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Q96DA2 (RB39B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ras-related protein Rab-39B
Gene names
Name:RAB39B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length213 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in vesicular trafficking. Plays 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

Mental retardation, X-linked 72 (MRX72) [MIM:300271]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the small GTPase superfamily. Rab family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ZDHHC17Q8IUH53EBI-9089467,EBI-524753

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 213213Ras-related protein Rab-39B
PRO_0000121255

Regions

Nucleotide binding15 – 228GTP By similarity
Nucleotide binding64 – 685GTP By similarity
Nucleotide binding123 – 1264GTP By similarity
Motif37 – 459Effector region By similarity

Amino acid modifications

Modified residue2131Cysteine methyl ester By similarity
Lipidation2111S-geranylgeranyl cysteine By similarity
Lipidation2131S-geranylgeranyl cysteine By similarity

Experimental info

Sequence conflict571R → T in AAL12244. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q96DA2 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 2B2C5B35C61FA88E

FASTA21324,622
        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 

« Hide

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , Raynaud M., Chelly J., de Brouwer A.P., Toniolo D., D'Adamo P.
Am. J. Hum. Genet. 86:185-195(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN MRX72.

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.
CCDSCCDS14766.1.
RefSeqNP_741995.1. NM_171998.3.
UniGeneHs.632832.

3D structure databases

ProteinModelPortalQ96DA2.
SMRQ96DA2. Positions 7-171.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125507. 4 interactions.
IntActQ96DA2. 1 interaction.
MINTMINT-4724040.
STRING9606.ENSP00000358466.

PTM databases

PhosphoSiteQ96DA2.

Polymorphism databases

DMDM27734447.

Proteomic databases

MaxQBQ96DA2.
PaxDbQ96DA2.
PeptideAtlasQ96DA2.
PRIDEQ96DA2.

Protocols and materials databases

DNASU116442.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369454; ENSP00000358466; ENSG00000155961.
ENST00000593872; ENSP00000471934; ENSG00000268359.
GeneID116442.
KEGGhsa:116442.
UCSCuc004fne.3. human.

Organism-specific databases

CTD116442.
GeneCardsGC0XM154487.
HGNCHGNC:16499. RAB39B.
HPAHPA001114.
MIM300271. phenotype.
300774. gene.
neXtProtNX_Q96DA2.
Orphanet777. X-linked non-syndromic intellectual disability.
PharmGKBPA34131.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1100.
HOGENOMHOG000233968.
HOVERGENHBG009351.
InParanoidQ96DA2.
KOK07925.
OMATKSDRRC.
OrthoDBEOG7JHM6Q.
PhylomeDBQ96DA2.
TreeFamTF300032.

Gene expression databases

BgeeQ96DA2.
CleanExHS_RAB39B.
GenevestigatorQ96DA2.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR003579. Small_GTPase_Rab_type.
[Graphical view]
PfamPF00071. Ras. 1 hit.
[Graphical view]
PRINTSPR00449. RASTRNSFRMNG.
SMARTSM00175. RAB. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
TIGRFAMsTIGR00231. small_GTP. 1 hit.
PROSITEPS51419. RAB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiRAB39B.
GenomeRNAi116442.
NextBio79915.
PROQ96DA2.
SOURCESearch...

Entry information

Entry nameRB39B_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM