,314
- (GRCh38/hg38)
- Size:
- 35,323 bases
- Orientation:
- Minus strand
- chr6:57,053,581-57,087,078
- (GRCh37/hg19)
Genomic View for RAB23 Gene
Genes around RAB23 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p11.2 by Ensembl
- 6p12.1-p11.2 by Entrez Gene
- 6p12.1-p11.2 by HGNC
RAB23 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RAB23 Gene
Proteins for RAB23 Gene
-
Protein details for RAB23 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9ULC3-RAB23_HUMAN
- Recommended name:
- Ras-related protein Rab-23
- Protein Accession:
- Q9ULC3
- B2R9I5
- Q68DJ6
- Q8NI06
- Q9P023
Protein attributes for RAB23 Gene
- Size:
- 237 amino acids
- Molecular mass:
- 26659 Da
- Quaternary structure:
-
- Interacts with SUFU.
Protein Expression for RAB23 Gene
Post-translational modifications for RAB23 Gene
- Ubiquitination at Lys163
Other Protein References for RAB23 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for RAB23
-
Abcam antibodies for RAB23
- Invitrogen Antibodies for RAB23
- Search GeneTex for Antibodies for RAB23
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for RAB23
- Origene Custom Protein Services for RAB23
- ProSpec Recombinant Proteins for RAB23
- Search GeneTex for Proteins for RAB23
-
Abcam proteins for RAB23
Assay Products
No data available for DME Specific Peptides for RAB23 Gene
Domains & Families for RAB23 Gene
Gene Families for RAB23 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for RAB23 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for RAB23 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9ULC3- Family:
-
- Belongs to the small GTPase superfamily. Rab family.
Function for RAB23 Gene
Molecular function for RAB23 Gene
- UniProtKB/Swiss-Prot Function:
- The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Together with SUFU, prevents nuclear import of GLI1, and thereby inhibits GLI1 transcription factor activity. Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0003924 | GTPase activity | IDA | 17646400 |
| GO:0005515 | protein binding | IPI | 17646400 |
| GO:0005525 | GTP binding | IEA | -- |
Phenotypes for RAB23 Gene
- MGI mutant phenotypes for RAB23:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for RAB23:
-
- Increased vaccinia virus (VACV) infection
- Increased shRNA abundance (Z-score > 2)
- Dynamic nuclei (hole, folded or small irregular)
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased shRNA abundance (Z-score < -2)
- Decreased shRNA abundance
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Models for RAB23 Gene
- MGI Knock Outs for RAB23:
-
- Rab23 tm1b(EUCOMM)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for RAB23
-
-
ViGene Biosciences lentiviral particle packaged cDNA for RAB23 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RAB23 gene
- Search ViGene Biosciences for RAB23
CRISPR Products
-
OriGene CRISPR knockouts for RAB23
- genomics-online: gRNA clones - Search results for 117 available RAB23 gene related products
- Overview of 117 available RAB23 gene related products
- Applied Biological Materials CRISPR for RAB23
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RAB23
- GenScript: Design CRISPR guide RNA sequences for RAB23
miRNA for RAB23 Gene
- miRTarBase miRNAs that target RAB23
-
- hsa-mir-155-5p (MIRT001513)
- hsa-mir-215-5p (MIRT024924)
- hsa-mir-192-5p (MIRT026693)
- hsa-mir-103a-3p (MIRT027149)
- hsa-mir-26b-5p (MIRT029882)
- hsa-mir-18a-5p (MIRT031315)
- hsa-mir-16-5p (MIRT031846)
- hsa-mir-615-3p (MIRT040385)
- hsa-mir-17-5p (MIRT050809)
- hsa-mir-200b-3p (MIRT054886)
- hsa-mir-4276 (MIRT555019)
- hsa-mir-3152-3p (MIRT555020)
- hsa-mir-597-3p (MIRT555021)
- hsa-mir-4694-5p (MIRT555022)
- hsa-mir-4711-5p (MIRT555023)
- hsa-mir-7112-3p (MIRT555024)
- hsa-mir-4468 (MIRT555025)
- hsa-mir-4264 (MIRT555026)
- hsa-mir-4797-3p (MIRT555027)
- hsa-mir-5190 (MIRT555028)
- hsa-mir-545-3p (MIRT555029)
- hsa-mir-6838-5p (MIRT555030)
- hsa-mir-497-5p (MIRT555031)
- hsa-mir-424-5p (MIRT555032)
- hsa-mir-195-5p (MIRT555033)
- hsa-mir-15b-5p (MIRT555034)
- hsa-mir-15a-5p (MIRT555035)
- hsa-mir-548p (MIRT555036)
- hsa-mir-527 (MIRT647829)
- hsa-mir-518a-5p (MIRT647830)
- hsa-mir-548aw (MIRT647831)
