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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]
RAB23 (RAB23, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB23 include Carpenter Syndrome 1 and Synostosis. Among its related pathways are Metabolism of proteins and Autophagy Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is RAB29.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003924 | GTPase activity | IBA,IDA | 17646400 |
GO:0005515 | protein binding | IPI | 17646400 |
GO:0005525 | GTP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 22365972 |
GO:0005768 | endosome | IEA | -- |
GO:0005776 | autophagosome | IBA,IDA | 22452336 |
GO:0005813 | centrosome | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of proteins | ||
2 | Autophagy Pathway | ||
3 | Sertoli-Sertoli Cell Junction Dynamics |
Epithelial Tight Junctions
.36
|
|
4 | RAB geranylgeranylation | ||
5 | Hedgehog signaling events mediated by Gli proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000045 | autophagosome assembly | IBA,IMP | 22452336 |
GO:0006886 | intracellular protein transport | IBA | 21873635 |
GO:0006968 | cellular defense response | IMP | 22452336 |
GO:0007165 | signal transduction | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||
SP6: | - | - | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAB23 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAB23 31 |
|
OneToOne | |
LOC481854 30 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | RAB23 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RAB23 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAB23 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rab23 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rab23 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RAB23 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RAB23 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rab23 30 |
|
||
Str.15295 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | rab23 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Rab23 30 31 |
|
OneToOne | |
CG2108 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011565 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TEM1 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
18426 | Pathogenic: Carpenter syndrome 1 | 57,210,294(-) | A/AT | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
4592 | Pathogenic: Carpenter syndrome 1 | 57,194,842(-) | C/CA | NONSENSE | |
638057 | Uncertain Significance: Carpenter syndrome 1 | 57,194,835(-) | A/G | MISSENSE_VARIANT | |
664887 | Pathogenic: Carpenter syndrome | 57,210,375(-) | CA/C | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
701813 | Likely Benign: Carpenter syndrome | 57,193,864(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
carpenter syndrome 1 |
|
|
synostosis |
|
|
apert syndrome |
|
|
brachydactyly |
|
|
holoprosencephaly 5 |
|
|