UniProtKB - Q14703 (MBTP1_HUMAN)
Membrane-bound transcription factor site-1 protease
MBTPS1
Functioni
Serine protease that cleaves after hydrophobic or small residues, provided that Arg or Lys is in position P4: known substrates are SREBF1/SREBP1, SREBF2/SREBP2, BDNF, GNPTAB, ATF6 and ATF6B (PubMed:10644685, PubMed:12782636, PubMed:21719679).
Cleaves substrates after Arg-Ser-Val-Leu (SREBP2), Arg-His-Leu-Leu (ATF6), Arg-Gly-Leu-Thr (BDNF) and its own propeptide after Arg-Arg-Leu-Leu (PubMed:10644685, PubMed:21719679).
Catalyzes the first step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:12782636).
Also mediates the first step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:12782636).
Mediates the protein cleavage of GNPTAB into subunit alpha and beta, thereby participating in biogenesis of lysosomes (PubMed:21719679).
Involved in the regulation of M6P-dependent Golgi-to-lysosome trafficking of lysosomal enzymes (PubMed:21719679, PubMed:30046013).
It is required for the activation of CREB3L2/BBF2H7, a transcriptional activator of MIA3/TANGO and other genes controlling mega vesicle formation (PubMed:30046013).
Therefore, it plays a key role in the regulation of mega vesicle-mediated collagen trafficking (PubMed:30046013).
4 PublicationsCatalytic activityi
- Processes precursors containing basic and hydrophobic/aliphatic residues at P4 and P2, respectively, with a relatively relaxed acceptance of amino acids at P1 and P3.3 Publications EC:3.4.21.112
Cofactori
Activity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 218 | Charge relay systemPROSITE-ProRule annotation | 1 | |
Active sitei | 249 | Charge relay systemPROSITE-ProRule annotation | 1 | |
Active sitei | 414 | Charge relay systemPROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- serine-type endopeptidase activity Source: UniProtKB
GO - Biological processi
- ATF6-mediated unfolded protein response Source: ParkinsonsUK-UCL
- cholesterol metabolic process Source: UniProtKB-KW
- endoplasmic reticulum unfolded protein response Source: Reactome
- lysosome organization Source: UniProtKB
- membrane protein intracellular domain proteolysis Source: ParkinsonsUK-UCL
- proteolysis Source: UniProtKB
- regulation of cholesterol biosynthetic process Source: Reactome
- regulation of vesicle-mediated transport Source: UniProtKB
- response to endoplasmic reticulum stress Source: ParkinsonsUK-UCL
Keywordsi
Molecular function | Hydrolase, Protease, Serine protease |
Biological process | Cholesterol metabolism, Lipid metabolism, Steroid metabolism, Sterol metabolism |
Ligand | Calcium |
Enzyme and pathway databases
BRENDAi | 3.4.21.112, 2681 |
PathwayCommonsi | Q14703 |
Reactomei | R-HSA-1655829, Regulation of cholesterol biosynthesis by SREBP (SREBF) R-HSA-381033, ATF6 (ATF6-alpha) activates chaperones R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-8874211, CREB3 factors activate genes R-HSA-8957275, Post-translational protein phosphorylation R-HSA-8963889, Assembly of active LPL and LIPC lipase complexes |
SignaLinki | Q14703 |
SIGNORi | Q14703 |
Protein family/group databases
MEROPSi | S08.063 |
Names & Taxonomyi
