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Protein

Ras-related protein Rab-23

Gene

RAB23

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • GTP metabolic process Source: UniProtKB
  • intracellular protein transport Source: GO_Central
  • negative regulation of protein import into nucleus Source: UniProtKB
  • Rab protein signal transduction Source: GO_Central

Keywordsi

Molecular functionDevelopmental protein
Biological processProtein transport, Transport
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-8873719 RAB geranylgeranylation
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

EuPathDBiHostDB:ENSG00000112210.11
HGNCiHGNC:14263 RAB23
MIMi606144 gene
neXtProtiNX_Q9ULC3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi84975

PTM databases

iPTMnetiQ9ULC3
PhosphoSitePlusiQ9ULC3

Expressioni

Gene expression databases

BgeeiENSG00000112210 Expressed in 202 organ(s), highest expression level in cauda epididymis
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
MINTiQ9ULC3
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
OMAiQRYCKGV
OrthoDBiEOG091G0LSB
PhylomeDBiQ9ULC3
TreeFamiTF317494

Family and domain databases

CDDicd04106 Rab23_like, 1 hit
InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR034114 Rab23
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF00071 Ras, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51419 RAB, 1 hit

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 → R1 PublicationCorresponds to variant dbSNP:rs45442500Ensembl.1
Natural variantiVAR_06529579Missing in CRPT1. 1 Publication1
Natural variantiVAR_03490285C → R in CRPT1. 1 Publication1
Natural variantiVAR_034903101S → A1 PublicationCorresponds to variant dbSNP:rs45479896EnsemblClinVar.1
Natural variantiVAR_017159207G → S2 PublicationsCorresponds to variant dbSNP:rs1040461EnsemblClinVar.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 No translation available.
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

Similar proteinsi

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 No translation available.
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
MINTiQ9ULC3
STRINGi9606.ENSP00000320413

PTM databases

iPTMnetiQ9ULC3
PhosphoSitePlusiQ9ULC3

Polymorphism and mutation databases

DMDMi12643897

Proteomic databases

EPDiQ9ULC3
MaxQBiQ9ULC3
PaxDbiQ9ULC3
PeptideAtlasiQ9ULC3
PRIDEiQ9ULC3
ProteomicsDBi84975

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
EuPathDBiHostDB:ENSG00000112210.11
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
OMAiQRYCKGV
OrthoDBiEOG091G0LSB
PhylomeDBiQ9ULC3
TreeFamiTF317494

Enzyme and pathway databases

ReactomeiR-HSA-8873719 RAB geranylgeranylation
SignaLinkiQ9ULC3
SIGNORiQ9ULC3

Miscellaneous databases

ChiTaRSiRAB23 human
GeneWikiiRAB23
GenomeRNAii51715
PROiPR:Q9ULC3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112210 Expressed in 202 organ(s), highest expression level in cauda epididymis
CleanExiHS_RAB23
ExpressionAtlasiQ9ULC3 baseline and differential
GenevisibleiQ9ULC3 HS

Family and domain databases

CDDicd04106 Rab23_like, 1 hit
InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR034114 Rab23
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
PfamiView protein in Pfam
PF00071 Ras, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51419 RAB, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRAB23_HUMAN
AccessioniPrimary (citable) accession number: Q9ULC3
Secondary accession number(s): B2R9I5
, Q68DJ6, Q8NI06, Q9P023
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 176 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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