- hsa-mir-1468-3p (MIRT647832)
- hsa-mir-548x-5p (MIRT647833)
- hsa-mir-548g-5p (MIRT647834)
- hsa-mir-548f-5p (MIRT647835)
- hsa-mir-548aj-5p (MIRT647836)
- hsa-mir-153-5p (MIRT647837)
- hsa-mir-1250-3p (MIRT647838)
- hsa-mir-6771-3p (MIRT647839)
- hsa-mir-367-3p (MIRT733123)
- hsa-mir-92b-3p (MIRT734674)
miRNA Products
- Search ViGene Biosciences for RAB23
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for RAB23
- Browse OriGene Inhibitory RNA Products For RAB23
- genomics-online: shRNA clones - Search results for 117 available RAB23 gene related products
- Overview of 117 available RAB23 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for RAB23 gene
Clone Products
- Sino Biological Human cDNA Clone for RAB23
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for RAB23
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RAB23
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for RAB23
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for RAB23
-
ViGene Biosciences adenoviral particle packaged cDNA for RAB23 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for RAB23 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RAB23 gene
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for RAB23 Gene
Localization for RAB23 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RAB23 Gene
- Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm. Cytoplasmic vesicle, autophagosome. Endosome membrane. Cytoplasmic vesicle, phagosome. Cytoplasmic vesicle, phagosome membrane; Lipid-anchor; Cytoplasmic side. Note=Recruited to phagosomes containing S.aureus or M.tuberculosis. {ECO:0000269 PubMed:21255211}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| endosome | 3 |
| nucleus | 2 |
| mitochondrion | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (4)
- Plasma membrane (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 22365972 |
| GO:0005768 | endosome | IEA | -- |
| GO:0005776 | autophagosome | IEA,IDA | 22452336 |
| GO:0005813 | centrosome | IDA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for RAB23 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | Sertoli-Sertoli Cell Junction Dynamics | ||
| 3 | RAB geranylgeranylation | ||
| 4 | Hedgehog Pathway | ||
Pathways by source for RAB23 Gene
1 BioSystems pathway for RAB23 Gene
3 Reactome pathways for RAB23 Gene
1 Qiagen pathway for RAB23 Gene
Interacting Proteins for RAB23 Gene
Selected Interacting proteins:
Q9ULC3-RAB23_HUMAN
ENSP00000320413
for RAB23 Gene via
IID
STRING
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000045 | autophagosome assembly | IMP | 22452336 |
| GO:0006810 | transport | IEA | -- |
| GO:0006968 | cellular defense response | IMP | 22452336 |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0015031 | protein transport | IEA | -- |
Transcripts for RAB23 Gene
mRNA/cDNA for RAB23 Gene
- (5) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (156) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for RAB23 Gene
CRISPR Products
-
OriGene CRISPR knockouts for RAB23
- genomics-online: gRNA clones - Search results for 117 available RAB23 gene related products
- Overview of 117 available RAB23 gene related products
- Applied Biological Materials CRISPR for RAB23
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RAB23
- GenScript: Design CRISPR guide RNA sequences for RAB23
miRNA Products
- Search ViGene Biosciences for RAB23
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for RAB23
- Browse OriGene Inhibitory RNA Products For RAB23
- genomics-online: shRNA clones - Search results for 117 available RAB23 gene related products
- Overview of 117 available RAB23 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for RAB23 gene
Clone Products
- Sino Biological Human cDNA Clone for RAB23
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for RAB23
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RAB23
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for RAB23
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - |
Expression for RAB23 Gene
mRNA differential expression in normal tissues according to GTEx for RAB23 Gene
This gene is overexpressed in Colon - Sigmoid (x4.6) and Bladder (x4.1).