Protein namesi | Recommended name: Membrane-bound transcription factor site-1 proteaseCurated (EC:3.4.21.1122 Publications)Alternative name(s): Endopeptidase S1P1 Publication Subtilisin/kexin-isozyme 11 Publication Short name: SKI-11 Publication |
Gene namesi | |
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:15456, MBTPS1 |
MIMi | 603355, gene |
neXtProti | NX_Q14703 |
VEuPathDBi | HostDB:ENSG00000140943 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Golgi apparatus
- Golgi apparatus membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Note: May sort to other organelles, including lysosomal and/or endosomal compartments.1 Publication
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Reactome
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Golgi apparatus
- Golgi apparatus Source: GO_Central
- Golgi membrane Source: Reactome
- Golgi stack Source: Ensembl
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 187 – 998 | LumenalSequence analysisAdd BLAST | 812 | |
Transmembranei | 999 – 1021 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 1022 – 1052 | CytoplasmicSequence analysisAdd BLAST | 31 |
Keywords - Cellular componenti
Endoplasmic reticulum, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Spondyloepiphyseal dysplasia, Kondo-Fu type (SEDKF)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082197 | 365 | D → G in SEDKF; due to a nucleotide substitution that creates a dominant splice donor site in exon 9; two different type of transcripts are produced, a major non-functional alternatively spliced transcript with a 41-bp deletion of exon 9, loss of S-414 in the catalytic triad and premature truncation and a normally spliced transcript with variant G-365; the transcript with G-365 produces a catalytically active protein but is the less abundant. 1 PublicationCorresponds to variant dbSNP:rs1226321681EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 249 | H → A: Abolished serine protease activity. 1 Publication | 1 | |
Mutagenesisi | 414 | S → A: Abolished serine protease activity. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, DwarfismOrganism-specific databases
DisGeNETi | 8720 |
MalaCardsi | MBTPS1 |
MIMi | 618392, phenotype |
OpenTargetsi | ENSG00000140943 |
PharmGKBi | PA30671 |
Miscellaneous databases
Pharosi | Q14703, Tchem |
Chemistry databases
ChEMBLi | CHEMBL5916 |
GuidetoPHARMACOLOGYi | 2381 |
Genetic variation databases
BioMutai | MBTPS1 |
DMDMi | 17368466 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 17 | Add BLAST | 17 | |
PropeptideiPRO_0000027051 | 18 – 186 | Add BLAST | 169 | |
ChainiPRO_0000027052 | 187 – 1052 | Membrane-bound transcription factor site-1 proteaseAdd BLAST | 866 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 168 | Phosphoserine; by FAM20C1 Publication | 1 | |
Glycosylationi | 236 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 305 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 515 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 728 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 939 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 186 – 187 | Cleavage; by autolysis1 Publication | 2 |
Keywords - PTMi
Autocatalytic cleavage, Glycoprotein, Phosphoprotein, ZymogenProteomic databases
EPDi | Q14703 |
jPOSTi | Q14703 |
MassIVEi | Q14703 |
MaxQBi | Q14703 |
PaxDbi | Q14703 |
PeptideAtlasi | Q14703 |
