Q9ULC3 (RAB23_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ras-related protein Rab-23

Gene names

Name:	RAB23
ORF Names:	HSPC137

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	237 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Cell membrane; Lipid-anchor; Cytoplasmic side Potential.
Involvement in disease	Defects in RAB23 are the cause of acrocephalopolysyndactyly type 2 (ACPS2) [MIM:201000]. A syndrome characterized by craniosynostosis, polysyndactyly, obesity, and cardiac defects. Ref.11
Sequence similarities	Belongs to the small GTPase superfamily. Rab family.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Cell membrane Membrane
Coding sequence diversity	Polymorphism
Disease	Craniosynostosis Disease mutation
Ligand	GTP-binding Nucleotide-binding
PTM	Lipoprotein Methylation Prenylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	protein transport Inferred from electronic annotation. Source: UniProtKB-KW small GTPase mediated signal transduction Inferred from electronic annotation. Source: InterPro
Cellular component	plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	GTP binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 234	234	Ras-related protein Rab-23		PRO_0000121211
	Propeptide	235 – 237	3	Removed in mature form Potential		PRO_0000370771
Regions
	Nucleotide binding	16 – 23	8	GTP By similarity
	Nucleotide binding	64 – 68	5	GTP By similarity
	Nucleotide binding	121 – 124	4	GTP By similarity
	Motif	38 – 46	9	Effector region By similarity
Amino acid modifications
	Modified residue	234	1	Cysteine methyl ester Potential
	Lipidation	234	1	S-geranylgeranyl cysteine By similarity
Natural variations
	Natural variant	12	1	M → K in CARPS. Ref.12		VAR_065294
	Natural variant	13	1	Missing.		VAR_034900
	Natural variant	40	1	K → R. Ref.11 Corresponds to variant rs45442500 [ dbSNP | Ensembl ].		VAR_034901
	Natural variant	79	1	Missing in CARPS.		VAR_065295
	Natural variant	85	1	C → R in ACPS2. Ref.11		VAR_034902
	Natural variant	101	1	S → A. Ref.11 Corresponds to variant rs45479896 [ dbSNP | Ensembl ].		VAR_034903
	Natural variant	207	1	G → S. Ref.4 Ref.5 Corresponds to variant rs1040461 [ dbSNP | Ensembl ].		VAR_017159
Experimental info
	Sequence conflict	95	1	E → G in AAF29101. Ref.3
	Sequence conflict	144	1	K → R in AAF29101. Ref.3
	Sequence conflict	225	1	K → N in AAF29101. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9ULC3 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: B9CB96E94DDF6036	FASTA	237	26,659
	10 20 30 40 50 60 MLEEDMEVAI KMVVVGNGAV GKSSMIQRYC KGIFTKDYKK TIGVDFLERQ IQVNDEDVRL 70 80 90 100 110 120 MLWDTAGQEE FDAITKAYYR GAQACVLVFS TTDRESFEAV SSWREKVVAE VGDIPTVLVQ 130 140 150 160 170 180 NKIDLLDDSC IKNEEAEALA KRLKLRFYRT SVKEDLNVNE VFKYLAEKYL QKLKQQIAED 190 200 210 220 230 PELTHSSSNK IGVFNTSGGS HSGQNSGTLN GGDVINLRPN KQRTKKNRNP FSSCSIP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Human mRNA for RAB23 protein." Seki N., Yoshikawa T., Azuma T., Saito T., Muramatsu M. Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fetal brain.
[2]	"Expression of RAB-23 in human hair follicle." Ikeda A., Yamashita M. Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Hair follicle.
[3]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed: 11042152] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Umbilical cord blood.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-207.
[5]	"cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)." Puhl H.L. III, Ikeda S.R., Aronstam R.S. Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-207. Tissue: Brain.
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon carcinoma.
[7]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Uterus.
[10]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]	"RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity." Jenkins D., Seelow D., Jehee F.S., Perlyn C.A., Alonso L.G., Bueno D.F., Donnai D., Josifiova D., Mathijssen I.M.J., Morton J.E.V., Orstavik K.H., Sweeney E., Wall S.A., Marsh J.L., Nuernberg P., Passos-Bueno M.R., Wilkie A.O.M. Am. J. Hum. Genet. 80:1162-1170(2007) [PubMed: 17503333] [Abstract] Cited for: VARIANTS VAL-13 DEL; ARG-40 AND ALA-101, VARIANT ACPS2 ARG-85.
[12]	"Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay." Jenkins D., Baynam G., De Catte L., Elcioglu N., Gabbett M.T., Hudgins L., Hurst J.A., Jehee F.S., Oley C., Wilkie A.O. Hum. Mutat. 32:E2069-E2078(2011) [PubMed: 21412941] [Abstract] Cited for: VARIANTS CARPS LYS-12 AND TYR-79 DEL.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00008034.
RefSeq	NP_057361.3. NM_016277.3. NP_899050.1. NM_183227.1.
UniGene	Hs.555016.
3D structure databases
ProteinModelPortal	Q9ULC3.
SMR	Q9ULC3. Positions 8-171.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9ULC3. 1 interaction.
STRING	Q9ULC3.
PTM databases
PhosphoSite	Q9ULC3.
Polymorphism databases
DMDM	12643897.
Proteomic databases
PRIDE	Q9ULC3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000317483; ENSP00000320413; ENSG00000112210. ENST00000468148; ENSP00000417610; ENSG00000112210.
GeneID	51715.
KEGG	hsa:51715.
UCSC	uc003pds.1. human.
Organism-specific databases
CTD	51715.
GeneCards	GC06M057100.
H-InvDB	HIX0005985.
HGNC	HGNC:14263. RAB23.
HPA	HPA029135. HPA029136.
MIM	201000. phenotype. 606144. gene.
neXtProt	NX_Q9ULC3.
Orphanet	65759. Carpenter syndrome.
PharmGKB	PA34113.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10817.
GeneTree	ENSGT00570000079121.
HOGENOM	HBG745225.
HOVERGEN	HBG100144.
InParanoid	Q9ULC3.
OMA	FKYLADK.
OrthoDB	EOG4P2Q33.
PhylomeDB	Q9ULC3.
Enzyme and pathway databases
Pathway_Interaction_DB	hedgehog_glipathway. Hedgehog signaling events mediated by Gli proteins.
Gene expression databases
ArrayExpress	Q9ULC3.
Bgee	Q9ULC3.
CleanEx	HS_RAB23.
Genevestigator	Q9ULC3.
GermOnline	ENSG00000112210. Homo sapiens.
Family and domain databases
InterPro	IPR005225. Small_GTP-bd_dom. IPR001806. Small_GTPase. IPR015593. Small_GTPase_Rab23. IPR003579. Small_GTPase_Rab_type. [Graphical view]
KO	K06234.
PANTHER	PTHR24073:SF163. PTHR24073:SF163. 1 hit.
Pfam	PF00071. Ras. 1 hit. [Graphical view]
PRINTS	PR00449. RASTRNSFRMNG.
SMART	SM00175. RAB. 1 hit. [Graphical view]
TIGRFAMs	TIGR00231. Small_GTP. 1 hit.
PROSITE	PS51419. RAB. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	55759.
SOURCE	Search...

Entry information

Entry name

RAB23_HUMAN

Accession

Primary (citable) accession number: Q9ULC3
Secondary accession number(s): B2R9I5 , Q68DJ6, Q8NI06, Q9P023

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	May 1, 2000
Last modified:	January 25, 2012
This is version 113 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.