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Protein

Rab GDP dissociation inhibitor alpha

Gene

GDI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
MIMi300104 gene
neXtProtiNX_P31150

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:rs121434607EnsemblClinVar.1
Natural variantiVAR_008131423R → P in MRX41. 1 PublicationCorresponds to variant dbSNP:rs121434609EnsemblClinVar.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
ProteomicsDBi54760

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 Expressed in 234 organ(s), highest expression level in frontal cortex
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108932, 86 interactors
IntActiP31150, 38 interactors
MINTiP31150
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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G5E9U5G5E9U5_HUMAN
Rab GDP dissociation inhibitor
GDI1 hCG_2039440
147Annotation score:
F8WE59F8WE59_HUMAN
Rab GDP dissociation inhibitor alph...
GDI1
40Annotation score:
F8WCU0F8WCU0_HUMAN
Rab GDP dissociation inhibitor alph...
GDI1
46Annotation score:

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:rs121434607EnsemblClinVar.1
Natural variantiVAR_008131423R → P in MRX41. 1 PublicationCorresponds to variant dbSNP:rs121434609EnsemblClinVar.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

Cross-referencesi

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

3D structure databases

ProteinModelPortaliP31150
SMRiP31150
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108932, 86 interactors
IntActiP31150, 38 interactors
MINTiP31150
STRINGi9606.ENSP00000394071

PTM databases

iPTMnetiP31150
PhosphoSitePlusiP31150
SwissPalmiP31150

Polymorphism and mutation databases

BioMutaiGDI1
DMDMi1707886

2D gel databases

OGPiP31150
REPRODUCTION-2DPAGEiIPI00010154
UCD-2DPAGEiP31150

Proteomic databases

EPDiP31150
MaxQBiP31150
PaxDbiP31150
PeptideAtlasiP31150
PRIDEiP31150
ProteomicsDBi54760

Protocols and materials databases

DNASUi2664
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2664
DisGeNETi2664
EuPathDBiHostDB:ENSG00000203879.11
GeneCardsiGDI1
H-InvDBiHIX0056464
HGNCiHGNC:4226 GDI1
HPAiCAB012979
HPA049290
HPA057668
MalaCardsiGDI1
MIMi300104 gene
300849 phenotype
neXtProtiNX_P31150
OpenTargetsiENSG00000203879
Orphaneti777 X-linked non-syndromic intellectual disability
PharmGKBiPA28641
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiGDI1 human
GeneWikiiGDI1
GenomeRNAii2664
PROiPR:P31150
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000203879 Expressed in 234 organ(s), highest expression level in frontal cortex
CleanExiHS_GDI1
ExpressionAtlasiP31150 baseline and differential
GenevisibleiP31150 HS

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
ProtoNetiSearch...

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: November 7, 2018
This is version 191 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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