UniProtKB - Q9Y5P6 (GMPPB_HUMAN)
Protein
Mannose-1-phosphate guanyltransferase beta
Gene
GMPPB
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids.By similarity
Catalytic activityi
- EC:2.7.7.13By similarity
: GDP-alpha-D-mannose biosynthesis Pathwayi
This protein is involved in step 1 of the subpathway that synthesizes GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route).By similarityProteins known to be involved in this subpathway in this organism are:
- Mannose-1-phosphate guanyltransferase beta (GMPPB)
View all proteins of this organism that are known to be involved in the subpathway that synthesizes GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route), the pathway GDP-alpha-D-mannose biosynthesis and in Nucleotide-sugar biosynthesis.
GO - Molecular functioni
- GTP binding Source: UniProtKB-KW
- mannose-1-phosphate guanylyltransferase activity Source: UniProtKB-EC
GO - Biological processi
- GDP-mannose biosynthetic process Source: UniProtKB
Keywordsi
Molecular function | Nucleotidyltransferase, Transferase |
Ligand | GTP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9Y5P6 |
Reactomei | R-HSA-446205, Synthesis of GDP-mannose |
UniPathwayi | UPA00126;UER00930 |
Names & Taxonomyi
Protein namesi | Recommended name: Mannose-1-phosphate guanyltransferase beta (EC:2.7.7.13By similarity)Alternative name(s): GDP-mannose pyrophosphorylase B GTP-mannose-1-phosphate guanylyltransferase beta |
Gene namesi | Name:GMPPBImported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:22932, GMPPB |
MIMi | 615320, gene |
neXtProti | NX_Q9Y5P6 |
VEuPathDBi | HostDB:ENSG00000173540.12 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound mental retardation. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070148 | 334 | D → N in MDDGA14; causes protein aggregation. 1 PublicationCorresponds to variant dbSNP:rs397509422EnsemblClinVar. | 1 |
Muscular dystrophy-dystroglycanopathy congenital with mental retardation B14 (MDDGB14)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070144 | 32 | P → L in MDDGB14; causes protein aggregation. 1 PublicationCorresponds to variant dbSNP:rs397509426EnsemblClinVar. | 1 | |
Natural variantiVAR_070145 | 185 | R → C in MDDGB14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs397509425EnsemblClinVar. | 1 | |
Natural variantiVAR_070146 | 287 | R → Q in MDDGB14 and MDDGC14. 2 PublicationsCorresponds to variant dbSNP:rs202160208EnsemblClinVar. | 1 |
Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070142 | 22 | P → S in MDDGC14; causes protein aggregation. 3 PublicationsCorresponds to variant dbSNP:rs397509424EnsemblClinVar. | 1 | |
Natural variantiVAR_070143 | 27 | D → H in MDDGC14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs142336618EnsemblClinVar. | 1 | |
Natural variantiVAR_079761 | 32 | P → S in MDDGC14. 1 Publication | 1 | |
Natural variantiVAR_079762 | 132 | S → C in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs145535498EnsemblClinVar. | 1 | |
Natural variantiVAR_079763 | 219 | I → T in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs761714818EnsemblClinVar. | 1 | |
