P31150 (GDIA_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 124.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Rab GDP dissociation inhibitor alpha Short name=Rab GDI alpha Alternative name(s): Guanosine diphosphate dissociation inhibitor 1 Short name=GDI-1 Oligophrenin-2 Protein XAP-4 | ||||
| Gene names |
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| 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 | 447 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. |
| Subunit structure | Interacts with RHOH. Ref.16 |
| Subcellular location | Cytoplasm By similarity. |
| Tissue specificity | Brain; predominant in neural and sensory tissues. Ref.15 |
| Involvement in disease | Defects in GDI1 are the cause of mental retardation X-linked type 41 (MRX41) [MIM:300849]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. Ref.19 Ref.20 |
| Sequence similarities | Belongs to the Rab GDI family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Disease | Disease mutation Mental retardation |
| Molecular function | GTPase activation |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Direct protein sequencing Reference proteome |
| Gene Ontology (GO) | |
| Biological process | protein transport Inferred from electronic annotation. Source: InterPro regulation of small GTPase mediated signal transductionTraceable author statement. Source: Reactome small GTPase mediated signal transductionTraceable author statement. Source: Reactome |
| Cellular component | cytosol Traceable author statement. Source: Reactome midbodyInferred from direct assay. Source: UniProtKB |
| Molecular function | GTPase activator activity Inferred from electronic annotation. Source: UniProtKB-KW Rab GDP-dissociation inhibitor activityInferred from electronic annotation. Source: InterPro protein bindingInferred from physical interaction Ref.16. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 447 | 447 | Rab GDP dissociation inhibitor alpha | PRO_0000056671 | |||||
Amino acid modifications | |||||||||
| Modified residue | 333 | 1 | Phosphotyrosine Ref.17 | ||||||
| Modified residue | 339 | 1 | Phosphotyrosine By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 92 | 1 | L → P in MRX41; causes reduced binding and recycling of RAB3A. Ref.19 | VAR_008130 | |||||
| Natural variant | 423 | 1 | R → P in MRX41. Ref.20 | VAR_008131 | |||||
Experimental info | |||||||||
| Sequence conflict | 34 | 1 | D → G in BAA08078. Ref.2 | ||||||
| Sequence conflict | 36 | 1 | N → K in BAA08078. Ref.2 | ||||||
| Sequence conflict | 149 – 151 | 3 | NFD → GTY in BAA08078. Ref.2 | ||||||
| Sequence conflict | 347 | 1 | G → V in AAC15851. Ref.13 | ||||||
| Sequence conflict | 409 | 1 | H → Q in AAC15851. Ref.13 | ||||||
| Sequence conflict | 416 | 1 | D → G in AAC15851. Ref.13 | ||||||
| Sequence conflict | 442 | 1 | F → S in BAA08078. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Evolutionary conservation and genomic organization of XAP-4, an Xq28 located gene coding for a human rab GDP-dissociation inhibitor (GDI)." Sedlacek Z., Konecki D.S., Korn B., Klauck S.M., Poustka A. Mamm. Genome 5:633-639(1994) [PubMed: 7849400] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. |
| [2] | "Cloning of a brain-type isoform of human Rab GDI and its expression in human neuroblastoma cell lines and tumor specimens." Nishimura N., Goji J., Nakamura H., Orita S., Takai Y., Sano K. Cancer Res. 55:5445-5450(1995) [PubMed: 7585614] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina. |
| [3] | "Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci." Chen E.Y., Zollo M., Mazzarella R.A., Ciccodicola A., Chen C.-N., Zuo L., Heiner C., Burough F.W., Ripetto M., Schlessinger D., D'Urso M. Hum. Mol. Genet. 5:659-668(1996) [PubMed: 8733135] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. |
| [4] | Feng Z., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B. Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [5] | "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees." Kitano T., Schwarz C., Nickel B., Paeaebo S. Mol. Biol. Evol. 20:1281-1289(2003) [PubMed: 12777533] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. |
| [6] | "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [7] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [8] | "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. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [9] | 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. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [10] | "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: Brain and Lung. |
