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UniProtKB - P35368 (ADA1B_HUMAN)
Protein
Alpha-1B adrenergic receptor
Gene
ADRA1B
Organism
Homo sapiens (Human)
Status
Functioni
This alpha-adrenergic receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Its effect is mediated by G(q) and G(11) proteins. Nuclear ADRA1A-ADRA1B heterooligomers regulate phenylephrine (PE)-stimulated ERK signaling in cardiac myocytes.
2 PublicationsGO - Molecular functioni
- alpha1-adrenergic receptor activity Source: GO_Central
- G protein-coupled receptor activity Source: GO_Central
- protein heterodimerization activity Source: UniProtKB
GO - Biological processi
- adenylate cyclase-activating adrenergic receptor signaling pathway Source: GO_Central
- adenylate cyclase-modulating G protein-coupled receptor signaling pathway Source: ProtInc
- cell-cell signaling Source: GO_Central
- G protein-coupled receptor signaling pathway Source: ProtInc
- intracellular signal transduction Source: ProtInc
- neuron-glial cell signaling Source: ARUK-UCL
- phospholipase C-activating G protein-coupled receptor signaling pathway Source: GO_Central
- positive regulation of cytosolic calcium ion concentration Source: GO_Central
- positive regulation of heart rate by epinephrine-norepinephrine Source: GO_Central
- positive regulation of MAPK cascade Source: UniProtKB
- positive regulation of vasoconstriction Source: GO_Central
- regulation of cardiac muscle contraction Source: InterPro
Keywordsi
Molecular function | G-protein coupled receptor, Receptor, Transducer |
Enzyme and pathway databases
PathwayCommonsi | P35368 |
Reactomei | R-HSA-390696, Adrenoceptors R-HSA-416476, G alpha (q) signalling events R-HSA-416482, G alpha (12/13) signalling events |
SignaLinki | P35368 |
SIGNORi | P35368 |
Names & Taxonomyi
Protein namesi | Recommended name: Alpha-1B adrenergic receptorAlternative name(s): Alpha-1B adrenoreceptor Short name: Alpha-1B adrenoceptor |
Gene namesi | Name:ADRA1B |
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:278, ADRA1B |
MIMi | 104220, gene |
neXtProti | NX_P35368 |
VEuPathDBi | HostDB:ENSG00000170214 |
Subcellular locationi
Nucleus
Plasma membrane
- Cell membrane 1 Publication; Multi-pass membrane protein Sequence analysis
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Other locations
- caveola 1 Publication
Note: Location at the nuclear membrane facilitates heterooligomerization and regulates ERK-mediated signaling in cardiac myocytes. signaling in cardiac myocytes. Colocalizes with GNAQ, PLCB1 as well as LAP2 at the nuclear membrane of cardiac myocytes.
Nucleus
- nuclear membrane Source: UniProtKB
- nucleus Source: UniProtKB
Plasma Membrane
- caveola Source: UniProtKB-SubCell
- integral component of plasma membrane Source: GO_Central
- plasma membrane Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 45 | ExtracellularBy similarityAdd BLAST | 45 | |
Transmembranei | 46 – 70 | Helical; Name=1By similarityAdd BLAST | 25 | |
Topological domaini | 71 – 83 | CytoplasmicBy similarityAdd BLAST | 13 | |
Transmembranei | 84 – 105 | Helical; Name=2By similarityAdd BLAST | 22 | |
Topological domaini | 106 – 115 | ExtracellularBy similarity | 10 | |
Transmembranei | 116 – 141 | Helical; Name=3By similarityAdd BLAST | 26 | |
Topological domaini | 142 – 161 | CytoplasmicBy similarityAdd BLAST | 20 | |
Transmembranei | 162 – 184 | Helical; Name=4By similarityAdd BLAST | 23 | |
