UniProtKB - P15313 (VATB1_HUMAN)
V-type proton ATPase subunit B, kidney isoform
ATP6V1B1
Functioni
Non-catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:16769747).
V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091).
Essential for the proper assembly and activity of V-ATPase (PubMed:16769747).
In renal intercalated cells, mediates secretion of protons (H+) into the urine thereby ensuring correct urinary acidification (PubMed:16769747).
Required for optimal olfactory function by mediating the acidification of the nasal olfactory epithelium (By similarity).
1 PublicationBy similarity1 PublicationSites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 394 | ATP; non-catalytic siteBy similarity | 1 |
GO - Molecular functioni
- ATP binding Source: InterPro
- hydrolase activity Source: UniProtKB-KW
- protein-containing complex binding Source: Ensembl
- proton transmembrane transporter activity Source: UniProtKB
GO - Biological processi
- adult behavior Source: Ensembl
- ATP metabolic process Source: Ensembl
- calcium ion homeostasis Source: UniProtKB
- chloride ion homeostasis Source: Ensembl
- excretion Source: UniProtKB
- inner ear morphogenesis Source: UniProtKB
- olfactory behavior Source: Ensembl
- ossification Source: HGNC-UCL
- pH reduction Source: UniProtKB
- potassium ion homeostasis Source: Ensembl
- prostaglandin metabolic process Source: Ensembl
- proton transmembrane transport Source: UniProtKB
- regulation of gene expression Source: Ensembl
- regulation of macroautophagy Source: ParkinsonsUK-UCL
- regulation of pH Source: HGNC-UCL
- renal sodium excretion Source: Ensembl
- renal sodium ion transport Source: Ensembl
- renal water homeostasis Source: Ensembl
- sensory perception of sound Source: UniProtKB
- vacuolar proton-transporting V-type ATPase complex assembly Source: UniProtKB
Keywordsi
Biological process | Hydrogen ion transport, Ion transport, Transport |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | P15313 |
Reactomei | R-HSA-1222556, ROS and RNS production in phagocytes R-HSA-77387, Insulin receptor recycling R-HSA-917977, Transferrin endocytosis and recycling R-HSA-9639288, Amino acids regulate mTORC1 R-HSA-983712, Ion channel transport |
SignaLinki | P15313 |
Protein family/group databases
TCDBi | 3.A.2.2.4, the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: V-type proton ATPase subunit B, kidney isoformShort name: V-ATPase subunit B 1 Alternative name(s): Endomembrane proton pump 58 kDa subunit Vacuolar proton pump subunit B 1 |
Gene namesi | Name:ATP6V1B1 Synonyms:ATP6B1, VATB, VPP3 |
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:853, ATP6V1B1 |
MIMi | 192132, gene |
neXtProti | NX_P15313 |
VEuPathDBi | HostDB:ENSG00000116039 |
Subcellular locationi
Plasma membrane
- Apical cell membrane 2 Publications
- Basolateral cell membrane By similarity
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Plasma Membrane
- apical plasma membrane Source: UniProtKB
- basolateral plasma membrane Source: UniProtKB
- lateral plasma membrane Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- extrinsic component of synaptic vesicle membrane Source: Ensembl
- microvillus Source: UniProtKB
- vacuolar proton-transporting V-type ATPase complex Source: HGNC-UCL
- vacuolar proton-transporting V-type ATPase, V1 domain Source: UniProtKB
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (DRTA2)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_085740 | 31 – 513 | Missing in DRTA2. 1 PublicationCorresponds to variant dbSNP:rs121964879Add BLAST | 483 | |
Natural variantiVAR_007866 | 81 | L → P in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 4 PublicationsCorresponds to variant dbSNP:rs121964880EnsemblClinVar. | 1 | |
Natural variantiVAR_021012 | 123 | G → V in DRTA2. 1 PublicationCorresponds to variant dbSNP:rs1343871627Ensembl. | 1 | |
Natural variantiVAR_007867 | 124 | R → W in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 2 PublicationsCorresponds to variant dbSNP:rs727505222EnsemblClinVar. | 1 | |
