Human Gene GDI1 (uc004fli.4) Description and Page Index
  Description: Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.
RefSeq Summary (NM_001493): GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI1 is expressed primarily in neural and sensory tissues. Mutations in GDI1 have been linked to X-linked nonspecific cognitive disability. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: HM005621.1, SRR3476690.997560.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000447750.7/ ENSP00000394071.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chrX:153,665,259-153,671,814 Size: 6,556 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chrX:153,665,601-153,671,019 Size: 5,419 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:153,665,259-153,671,814)mRNA (may differ from genome)Protein (447 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
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neXtProtOMIMPubMedReactomeStanford SOURCEUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: GDIA_HUMAN
DESCRIPTION: RecName: Full=Rab GDP dissociation inhibitor alpha; Short=Rab GDI alpha; AltName: Full=Guanosine diphosphate dissociation inhibitor 1; Short=GDI-1; AltName: Full=Oligophrenin-2; AltName: Full=Protein XAP-4;
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: Interacts with RHOH. Interacts with RAB10; negatively regulates RAB10 association with membranes and activation.
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
TISSUE SPECIFICITY: Brain; predominant in neural and sensory tissues.
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.
SIMILARITY: Belongs to the Rab GDI family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MRX3";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GDI1
CDC HuGE Published Literature: GDI1

-  MalaCards Disease Associations
  MalaCards Gene Search: GDI1
Diseases sorted by gene-association score: x-linked non-specific intellectual disability* (69), tumor of exocrine pancreas (16), mohr-tranebjaerg syndrome (10), mental retardation, x-linked, syndromic 13 (9), non-syndromic x-linked intellectual disability (8), mental retardation, x-linked syndromic, lubs type (8), chromosomal duplication syndrome (6), insomnia, fatal familial (6), non-syndromic intellectual disability (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 241.06 RPKM in Brain - Cerebellum
Total median expression: 4300.43 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -208.92342-0.611 Picture PostScript Text
3' UTR -258.02795-0.325 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018203 - GDP_dissociation_inhibitor
IPR000806 - RabGDI

Pfam Domains:
PF00996 - GDP dissociation inhibitor

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
51905 - FAD/NAD(P)-binding domain
51971 - Nucleotide-binding domain
54373 - FAD-linked reductases, C-terminal domain

ModBase Predicted Comparative 3D Structure on P31150
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005092 GDP-dissociation inhibitor activity
GO:0005093 Rab GDP-dissociation inhibitor activity
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0017137 Rab GTPase binding

Biological Process:
GO:0007165 signal transduction
GO:0007264 small GTPase mediated signal transduction
GO:0015031 protein transport
GO:0032482 Rab protein signal transduction
GO:0043547 positive regulation of GTPase activity
GO:0045773 positive regulation of axon extension
GO:0050771 negative regulation of axonogenesis
GO:0050790 regulation of catalytic activity
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051592 response to calcium ion
GO:0090315 negative regulation of protein targeting to membrane

Cellular Component:
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0030424 axon
GO:0030496 midbody
GO:0032991 macromolecular complex
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0043209 myelin sheath


