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Protein

Rab GDP dissociation inhibitor alpha

Gene

GDI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

ReactomeiR-HSA-194840. Rho GTPase cycle.
R-HSA-8876198. RAB GEFs exchange GTP for GDP on RABs.

Names & Taxonomyi

Protein namesi
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 namesi
Name:GDI1
Synonyms:GDIL, OPHN2, RABGDIA, XAP4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000203879.11.
HGNCiHGNC:4226. GDI1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked 41 (MRX41)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:300849
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00813092L → P in MRX41; causes reduced binding and recycling of RAB3A. 1 PublicationCorresponds to variant dbSNP:rs121434607Ensembl.1
Natural variantiVAR_008131423R → P in MRX41. 1 PublicationCorresponds to variant dbSNP:rs121434609Ensembl.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi2664.
MalaCardsiGDI1.
MIMi300849. phenotype.
OpenTargetsiENSG00000203879.
Orphaneti777. X-linked non-syndromic intellectual disability.
PharmGKBiPA28641.

Polymorphism and mutation databases

BioMutaiGDI1.
DMDMi1707886.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000566711 – 447Rab GDP dissociation inhibitor alphaAdd BLAST447

Proteomic databases

EPDiP31150.
MaxQBiP31150.
PaxDbiP31150.
PeptideAtlasiP31150.
PRIDEiP31150.

2D gel databases

OGPiP31150.
REPRODUCTION-2DPAGEiIPI00010154.
UCD-2DPAGEiP31150.

PTM databases

iPTMnetiP31150.
PhosphoSitePlusiP31150.
SwissPalmiP31150.

Expressioni

Tissue specificityi

Brain; predominant in neural and sensory tissues.1 Publication

Gene expression databases

BgeeiENSG00000203879.
CleanExiHS_GDI1.
ExpressionAtlasiP31150. baseline and differential.
GenevisibleiP31150. HS.

Organism-specific databases

HPAiCAB012979.
HPA049290.
HPA057668.

Interactioni

Subunit structurei

Interacts with RHOH. Interacts with RAB1A, RAB3A, RAB5A and RAB10.3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108932. 84 interactors.
IntActiP31150. 36 interactors.
MINTiMINT-2859157.
STRINGi9606.ENSP00000394071.

Structurei

3D structure databases

ProteinModelPortaliP31150.
SMRiP31150.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Rab GDI family.Curated

Phylogenomic databases

eggNOGiKOG1439. Eukaryota.
COG5044. LUCA.
GeneTreeiENSGT00530000063044.
HOVERGENiHBG000839.
InParanoidiP31150.
KOiK17255.
OMAiEDPATHQ.
OrthoDBiEOG091G06PV.
PhylomeDBiP31150.
TreeFamiTF300449.

Family and domain databases

Gene3Di3.50.50.60. 1 hit.
InterProiView protein in InterPro
IPR036188. FAD/NAD-bd_sf.
IPR018203. GDP_dissociation_inhibitor.
IPR000806. RabGDI.
PANTHERiPTHR11787. PTHR11787. 1 hit.
PfamiView protein in Pfam
PF00996. GDI. 1 hit.
PRINTSiPR00892. RABGDI.
PR00891. RABGDIREP.
SUPFAMiSSF51905. SSF51905. 2 hits.

Sequencei

Sequence statusi: Complete.

P31150-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDEEYDVIVL GTGLTECILS GIMSVNGKKV LHMDRNPYYG GESSSITPLE
60 70 80 90 100
ELYKRFQLLE GPPESMGRGR DWNVDLIPKF LMANGQLVKM LLYTEVTRYL
110 120 130 140 150
DFKVVEGSFV YKGGKIYKVP STETEALASN LMGMFEKRRF RKFLVFVANF
160 170 180 190 200
DENDPKTFEG VDPQTTSMRD VYRKFDLGQD VIDFTGHALA LYRTDDYLDQ
210 220 230 240 250
PCLETVNRIK LYSESLARYG KSPYLYPLYG LGELPQGFAR LSAIYGGTYM
260 270 280 290 300
LNKPVDDIIM ENGKVVGVKS EGEVARCKQL ICDPSYIPDR VRKAGQVIRI
310 320 330 340 350
ICILSHPIKN TNDANSCQII IPQNQVNRKS DIYVCMISYA HNVAAQGKYI
360 370 380 390 400
AIASTTVETT DPEKEVEPAL ELLEPIDQKF VAISDLYEPI DDGCESQVFC
410 420 430 440
SCSYDATTHF ETTCNDIKDI YKRMAGTAFD FENMKRKQND VFGEAEQ
Length:447
Mass (Da):50,583
Last modified:October 1, 1996 - v2
Checksum:iBC283A445E50A652
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti34D → G in BAA08078 (PubMed:7585614).Curated1
Sequence conflicti36N → K in BAA08078 (PubMed:7585614).Curated1
Sequence conflicti149 – 151NFD → GTY in BAA08078 (PubMed:7585614).Curated3
Sequence conflicti347G → V in AAC15851 (Ref. 13) Curated1
Sequence conflicti409H → Q in AAC15851 (Ref. 13) Curated1
Sequence conflicti416D → G in AAC15851 (Ref. 13) Curated1
Sequence conflicti442F → S in BAA08078 (PubMed:7585614).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00813092L → P in MRX41; causes reduced binding and recycling of RAB3A. 1 PublicationCorresponds to variant dbSNP:rs121434607Ensembl.1
Natural variantiVAR_008131423R → P in MRX41. 1 PublicationCorresponds to variant dbSNP:rs121434609Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X79353 mRNA. Translation: CAA55908.1.
X79354
, X79355, X79356, X79357, X79358, X79359, X79360, X79364, X79361, X79362, 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. No translation available.
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.
CCDSiCCDS35452.1.
PIRiI37082.
RefSeqiNP_001484.1. NM_001493.2.
UniGeneiHs.595950.
Hs.74576.

Genome annotation databases

EnsembliENST00000447750; ENSP00000394071; ENSG00000203879.
GeneIDi2664.
KEGGihsa:2664.
UCSCiuc004fli.5. human.

Similar proteinsi

Entry informationi

Entry nameiGDIA_HUMAN
AccessioniPrimary (citable) accession number: P31150
Secondary accession number(s): P50394
, Q6FG50, Q7Z2G6, Q7Z2G9, Q7Z2H5, Q7Z2I6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: October 1, 1996
Last modified: October 25, 2017
This is version 180 of the entry and version 2 of the sequence. See 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families