Natural variantiVAR_021013 | 157 | R → C in DRTA2. 1 PublicationCorresponds to variant dbSNP:rs782500780EnsemblClinVar. | 1 | |
Natural variantiVAR_007868 | 174 | M → R in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 2 Publications | 1 | |
Natural variantiVAR_007869 | 275 | T → P in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 3 PublicationsCorresponds to variant dbSNP:rs1161604514Ensembl. | 1 | |
Natural variantiVAR_007870 | 316 | G → E in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 2 PublicationsCorresponds to variant dbSNP:rs1553420413Ensembl. | 1 | |
Natural variantiVAR_007871 | 346 | P → R in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 4 PublicationsCorresponds to variant dbSNP:rs781838938EnsemblClinVar. | 1 | |
Natural variantiVAR_007872 | 364 | G → S in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 2 Publications | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 513 | L → G: Loss of interactions with SLC9A3R1 and SCL4A7. 1 Publication | 1 |
Keywords - Diseasei
Deafness, Disease variantOrganism-specific databases
DisGeNETi | 525 |
GeneReviewsi | ATP6V1B1 |
MalaCardsi | ATP6V1B1 |
MIMi | 267300, phenotype |
OpenTargetsi | ENSG00000116039 |
Orphaneti | 402041, Autosomal recessive distal renal tubular acidosis |
PharmGKBi | PA25154 |
Miscellaneous databases
Pharosi | P15313, Tchem |
Chemistry databases
ChEMBLi | CHEMBL3217 |
DrugBanki | DB01133, Tiludronic acid |
Genetic variation databases
BioMutai | ATP6V1B1 |
DMDMi | 215274116 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000144624 | 1 – 513 | V-type proton ATPase subunit B, kidney isoformAdd BLAST | 513 |
Proteomic databases
EPDi | P15313 |
jPOSTi | P15313 |
MassIVEi | P15313 |
MaxQBi | P15313 |
PaxDbi | P15313 |
PeptideAtlasi | P15313 |
PRIDEi | P15313 |
ProteomicsDBi | 53129 |
PTM databases
iPTMneti | P15313 |
MetOSitei | P15313 |
PhosphoSitePlusi | P15313 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000116039, Expressed in adult mammalian kidney and 124 other tissues |
ExpressionAtlasi | P15313, baseline and differential |
Genevisiblei | P15313, HS |
Organism-specific databases
HPAi | ENSG00000116039, Group enriched (kidney, salivary gland) |
Interactioni
Subunit structurei
V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex (By similarity). The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H (By similarity). The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR (By similarity).
Forms a complex with SLC9A3R1 and SCL4A7 (PubMed:12444018).
By similarity1 PublicationBinary interactionsi
P15313
Protein-protein interaction databases
BioGRIDi | 107008, 111 interactors |
IntActi | P15313, 37 interactors |
MINTi | P15313 |
STRINGi | 9606.ENSP00000234396 |
Chemistry databases
BindingDBi | P15313 |
Miscellaneous databases
RNActi | P15313, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 510 – 513 | PDZ-binding1 Publication | 4 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1351, Eukaryota |
GeneTreei | ENSGT00940000161413 |
HOGENOMi | CLU_022916_3_0_1 |
InParanoidi | P15313 |
OMAi | DYHEDNF |
OrthoDBi | 541116at2759 |
PhylomeDBi | P15313 |
TreeFami | TF300313 |
Family and domain databases
HAMAPi | MF_00310, ATP_synth_B_arch, 1 hit |
InterProi | View protein in InterPro IPR020003, ATPase_a/bsu_AS IPR004100, ATPase_F1/V1/A1_a/bsu_N IPR000194, ATPase_F1/V1/A1_a/bsu_nucl-bd IPR005723, ATPase_V1-cplx_bsu IPR027417, P-loop_NTPase IPR022879, V-ATPase_su_B/beta |
PANTHERi | PTHR43389, PTHR43389, 1 hit |
Pfami | View protein in Pfam PF00006, ATP-synt_ab, 1 hit PF02874, ATP-synt_ab_N, 1 hit |
PIRSFi | PIRSF039114, V-ATPsynth_beta/V-ATPase_B, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
TIGRFAMsi | TIGR01040, V-ATPase_V1_B, 1 hit |
PROSITEi | View protein in PROSITE PS00152, ATPASE_ALPHA_BETA, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MAMEIDSRPG GLPGSSCNLG AAREHMQAVT RNYITHPRVT YRTVCSVNGP