PRIDEi | Q14703 |
ProteomicsDBi | 60141 |
PTM databases
GlyConnecti | 1500, 1 N-Linked glycan (1 site) |
GlyGeni | Q14703, 6 sites, 1 N-linked glycan (1 site) |
iPTMneti | Q14703 |
PhosphoSitePlusi | Q14703 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000140943, Expressed in adenohypophysis and 250 other tissues |
ExpressionAtlasi | Q14703, baseline and differential |
Genevisiblei | Q14703, HS |
Organism-specific databases
HPAi | ENSG00000140943, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 114259, 124 interactors |
IntActi | Q14703, 13 interactors |
MINTi | Q14703 |
STRINGi | 9606.ENSP00000344223 |
Chemistry databases
BindingDBi | Q14703 |
Miscellaneous databases
RNActi | Q14703, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 190 – 472 | Peptidase S8PROSITE-ProRule annotationAdd BLAST | 283 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 877 – 899 | DisorderedSequence analysisAdd BLAST | 23 | |
Regioni | 1027 – 1052 | DisorderedSequence analysisAdd BLAST | 26 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 877 – 891 | Polar residuesSequence analysisAdd BLAST | 15 |
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4266, Eukaryota |
GeneTreei | ENSGT00490000043404 |
HOGENOMi | CLU_004504_1_0_1 |
InParanoidi | Q14703 |
OMAi | MKFANIW |
OrthoDBi | 340650at2759 |
PhylomeDBi | Q14703 |
TreeFami | TF324501 |
Family and domain databases
CDDi | cd07479, Peptidases_S8_SKI-1_like, 1 hit |
Gene3Di | 3.40.50.200, 1 hit |
InterProi | View protein in InterPro IPR000209, Peptidase_S8/S53_dom IPR036852, Peptidase_S8/S53_dom_sf IPR022398, Peptidase_S8_His-AS IPR023828, Peptidase_S8_Ser-AS IPR015500, Peptidase_S8_subtilisin-rel IPR034185, Site-1_peptidase_cat_dom |
Pfami | View protein in Pfam PF00082, Peptidase_S8, 1 hit |
PRINTSi | PR00723, SUBTILISIN |
SUPFAMi | SSF52743, SSF52743, 1 hit |
PROSITEi | View protein in PROSITE PS51892, SUBTILASE, 1 hit PS00137, SUBTILASE_HIS, 1 hit PS00138, SUBTILASE_SER, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MKLVNIWLLL LVVLLCGKKH LGDRLEKKSF EKAPCPGCSH LTLKVEFSST
60 70 80 90 100
VVEYEYIVAF NGYFTAKARN SFISSALKSS EVDNWRIIPR NNPSSDYPSD
110 120 130 140 150
FEVIQIKEKQ KAGLLTLEDH PNIKRVTPQR KVFRSLKYAE SDPTVPCNET
160 170 180 190 200
RWSQKWQSSR PLRRASLSLG SGFWHATGRH SSRRLLRAIP RQVAQTLQAD
210 220 230 240 250
VLWQMGYTGA NVRVAVFDTG LSEKHPHFKN VKERTNWTNE RTLDDGLGHG
260 270 280 290 300
TFVAGVIASM RECQGFAPDA ELHIFRVFTN NQVSYTSWFL DAFNYAILKK
310 320 330 340 350
IDVLNLSIGG PDFMDHPFVD KVWELTANNV IMVSAIGNDG PLYGTLNNPA
360 370 380 390 400
DQMDVIGVGG IDFEDNIARF SSRGMTTWEL PGGYGRMKPD IVTYGAGVRG
410 420 430 440 450
SGVKGGCRAL SGTSVASPVV AGAVTLLVST VQKRELVNPA SMKQALIASA
460 470 480 490 500
RRLPGVNMFE QGHGKLDLLR AYQILNSYKP QASLSPSYID LTECPYMWPY
510 520 530 540 550
CSQPIYYGGM PTVVNVTILN GMGVTGRIVD KPDWQPYLPQ NGDNIEVAFS
560 570 580 590 600
YSSVLWPWSG YLAISISVTK KAASWEGIAQ GHVMITVASP AETESKNGAE
610 620 630 640 650
QTSTVKLPIK VKIIPTPPRS KRVLWDQYHN LRYPPGYFPR DNLRMKNDPL
660 670 680 690 700
DWNGDHIHTN FRDMYQHLRS MGYFVEVLGA PFTCFDASQY GTLLMVDSEE
710 720 730 740 750
EYFPEEIAKL RRDVDNGLSL VIFSDWYNTS VMRKVKFYDE NTRQWWMPDT
760 770 780 790 800
GGANIPALNE LLSVWNMGFS DGLYEGEFTL ANHDMYYASG CSIAKFPEDG
810 820 830 840 850
VVITQTFKDQ GLEVLKQETA VVENVPILGL YQIPAEGGGR IVLYGDSNCL
