UniProtKB - Q9Y5Z9 (UBIA1_HUMAN)
Protein
UbiA prenyltransferase domain-containing protein 1
Gene
UBIAD1
Organism
Homo sapiens (Human)
Status
Functioni
Prenyltransferase that mediates the formation of menaquinone-4 (MK-4) and coenzyme Q10. MK-4 is a vitamin K2 isoform present at high concentrations in the brain, kidney and pancreas, and is required for endothelial cell development. Mediates the conversion of phylloquinone (PK) into MK-4, probably by cleaving the side chain of phylloquinone (PK) to release 2-methyl-1,4-naphthoquinone (menadione; K3) and then prenylating it with geranylgeranyl pyrophosphate (GGPP) to form MK-4. Also plays a role in cardiovascular development independently of MK-4 biosynthesis, by acting as a coenzyme Q10 biosynthetic enzyme: coenzyme Q10, also named ubiquinone, plays an important antioxidant role in the cardiovascular system. Mediates biosynthesis of coenzyme Q10 in the Golgi membrane, leading to protect cardiovascular tissues from NOS3/eNOS-dependent oxidative stress.2 Publications
Miscellaneous
Strongly down-regulated in transitional cell carcinoma of the bladder and in prostate carcinoma (at protein level) (PubMed:11314041, PubMed:12497587).2 Publications
: menaquinone biosynthesis Pathwayi
This protein is involved in the pathway menaquinone biosynthesis, which is part of Quinol/quinone metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway menaquinone biosynthesis and in Quinol/quinone metabolism.
Pathwayi: ubiquinone biosynthesis
This protein is involved in the pathway ubiquinone biosynthesis, which is part of Cofactor biosynthesis.1 PublicationView all proteins of this organism that are known to be involved in the pathway ubiquinone biosynthesis and in Cofactor biosynthesis.
GO - Molecular functioni
- antioxidant activity Source: UniProtKB
- prenyltransferase activity Source: UniProtKB
GO - Biological processi
- menaquinone biosynthetic process Source: UniProtKB
- ubiquinone biosynthetic process Source: UniProtKB
- ubiquinone biosynthetic process via 3,4-dihydroxy-5-polyprenylbenzoate Source: GO_Central
- vitamin K biosynthetic process Source: UniProtKB
- vitamin K metabolic process Source: Reactome
Keywordsi
Molecular function | Prenyltransferase, Transferase |
Biological process | Menaquinone biosynthesis, Ubiquinone biosynthesis |
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000120942-MONOMER |
PathwayCommonsi | Q9Y5Z9 |
Reactomei | R-HSA-6806664, Metabolism of vitamin K |
SIGNORi | Q9Y5Z9 |
UniPathwayi | UPA00079 UPA00232 |
Names & Taxonomyi
Protein namesi | Recommended name: UbiA prenyltransferase domain-containing protein 1 (EC:2.5.1.-)Alternative name(s): Transitional epithelial response protein 1 |
Gene namesi | Name:UBIAD1 Synonyms:TERE1 |
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
EuPathDBi | HostDB:ENSG00000120942.13 |
HGNCi | HGNC:30791, UBIAD1 |
MIMi | 611632, gene |
neXtProti | NX_Q9Y5Z9 |
Subcellular locationi
Endoplasmic reticulum
Nucleus
Mitochondrion
Golgi apparatus
Other locations
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum membrane Source: Reactome
Golgi apparatus
- integral component of Golgi membrane Source: UniProtKB
Mitochondrion
- mitochondrial membrane Source: UniProtKB-SubCell
Nucleus
- nucleus Source: UniProtKB
Other locations
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 83 – 103 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 134 – 154 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 160 – 180 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 188 – 208 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 209 – 229 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 245 – 267 | HelicalSequence analysisAdd BLAST | 23 | |