Topological domaini | 185 – 201 | ExtracellularBy similarityAdd BLAST | 17 | |
Transmembranei | 202 – 224 | Helical; Name=5By similarityAdd BLAST | 23 | |
Topological domaini | 225 – 295 | CytoplasmicBy similarityAdd BLAST | 71 | |
Transmembranei | 296 – 319 | Helical; Name=6By similarityAdd BLAST | 24 | |
Topological domaini | 320 – 326 | ExtracellularBy similarity | 7 | |
Transmembranei | 327 – 351 | Helical; Name=7By similarityAdd BLAST | 25 | |
Topological domaini | 352 – 520 | CytoplasmicBy similarityAdd BLAST | 169 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Membrane, NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 368 – 380 | RGRGR…RRRRR → AGAGAAAAAAAAA: Abolishes targeting to the nuclear membrane of cardiac myocytes. 1 PublicationAdd BLAST | 13 |
Organism-specific databases
DisGeNETi | 147 |
OpenTargetsi | ENSG00000170214 |
PharmGKBi | PA33 |
Miscellaneous databases
Pharosi | P35368, Tclin |
Chemistry databases
ChEMBLi | CHEMBL232 |
DrugBanki | DB01614, Acepromazine DB00346, Alfuzosin DB00321, Amitriptyline DB00543, Amoxapine DB00182, Amphetamine DB09229, Aranidipine DB01238, Aripiprazole DB14185, Aripiprazole lauroxil DB09204, Arotinolol DB09128, Brexpiprazole DB01200, Bromocriptine DB00490, Buspirone DB00248, Cabergoline DB01136, Carvedilol DB00477, Chlorpromazine DB09202, Cirazoline DB00575, Clonidine DB00363, Clozapine DB00298, Dapiprazole DB01151, Desipramine DB01576, Dextroamphetamine DB11273, Dihydroergocornine DB13345, Dihydroergocristine DB00320, Dihydroergotamine DB11278, DL-Methylephedrine DB00841, Dobutamine DB09167, Dosulepin DB00590, Doxazosin DB01142, Doxepin DB04855, Dronedarone DB06262, Droxidopa DB05492, Epicept NP-1 DB00668, Epinephrine DB01049, Ergoloid mesylate DB00696, Ergotamine DB01175, Escitalopram DB09194, Etoperidone DB00800, Fenoldopam DB00458, Imipramine DB11577, Indigotindisulfonic acid DB00598, Labetalol DB09195, Lorpiprazole DB00408, Loxapine DB00934, Maprotiline DB01365, Mephentermine DB01403, Methotrimeprazine DB00723, Methoxamine DB06148, Mianserin DB00211, Midodrine DB00370, Mirtazapine DB00745, Modafinil DB09205, Moxisylyte DB01149, Nefazodone DB00622, Nicardipine DB00368, Norepinephrine DB00540, Nortriptyline DB06229, Ocaperidone DB00334, Olanzapine DB00935, Oxymetazoline DB01267, Paliperidone DB00715, Paroxetine DB01186, Pergolide DB01608, Periciazine DB08922, Perospirone DB01579, Phendimetrazine DB00925, Phenoxybenzamine DB00692, Phentolamine DB00388, Phenylephrine DB09286, Pipamperone DB06153, Pizotifen DB00457, Prazosin DB00433, Prochlorperazine DB01069, Promethazine DB01224, Quetiapine DB00908, Quinidine DB05469, R450 DB11124, Racepinephrine DB00243, Ranolazine DB00734, Risperidone DB00268, Ropinirole DB06144, Sertindole DB06207, Silodosin DB09203, Synephrine DB00706, Tamsulosin DB01162, Terazosin DB06764, Tetryzoline DB01622, Thioproperazine DB00679, Thioridazine DB13025, Tiapride DB00697, Tizanidine DB00726, Trimipramine DB00661, Verapamil DB06694, Xylometazoline DB00246, Ziprasidone |
DrugCentrali | P35368 |
GuidetoPHARMACOLOGYi | 23 |
Genetic variation databases
BioMutai | ADRA1B |
DMDMi | 116241241 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000069069 | 1 – 520 | Alpha-1B adrenergic receptorAdd BLAST | 520 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 10 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 24 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 29 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 34 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 118 ↔ 195 | PROSITE-ProRule annotation | ||