This gene is overexpressed in Colon muscle (8.6), Uterus (8.6), Prostate (7.4), and Seminal vesicle (6.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RAB23 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of RAB23 Gene:
RAB23SOURCE GeneReport for Unigene cluster for RAB23 Gene:
Hs.555016Evidence on tissue expression from TISSUES for RAB23 Gene
- Nervous system(4.5)
- Skin(4.3)
- Blood(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB23 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- outer ear
- skull
- tooth
Thorax:
- breast
- chest wall
- heart
- heart valve
- lung
- rib
- rib cage
- sternum
Abdomen:
- abdominal wall
- intestine
- kidney
- large intestine
- liver
- small intestine
- spleen
Pelvis:
- fallopian tube
- ovary
- pelvis
- penis
- prostate
- testicle
- ureter
- urinary bladder
- uterus
- vagina
- vas deferens
- vulva
Limb:
- digit
- femur
- finger
- foot
- hand
- hip
- knee
- lower limb
- nail
- shin
- thigh
- tibia
- toe
- upper limb
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for RAB23
-
OriGene qPCR primer pairs and template standards for RAB23
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for RAB23 Gene
Orthologs for RAB23 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RAB23 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | RAB23 34 |
|
OneToOne | |
| LOC481854 33 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | RAB23 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RAB23 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | RAB23 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rab23 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Rab23 33 16 34 |
|
||
| chicken (Gallus gallus) |
Aves | RAB23 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | RAB23 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | rab23 33 |
|
||
| Str.15295 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | rab23 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Rab23 33 34 |
|
||
| CG2108 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011565 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TEM1 34 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for RAB23 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for RAB23 Gene
(82) SIMAP similar genes for RAB23 Gene using alignment to 1 proteins:
- RAB7A
- DKFZp686J07132
- RAB7B
- RAB3C
- RAB13
- RAB3B
- RAB3A
- RAB30
- RAB11A
- RAB19
- RAB11B
- RANP1
- RAB3D
- RAB9A
- RAB5B
- RAB12
- RAB8B
- RAB7L1
- RAB8A
- RAB1A
- RAB17
- RIT2
- RAB9B
- RAB5C
- RAB39B
- RAB35
- RAB21
- RAB10
- RALA
- RAB6A
- RAB26
- RRAS2
- RAP1B
- RAP1A
- RAB6B
- RAB43
- RAB37
- RAB2A
- RAB22A
- RALB
- RAB5A
- RAP2B
- RAB32
- RAB25
- RAB4B
- RAB4A
- RAB41
- RAB39A
- RAB33B
- RAB31
- RAB1C
- RAB15
- RAB14
- DKFZp547A0616
- DKFZp313C1541
- MRAS
- RIT1
- RRAS
- RAB38
- RAB2B
- RAB1B
- RAB18
- RASEF
- RAP2C
- RAP2A
- RAB33A
- RAB24
- LOC51277
- RAN
- RAB6C
- RAB40C
- RAB40B
- RAB27A
- RAB34
- RAB40AL
- RAB40A
- RAB36
- NRAS
- RAB27B
- RHOC
- RAB28
- RHOA
Variants for RAB23 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1040461 | likely-benign, Carpenter syndrome | 57,190,556(-) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs1060505026 | pathogenic, Carpenter syndrome | 57,194,770(-) | C/G | coding_sequence_variant, intron_variant, missense_variant | |
| rs11398 | likely-benign, Carpenter syndrome | 57,189,149(-) | T/C | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs121908171 | pathogenic, Carpenter syndrome 1, not provided | 57,194,817(-) | A/T | coding_sequence_variant, intron_variant, stop_gained | |
| rs138311113 | uncertain-significance, Carpenter syndrome | 57,189,917(-) | C/T | 3_prime_UTR_variant, non_coding_transcript_variant |
Residual Variation Intolerance Score:
57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.44;
77.28% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RAB23 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB23 Gene
Disorders for RAB23 Gene
(6) MalaCards diseases for RAB23 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| carpenter syndrome 1 |
|
|
| beare-stevenson cutis gyrata syndrome |
|
|
| synostosis |
|
|
| muenke syndrome |
|
|
| apert syndrome |
|
|
Search RAB23 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
RAB23_HUMAN- Carpenter syndrome 1 (CRPT1) [MIM:201000]: A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed. {ECO:0000269 PubMed:17503333, ECO:0000269 PubMed:21412941}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for RAB23
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for RAB23 Gene
Publications for RAB23 Gene
- Rab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)-dependent manner. (PMID: 22365972) Chi S … Xie J (Cellular signalling 2012) 3 4 58
- The small GTPases Rab9A and Rab23 function at distinct steps in autophagy during Group A Streptococcus infection. (PMID: 22452336) Nozawa T … Nakagawa I (Cellular microbiology 2012) 3 4 58
- Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes. (PMID: 21255211) Seto S … Koide Y (Traffic (Copenhagen, Denmark) 2011) 3 4 58
- Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay. (PMID: 21412941) Jenkins D … Wilkie AO (Human mutation 2011) 3 4 58
- RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. (PMID: 17503333) Jenkins D … Wilkie AO (American journal of human genetics 2007) 3 4 58
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Sources for RAB23 Gene
- (1) GeneCards
- (2) HGNC
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