Transmembranei | 277 – 297 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 315 – 335 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Membrane, Mitochondrion, NucleusPathology & Biotechi
Involvement in diseasei
Corneal dystrophy, Schnyder type (SCCD)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_064337 | 97 | A → T in SCCD. 1 Publication | 1 | |
Natural variantiVAR_064338 | 98 | G → S in SCCD. 1 Publication | 1 | |
Natural variantiVAR_043714 | 102 | N → S in SCCD; reduced menaquinone-4 (MK-4) synthesis; does not affect coenzyme Q10 synthesis. 6 PublicationsCorresponds to variant dbSNP:rs118203945EnsemblClinVar. | 1 | |
Natural variantiVAR_043715 | 112 | D → G in SCCD; does not affect coenzyme Q10 synthesis. 2 PublicationsCorresponds to variant dbSNP:rs118203950EnsemblClinVar. | 1 | |
Natural variantiVAR_064339 | 112 | D → N in SCCD; reduced menaquinone-4 (MK-4) synthesis. 2 Publications | 1 | |
Natural variantiVAR_043716 | 118 | D → G in SCCD. 1 Publication | 1 | |
Natural variantiVAR_043717 | 119 | R → G in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203947EnsemblClinVar. | 1 | |
Natural variantiVAR_043718 | 121 | L → F in SCCD. 1 Publication | 1 | |
Natural variantiVAR_064340 | 122 | V → E in SCCD. 1 Publication | 1 | |
Natural variantiVAR_064341 | 122 | V → G in SCCD. 1 Publication | 1 | |
Natural variantiVAR_043719 | 171 | S → P in SCCD. 2 PublicationsCorresponds to variant dbSNP:rs118203951EnsemblClinVar. | 1 | |
Natural variantiVAR_043720 | 175 | T → I in SCCD. 2 PublicationsCorresponds to variant dbSNP:rs118203948EnsemblClinVar. | 1 | |
Natural variantiVAR_069267 | 177 | G → E in SCCD; reduced menaquinone-4 (MK-4) synthesis. 1 PublicationCorresponds to variant dbSNP:rs397514669Ensembl. | 1 | |
Natural variantiVAR_043721 | 177 | G → R in SCCD; reduced menaquinone-4 (MK-4) synthesis. 3 PublicationsCorresponds to variant dbSNP:rs118203946EnsemblClinVar. | 1 | |
Natural variantiVAR_043722 | 186 | G → R in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203952Ensembl. | 1 | |
Natural variantiVAR_064342 | 188 | L → H in SCCD. 1 Publication | 1 | |
Natural variantiVAR_043723 | 232 | N → S in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203949Ensembl. | 1 | |
Natural variantiVAR_043724 | 236 | D → E in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203953Ensembl. | 1 | |
Natural variantiVAR_064343 | 240 | D → N in SCCD. 1 PublicationCorresponds to variant dbSNP:rs371811409Ensembl. | 1 |
Keywords - Diseasei
Corneal dystrophy, Disease mutationOrganism-specific databases
DisGeNETi | 29914 |
MalaCardsi | UBIAD1 |
MIMi | 121800, phenotype |
OpenTargetsi | ENSG00000120942 |
Orphaneti | 98967, Schnyder corneal dystrophy |
PharmGKBi | PA142670660 |
Miscellaneous databases
Pharosi | Q9Y5Z9, Tbio |
Polymorphism and mutation databases
BioMutai | UBIAD1 |
DMDMi | 74753514 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000242627 | 2 – 338 | UbiA prenyltransferase domain-containing protein 1Add BLAST | 337 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q9Y5Z9 |
jPOSTi | Q9Y5Z9 |
MassIVEi | Q9Y5Z9 |
PaxDbi | Q9Y5Z9 |
PeptideAtlasi | Q9Y5Z9 |
PRIDEi | Q9Y5Z9 |
ProteomicsDBi | 86555 [Q9Y5Z9-1] 86556 [Q9Y5Z9-2] |
PTM databases
iPTMneti | Q9Y5Z9 |
PhosphoSitePlusi | Q9Y5Z9 |
SwissPalmi | Q9Y5Z9 |
Expressioni
Tissue specificityi
Ubiquitously expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000120942, Expressed in zone of skin and 211 other tissues |
ExpressionAtlasi | Q9Y5Z9, baseline and differential |
Genevisiblei | Q9Y5Z9, HS |
Organism-specific databases
HPAi | ENSG00000120942, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with HMGCR and SOAT1.