Modified residuei | 264 | PhosphothreonineBy similarity | 1 | |
Lipidationi | 365 | S-palmitoyl cysteineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, PhosphoproteinProteomic databases
MassIVEi | P35368 |
MaxQBi | P35368 |
PaxDbi | P35368 |
PeptideAtlasi | P35368 |
PRIDEi | P35368 |
ProteomicsDBi | 55037 |
PTM databases
GlyGeni | P35368, 4 sites |
iPTMneti | P35368 |
PhosphoSitePlusi | P35368 |
Expressioni
Gene expression databases
Bgeei | ENSG00000170214, Expressed in thoracic aorta and 106 other tissues |
ExpressionAtlasi | P35368, baseline and differential |
Genevisiblei | P35368, HS |
Organism-specific databases
HPAi | ENSG00000170214, Tissue enhanced (brain, liver, lymphoid tissue) |
Interactioni
Subunit structurei
GO - Molecular functioni
- protein heterodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 106657, 6 interactors |
DIPi | DIP-33399N |
IntActi | P35368, 9 interactors |
MINTi | P35368 |
STRINGi | 9606.ENSP00000306662 |
Chemistry databases
BindingDBi | P35368 |
Miscellaneous databases
RNActi | P35368, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 394 – 432 | DisorderedSequence analysisAdd BLAST | 39 | |
Regioni | 479 – 520 | DisorderedSequence analysisAdd BLAST | 42 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 368 – 380 | Nuclear localization signalAdd BLAST | 13 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 407 – 425 | Polar residuesSequence analysisAdd BLAST | 19 |
Sequence similaritiesi
Belongs to the G-protein coupled receptor 1 family. Adrenergic receptor subfamily. ADRA1B sub-subfamily.PROSITE-ProRule annotation
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3656, Eukaryota |
GeneTreei | ENSGT00940000156944 |
HOGENOMi | CLU_009579_11_6_1 |
InParanoidi | P35368 |
OMAi | STRAKGH |
OrthoDBi | 1095345at2759 |
PhylomeDBi | P35368 |
TreeFami | TF331895 |
Family and domain databases
InterProi | View protein in InterPro IPR002233, ADR_fam IPR001115, ADRA1B_rcpt IPR000276, GPCR_Rhodpsn IPR017452, GPCR_Rhodpsn_7TM |
PANTHERi | PTHR24248:SF17, PTHR24248:SF17, 1 hit |
Pfami | View protein in Pfam PF00001, 7tm_1, 1 hit |
PRINTSi | PR01103, ADRENERGICR PR00556, ADRENRGCA1BR PR00237, GPCRRHODOPSN |
SMARTi | View protein in SMART SM01381, 7TM_GPCR_Srsx, 1 hit |
PROSITEi | View protein in PROSITE PS00237, G_PROTEIN_RECEP_F1_1, 1 hit PS50262, G_PROTEIN_RECEP_F1_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
P35368-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MNPDLDTGHN TSAPAHWGEL KNANFTGPNQ TSSNSTLPQL DITRAISVGL
60 70 80 90 100
VLGAFILFAI VGNILVILSV ACNRHLRTPT NYFIVNLAMA DLLLSFTVLP
110 120 130 140 150
FSAALEVLGY WVLGRIFCDI WAAVDVLCCT ASILSLCAIS IDRYIGVRYS
160 170 180 190 200
LQYPTLVTRR KAILALLSVW VLSTVISIGP LLGWKEPAPN DDKECGVTEE
210 220 230 240 250
PFYALFSSLG SFYIPLAVIL VMYCRVYIVA KRTTKNLEAG VMKEMSNSKE
260 270 280 290 300
LTLRIHSKNF HEDTLSSTKA KGHNPRSSIA VKLFKFSREK KAAKTLGIVV
310 320 330 340 350
GMFILCWLPF FIALPLGSLF STLKPPDAVF KVVFWLGYFN SCLNPIIYPC
360 370 380 390 400
SSKEFKRAFV RILGCQCRGR GRRRRRRRRR LGGCAYTYRP WTRGGSLERS
410 420 430 440 450
QSRKDSLDDS GSCLSGSQRT LPSASPSPGY LGRGAPPPVE LCAFPEWKAP
460 470 480 490 500
GALLSLPAPE PPGRRGRHDS GPLFTFKLLT EPESPGTDGG ASNGGCEAAA
510 520
DVANGQPGFK SNMPLAPGQF