-  Descriptions from all associated GenBank mRNAs
  HM005621 - Homo sapiens clone HTL-S-208a testis secretory sperm-binding protein Li 208a mRNA, complete cds.
AK294893 - Homo sapiens cDNA FLJ58843 complete cds, highly similar to Rab GDP dissociation inhibitor alpha.
AK295306 - Homo sapiens cDNA FLJ52902 complete cds, highly similar to Rab GDP dissociation inhibitor alpha.
AK303248 - Homo sapiens cDNA FLJ53519 complete cds, highly similar to Rab GDP dissociation inhibitor alpha.
AL833629 - Homo sapiens mRNA; cDNA DKFZp686C0279 (from clone DKFZp686C0279).
AK090746 - Homo sapiens cDNA FLJ33427 fis, clone BRACE2020709, highly similar to RAB GDP DISSOCIATION INHIBITOR ALPHA.
BC012201 - Homo sapiens GDP dissociation inhibitor 1, mRNA (cDNA clone MGC:17242 IMAGE:4156714), complete cds.
X79353 - H.sapiens XAP-4 mRNA for GDP-dissociation inhibitor.
JD022084 - Sequence 3108 from Patent EP1572962.
BC000317 - Homo sapiens GDP dissociation inhibitor 1, mRNA (cDNA clone MGC:8466 IMAGE:2821663), complete cds.
D45021 - Homo sapiens mRNA for rab GDI alpha, complete cds.
JD029828 - Sequence 10852 from Patent EP1572962.
AF400433 - Homo sapiens GDP dissociation inhibitor 1 (GDI1) mRNA, complete cds.
CU680266 - Synthetic construct Homo sapiens gateway clone IMAGE:100019445 5' read GDI1 mRNA.
DQ892049 - Synthetic construct clone IMAGE:100004679; FLH182694.01X; RZPDo839B01140D GDP dissociation inhibitor 1 (GDI1) gene, encodes complete protein.
DQ895243 - Synthetic construct Homo sapiens clone IMAGE:100009703; FLH182690.01L; RZPDo839B01139D GDP dissociation inhibitor 1 (GDI1) gene, encodes complete protein.
DQ896843 - Synthetic construct Homo sapiens clone IMAGE:100011303; FLH263655.01L; RZPDo839B02139D GDP dissociation inhibitor 1 (GDI1) gene, encodes complete protein.
AM392660 - Synthetic construct Homo sapiens clone IMAGE:100002062 for hypothetical protein (GDI1 gene).
AM393226 - Synthetic construct Homo sapiens clone IMAGE:100002048 for hypothetical protein (GDI1 gene).
AM393601 - Synthetic construct Homo sapiens clone IMAGE:100002061 for hypothetical protein (GDI1 gene).
KJ891232 - Synthetic construct Homo sapiens clone ccsbBroadEn_00626 GDI1 gene, encodes complete protein.
KR709671 - Synthetic construct Homo sapiens clone CCSBHm_00005019 GDI1 (GDI1) mRNA, encodes complete protein.
KR709672 - Synthetic construct Homo sapiens clone CCSBHm_00005020 GDI1 (GDI1) mRNA, encodes complete protein.
AB463679 - Synthetic construct DNA, clone: pF1KB8101, Homo sapiens GDI1 gene for GDP dissociation inhibitor 1, without stop codon, in Flexi system.
CR542276 - Homo sapiens full open reading frame cDNA clone RZPDo834F0826D for gene GDI1, GDP dissociation inhibitor 1; complete cds, without stopcodon.
KU178091 - Homo sapiens GDP dissociation inhibitor 1 isoform 1 (GDI1) mRNA, partial cds.
KU178092 - Homo sapiens GDP dissociation inhibitor 1 isoform 2 (GDI1) mRNA, complete cds, alternatively spliced.
AB102647 - Homo sapiens GDI1 mRNA for GDP dissociation inhibitor 1, complete cds.
BT019884 - Homo sapiens GDP dissociation inhibitor 1 mRNA, complete cds.
CR542258 - Homo sapiens full open reading frame cDNA clone RZPDo834B0826D for gene GDI1, GDP dissociation inhibitor 1; complete cds, incl. stopcodon.
JD026391 - Sequence 7415 from Patent EP1572962.
JD026392 - Sequence 7416 from Patent EP1572962.
JD026393 - Sequence 7417 from Patent EP1572962.
AK131466 - Homo sapiens cDNA FLJ16632 fis, clone TESTI4024387.
JD034343 - Sequence 15367 from Patent EP1572962.
JD022173 - Sequence 3197 from Patent EP1572962.
JD031783 - Sequence 12807 from Patent EP1572962.
JD023347 - Sequence 4371 from Patent EP1572962.
JD023348 - Sequence 4372 from Patent EP1572962.
JD025063 - Sequence 6087 from Patent EP1572962.
JD029723 - Sequence 10747 from Patent EP1572962.
JD035081 - Sequence 16105 from Patent EP1572962.
JD024962 - Sequence 5986 from Patent EP1572962.
JD032845 - Sequence 13869 from Patent EP1572962.
AK123405 - Homo sapiens cDNA FLJ41411 fis, clone BRHIP2001099, highly similar to RAB GDP DISSOCIATION INHIBITOR ALPHA.
L05086 - Homo sapiens GDP dissociation inhibitor mRNA, partial cds.
X74608 - H.sapiens XAP-4 mRNA.
X87194 - H.sapiens mRNA for 1A gene.
EF212243 - Homo sapiens clone EVOFOLD_TAR_1597_REV mRNA sequence.
JD405708 - Sequence 386732 from Patent EP1572962.
JD104600 - Sequence 85624 from Patent EP1572962.
JD272509 - Sequence 253533 from Patent EP1572962.
JD157264 - Sequence 138288 from Patent EP1572962.
JD549950 - Sequence 530974 from Patent EP1572962.
JD149166 - Sequence 130190 from Patent EP1572962.
JD390276 - Sequence 371300 from Patent EP1572962.
JD528250 - Sequence 509274 from Patent EP1572962.
JD144953 - Sequence 125977 from Patent EP1572962.
JD355151 - Sequence 336175 from Patent EP1572962.
JD327602 - Sequence 308626 from Patent EP1572962.
JD157255 - Sequence 138279 from Patent EP1572962.
JD387471 - Sequence 368495 from Patent EP1572962.
JD335879 - Sequence 316903 from Patent EP1572962.
JD389441 - Sequence 370465 from Patent EP1572962.
JD397413 - Sequence 378437 from Patent EP1572962.
JD415549 - Sequence 396573 from Patent EP1572962.
JD252384 - Sequence 233408 from Patent EP1572962.
JD293154 - Sequence 274178 from Patent EP1572962.
JD501636 - Sequence 482660 from Patent EP1572962.
EF212248 - Homo sapiens clone EVOFOLD_TAR_6757_REV mRNA sequence.
JD510690 - Sequence 491714 from Patent EP1572962.
JD531010 - Sequence 512034 from Patent EP1572962.
JD547224 - Sequence 528248 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P31150 (Reactome details) participates in the following event(s):