Natural variantiVAR_079764 | 241 | P → S in MDDGC14. 1 Publication | 1 | |
Natural variantiVAR_079765 | 254 | V → M in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs875989850EnsemblClinVar. | 1 | |
Natural variantiVAR_070146 | 287 | R → Q in MDDGB14 and MDDGC14. 2 PublicationsCorresponds to variant dbSNP:rs202160208EnsemblClinVar. | 1 | |
Natural variantiVAR_079766 | 287 | R → W in MDDGC14. 2 PublicationsCorresponds to variant dbSNP:rs142908436EnsemblClinVar. | 1 | |
Natural variantiVAR_079767 | 293 | R → W in MDDGC14; slight reduction in protein abundance. 1 PublicationCorresponds to variant dbSNP:rs756682220EnsemblClinVar. | 1 | |
Natural variantiVAR_079768 | 318 | V → A in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs559784211EnsemblClinVar. | 1 | |
Natural variantiVAR_079769 | 322 | N → K in MDDGC14; no change in protein abundance. 1 PublicationCorresponds to variant dbSNP:rs781114909Ensembl. | 1 | |
Natural variantiVAR_070147 | 330 | V → I in MDDGC14; causes protein aggregation. 2 PublicationsCorresponds to variant dbSNP:rs199922550EnsemblClinVar. | 1 | |
Natural variantiVAR_079770 | 340 | G → R in MDDGC14; slight reduction in protein abundance; shows an increased propensity to form punctate aggregates. 1 PublicationCorresponds to variant dbSNP:rs1064796834EnsemblClinVar. | 1 | |
Natural variantiVAR_079771 | 357 | R → H in MDDGC14; no change in protein abundance; shows an increased propensity to form punctate aggregates. 1 PublicationCorresponds to variant dbSNP:rs771861177EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital muscular dystrophy, Disease variant, Dystroglycanopathy, Limb-girdle muscular dystrophyOrganism-specific databases
DisGeNETi | 29925 |
GeneReviewsi | GMPPB |
MalaCardsi | GMPPB |
MIMi | 615350, phenotype 615351, phenotype 615352, phenotype |
OpenTargetsi | ENSG00000173540 |
Orphaneti | 370959, Congenital muscular dystrophy with cerebellar involvement 370968, Congenital muscular dystrophy with intellectual disability 353327, Congenital myasthenic syndromes with glycosylation defect 363623, GMPPB-related limb-girdle muscular dystrophy R19 588, Muscle-eye-brain disease |
PharmGKBi | PA134875590 |
Miscellaneous databases
Pharosi | Q9Y5P6, Tbio |
Genetic variation databases
BioMutai | GMPPB |
DMDMi | 160013885 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000307162 | 1 – 360 | Mannose-1-phosphate guanyltransferase betaAdd BLAST | 360 |
Proteomic databases
EPDi | Q9Y5P6 |
jPOSTi | Q9Y5P6 |
MassIVEi | Q9Y5P6 |
PeptideAtlasi | Q9Y5P6 |
PRIDEi | Q9Y5P6 |
ProteomicsDBi | 86466 [Q9Y5P6-1] 86467 [Q9Y5P6-2] |
PTM databases
iPTMneti | Q9Y5P6 |
MetOSitei | Q9Y5P6 |
PhosphoSitePlusi | Q9Y5P6 |
Expressioni
Gene expression databases
Bgeei | ENSG00000173540, Expressed in stomach and 145 other tissues |
ExpressionAtlasi | Q9Y5P6, baseline and differential |
Genevisiblei | Q9Y5P6, HS |
Organism-specific databases
HPAi | ENSG00000173540, Low tissue specificity |
Interactioni
Subunit structurei
Associates with GMPPA.
By similarityBinary interactionsi
Hide detailsQ9Y5P6
Protein-protein interaction databases
BioGRIDi | 118966, 46 interactors |
IntActi | Q9Y5P6, 12 interactors |
STRINGi | 9606.ENSP00000309092 |
Miscellaneous databases
RNActi | Q9Y5P6, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the transferase hexapeptide repeat family.Curated
Phylogenomic databases
eggNOGi | KOG1322, Eukaryota |
GeneTreei | ENSGT00940000158909 |
HOGENOMi | CLU_029499_0_0_1 |
InParanoidi | Q9Y5P6 |
OMAi | PFLTHQL |
OrthoDBi | 806744at2759 |
PhylomeDBi | Q9Y5P6 |
TreeFami | TF300718 |
Family and domain databases
Gene3Di | 3.90.550.10, 1 hit |
InterProi | View protein in InterPro IPR001451, Hexapep IPR018357, Hexapep_transf_CS IPR005835, NTP_transferase_dom IPR029044, Nucleotide-diphossugar_trans |
Pfami | View protein in Pfam PF00132, Hexapep, 1 hit PF00483, NTP_transferase, 1 hit |
SUPFAMi | SSF53448, SSF53448, 1 hit |
PROSITEi | View protein in PROSITE PS00101, HEXAPEP_TRANSFERASES, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9Y5P6-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKALILVGGY GTRLRPLTLS TPKPLVDFCN KPILLHQVEA LAAAGVDHVI
60 70 80 90 100
LAVSYMSQVL EKEMKAQEQR LGIRISMSHE EEPLGTAGPL ALARDLLSET
110 120 130 140 150
ADPFFVLNSD VICDFPFQAM VQFHRHHGQE GSILVTKVEE PSKYGVVVCE
160 170 180 190 200
ADTGRIHRFV EKPQVFVSNK INAGMYILSP AVLQRIQLQP TSIEKEVFPI
210 220 230 240 250
MAKEGQLYAM ELQGFWMDIG QPKDFLTGMC LFLQSLRQKQ PERLCSGPGI
260 270 280 290 300
VGNVLVDPSA RIGQNCSIGP NVSLGPGVVV EDGVCIRRCT VLRDARIRSH
310 320 330 340 350
SWLESCIVGW RCRVGQWVRM ENVTVLGEDV IVNDELYLNG ASVLPHKSIG
360
ESVPEPRIIM
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A7I2V2Y5 | A0A7I2V2Y5_HUMAN | Mannose-1-phosphate guanyltransfera... | GMPPB | 238 | Annotation score: | ||
A0A7I2V4B5 | A0A7I2V4B5_HUMAN | Mannose-1-phosphate guanyltransfera... | GMPPB | 255 | Annotation score: | ||
A0A7I2V691 | A0A7I2V691_HUMAN | Mannose-1-phosphate guanyltransfera... | GMPPB | 156 | Annotation score: | ||
A0A7I2YQI5 | A0A7I2YQI5_HUMAN | Mannose-1-phosphate guanyltransfera... | GMPPB | 396 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070142 | 22 | P → S in MDDGC14; causes protein aggregation. 3 PublicationsCorresponds to variant dbSNP:rs397509424EnsemblClinVar. | 1 | |
Natural variantiVAR_070143 | 27 | D → H in MDDGC14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs142336618EnsemblClinVar. | 1 | |
Natural variantiVAR_070144 | 32 | P → L in MDDGB14; causes protein aggregation. 1 PublicationCorresponds to variant dbSNP:rs397509426EnsemblClinVar. | 1 | |
Natural variantiVAR_079761 | 32 | P → S in MDDGC14. 1 Publication | 1 | |
Natural variantiVAR_035372 | 126 | H → D. Corresponds to variant dbSNP:rs34345884EnsemblClinVar. | 1 | |
Natural variantiVAR_079762 | 132 | S → C in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs145535498EnsemblClinVar. | 1 | |
Natural variantiVAR_035373 | 184 | Q → R3 PublicationsCorresponds to variant dbSNP:rs1466685Ensembl. | 1 | |
Natural variantiVAR_070145 | 185 | R → C in MDDGB14; the protein remains distributed in the cytoplasm and has no discernable changes compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs397509425EnsemblClinVar. | 1 | |
