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Q96DA2

- RB39B_HUMAN

UniProt

Q96DA2 - RB39B_HUMAN

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Protein
Ras-related protein Rab-39B
Gene
RAB39B
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

May be involved in vesicular trafficking. Plays a role in synapse formation By similarity.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi15 – 228GTP By similarity
Nucleotide bindingi64 – 685GTP By similarity
Nucleotide bindingi123 – 1264GTP By similarity

GO - Molecular functioni

  1. GTP binding Source: UniProtKB-KW
  2. protein binding Source: IntAct

GO - Biological processi

  1. protein transport Source: UniProtKB-KW
  2. small GTPase mediated signal transduction Source: InterPro
  3. synapse organization Source: UniProtKB
  4. vesicle-mediated transport Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Ras-related protein Rab-39B
Gene namesi
Name:RAB39B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:16499. RAB39B.

Subcellular locationi

Cell membrane; Lipid-anchor; Cytoplasmic side Reviewed prediction. Golgi apparatus
Note: Partial colocalization with markers that cycle from the cell surface to the trans-Golgi network By similarity.1 Publication

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB
  2. intracellular Source: LIFEdb
  3. plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Mental retardation

Organism-specific databases

MIMi300271. phenotype.
Orphaneti777. X-linked non-syndromic intellectual disability.
PharmGKBiPA34131.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 213213Ras-related protein Rab-39B
PRO_0000121255Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi211 – 2111S-geranylgeranyl cysteine By similarity
Modified residuei213 – 2131Cysteine methyl ester By similarity
Lipidationi213 – 2131S-geranylgeranyl cysteine By similarity

Keywords - PTMi

Lipoprotein, Methylation, Prenylation

Proteomic databases

MaxQBiQ96DA2.
PaxDbiQ96DA2.
PeptideAtlasiQ96DA2.
PRIDEiQ96DA2.

PTM databases

PhosphoSiteiQ96DA2.

Expressioni

Tissue specificityi

Highly expressed in the brain.1 Publication

Gene expression databases

BgeeiQ96DA2.
CleanExiHS_RAB39B.
GenevestigatoriQ96DA2.

Organism-specific databases

HPAiHPA001114.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ZDHHC17Q8IUH53EBI-9089467,EBI-524753

Protein-protein interaction databases

BioGridi125507. 4 interactions.
IntActiQ96DA2. 1 interaction.
MINTiMINT-4724040.
STRINGi9606.ENSP00000358466.

Structurei

3D structure databases

ProteinModelPortaliQ96DA2.
SMRiQ96DA2. Positions 7-171.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi37 – 459Effector region By similarity

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1100.
HOGENOMiHOG000233968.
HOVERGENiHBG009351.
InParanoidiQ96DA2.
KOiK07925.
OMAiTKSDRRC.
OrthoDBiEOG7JHM6Q.
PhylomeDBiQ96DA2.
TreeFamiTF300032.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR003579. Small_GTPase_Rab_type.
[Graphical view]
PfamiPF00071. Ras. 1 hit.
[Graphical view]
PRINTSiPR00449. RASTRNSFRMNG.
SMARTiSM00175. RAB. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51419. RAB. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q96DA2-1 [UniParc]FASTAAdd to Basket

« Hide

MEAIWLYQFR LIVIGDSTVG KSCLIRRFTE GRFAQVSDPT VGVDFFSRLV    50
EIEPGKRIKL QIWDTAGQER FRSITRAYYR NSVGGLLLFD ITNRRSFQNV 100
HEWLEETKVH VQPYQIVFVL VGHKCDLDTQ RQVTRHEAEK LAAAYGMKYI 150
ETSARDAINV EKAFTDLTRD IYELVKRGEI TIQEGWEGVK SGFVPNVVHS 200
SEEVVKSERR CLC 213
Length:213
Mass (Da):24,622
Last modified:December 1, 2001 - v1
Checksum:i2B2C5B35C61FA88E
GO

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti57 – 571R → T in AAL12244. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY052478 mRNA. Translation: AAL12244.1.
AL834460 mRNA. Translation: CAD39120.1.
AL356738 Genomic DNA. Translation: CAI41468.1.
BC009714 mRNA. Translation: AAH09714.1.
CCDSiCCDS14766.1.
RefSeqiNP_741995.1. NM_171998.3.
UniGeneiHs.632832.

Genome annotation databases

EnsembliENST00000369454; ENSP00000358466; ENSG00000155961.
ENST00000593872; ENSP00000471934; ENSG00000268359.
GeneIDi116442.
KEGGihsa:116442.
UCSCiuc004fne.3. human.

Polymorphism databases

DMDMi27734447.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY052478 mRNA. Translation: AAL12244.1 .
AL834460 mRNA. Translation: CAD39120.1 .
AL356738 Genomic DNA. Translation: CAI41468.1 .
BC009714 mRNA. Translation: AAH09714.1 .
CCDSi CCDS14766.1.
RefSeqi NP_741995.1. NM_171998.3.
UniGenei Hs.632832.

3D structure databases

ProteinModelPortali Q96DA2.
SMRi Q96DA2. Positions 7-171.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125507. 4 interactions.
IntActi Q96DA2. 1 interaction.
MINTi MINT-4724040.
STRINGi 9606.ENSP00000358466.

PTM databases

PhosphoSitei Q96DA2.

Polymorphism databases

DMDMi 27734447.

Proteomic databases

MaxQBi Q96DA2.
PaxDbi Q96DA2.
PeptideAtlasi Q96DA2.
PRIDEi Q96DA2.

Protocols and materials databases

DNASUi 116442.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369454 ; ENSP00000358466 ; ENSG00000155961 .
ENST00000593872 ; ENSP00000471934 ; ENSG00000268359 .
GeneIDi 116442.
KEGGi hsa:116442.
UCSCi uc004fne.3. human.

Organism-specific databases

CTDi 116442.
GeneCardsi GC0XM154487.
HGNCi HGNC:16499. RAB39B.
HPAi HPA001114.
MIMi 300271. phenotype.
300774. gene.
neXtProti NX_Q96DA2.
Orphaneti 777. X-linked non-syndromic intellectual disability.
PharmGKBi PA34131.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1100.
HOGENOMi HOG000233968.
HOVERGENi HBG009351.
InParanoidi Q96DA2.
KOi K07925.
OMAi TKSDRRC.
OrthoDBi EOG7JHM6Q.
PhylomeDBi Q96DA2.
TreeFami TF300032.

Miscellaneous databases

GeneWikii RAB39B.
GenomeRNAii 116442.
NextBioi 79915.
PROi Q96DA2.
SOURCEi Search...

Gene expression databases

Bgeei Q96DA2.
CleanExi HS_RAB39B.
Genevestigatori Q96DA2.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR003579. Small_GTPase_Rab_type.
[Graphical view ]
Pfami PF00071. Ras. 1 hit.
[Graphical view ]
PRINTSi PR00449. RASTRNSFRMNG.
SMARTi SM00175. RAB. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
TIGRFAMsi TIGR00231. small_GTP. 1 hit.
PROSITEi PS51419. RAB. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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] [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. Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN MRX72.

Entry informationi

Entry nameiRB39B_HUMAN
AccessioniPrimary (citable) accession number: Q96DA2
Secondary accession number(s): Q5JT79, Q8NEX3
Entry historyi
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 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 X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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