60 70 80 90 100
LVVLDRVKFA QYAEIVHFTL PDGTQRSGQV LEVAGTKAIV QVFEGTSGID
110 120 130 140 150
ARKTTCEFTG DILRTPVSED MLGRVFNGSG KPIDKGPVVM AEDFLDINGQ
160 170 180 190 200
PINPHSRIYP EEMIQTGISP IDVMNSIARG QKIPIFSAAG LPHNEIAAQI
210 220 230 240 250
CRQAGLVKKS KAVLDYHDDN FAIVFAAMGV NMETARFFKS DFEQNGTMGN
260 270 280 290 300
VCLFLNLAND PTIERIITPR LALTTAEFLA YQCEKHVLVI LTDMSSYAEA
310 320 330 340 350
LREVSAAREE VPGRRGFPGY MYTDLATIYE RAGRVEGRGG SITQIPILTM
360 370 380 390 400
PNDDITHPIP DLTGFITEGQ IYVDRQLHNR QIYPPINVLP SLSRLMKSAI
410 420 430 440 450
GEGMTRKDHG DVSNQLYACY AIGKDVQAMK AVVGEEALTS EDLLYLEFLQ
460 470 480 490 500
KFEKNFINQG PYENRSVFES LDLGWKLLRI FPKEMLKRIP QAVIDEFYSR
510
EGALQDLAPD TAL
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JL73 | C9JL73_HUMAN | Vacuolar proton pump subunit B | ATP6V1B1 | 496 | Annotation score: | ||
C9JNS9 | C9JNS9_HUMAN | V-type proton ATPase subunit B, kid... | ATP6V1B1 | 310 | Annotation score: | ||
C9JZ02 | C9JZ02_HUMAN | V-type proton ATPase subunit B, kid... | ATP6V1B1 | 157 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 467 | V → M in AAA36498 (PubMed:2527371).Curated | 1 | |
Sequence conflicti | 474 | G → S in AAA36498 (PubMed:2527371).Curated | 1 | |
Sequence conflicti | 503 | A → R in AAA36498 (PubMed:2527371).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021011 | 30 | T → I2 PublicationsCorresponds to variant dbSNP:rs17720303EnsemblClinVar. | 1 | |
Natural variantiVAR_085740 | 31 – 513 | Missing in DRTA2. 1 PublicationCorresponds to variant dbSNP:rs121964879Add BLAST | 483 | |
Natural variantiVAR_007866 | 81 | L → P in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 4 PublicationsCorresponds to variant dbSNP:rs121964880EnsemblClinVar. | 1 | |
Natural variantiVAR_021012 | 123 | G → V in DRTA2. 1 PublicationCorresponds to variant dbSNP:rs1343871627Ensembl. | 1 | |
Natural variantiVAR_007867 | 124 | R → W in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 2 PublicationsCorresponds to variant dbSNP:rs727505222EnsemblClinVar. | 1 | |
Natural variantiVAR_021013 | 157 | R → C in DRTA2. 1 PublicationCorresponds to variant dbSNP:rs782500780EnsemblClinVar. | 1 | |
Natural variantiVAR_021014 | 161 | E → K1 PublicationCorresponds to variant dbSNP:rs114234874EnsemblClinVar. | 1 | |
Natural variantiVAR_007868 | 174 | M → R in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 2 Publications | 1 | |
Natural variantiVAR_007869 | 275 | T → P in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 3 PublicationsCorresponds to variant dbSNP:rs1161604514Ensembl. | 1 | |
Natural variantiVAR_007870 | 316 | G → E in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 2 PublicationsCorresponds to variant dbSNP:rs1553420413Ensembl. | 1 | |
Natural variantiVAR_007871 | 346 | P → R in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 4 PublicationsCorresponds to variant dbSNP:rs781838938EnsemblClinVar. | 1 | |
Natural variantiVAR_007872 | 364 | G → S in DRTA2; disruption of V-ATPase assembly resulting in loss of enzyme activity; impaired trafficking of V-ATPase to apical cell membrane; impaired renal proton secretion. 2 Publications | 1 | |
Natural variantiVAR_021015 | 465 | R → H2 PublicationsCorresponds to variant dbSNP:rs142905621EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M25809 mRNA Translation: AAA36498.1 Different initiation. AK291121 mRNA Translation: BAF83810.1 AK313194 mRNA Translation: BAG36011.1 AK223151 mRNA Translation: BAD96871.1 CH471053 Genomic DNA Translation: EAW99790.1 BC063411 mRNA Translation: AAH63411.1 |
CCDSi | CCDS1912.1 |
PIRi | A33281 |
RefSeqi | NP_001683.2, NM_001692.3 |
Genome annotation databases
Ensembli | ENST00000234396; ENSP00000234396; ENSG00000116039 |
GeneIDi | 525 |
KEGGi | hsa:525 |
MANE-Selecti | ENST00000234396.10; ENSP00000234396.4; NM_001692.4; NP_001683.2 |