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A286YF88 | A0A286YF88_HUMAN | Alpha-1B adrenergic receptor | ADRA1B | 35 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 371 | Missing (PubMed:1328250).Curated | 1 | |
Sequence conflicti | 371 | Missing in AAB59485 (PubMed:7815325).Curated | 1 | |
Sequence conflicti | 498 – 501 | AAAD → PRH (PubMed:1328250).Curated | 4 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_019510 | 51 | V → G. Corresponds to variant dbSNP:rs8192448Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M99589 Genomic DNA No translation available. M99590 Genomic DNA No translation available. U03865 mRNA Translation: AAB60352.1 L31773 mRNA Translation: AAB59485.1 EU332831 Genomic DNA Translation: ABY87520.1 BC136568 mRNA Translation: AAI36569.1 BC136569 mRNA Translation: AAI36570.1 |
CCDSi | CCDS4347.1 |
PIRi | A45121 |
RefSeqi | NP_000670.1, NM_000679.3 |
Genome annotation databases
Ensembli | ENST00000306675.5; ENSP00000306662.3; ENSG00000170214.5 |
GeneIDi | 147 |
KEGGi | hsa:147 |
MANE-Selecti | ENST00000306675.5; ENSP00000306662.3; NM_000679.4; NP_000670.1 |
UCSCi | uc003lxt.2, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M99589 Genomic DNA No translation available. M99590 Genomic DNA No translation available. U03865 mRNA Translation: AAB60352.1 L31773 mRNA Translation: AAB59485.1 EU332831 Genomic DNA Translation: ABY87520.1 BC136568 mRNA Translation: AAI36569.1 BC136569 mRNA Translation: AAI36570.1 |
CCDSi | CCDS4347.1 |
PIRi | A45121 |
RefSeqi | NP_000670.1, NM_000679.3 |
3D structure databases
AlphaFoldDBi | P35368 |
SMRi | P35368 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 106657, 6 interactors |
DIPi | DIP-33399N |
IntActi | P35368, 9 interactors |
MINTi | P35368 |
STRINGi | 9606.ENSP00000306662 |
Chemistry databases
BindingDBi | P35368 |
ChEMBLi | CHEMBL232 |
DrugBanki | DB01614, Acepromazine DB00346, Alfuzosin DB00321, Amitriptyline DB00543, Amoxapine DB00182, Amphetamine DB09229, Aranidipine DB01238, Aripiprazole DB14185, Aripiprazole lauroxil DB09204, Arotinolol DB09128, Brexpiprazole DB01200, Bromocriptine DB00490, Buspirone DB00248, Cabergoline DB01136, Carvedilol DB00477, Chlorpromazine DB09202, Cirazoline DB00575, Clonidine DB00363, Clozapine DB00298, Dapiprazole DB01151, Desipramine DB01576, Dextroamphetamine DB11273, Dihydroergocornine DB13345, Dihydroergocristine DB00320, Dihydroergotamine DB11278, DL-Methylephedrine DB00841, Dobutamine DB09167, Dosulepin DB00590, Doxazosin DB01142, Doxepin DB04855, Dronedarone DB06262, Droxidopa DB05492, Epicept NP-1 DB00668, Epinephrine DB01049, Ergoloid mesylate DB00696, Ergotamine DB01175, Escitalopram DB09194, Etoperidone DB00800, Fenoldopam DB00458, Imipramine DB11577, Indigotindisulfonic acid DB00598, Labetalol DB09195, Lorpiprazole DB00408, Loxapine DB00934, Maprotiline DB01365, Mephentermine DB01403, Methotrimeprazine DB00723, Methoxamine DB06148, Mianserin DB00211, Midodrine DB00370, Mirtazapine DB00745, Modafinil DB09205, Moxisylyte DB01149, Nefazodone DB00622, Nicardipine DB00368, Norepinephrine DB00540, Nortriptyline DB06229, Ocaperidone DB00334, Olanzapine DB00935, Oxymetazoline DB01267, Paliperidone DB00715, Paroxetine DB01186, Pergolide DB01608, Periciazine DB08922, Perospirone DB01579, Phendimetrazine DB00925, Phenoxybenzamine DB00692, Phentolamine DB00388, Phenylephrine DB09286, Pipamperone DB06153, Pizotifen DB00457, Prazosin DB00433, Prochlorperazine DB01069, Promethazine DB01224, Quetiapine DB00908, Quinidine DB05469, R450 DB11124, Racepinephrine DB00243, Ranolazine DB00734, Risperidone DB00268, Ropinirole DB06144, Sertindole DB06207, Silodosin DB09203, Synephrine DB00706, Tamsulosin DB01162, Terazosin DB06764, Tetryzoline DB01622, Thioproperazine DB00679, Thioridazine DB13025, Tiapride DB00697, Tizanidine DB00726, Trimipramine DB00661, Verapamil DB06694, Xylometazoline DB00246, Ziprasidone |
