Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Ras-related protein Rab-23

Gene

RAB23

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi16 – 23GTPBy similarity8
Nucleotide bindingi64 – 68GTPBy similarity5
Nucleotide bindingi121 – 124GTPBy similarity4

GO - Molecular functioni

  • GTPase activity Source: UniProtKB
  • GTP binding Source: UniProtKB-KW

GO - Biological processi

  • autophagosome assembly Source: UniProtKB
  • cellular defense response Source: UniProtKB
  • cilium assembly Source: UniProtKB
  • craniofacial suture morphogenesis Source: UniProtKB
  • negative regulation of transcription factor import into nucleus Source: UniProtKB
  • protein transport Source: UniProtKB-KW
  • small GTPase mediated signal transduction Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Protein transport, Transport

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112210-MONOMER.
SignaLinkiQ9ULC3.
SIGNORiQ9ULC3.

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-related protein Rab-23
Gene namesi
Name:RAB23
ORF Names:HSPC137
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:14263. RAB23.

Subcellular locationi

GO - Cellular componenti

  • autophagosome Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • endosome membrane Source: GO_Central
  • extracellular exosome Source: UniProtKB
  • phagocytic vesicle Source: UniProtKB
  • phagocytic vesicle membrane Source: UniProtKB-SubCell
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoplasmic vesicle, Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Carpenter syndrome 1 (CRPT1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:201000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06529412M → K in CRPT1. 1 Publication1
Natural variantiVAR_06529579Missing in CRPT1. 1 Publication1
Natural variantiVAR_03490285C → R in CRPT1. 1 Publication1

Keywords - Diseasei

Craniosynostosis, Disease mutation

Organism-specific databases

DisGeNETi51715.
MalaCardsiRAB23.
MIMi201000. phenotype.
OpenTargetsiENSG00000112210.
Orphaneti65759. Carpenter syndrome.
PharmGKBiPA34113.

Polymorphism and mutation databases

DMDMi12643897.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001212111 – 234Ras-related protein Rab-23Add BLAST234
PropeptideiPRO_0000370771235 – 237Removed in mature formSequence analysis3

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei186PhosphoserineCombined sources1
Modified residuei187PhosphoserineCombined sources1
Modified residuei234Cysteine methyl esterSequence analysis1
Lipidationi234S-geranylgeranyl cysteineBy similarity1

Keywords - PTMi

Lipoprotein, Methylation, Phosphoprotein, Prenylation

Proteomic databases

EPDiQ9ULC3.
MaxQBiQ9ULC3.
PaxDbiQ9ULC3.
PeptideAtlasiQ9ULC3.
PRIDEiQ9ULC3.

PTM databases

iPTMnetiQ9ULC3.
PhosphoSitePlusiQ9ULC3.

Expressioni

Gene expression databases

BgeeiENSG00000112210.
CleanExiHS_RAB23.
ExpressionAtlasiQ9ULC3. baseline and differential.
GenevisibleiQ9ULC3. HS.

Organism-specific databases

HPAiHPA029135.
HPA029136.

Interactioni

Subunit structurei

Interacts with SUFU.1 Publication

Protein-protein interaction databases

BioGridi119694. 7 interactors.
IntActiQ9ULC3. 4 interactors.
MINTiMINT-6783510.
STRINGi9606.ENSP00000320413.

Structurei

3D structure databases

ProteinModelPortaliQ9ULC3.
SMRiQ9ULC3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi38 – 46Effector regionBy similarity9

Sequence similaritiesi

Belongs to the small GTPase superfamily. Rab family.Curated

Phylogenomic databases

eggNOGiKOG4252. Eukaryota.
ENOG4110BDM. LUCA.
GeneTreeiENSGT00760000119125.
HOGENOMiHOG000233968.
HOVERGENiHBG100144.
InParanoidiQ9ULC3.
KOiK06234.
OMAiIPTWKEK.
OrthoDBiEOG091G0LSB.
PhylomeDBiQ9ULC3.
TreeFamiTF317494.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9ULC3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLEEDMEVAI KMVVVGNGAV GKSSMIQRYC KGIFTKDYKK TIGVDFLERQ
60 70 80 90 100
IQVNDEDVRL MLWDTAGQEE FDAITKAYYR GAQACVLVFS TTDRESFEAV
110 120 130 140 150
SSWREKVVAE VGDIPTVLVQ NKIDLLDDSC IKNEEAEALA KRLKLRFYRT
160 170 180 190 200
SVKEDLNVNE VFKYLAEKYL QKLKQQIAED PELTHSSSNK IGVFNTSGGS
210 220 230
HSGQNSGTLN GGDVINLRPN KQRTKKNRNP FSSCSIP
Length:237
Mass (Da):26,659
Last modified:May 1, 2000 - v1
Checksum:iB9CB96E94DDF6036
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti95E → G in AAF29101 (PubMed:11042152).Curated1
Sequence conflicti144K → R in AAF29101 (PubMed:11042152).Curated1
Sequence conflicti225K → N in AAF29101 (PubMed:11042152).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06529412M → K in CRPT1. 1 Publication1
Natural variantiVAR_03490013Missing .1 Publication1
Natural variantiVAR_03490140K → R.1 PublicationCorresponds to variant rs45442500dbSNPEnsembl.1
Natural variantiVAR_06529579Missing in CRPT1. 1 Publication1
Natural variantiVAR_03490285C → R in CRPT1. 1 Publication1
Natural variantiVAR_034903101S → A.1 PublicationCorresponds to variant rs45479896dbSNPEnsembl.1
Natural variantiVAR_017159207G → S.2 PublicationsCorresponds to variant rs1040461dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB034244 mRNA. Translation: BAA87324.1.
AB025427 mRNA. Translation: BAB40309.1.
AF161486 mRNA. Translation: AAF29101.1.
AF498951 mRNA. Translation: AAM21099.1.
AK313796 mRNA. Translation: BAG36532.1.
AY585189 mRNA. Translation: AAT79492.1.
CR749371 mRNA. Translation: CAH18224.1.
AL031321 Genomic DNA. Translation: CAI21564.1.
CH471081 Genomic DNA. Translation: EAX04476.1.
BC015021 mRNA. Translation: AAH15021.1.
CCDSiCCDS4962.1.
RefSeqiNP_001265595.1. NM_001278666.1.
NP_001265596.1. NM_001278667.1.
NP_001265597.1. NM_001278668.1.
NP_057361.3. NM_016277.4.
NP_899050.1. NM_183227.2.
UniGeneiHs.555016.

Genome annotation databases

EnsembliENST00000317483; ENSP00000320413; ENSG00000112210.
ENST00000468148; ENSP00000417610; ENSG00000112210.
GeneIDi51715.
KEGGihsa:51715.
UCSCiuc003pds.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB034244 mRNA. Translation: BAA87324.1.
AB025427 mRNA. Translation: BAB40309.1.
AF161486 mRNA. Translation: AAF29101.1.
AF498951 mRNA. Translation: AAM21099.1.
AK313796 mRNA. Translation: BAG36532.1.
AY585189 mRNA. Translation: AAT79492.1.
CR749371 mRNA. Translation: CAH18224.1.
AL031321 Genomic DNA. Translation: CAI21564.1.
CH471081 Genomic DNA. Translation: EAX04476.1.
BC015021 mRNA. Translation: AAH15021.1.
CCDSiCCDS4962.1.
RefSeqiNP_001265595.1. NM_001278666.1.
NP_001265596.1. NM_001278667.1.
NP_001265597.1. NM_001278668.1.
NP_057361.3. NM_016277.4.
NP_899050.1. NM_183227.2.
UniGeneiHs.555016.

3D structure databases

ProteinModelPortaliQ9ULC3.
SMRiQ9ULC3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119694. 7 interactors.
IntActiQ9ULC3. 4 interactors.
MINTiMINT-6783510.
STRINGi9606.ENSP00000320413.

PTM databases

iPTMnetiQ9ULC3.
PhosphoSitePlusiQ9ULC3.

Polymorphism and mutation databases

DMDMi12643897.

Proteomic databases

EPDiQ9ULC3.
MaxQBiQ9ULC3.
PaxDbiQ9ULC3.
PeptideAtlasiQ9ULC3.
PRIDEiQ9ULC3.

Protocols and materials databases

DNASUi51715.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317483; ENSP00000320413; ENSG00000112210.
ENST00000468148; ENSP00000417610; ENSG00000112210.
GeneIDi51715.
KEGGihsa:51715.
UCSCiuc003pds.5. human.

Organism-specific databases

CTDi51715.
DisGeNETi51715.
GeneCardsiRAB23.
HGNCiHGNC:14263. RAB23.
HPAiHPA029135.
HPA029136.
MalaCardsiRAB23.
MIMi201000. phenotype.
606144. gene.
neXtProtiNX_Q9ULC3.
OpenTargetsiENSG00000112210.
Orphaneti65759. Carpenter syndrome.
PharmGKBiPA34113.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4252. Eukaryota.
ENOG4110BDM. LUCA.
GeneTreeiENSGT00760000119125.
HOGENOMiHOG000233968.
HOVERGENiHBG100144.
InParanoidiQ9ULC3.
KOiK06234.
OMAiIPTWKEK.
OrthoDBiEOG091G0LSB.
PhylomeDBiQ9ULC3.
TreeFamiTF317494.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112210-MONOMER.
SignaLinkiQ9ULC3.
SIGNORiQ9ULC3.

Miscellaneous databases

ChiTaRSiRAB23. human.
GeneWikiiRAB23.
GenomeRNAii51715.
PROiQ9ULC3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112210.
CleanExiHS_RAB23.
ExpressionAtlasiQ9ULC3. baseline and differential.
GenevisibleiQ9ULC3. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRAB23_HUMAN
AccessioniPrimary (citable) accession number: Q9ULC3
Secondary accession number(s): B2R9I5
, Q68DJ6, Q8NI06, Q9P023
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 1, 2000
Last modified: November 2, 2016
This is version 162 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.