UCSCi | uc002shj.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M25809 mRNA Translation: AAA36498.1 Different initiation. AK291121 mRNA Translation: BAF83810.1 AK313194 mRNA Translation: BAG36011.1 AK223151 mRNA Translation: BAD96871.1 CH471053 Genomic DNA Translation: EAW99790.1 BC063411 mRNA Translation: AAH63411.1 |
CCDSi | CCDS1912.1 |
PIRi | A33281 |
RefSeqi | NP_001683.2, NM_001692.3 |
3D structure databases
SMRi | P15313 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107008, 111 interactors |
IntActi | P15313, 37 interactors |
MINTi | P15313 |
STRINGi | 9606.ENSP00000234396 |
Chemistry databases
BindingDBi | P15313 |
ChEMBLi | CHEMBL3217 |
DrugBanki | DB01133, Tiludronic acid |
Protein family/group databases
TCDBi | 3.A.2.2.4, the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily |
PTM databases
iPTMneti | P15313 |
MetOSitei | P15313 |
PhosphoSitePlusi | P15313 |
Genetic variation databases
BioMutai | ATP6V1B1 |
DMDMi | 215274116 |
Proteomic databases
EPDi | P15313 |
jPOSTi | P15313 |
MassIVEi | P15313 |
MaxQBi | P15313 |
PaxDbi | P15313 |
PeptideAtlasi | P15313 |
PRIDEi | P15313 |
ProteomicsDBi | 53129 |
Protocols and materials databases
Antibodypediai | 4020, 369 antibodies from 30 providers |
DNASUi | 525 |
Genome annotation databases
Ensembli | ENST00000234396; ENSP00000234396; ENSG00000116039 |
GeneIDi | 525 |
KEGGi | hsa:525 |
MANE-Selecti | ENST00000234396.10; ENSP00000234396.4; NM_001692.4; NP_001683.2 |
UCSCi | uc002shj.4, human |
Organism-specific databases
CTDi | 525 |
DisGeNETi | 525 |
GeneCardsi | ATP6V1B1 |
GeneReviewsi | ATP6V1B1 |
HGNCi | HGNC:853, ATP6V1B1 |
HPAi | ENSG00000116039, Group enriched (kidney, salivary gland) |
MalaCardsi | ATP6V1B1 |
MIMi | 192132, gene 267300, phenotype |
neXtProti | NX_P15313 |
OpenTargetsi | ENSG00000116039 |
Orphaneti | 402041, Autosomal recessive distal renal tubular acidosis |
PharmGKBi | PA25154 |
VEuPathDBi | HostDB:ENSG00000116039 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1351, Eukaryota |
GeneTreei | ENSGT00940000161413 |
HOGENOMi | CLU_022916_3_0_1 |
InParanoidi | P15313 |
OMAi | DYHEDNF |
OrthoDBi | 541116at2759 |
PhylomeDBi | P15313 |
TreeFami | TF300313 |
Enzyme and pathway databases
PathwayCommonsi | P15313 |
Reactomei | R-HSA-1222556, ROS and RNS production in phagocytes R-HSA-77387, Insulin receptor recycling R-HSA-917977, Transferrin endocytosis and recycling R-HSA-9639288, Amino acids regulate mTORC1 R-HSA-983712, Ion channel transport |
SignaLinki | P15313 |
Miscellaneous databases
BioGRID-ORCSi | 525, 5 hits in 1032 CRISPR screens |
GeneWikii | ATP6V1B1 |
GenomeRNAii | 525 |
Pharosi | P15313, Tchem |
PROi | PR:P15313 |
RNActi | P15313, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000116039, Expressed in adult mammalian kidney and 124 other tissues |
ExpressionAtlasi | P15313, baseline and differential |
Genevisiblei | P15313, HS |
Family and domain databases
HAMAPi | MF_00310, ATP_synth_B_arch, 1 hit |
InterProi | View protein in InterPro IPR020003, ATPase_a/bsu_AS IPR004100, ATPase_F1/V1/A1_a/bsu_N IPR000194, ATPase_F1/V1/A1_a/bsu_nucl-bd IPR005723, ATPase_V1-cplx_bsu IPR027417, P-loop_NTPase IPR022879, V-ATPase_su_B/beta |
PANTHERi | PTHR43389, PTHR43389, 1 hit |
Pfami | View protein in Pfam PF00006, ATP-synt_ab, 1 hit PF02874, ATP-synt_ab_N, 1 hit |
PIRSFi | PIRSF039114, V-ATPsynth_beta/V-ATPase_B, 1 hit |
SUPFAMi | SSF52540, SSF52540, 1 hit |
TIGRFAMsi | TIGR01040, V-ATPase_V1_B, 1 hit |
PROSITEi | View protein in PROSITE PS00152, ATPASE_ALPHA_BETA, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | VATB1_HUMAN | |
Accessioni | P15313Primary (citable) accession number: P15313 Secondary accession number(s): Q53FY0, Q6P4H6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1990 |
Last sequence update: | November 25, 2008 | |
Last modified: | February 23, 2022 | |
This is version 218 of the entry and version 3 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 2
Human chromosome 2: 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 - SIMILARITY comments
Index of protein domains and families