860 870 880 890 900
DDSHRQKDCF WLLDALLQYT SYGVTPPSLS HSGNRQRPPS GAGSVTPERM
910 920 930 940 950
EGNHLHRYSK VLEAHLGDPK PRPLPACPRL SWAKPQPLNE TAPSNLWKHQ
960 970 980 990 1000
KLLSIDLDKV VLPNFRSNRP QVRPLSPGES GAWDIPGGIM PGRYNQEVGQ
1010 1020 1030 1040 1050
TIPVFAFLGA MVVLAFFVVQ INKAKSRPKR RKPRVKRPQL MQQVHPPKTP
SV
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WXJ6 | A0A087WXJ6_HUMAN | Membrane-bound transcription factor... | MBTPS1 | 134 | Annotation score: | ||
H3BV53 | H3BV53_HUMAN | Membrane-bound transcription factor... | MBTPS1 | 146 | Annotation score: | ||
H3BU75 | H3BU75_HUMAN | Membrane-bound transcription factor... | MBTPS1 | 81 | Annotation score: | ||
H3BS61 | H3BS61_HUMAN | Membrane-bound transcription factor... | MBTPS1 | 16 | Annotation score: | ||
A0A8I5KPA5 | A0A8I5KPA5_HUMAN | Membrane-bound transcription factor... | MBTPS1 | 8 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 843 | L → Q in BAF84462 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051822 | 6 | I → T. Corresponds to variant dbSNP:rs34701895Ensembl. | 1 | |
Natural variantiVAR_051823 | 90 | R → G. Corresponds to variant dbSNP:rs34076105Ensembl. | 1 | |
Natural variantiVAR_082197 | 365 | D → G in SEDKF; due to a nucleotide substitution that creates a dominant splice donor site in exon 9; two different type of transcripts are produced, a major non-functional alternatively spliced transcript with a 41-bp deletion of exon 9, loss of S-414 in the catalytic triad and premature truncation and a normally spliced transcript with variant G-365; the transcript with G-365 produces a catalytically active protein but is the less abundant. 1 PublicationCorresponds to variant dbSNP:rs1226321681EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D42053 mRNA Translation: BAA07653.2 Different initiation. AK291773 mRNA Translation: BAF84462.1 AC040169 Genomic RNA No translation available. BC114555 mRNA Translation: AAI14556.1 BC114961 mRNA Translation: AAI14962.1 AL133583 mRNA Translation: CAB63727.1 |
CCDSi | CCDS10941.1 |
PIRi | T43492 |
RefSeqi | NP_003782.1, NM_003791.3 |
Genome annotation databases
Ensembli | ENST00000343411.8; ENSP00000344223.3; ENSG00000140943.18 |
GeneIDi | 8720 |
KEGGi | hsa:8720 |
MANE-Selecti | ENST00000343411.8; ENSP00000344223.3; NM_003791.4; NP_003782.1 |
UCSCi | uc002fhi.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D42053 mRNA Translation: BAA07653.2 Different initiation. AK291773 mRNA Translation: BAF84462.1 AC040169 Genomic RNA No translation available. BC114555 mRNA Translation: AAI14556.1 BC114961 mRNA Translation: AAI14962.1 AL133583 mRNA Translation: CAB63727.1 |
CCDSi | CCDS10941.1 |
PIRi | T43492 |
RefSeqi | NP_003782.1, NM_003791.3 |
3D structure databases
AlphaFoldDBi | Q14703 |
SMRi | Q14703 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 114259, 124 interactors |
IntActi | Q14703, 13 interactors |
MINTi | Q14703 |
STRINGi | 9606.ENSP00000344223 |
Chemistry databases
BindingDBi | Q14703 |
ChEMBLi | CHEMBL5916 |
GuidetoPHARMACOLOGYi | 2381 |
Protein family/group databases
MEROPSi | S08.063 |
PTM databases
GlyConnecti | 1500, 1 N-Linked glycan (1 site) |
GlyGeni | Q14703, 6 sites, 1 N-linked glycan (1 site) |
iPTMneti | Q14703 |
PhosphoSitePlusi | Q14703 |
Genetic variation databases