R-HSA-194854 GDIs block activation of Rho GTPase:GDP
R-HSA-195146 Dissociation of Rho GTP:GDP from GDI complex
R-HSA-8875318 RAB3 GEFs exchange GTP for GDP on RAB3A
R-HSA-8875320 RAB5 GEFs exchange GTP for GDP on RAB5
R-HSA-8876188 DENND4s exchange GTP for GDP on RAB10
R-HSA-8876190 RAB8 GEFs exchange GTP for GDP on RAB8
R-HSA-8876191 RAB9 GEFs exchange GTP for GDP on RAB9
R-HSA-8876193 RIC1-RGP1 exchanges GTP for GDP on RAB6
R-HSA-8876454 DENND3 exchanges GTP for GDP on RAB12
R-HSA-8876615 RAB13 GEFs exchange GTP for GDP on RAB13
R-HSA-8876616 DENND6A,B exchange GTP for GDP on RAB14
R-HSA-8876837 RAB21 GEFs exchange GTP for GDP on RAB21
R-HSA-8877308 MADD exchanges GTP for GDP on RAB27
R-HSA-8877311 RAB31 GEFs exchange GTP for GDP on RAB31
R-HSA-8877451 MON1:CCZ1 exchanges GTP for GDP on RAB7
R-HSA-8877475 TRAPPC complexes exchange GTP for GDP on RAB1
R-HSA-8877612 DENND1s exchange GTP for GDP on RAB35
R-HSA-8877760 HPS1:HPS4 exchange GTP for GDP on RAB32 and RAB38
R-HSA-8877813 DENND5A,B exchange GTP for GDP on RAB39
R-HSA-8877998 RAB3GAP1:RAB3GAP2 exchanges GTP for GDP on RAB18
R-HSA-194840 Rho GTPase cycle
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs
R-HSA-194315 Signaling by Rho GTPases
R-HSA-9007101 Rab regulation of trafficking
R-HSA-162582 Signal Transduction
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: GDIA_HUMAN, GDIL, NM_001493, NP_001484, OPHN2, P31150, P50394, Q6FG50, Q7Z2G6, Q7Z2G9, Q7Z2H5, Q7Z2I6, RABGDIA, XAP4
UCSC ID: uc004fli.4
RefSeq Accession: NM_001493
Protein: P31150 (aka GDIA_HUMAN)
CCDS: CCDS35452.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001493.2
exon count: 11CDS single in 3' UTR: no RNA size: 2505
ORF size: 1344CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2888.00frame shift in genome: no % Coverage: 99.04
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.