1 PublicationBinary interactionsi
Hide detailsQ9Y5Z9
Isoform 1 [Q9Y5Z9-1]
With | #Exp. | IntAct |
---|---|---|
HMGCR [P04035] | 5 | EBI-6621921,EBI-465513 |
Protein-protein interaction databases
BioGRIDi | 118958, 56 interactors |
IntActi | Q9Y5Z9, 53 interactors |
MINTi | Q9Y5Z9 |
STRINGi | 9606.ENSP00000366006 |
Miscellaneous databases
RNActi | Q9Y5Z9, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the UbiA prenyltransferase family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4581, Eukaryota |
GeneTreei | ENSGT00390000012439 |
HOGENOMi | CLU_043611_0_0_1 |
InParanoidi | Q9Y5Z9 |
OMAi | PMAFPLE |
OrthoDBi | 1146311at2759 |
PhylomeDBi | Q9Y5Z9 |
TreeFami | TF323238 |
Family and domain databases
InterProi | View protein in InterPro IPR000537, UbiA_prenyltransferase IPR026046, UBIAD1 |
Pfami | View protein in Pfam PF01040, UbiA, 1 hit |
PIRSFi | PIRSF005355, UBIAD1, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9Y5Z9-1) [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
MAASQVLGEK INILSGETVK AGDRDPLGND CPEQDRLPQR SWRQKCASYV
60 70 80 90 100
LALRPWSFSA SLTPVALGSA LAYRSHGVLD PRLLVGCAVA VLAVHGAGNL
110 120 130 140 150
VNTYYDFSKG IDHKKSDDRT LVDRILEPQD VVRFGVFLYT LGCVCAACLY
160 170 180 190 200
YLSPLKLEHL ALIYFGGLSG SFLYTGGIGF KYVALGDLII LITFGPLAVM
210 220 230 240 250
FAYAIQVGSL AIFPLVYAIP LALSTEAILH SNNTRDMESD REAGIVTLAI
260 270 280 290 300
LIGPTFSYIL YNTLLFLPYL VFSILATHCT ISLALPLLTI PMAFSLERQF
310 320 330
RSQAFNKLPQ RTAKLNLLLG LFYVFGIILA PAGSLPKI
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketR4GNE3 | R4GNE3_HUMAN | UbiA prenyltransferase domain-conta... | UBIAD1 | 118 | Annotation score: | ||
R4GN21 | R4GN21_HUMAN | UbiA prenyltransferase domain-conta... | UBIAD1 | 77 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 163 | I → V in BAD96528 (Ref. 3) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043713 | 75 | S → F1 PublicationCorresponds to variant dbSNP:rs114000606EnsemblClinVar. | 1 | |
Natural variantiVAR_064337 | 97 | A → T in SCCD. 1 Publication | 1 | |
Natural variantiVAR_064338 | 98 | G → S in SCCD. 1 Publication | 1 | |
Natural variantiVAR_043714 | 102 | N → S in SCCD; reduced menaquinone-4 (MK-4) synthesis; does not affect coenzyme Q10 synthesis. 6 PublicationsCorresponds to variant dbSNP:rs118203945EnsemblClinVar. | 1 | |
Natural variantiVAR_043715 | 112 | D → G in SCCD; does not affect coenzyme Q10 synthesis. 2 PublicationsCorresponds to variant dbSNP:rs118203950EnsemblClinVar. | 1 | |
Natural variantiVAR_064339 | 112 | D → N in SCCD; reduced menaquinone-4 (MK-4) synthesis. 2 Publications | 1 | |
Natural variantiVAR_043716 | 118 | D → G in SCCD. 1 Publication | 1 | |
Natural variantiVAR_043717 | 119 | R → G in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203947EnsemblClinVar. | 1 | |