BioMutai | MBTPS1 |
DMDMi | 17368466 |
Proteomic databases
EPDi | Q14703 |
jPOSTi | Q14703 |
MassIVEi | Q14703 |
MaxQBi | Q14703 |
PaxDbi | Q14703 |
PeptideAtlasi | Q14703 |
PRIDEi | Q14703 |
ProteomicsDBi | 60141 |
Protocols and materials databases
Antibodypediai | 1735, 132 antibodies from 23 providers |
DNASUi | 8720 |
Genome annotation databases
Ensembli | ENST00000343411.8; ENSP00000344223.3; ENSG00000140943.18 |
GeneIDi | 8720 |
KEGGi | hsa:8720 |
MANE-Selecti | ENST00000343411.8; ENSP00000344223.3; NM_003791.4; NP_003782.1 |
UCSCi | uc002fhi.5, human |
Organism-specific databases
CTDi | 8720 |
DisGeNETi | 8720 |
GeneCardsi | MBTPS1 |
HGNCi | HGNC:15456, MBTPS1 |
HPAi | ENSG00000140943, Low tissue specificity |
MalaCardsi | MBTPS1 |
MIMi | 603355, gene 618392, phenotype |
neXtProti | NX_Q14703 |
OpenTargetsi | ENSG00000140943 |
PharmGKBi | PA30671 |
VEuPathDBi | HostDB:ENSG00000140943 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4266, Eukaryota |
GeneTreei | ENSGT00490000043404 |
HOGENOMi | CLU_004504_1_0_1 |
InParanoidi | Q14703 |
OMAi | MKFANIW |
OrthoDBi | 340650at2759 |
PhylomeDBi | Q14703 |
TreeFami | TF324501 |
Enzyme and pathway databases
BRENDAi | 3.4.21.112, 2681 |
PathwayCommonsi | Q14703 |
Reactomei | R-HSA-1655829, Regulation of cholesterol biosynthesis by SREBP (SREBF) R-HSA-381033, ATF6 (ATF6-alpha) activates chaperones R-HSA-381426, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) R-HSA-8874211, CREB3 factors activate genes R-HSA-8957275, Post-translational protein phosphorylation R-HSA-8963889, Assembly of active LPL and LIPC lipase complexes |
SignaLinki | Q14703 |
SIGNORi | Q14703 |
Miscellaneous databases
BioGRID-ORCSi | 8720, 478 hits in 1092 CRISPR screens |
ChiTaRSi | MBTPS1, human |
GenomeRNAii | 8720 |
Pharosi | Q14703, Tchem |
PROi | PR:Q14703 |
RNActi | Q14703, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000140943, Expressed in adenohypophysis and 250 other tissues |
ExpressionAtlasi | Q14703, baseline and differential |
Genevisiblei | Q14703, HS |
Family and domain databases
CDDi | cd07479, Peptidases_S8_SKI-1_like, 1 hit |
Gene3Di | 3.40.50.200, 1 hit |
InterProi | View protein in InterPro IPR000209, Peptidase_S8/S53_dom IPR036852, Peptidase_S8/S53_dom_sf IPR022398, Peptidase_S8_His-AS IPR023828, Peptidase_S8_Ser-AS IPR015500, Peptidase_S8_subtilisin-rel IPR034185, Site-1_peptidase_cat_dom |
Pfami | View protein in Pfam PF00082, Peptidase_S8, 1 hit |
PRINTSi | PR00723, SUBTILISIN |
SUPFAMi | SSF52743, SSF52743, 1 hit |
PROSITEi | View protein in PROSITE PS51892, SUBTILASE, 1 hit PS00137, SUBTILASE_HIS, 1 hit PS00138, SUBTILASE_SER, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MBTP1_HUMAN | |
Accessioni | Q14703Primary (citable) accession number: Q14703 Secondary accession number(s): A8K6V8, Q24JQ2, Q9UF67 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 16, 2001 |
Last sequence update: | November 1, 1996 | |
Last modified: | May 25, 2022 | |
This is version 199 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
Direct protein sequencing, Reference proteomeDocuments
- Peptidase families
Classification of peptidase families and list of entries - Human chromosome 16
Human chromosome 16: 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