DrugCentrali | P35368 |
GuidetoPHARMACOLOGYi | 23 |
Protein family/group databases
GPCRDBi | Search... |
PTM databases
GlyGeni | P35368, 4 sites |
iPTMneti | P35368 |
PhosphoSitePlusi | P35368 |
Genetic variation databases
BioMutai | ADRA1B |
DMDMi | 116241241 |
Proteomic databases
MassIVEi | P35368 |
MaxQBi | P35368 |
PaxDbi | P35368 |
PeptideAtlasi | P35368 |
PRIDEi | P35368 |
ProteomicsDBi | 55037 |
Protocols and materials databases
Antibodypediai | 16635, 507 antibodies from 38 providers |
DNASUi | 147 |
Genome annotation databases
Ensembli | ENST00000306675.5; ENSP00000306662.3; ENSG00000170214.5 |
GeneIDi | 147 |
KEGGi | hsa:147 |
MANE-Selecti | ENST00000306675.5; ENSP00000306662.3; NM_000679.4; NP_000670.1 |
UCSCi | uc003lxt.2, human |
Organism-specific databases
CTDi | 147 |
DisGeNETi | 147 |
GeneCardsi | ADRA1B |
HGNCi | HGNC:278, ADRA1B |
HPAi | ENSG00000170214, Tissue enhanced (brain, liver, lymphoid tissue) |
MIMi | 104220, gene |
neXtProti | NX_P35368 |
OpenTargetsi | ENSG00000170214 |
PharmGKBi | PA33 |
VEuPathDBi | HostDB:ENSG00000170214 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3656, Eukaryota |
GeneTreei | ENSGT00940000156944 |
HOGENOMi | CLU_009579_11_6_1 |
InParanoidi | P35368 |
OMAi | STRAKGH |
OrthoDBi | 1095345at2759 |
PhylomeDBi | P35368 |
TreeFami | TF331895 |
Enzyme and pathway databases
PathwayCommonsi | P35368 |
Reactomei | R-HSA-390696, Adrenoceptors R-HSA-416476, G alpha (q) signalling events R-HSA-416482, G alpha (12/13) signalling events |
SignaLinki | P35368 |
SIGNORi | P35368 |
Miscellaneous databases
BioGRID-ORCSi | 147, 11 hits in 1078 CRISPR screens |
ChiTaRSi | ADRA1B, human |
GeneWikii | Alpha-1B_adrenergic_receptor |
GenomeRNAii | 147 |
Pharosi | P35368, Tclin |
PROi | PR:P35368 |
RNActi | P35368, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000170214, Expressed in thoracic aorta and 106 other tissues |
ExpressionAtlasi | P35368, baseline and differential |
Genevisiblei | P35368, HS |
Family and domain databases
InterProi | View protein in InterPro IPR002233, ADR_fam IPR001115, ADRA1B_rcpt IPR000276, GPCR_Rhodpsn IPR017452, GPCR_Rhodpsn_7TM |
PANTHERi | PTHR24248:SF17, PTHR24248:SF17, 1 hit |
Pfami | View protein in Pfam PF00001, 7tm_1, 1 hit |
PRINTSi | PR01103, ADRENERGICR PR00556, ADRENRGCA1BR PR00237, GPCRRHODOPSN |
SMARTi | View protein in SMART SM01381, 7TM_GPCR_Srsx, 1 hit |
PROSITEi | View protein in PROSITE PS00237, G_PROTEIN_RECEP_F1_1, 1 hit PS50262, G_PROTEIN_RECEP_F1_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ADA1B_HUMAN | |
Accessioni | P35368Primary (citable) accession number: P35368 Secondary accession number(s): B0LPE1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | October 17, 2006 | |
Last modified: | May 25, 2022 | |
This is version 186 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
- 7-transmembrane G-linked receptors
List of 7-transmembrane G-linked receptor entries - Human chromosome 5
Human chromosome 5: 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