Natural variantiVAR_079763 | 219 | I → T in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs761714818EnsemblClinVar. | 1 | |
Natural variantiVAR_079764 | 241 | P → S in MDDGC14. 1 Publication | 1 | |
Natural variantiVAR_079765 | 254 | V → M in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs875989850EnsemblClinVar. | 1 | |
Natural variantiVAR_070146 | 287 | R → Q in MDDGB14 and MDDGC14. 2 PublicationsCorresponds to variant dbSNP:rs202160208EnsemblClinVar. | 1 | |
Natural variantiVAR_079766 | 287 | R → W in MDDGC14. 2 PublicationsCorresponds to variant dbSNP:rs142908436EnsemblClinVar. | 1 | |
Natural variantiVAR_079767 | 293 | R → W in MDDGC14; slight reduction in protein abundance. 1 PublicationCorresponds to variant dbSNP:rs756682220EnsemblClinVar. | 1 | |
Natural variantiVAR_079768 | 318 | V → A in MDDGC14. 1 PublicationCorresponds to variant dbSNP:rs559784211EnsemblClinVar. | 1 | |
Natural variantiVAR_079769 | 322 | N → K in MDDGC14; no change in protein abundance. 1 PublicationCorresponds to variant dbSNP:rs781114909Ensembl. | 1 | |
Natural variantiVAR_070147 | 330 | V → I in MDDGC14; causes protein aggregation. 2 PublicationsCorresponds to variant dbSNP:rs199922550EnsemblClinVar. | 1 | |
Natural variantiVAR_070148 | 334 | D → N in MDDGA14; causes protein aggregation. 1 PublicationCorresponds to variant dbSNP:rs397509422EnsemblClinVar. | 1 | |
Natural variantiVAR_079770 | 340 | G → R in MDDGC14; slight reduction in protein abundance; shows an increased propensity to form punctate aggregates. 1 PublicationCorresponds to variant dbSNP:rs1064796834EnsemblClinVar. | 1 | |
Natural variantiVAR_079771 | 357 | R → H in MDDGC14; no change in protein abundance; shows an increased propensity to form punctate aggregates. 1 PublicationCorresponds to variant dbSNP:rs771861177EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_028619 | 317 | W → WVSLWAGLGGERGGECACLP DKAYPLLE in isoform 2. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF135421 mRNA Translation: AAD38516.1 AK024319 mRNA Translation: BAB14882.1 AK291700 mRNA Translation: BAF84389.1 AC099668 Genomic DNA No translation available. BC001141 mRNA Translation: AAH01141.1 BC008033 mRNA Translation: AAH08033.1 |
CCDSi | CCDS2802.1 [Q9Y5P6-2] CCDS2803.1 [Q9Y5P6-1] |
RefSeqi | NP_037466.2, NM_013334.3 [Q9Y5P6-2] NP_068806.1, NM_021971.2 [Q9Y5P6-1] |
Genome annotation databases
Ensembli | ENST00000308375; ENSP00000309092; ENSG00000173540 [Q9Y5P6-2] ENST00000308388; ENSP00000311130; ENSG00000173540 [Q9Y5P6-1] ENST00000480687; ENSP00000418565; ENSG00000173540 [Q9Y5P6-1] |
GeneIDi | 29925 |
KEGGi | hsa:29925 |
UCSCi | uc003cxk.3, human [Q9Y5P6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF135421 mRNA Translation: AAD38516.1 AK024319 mRNA Translation: BAB14882.1 AK291700 mRNA Translation: BAF84389.1 AC099668 Genomic DNA No translation available. BC001141 mRNA Translation: AAH01141.1 BC008033 mRNA Translation: AAH08033.1 |
CCDSi | CCDS2802.1 [Q9Y5P6-2] CCDS2803.1 [Q9Y5P6-1] |
RefSeqi | NP_037466.2, NM_013334.3 [Q9Y5P6-2] NP_068806.1, NM_021971.2 [Q9Y5P6-1] |
3D structure databases