| [11] | "Rapid identification of gene sequences for transcriptional map assembly by direct cDNA screening of genomic reference libraries." Hochgeschwender U. Submitted (SEP-1994) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 143-181. |
| [12] | Lubec G., Vishwanath V. Submitted (MAR-2007) to UniProtKB Cited for: PROTEIN SEQUENCE OF 143-156; 174-193 AND 222-240, MASS SPECTROMETRY. Tissue: Brain and Cajal-Retzius cell. |
| [13] | Bhat K.S. Submitted (NOV-1992) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 328-436. |
| [14] | "Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes." Rasmussen H.H., van Damme J., Puype M., Gesser B., Celis J.E., Vandekerckhove J. Electrophoresis 13:960-969(1992) [PubMed: 1286667] [Abstract] Cited for: PROTEIN SEQUENCE OF 349-361. Tissue: Keratinocyte. |
| [15] | "Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport." Bachner D., Sedlacek Z., Korn B., Hameister H., Poustka A. Hum. Mol. Genet. 4:701-708(1995) [PubMed: 7543319] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [16] | "The hematopoiesis-specific GTP-binding protein RhoH is GTPase deficient and modulates activities of other Rho GTPases by an inhibitory function." Li X., Bu X., Lu B., Avraham H., Flavell R.A., Lim B. Mol. Cell. Biol. 22:1158-1171(2002) [PubMed: 11809807] [Abstract] Cited for: INTERACTION WITH RHOH. |
| [17] | "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells." Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J. Nat. Biotechnol. 23:94-101(2005) [PubMed: 15592455] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-333, MASS SPECTROMETRY. |
| [18] | "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]. |
| [19] | "Mutations in GDI1 are responsible for X-linked non-specific mental retardation." D'Adamo P., Menegon A., Lo Nigro C., Grasso M., Gulisano M., Tamanini F., Bienvenu T., Gedeon A.K., Oostra B., Wu S.-K., Tandon A., Valtorta F., Balch W.E., Chelly J., Toniolo D. Nat. Genet. 19:134-139(1998) [PubMed: 9620768] [Abstract] Cited for: VARIANT MRX41 PRO-92. |
| [20] | "Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor." Bienvenu T., Des Portes V., Saint Martin A., McDonell N., Billuart P., Carrie A., Vinet M.-C., Couvert P., Toniolo D., Ropers H.-H., Moraine C., van Bokhoven H., Fryns J.-P., Kahn A., Beldjord C., Chelly J. Hum. Mol. Genet. 7:1311-1315(1998) [PubMed: 9668174] [Abstract] Cited for: VARIANT MRX41 PRO-423. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | X79353 mRNA. Translation: CAA55908.1. X79354 X79363 Genomic DNA. Translation: CAA55909.1.D45021 mRNA. Translation: BAA08078.1. L44140 Genomic DNA. Translation: AAA92648.1. AF400433 mRNA. Translation: AAK92482.1. AB101741 Genomic DNA. Translation: BAC80330.1. AB101742 Genomic DNA. Translation: BAC80331.1. AB101743 Genomic DNA. Translation: BAC80332.1. AB101744 Genomic DNA. Translation: BAC80333.1. AB101745 Genomic DNA. Translation: BAC80334.1. AB101746 Genomic DNA. Translation: BAC80335.1. AB101747 Genomic DNA. Translation: BAC80336.1. AB101748 Genomic DNA. Translation: BAC80337.1. AB101749 Genomic DNA. Translation: BAC80338.1. AB101750 Genomic DNA. Translation: BAC80339.1. AB101751 Genomic DNA. Translation: BAC80340.1. AB101752 Genomic DNA. Translation: BAC80341.1. AB101753 Genomic DNA. Translation: BAC80342.1. AB101754 Genomic DNA. Translation: BAC80343.1. AB101755 Genomic DNA. Translation: BAC80344.1. AB101756 Genomic DNA. Translation: BAC80345.1. AB101757 Genomic DNA. Translation: BAC80346.1. AB101758 Genomic DNA. Translation: BAC80347.1. AB101759 Genomic DNA. Translation: BAC80348.1. AB101760 Genomic DNA. Translation: BAC80349.1. AB101771 Genomic DNA. Translation: BAC80360.1. AB101772 Genomic DNA. Translation: BAC80361.1. AB101773 Genomic DNA. Translation: BAC80362.1. AB101774 Genomic DNA. Translation: BAC80363.1. AB101775 Genomic DNA. Translation: BAC80364.1. AB101776 Genomic DNA. Translation: BAC80365.1. AB101777 Genomic DNA. Translation: BAC80366.1. AB101778 Genomic DNA. Translation: BAC80367.1. AB101779 Genomic DNA. Translation: BAC80368.1. AB101780 Genomic DNA. Translation: BAC80369.1. AB101781 Genomic DNA. Translation: BAC80370.1. AB101782 Genomic DNA. Translation: BAC80371.1. AB101783 Genomic DNA. Translation: BAC80372.1. AB101784 Genomic DNA. Translation: BAC80373.1. AB101785 Genomic DNA. Translation: BAC80374.1. AB101786 Genomic DNA. Translation: BAC80375.1. AB101787 Genomic DNA. Translation: BAC80376.1. AB101788 Genomic DNA. Translation: BAC80377.1. AB101789 Genomic