Natural variantiVAR_043718 | 121 | L → F in SCCD. 1 Publication | 1 | |
Natural variantiVAR_064340 | 122 | V → E in SCCD. 1 Publication | 1 | |
Natural variantiVAR_064341 | 122 | V → G in SCCD. 1 Publication | 1 | |
Natural variantiVAR_043719 | 171 | S → P in SCCD. 2 PublicationsCorresponds to variant dbSNP:rs118203951EnsemblClinVar. | 1 | |
Natural variantiVAR_043720 | 175 | T → I in SCCD. 2 PublicationsCorresponds to variant dbSNP:rs118203948EnsemblClinVar. | 1 | |
Natural variantiVAR_069267 | 177 | G → E in SCCD; reduced menaquinone-4 (MK-4) synthesis. 1 PublicationCorresponds to variant dbSNP:rs397514669Ensembl. | 1 | |
Natural variantiVAR_043721 | 177 | G → R in SCCD; reduced menaquinone-4 (MK-4) synthesis. 3 PublicationsCorresponds to variant dbSNP:rs118203946EnsemblClinVar. | 1 | |
Natural variantiVAR_043722 | 186 | G → R in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203952Ensembl. | 1 | |
Natural variantiVAR_064342 | 188 | L → H in SCCD. 1 Publication | 1 | |
Natural variantiVAR_043723 | 232 | N → S in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203949Ensembl. | 1 | |
Natural variantiVAR_043724 | 236 | D → E in SCCD. 1 PublicationCorresponds to variant dbSNP:rs118203953Ensembl. | 1 | |
Natural variantiVAR_064343 | 240 | D → N in SCCD. 1 PublicationCorresponds to variant dbSNP:rs371811409Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_019455 | 177 – 179 | GIG → VLI in isoform 2. Curated | 3 | |
Alternative sequenceiVSP_019456 | 180 – 338 | Missing in isoform 2. CuratedAdd BLAST | 159 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF117064 mRNA Translation: AAD27581.1 BT006832 mRNA Translation: AAP35478.1 AK222808 mRNA Translation: BAD96528.1 AK074890 mRNA Translation: BAG52025.1 AL031291 Genomic DNA No translation available. CH471130 Genomic DNA Translation: EAW71686.1 BC004468 mRNA Translation: AAH04468.1 |
CCDSi | CCDS129.1 [Q9Y5Z9-1] CCDS81260.1 [Q9Y5Z9-2] |
RefSeqi | NP_001317279.1, NM_001330350.1 [Q9Y5Z9-2] NP_037451.1, NM_013319.2 [Q9Y5Z9-1] |
Genome annotation databases
Ensembli | ENST00000376804; ENSP00000366000; ENSG00000120942 [Q9Y5Z9-2] ENST00000376810; ENSP00000366006; ENSG00000120942 [Q9Y5Z9-1] |
GeneIDi | 29914 |
KEGGi | hsa:29914 |
UCSCi | uc001asg.4, human [Q9Y5Z9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF117064 mRNA Translation: AAD27581.1 BT006832 mRNA Translation: AAP35478.1 AK222808 mRNA Translation: BAD96528.1 AK074890 mRNA Translation: BAG52025.1 AL031291 Genomic DNA No translation available. CH471130 Genomic DNA Translation: EAW71686.1 BC004468 mRNA Translation: AAH04468.1 |
CCDSi | CCDS129.1 [Q9Y5Z9-1] CCDS81260.1 [Q9Y5Z9-2] |
RefSeqi | NP_001317279.1, NM_001330350.1 [Q9Y5Z9-2] NP_037451.1, NM_013319.2 [Q9Y5Z9-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 118958, 56 interactors |