SMRi | Q9Y5P6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 118966, 46 interactors |
IntActi | Q9Y5P6, 12 interactors |
STRINGi | 9606.ENSP00000309092 |
PTM databases
iPTMneti | Q9Y5P6 |
MetOSitei | Q9Y5P6 |
PhosphoSitePlusi | Q9Y5P6 |
Genetic variation databases
BioMutai | GMPPB |
DMDMi | 160013885 |
Proteomic databases
EPDi | Q9Y5P6 |
jPOSTi | Q9Y5P6 |
MassIVEi | Q9Y5P6 |
PeptideAtlasi | Q9Y5P6 |
PRIDEi | Q9Y5P6 |
ProteomicsDBi | 86466 [Q9Y5P6-1] 86467 [Q9Y5P6-2] |
Protocols and materials databases
Antibodypediai | 1597, 164 antibodies |
Genome annotation databases
Ensembli | ENST00000308375; ENSP00000309092; ENSG00000173540 [Q9Y5P6-2] ENST00000308388; ENSP00000311130; ENSG00000173540 [Q9Y5P6-1] ENST00000480687; ENSP00000418565; ENSG00000173540 [Q9Y5P6-1] |
GeneIDi | 29925 |
KEGGi | hsa:29925 |
UCSCi | uc003cxk.3, human [Q9Y5P6-1] |
Organism-specific databases
CTDi | 29925 |
DisGeNETi | 29925 |
GeneCardsi | GMPPB |
GeneReviewsi | GMPPB |
HGNCi | HGNC:22932, GMPPB |
HPAi | ENSG00000173540, Low tissue specificity |
MalaCardsi | GMPPB |
MIMi | 615320, gene 615350, phenotype 615351, phenotype 615352, phenotype |
neXtProti | NX_Q9Y5P6 |
OpenTargetsi | ENSG00000173540 |
Orphaneti | 370959, Congenital muscular dystrophy with cerebellar involvement 370968, Congenital muscular dystrophy with intellectual disability 353327, Congenital myasthenic syndromes with glycosylation defect 363623, GMPPB-related limb-girdle muscular dystrophy R19 588, Muscle-eye-brain disease |
PharmGKBi | PA134875590 |
VEuPathDBi | HostDB:ENSG00000173540.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1322, Eukaryota |
GeneTreei | ENSGT00940000158909 |
HOGENOMi | CLU_029499_0_0_1 |
InParanoidi | Q9Y5P6 |
OMAi | PFLTHQL |
OrthoDBi | 806744at2759 |
PhylomeDBi | Q9Y5P6 |
TreeFami | TF300718 |
Enzyme and pathway databases
UniPathwayi | UPA00126;UER00930 |
PathwayCommonsi | Q9Y5P6 |
Reactomei | R-HSA-446205, Synthesis of GDP-mannose |
Miscellaneous databases
BioGRID-ORCSi | 29925, 675 hits in 1002 CRISPR screens |
ChiTaRSi | GMPPB, human |
GeneWikii | GMPPB |
GenomeRNAii | 29925 |
Pharosi | Q9Y5P6, Tbio |
PROi | PR:Q9Y5P6 |
RNActi | Q9Y5P6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000173540, Expressed in stomach and 145 other tissues |
ExpressionAtlasi | Q9Y5P6, baseline and differential |
Genevisiblei | Q9Y5P6, HS |
Family and domain databases
Gene3Di | 3.90.550.10, 1 hit |
InterProi | View protein in InterPro IPR001451, Hexapep IPR018357, Hexapep_transf_CS IPR005835, NTP_transferase_dom IPR029044, Nucleotide-diphossugar_trans |
Pfami | View protein in Pfam PF00132, Hexapep, 1 hit PF00483, NTP_transferase, 1 hit |
SUPFAMi | SSF53448, SSF53448, 1 hit |
PROSITEi | View protein in PROSITE PS00101, HEXAPEP_TRANSFERASES, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GMPPB_HUMAN | |
Accessioni | Q9Y5P6Primary (citable) accession number: Q9Y5P6 Secondary accession number(s): A8K6N5, Q9H7U3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 23, 2007 |
Last sequence update: | October 23, 2007 | |
Last modified: | April 7, 2021 | |
This is version 174 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families