Q96DA2 (RB39B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ras-related protein Rab-39B

Gene names

Name:

RAB39B

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	213 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in vesicular trafficking. Play a role in synapse formation By similarity.
Subcellular location	Cell membrane; Lipid-anchor; Cytoplasmic side Potential. Golgi apparatus. Note: Partial colocalization with markers that cycle from the cell surface to the trans-Golgi network By similarity. Ref.5
Tissue specificity	Highly expressed in the brain. Ref.5
Involvement in disease	Defects in RAB39B are the cause of mental retardation X-linked type 72 (MRX72) [MIM:300271]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRX72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features. Ref.5
Sequence similarities	Belongs to the small GTPase superfamily. Rab family.

Ontologies

Keywords
Biological process	Protein transport Transport
Cellular component	Cell membrane Golgi apparatus Membrane
Disease	Mental retardation
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 synapse organization Inferred from sequence or structural similarity. Source: UniProtKB vesicle-mediated transport Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	Golgi apparatus Inferred from direct assay Ref.5. Source: UniProtKB 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 – 213	213	Ras-related protein Rab-39B		PRO_0000121255
Regions
	Nucleotide binding	15 – 22	8	GTP By similarity
	Nucleotide binding	64 – 68	5	GTP By similarity
	Nucleotide binding	123 – 126	4	GTP By similarity
	Motif	37 – 45	9	Effector region By similarity
Amino acid modifications
	Modified residue	213	1	Cysteine methyl ester By similarity
	Lipidation	211	1	S-geranylgeranyl cysteine By similarity
	Lipidation	213	1	S-geranylgeranyl cysteine By similarity
Experimental info
	Sequence conflict	57	1	R → T in AAL12244. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q96DA2 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 2B2C5B35C61FA88E	FASTA	213	24,622
	10 20 30 40 50 60 MEAIWLYQFR LIVIGDSTVG KSCLIRRFTE GRFAQVSDPT VGVDFFSRLV EIEPGKRIKL 70 80 90 100 110 120 QIWDTAGQER FRSITRAYYR NSVGGLLLFD ITNRRSFQNV HEWLEETKVH VQPYQIVFVL 130 140 150 160 170 180 VGHKCDLDTQ RQVTRHEAEK LAAAYGMKYI ETSARDAINV EKAFTDLTRD IYELVKRGEI 190 200 210 TIQEGWEGVK SGFVPNVVHS SEEVVKSERR CLC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and characterization of a human novel RAB (RAB39B) gene." Cheng H., Ma Y., Ni X., Jiang M., Guo L., Ying K., Xie Y., Mao Y. Cytogenet. Genome Res. 97:72-75(2002) [PubMed: 12438742] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fetal brain.
[2]	"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: Brain.
[3]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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: Pancreas.
[5]	"Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly." Giannandrea M., Bianchi V., Mignogna M.L., Sirri A., Carrabino S., D'Elia E., Vecellio M., Russo S., Cogliati F., Larizza L., Ropers H.H., Tzschach A., Kalscheuer V., Oehl-Jaschkowitz B., Skinner C., Schwartz C.E., Gecz J., Van Esch H. , Raynaud M., Chelly J., de Brouwer A.P., Toniolo D., D'Adamo P. Am. J. Hum. Genet. 86:185-195(2010) [PubMed: 20159109] [Abstract] Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN MRX72.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY052478 mRNA. Translation: AAL12244.1. AL834460 mRNA. Translation: CAD39120.1. AL356738 Genomic DNA. Translation: CAI41468.1. BC009714 mRNA. Translation: AAH09714.1.
IPI	IPI00060801.
RefSeq	NP_741995.1. NM_171998.2.
UniGene	Hs.632832.
3D structure databases
ProteinModelPortal	Q96DA2.
SMR	Q96DA2. Positions 6-177.
ModBase	Search...
Protein-protein interaction databases
STRING	Q96DA2.
PTM databases
PhosphoSite	Q96DA2.
Polymorphism databases
DMDM	27734447.
Proteomic databases
PeptideAtlas	Q96DA2.
PRIDE	Q96DA2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000369454; ENSP00000358466; ENSG00000155961.
GeneID	116442.
KEGG	hsa:116442.
UCSC	uc004fne.1. human.
Organism-specific databases
CTD	116442.
GeneCards	GC0XM154487.
H-InvDB	HIX0017172.
HGNC	HGNC:16499. RAB39B.
HPA	HPA001114.
MIM	300271. phenotype. 300774. gene.
neXtProt	NX_Q96DA2.
Orphanet	777. X-linked nonsyndromic intellectual deficit.
PharmGKB	PA34131.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18279.
GeneTree	ENSGT00600000084094.
HOGENOM	HBG745225.
HOVERGEN	HBG009351.
InParanoid	Q96DA2.
OMA	TKSDRRC.
OrthoDB	EOG43JC5J.
PhylomeDB	Q96DA2.
Gene expression databases
ArrayExpress	Q96DA2.
Bgee	Q96DA2.
CleanEx	HS_RAB39B.
Genevestigator	Q96DA2.
GermOnline	ENSG00000155961. Homo sapiens.
Family and domain databases
InterPro	IPR005225. Small_GTP-bd_dom. IPR001806. Small_GTPase. IPR003579. Small_GTPase_Rab_type. [Graphical view]
KO	K07925.
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	79915.
SOURCE	Search...

Entry information

Entry name

RB39B_HUMAN

Accession

Primary (citable) accession number: Q96DA2
Secondary accession number(s): Q5JT79, Q8NEX3

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 10, 2003
Last sequence update:	December 1, 2001
Last modified:	January 25, 2012
This is version 94 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.