DNA. Translation: BAC80378.1. AB101790 Genomic DNA. Translation: BAC80379.1. AB101801 Genomic DNA. Translation: BAC80390.1. AB101802 Genomic DNA. Translation: BAC80391.1. AB101803 Genomic DNA. Translation: BAC80392.1. AB101804 Genomic DNA. Translation: BAC80393.1. AB101805 Genomic DNA. Translation: BAC80394.1. AB101806 Genomic DNA. Translation: BAC80395.1. AB101807 Genomic DNA. Translation: BAC80396.1. AB101808 Genomic DNA. Translation: BAC80397.1. AB101809 Genomic DNA. Translation: BAC80398.1. AB101810 Genomic DNA. Translation: BAC80399.1. AB101811 Genomic DNA. Translation: BAC80400.1. AB101812 Genomic DNA. Translation: BAC80401.1. AB101813 Genomic DNA. Translation: BAC80402.1. AB101814 Genomic DNA. Translation: BAC80403.1. AB101815 Genomic DNA. Translation: BAC80404.1. AB101816 Genomic DNA. Translation: BAC80405.1. AB101817 Genomic DNA. Translation: BAC80406.1. AB101818 Genomic DNA. Translation: BAC80407.1. AB101819 Genomic DNA. Translation: BAC80408.1. AB101820 Genomic DNA. Translation: BAC80409.1. AB101831 Genomic DNA. Translation: BAC80420.1. AB101832 Genomic DNA. Translation: BAC80421.1. AB101833 Genomic DNA. Translation: BAC80422.1. AB101834 Genomic DNA. Translation: BAC80423.1. AB101835 Genomic DNA. Translation: BAC80424.1. AB101836 Genomic DNA. Translation: BAC80425.1. AB101837 Genomic DNA. Translation: BAC80426.1. AB101838 Genomic DNA. Translation: BAC80427.1. AB101839 Genomic DNA. Translation: BAC80428.1. AB101840 Genomic DNA. Translation: BAC80429.1. AB101841 Genomic DNA. Translation: BAC80430.1. AB101842 Genomic DNA. Translation: BAC80431.1. AB101843 Genomic DNA. Translation: BAC80432.1. AB101844 Genomic DNA. Translation: BAC80433.1. AB101845 Genomic DNA. Translation: BAC80434.1. AB101846 Genomic DNA. Translation: BAC80435.1. AB101847 Genomic DNA. Translation: BAC80436.1. AB101848 Genomic DNA. Translation: BAC80437.1. AB101849 Genomic DNA. Translation: BAC80438.1. AB101850 Genomic DNA. Translation: BAC80439.1. AB102647 mRNA. Translation: BAC81116.1. CR542258 mRNA. Translation: CAG47054.1. CR542276 mRNA. Translation: CAG47072.1. BT019884 mRNA. Translation: AAV38687.1. BX936385 Genomic DNA. Translation: CAI95780.1. CH471172 Genomic DNA. Translation: EAW72710.1. BC000317 mRNA. Translation: AAH00317.1. BC012201 mRNA. Translation: AAH12201.1. U14623 Genomic DNA. Translation: AAA21558.1. L05086 mRNA. Translation: AAC15851.1. |
| IPI | IPI00010154. |
| PIR | I37082. |
| RefSeq | NP_001484.1. NM_001493.2. |
| UniGene | Hs.74576. |
3D structure databases | |
| ProteinModelPortal | P31150. |
| SMR | P31150. Positions 1-430. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P31150. 6 interactions. |
| MINT | MINT-2859157. |
| STRING | P31150. |
PTM databases | |
| PhosphoSite | P31150. |
Polymorphism databases | |
| DMDM | 1707886. |
2D gel databases | |
| Aarhus/Ghent-2DPAGE | 8408. IEF. |
| OGP | P31150. |
| REPRODUCTION-2DPAGE | IPI00010154. |
| UCD-2DPAGE | P31150. |
Proteomic databases | |
| PeptideAtlas | P31150. |
| PRIDE | P31150. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000447750; ENSP00000394071; ENSG00000203879. |
| GeneID | 2664. |
| KEGG | hsa:2664. |
| UCSC | uc004fli.2. human. |
Organism-specific databases | |
| CTD | 2664. |
| GeneCards | GC0XP153665. |
| H-InvDB | HIX0056303. |
| HGNC | HGNC:4226. GDI1. |
| HPA | CAB012979. |
| MIM | 300104. gene. 300849. phenotype. |
| neXtProt | NX_P31150. |
| Orphanet | 777. X-linked nonsyndromic intellectual deficit. |
| PharmGKB | PA28641. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG05263. |
| GeneTree | ENSGT00530000063044. |
| HOVERGEN | HBG000839. |
| InParanoid | P31150. |
| OMA | CKQVYCD. |
| OrthoDB | EOG4H19VS. |
| PhylomeDB | P31150. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | p38alphabetadownstreampathway. Signaling mediated by p38-alpha and p38-beta. |
| Reactome | REACT_111102. Signal Transduction. |
Gene expression databases | |
| ArrayExpress | P31150. |
| Bgee | P31150. |
| CleanEx | HS_GDI1. |
| Genevestigator | P31150. |
| GermOnline | ENSG00000203879. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR018203. GDP_dissociation_inhibitor. IPR000806. RabGDI. [Graphical view] |
| Pfam | PF00996. GDI. 1 hit. [Graphical view] |
| PRINTS | PR00892. RABGDI. PR00891. RABGDIREP. |
| ProtoNet | Search... |
Other | |
| NextBio | 10512. |
| SOURCE | Search... |
Entry information
| Entry name | GDIA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P31150 Secondary accession number(s): P50394 Q7Z2I6 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with