IntActi | Q9Y5Z9, 53 interactors |
MINTi | Q9Y5Z9 |
STRINGi | 9606.ENSP00000366006 |
PTM databases
iPTMneti | Q9Y5Z9 |
PhosphoSitePlusi | Q9Y5Z9 |
SwissPalmi | Q9Y5Z9 |
Polymorphism and mutation databases
BioMutai | UBIAD1 |
DMDMi | 74753514 |
Proteomic databases
EPDi | Q9Y5Z9 |
jPOSTi | Q9Y5Z9 |
MassIVEi | Q9Y5Z9 |
PaxDbi | Q9Y5Z9 |
PeptideAtlasi | Q9Y5Z9 |
PRIDEi | Q9Y5Z9 |
ProteomicsDBi | 86555 [Q9Y5Z9-1] 86556 [Q9Y5Z9-2] |
Protocols and materials databases
Antibodypediai | 13750, 108 antibodies |
DNASUi | 29914 |
Genome annotation databases
Ensembli | ENST00000376804; ENSP00000366000; ENSG00000120942 [Q9Y5Z9-2] ENST00000376810; ENSP00000366006; ENSG00000120942 [Q9Y5Z9-1] |
GeneIDi | 29914 |
KEGGi | hsa:29914 |
UCSCi | uc001asg.4, human [Q9Y5Z9-1] |
Organism-specific databases
CTDi | 29914 |
DisGeNETi | 29914 |
EuPathDBi | HostDB:ENSG00000120942.13 |
GeneCardsi | UBIAD1 |
HGNCi | HGNC:30791, UBIAD1 |
HPAi | ENSG00000120942, Low tissue specificity |
MalaCardsi | UBIAD1 |
MIMi | 121800, phenotype 611632, gene |
neXtProti | NX_Q9Y5Z9 |
OpenTargetsi | ENSG00000120942 |
Orphaneti | 98967, Schnyder corneal dystrophy |
PharmGKBi | PA142670660 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4581, Eukaryota |
GeneTreei | ENSGT00390000012439 |
HOGENOMi | CLU_043611_0_0_1 |
InParanoidi | Q9Y5Z9 |
OMAi | PMAFPLE |
OrthoDBi | 1146311at2759 |
PhylomeDBi | Q9Y5Z9 |
TreeFami | TF323238 |
Enzyme and pathway databases
UniPathwayi | UPA00079 UPA00232 |
BioCyci | MetaCyc:ENSG00000120942-MONOMER |
PathwayCommonsi | Q9Y5Z9 |
Reactomei | R-HSA-6806664, Metabolism of vitamin K |
SIGNORi | Q9Y5Z9 |
Miscellaneous databases
BioGRID-ORCSi | 29914, 167 hits in 851 CRISPR screens |
ChiTaRSi | UBIAD1, human |
GeneWikii | UBIAD1 |
GenomeRNAii | 29914 |
Pharosi | Q9Y5Z9, Tbio |
PROi | PR:Q9Y5Z9 |
RNActi | Q9Y5Z9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000120942, Expressed in zone of skin and 211 other tissues |
ExpressionAtlasi | Q9Y5Z9, baseline and differential |
Genevisiblei | Q9Y5Z9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000537, UbiA_prenyltransferase IPR026046, UBIAD1 |
Pfami | View protein in Pfam PF01040, UbiA, 1 hit |
PIRSFi | PIRSF005355, UBIAD1, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | UBIA1_HUMAN | |
Accessioni | Q9Y5Z9Primary (citable) accession number: Q9Y5Z9 Secondary accession number(s): B3KQG3, Q53GX3, Q5THD4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 27, 2006 |
Last sequence update: | November 1, 1999 | |
Last modified: | December 2, 2020 | |
This is version 154 of the entry and version 1 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 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 - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations