UniProtKB - Q8TCT9 (HM13_HUMAN)
Minor histocompatibility antigen H13
HM13
Functioni
Catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein, resulting in the release of the fragment from the ER membrane into the cytoplasm. Required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides (PubMed:11714810).
May be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein (PubMed:12145199).
Involved in the intramembrane cleavage of the integral membrane protein PSEN1 (PubMed:12077416, PubMed:11714810, PubMed:14741365).
Cleaves the integral membrane protein XBP1 isoform 1 in a DERL1/RNF139-dependent manner (PubMed:25239945).
May play a role in graft rejection (By similarity).
By similarity5 PublicationsSites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 219 | By similarity | 1 | |
Active sitei | 265 | By similarity | 1 |
GO - Molecular functioni
- aspartic endopeptidase activity, intramembrane cleaving Source: UniProtKB
- peptidase activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- ubiquitin protein ligase binding Source: UniProtKB
GO - Biological processi
- in utero embryonic development Source: Ensembl
- membrane protein proteolysis Source: UniProtKB
- membrane protein proteolysis involved in retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
- regulation of heme oxygenase activity Source: Reactome
- signal peptide processing Source: GO_Central
Keywordsi
Molecular function | Hydrolase, Protease |
Enzyme and pathway databases
PathwayCommonsi | Q8TCT9 |
Reactomei | R-HSA-9707587, Regulation of HMOX1 expression and activity |
SignaLinki | Q8TCT9 |
Protein family/group databases
MEROPSi | A22.003 |
Names & Taxonomyi
Protein namesi | Recommended name: Minor histocompatibility antigen H13 (EC:3.4.23.-)Alternative name(s): Intramembrane protease 1 Short name: IMP-1 Short name: IMPAS-1 Short name: hIMP1 Presenilin-like protein 3 Signal peptide peptidase |
Gene namesi | Name:HM13 Synonyms:H13, IMP1, PSL3, SPP ORF Names:MSTP086 |
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:16435, HM13 |
MIMi | 607106, gene |
neXtProti | NX_Q8TCT9 |
VEuPathDBi | HostDB:ENSG00000101294 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein Curated
Other locations
- Membrane 2 Publications; Multi-pass membrane protein Curated; Lumenal side 2 Publications
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein By similarity
Endoplasmic reticulum
- Derlin-1 retrotranslocation complex Source: ParkinsonsUK-UCL
- endoplasmic reticulum Source: HPA
- endoplasmic reticulum membrane Source: Reactome
- integral component of cytoplasmic side of endoplasmic reticulum membrane Source: UniProtKB
- integral component of lumenal side of endoplasmic reticulum membrane Source: UniProtKB
- rough endoplasmic reticulum Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- cell surface Source: UniProtKB
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 31 | Lumenal2 PublicationsAdd BLAST | 31 | |
Transmembranei | 32 – 52 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 53 – 77 | CytoplasmicSequence analysisAdd BLAST | 25 | |
Transmembranei | 78 – 98 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 99 – 100 | LumenalSequence analysis | 2 | |
Transmembranei | 101 – 121 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 122 – 157 | CytoplasmicSequence analysisAdd BLAST | 36 | |
Transmembranei | 158 – 178 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 179 – 181 | LumenalSequence analysis | 3 | |
Transmembranei | 182 – 202 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 203 – 209 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 210 – 230 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 231 – 256 | Lumenal1 PublicationAdd BLAST | 26 | |
Transmembranei | 257 – 277 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 278 – 290 | CytoplasmicSequence analysisAdd BLAST | 13 | |
Transmembranei | 291 – 311 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 312 – 314 | LumenalSequence analysis | 3 | |
Transmembranei | 315 – 335 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 336 – 377 | Cytoplasmic1 PublicationAdd BLAST | 42 |
Keywords - Cellular componenti
Cell membrane, Endoplasmic reticulum, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 10 | N → Q: Abolishes N-glycosylation; when associated with Q-20. 1 Publication | 1 | |
Mutagenesisi | 20 | N → Q: Abolishes N-glycosylation; when associated with Q-10. 1 Publication | 1 | |
Mutagenesisi | 219 | D → A: Abolishes proteolysis of PSEN1. 1 Publication | 1 | |
Mutagenesisi | 264 | G → A: No effect on proteolysis of PSEN1. 1 Publication | 1 | |
Mutagenesisi | 265 | D → A: No effect on inhibitor binding; abolishes catalytic activity. Abolishes proteolysis of PSEN1. Abolishes proteolysis of XBP1 isoform 1 and increases interaction with XBP1 isoform 1. 3 Publications | 1 | |
Mutagenesisi | 317 | P → L: Abolishes proteolysis of PSEN1. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 81502 |
OpenTargetsi | ENSG00000101294 |
PharmGKBi | PA29314 |
Miscellaneous databases
Pharosi | Q8TCT9, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4523407 |
DrugBanki | DB00277, Theophylline |
Genetic variation databases
BioMutai | HM13 |
DMDMi | 25008563 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000073907 | 1 – 377 | Minor histocompatibility antigen H13Add BLAST | 377 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 10 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 20 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Modified residuei | 367 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Glycoprotein, PhosphoproteinProteomic databases
CPTACi | CPTAC-1612 |
EPDi | Q8TCT9 |
jPOSTi | Q8TCT9 |
MassIVEi | Q8TCT9 |
MaxQBi | Q8TCT9 |
PeptideAtlasi | Q8TCT9 |
PRIDEi | Q8TCT9 |
ProteomicsDBi | 74165 [Q8TCT9-1] 74166 [Q8TCT9-2] 74167 [Q8TCT9-4] 74168 [Q8TCT9-5] |
TopDownProteomicsi | Q8TCT9-1 [Q8TCT9-1] Q8TCT9-5 [Q8TCT9-5] |
PTM databases
GlyGeni | Q8TCT9, 3 sites, 1 O-linked glycan (1 site) |
iPTMneti | Q8TCT9 |
MetOSitei | Q8TCT9 |
PhosphoSitePlusi | Q8TCT9 |
SwissPalmi | Q8TCT9 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000101294, Expressed in muscle tissue and 214 other tissues |
ExpressionAtlasi | Q8TCT9, baseline and differential |
Genevisiblei | Q8TCT9, HS |
Organism-specific databases
HPAi | ENSG00000101294, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Q8TCT9
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
- ubiquitin protein ligase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 123505, 131 interactors |
IntActi | Q8TCT9, 44 interactors |
MINTi | Q8TCT9 |
Miscellaneous databases
RNActi | Q8TCT9, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q8TCT9 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 27 | DisorderedSequence analysisAdd BLAST | 27 | |
Regioni | 345 – 377 | DisorderedSequence analysisAdd BLAST | 33 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 317 – 319 | PAL | 3 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 13 – 27 | Polar residuesSequence analysisAdd BLAST | 15 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
GeneTreei | ENSGT00940000156478 |
HOGENOMi | CLU_023799_0_0_1 |
InParanoidi | Q8TCT9 |
OMAi | LFSYEDH |
OrthoDBi | 1087991at2759 |
PhylomeDBi | Q8TCT9 |
TreeFami | TF105854 |
Family and domain databases
InterProi | View protein in InterPro IPR007369, Peptidase_A22B_SPP IPR006639, Preselin/SPP |
PANTHERi | PTHR12174, PTHR12174, 1 hit |
Pfami | View protein in Pfam PF04258, Peptidase_A22B, 1 hit |
SMARTi | View protein in SMART SM00730, PSN, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
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
MDSALSDPHN GSAEAGGPTN STTRPPSTPE GIALAYGSLL LMALLPIFFG
60 70 80 90 100
ALRSVRCARG KNASDMPETI TSRDAARFPI IASCTLLGLY LFFKIFSQEY
110 120 130 140 150
INLLLSMYFF VLGILALSHT ISPFMNKFFP ASFPNRQYQL LFTQGSGENK
160 170 180 190 200
EEIINYEFDT KDLVCLGLSS IVGVWYLLRK HWIANNLFGL AFSLNGVELL
210 220 230 240 250
HLNNVSTGCI LLGGLFIYDV FWVFGTNVMV TVAKSFEAPI KLVFPQDLLE
260 270 280 290 300
KGLEANNFAM LGLGDVVIPG IFIALLLRFD ISLKKNTHTY FYTSFAAYIF
310 320 330 340 350
GLGLTIFIMH IFKHAQPALL YLVPACIGFP VLVALAKGEV TEMFSYEESN
360 370
PKDPAAVTES KEGTEASASK GLEKKEK
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3IUB5 | A0A3B3IUB5_HUMAN | Minor histocompatibility antigen H1... | HM13 | 420 | Annotation score: | ||
A0A075B6F6 | A0A075B6F6_HUMAN | Minor histocompatibility antigen H1... | HM13 | 272 | Annotation score: | ||
A0A0S2Z6F0 | A0A0S2Z6F0_HUMAN | Histocompatibility 13 isoform 2 | HM13 | 345 | Annotation score: | ||
A0A3B3IT72 | A0A3B3IT72_HUMAN | Minor histocompatibility antigen H1... | HM13 | 365 | Annotation score: | ||
A0A0C4DGU3 | A0A0C4DGU3_HUMAN | Minor histocompatibility antigen H1... | HM13 | 143 | Annotation score: | ||
A0A087WVH6 | A0A087WVH6_HUMAN | Minor histocompatibility antigen H1... | HM13 | 50 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 132 | S → N AA sequence (PubMed:12077416).Curated | 1 | |
Sequence conflicti | 150 | K → R in BAC11519 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 159 | D → A AA sequence (PubMed:12077416).Curated | 1 | |
Sequence conflicti | 235 | S → F in AAH08938 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 235 | S → F in AAH08959 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 295 | F → Y in AAQ13609 (Ref. 7) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_014274 | 259 | A → P. Corresponds to variant dbSNP:rs1044419Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015082 | 181 – 222 | Missing in isoform 5. CuratedAdd BLAST | 42 | |
Alternative sequenceiVSP_005196 | 347 | E → ESSAEILPHTPRLTHFPTVS GSPASLADSMQQKLAGPRRR RPQNPSAIYE in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_015083 | 348 – 377 | ESNPK…EKKEK → SSAEILPHTPRLTHFPTVSG SPASLADSMQQKLAGPRRRR PQNPSAM in isoform 4. 2 PublicationsAdd BLAST | 30 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ420895 mRNA Translation: CAD13132.1 AF515663 mRNA Translation: AAN77099.1 AY169310 mRNA Translation: AAO12535.1 AY169311 mRNA Translation: AAO12536.1 AY169312 mRNA Translation: AAO12537.1 DQ168450 mRNA Translation: ABA56163.1 AJ345029 mRNA Translation: CAC87790.1 AF483215 mRNA Translation: AAM22076.1 AF172086 mRNA Translation: AAQ13609.1 Frameshift. AK074686 mRNA Translation: BAC11138.1 Sequence problems. AK075283 mRNA Translation: BAC11519.1 AK314410 mRNA Translation: BAG37032.1 AL110115 Genomic DNA No translation available. AL121751 Genomic DNA No translation available. CH471077 Genomic DNA Translation: EAW76436.1 CH471077 Genomic DNA Translation: EAW76437.1 CH471077 Genomic DNA Translation: EAW76435.1 CH471077 Genomic DNA Translation: EAW76438.1 BC008938 mRNA Translation: AAH08938.1 BC008959 mRNA Translation: AAH08959.1 BC062595 mRNA Translation: AAH62595.1 |
CCDSi | CCDS13182.1 [Q8TCT9-1] CCDS13183.1 [Q8TCT9-4] CCDS42861.1 [Q8TCT9-2] |
RefSeqi | NP_110416.1, NM_030789.3 [Q8TCT9-1] NP_848695.1, NM_178580.2 [Q8TCT9-4] NP_848696.1, NM_178581.2 [Q8TCT9-2] NP_848697.1, NM_178582.2 |
Genome annotation databases
Ensembli | ENST00000335574.10; ENSP00000335294.5; ENSG00000101294.18 [Q8TCT9-4] ENST00000340852.9; ENSP00000343032.5; ENSG00000101294.18 ENST00000398174.9; ENSP00000381237.3; ENSG00000101294.18 [Q8TCT9-2] ENST00000674240.1; ENSP00000501423.1; ENSG00000101294.18 [Q8TCT9-4] |
GeneIDi | 81502 |
KEGGi | hsa:81502 |
MANE-Selecti | ENST00000398174.9; ENSP00000381237.3; NM_178581.3; NP_848696.1 [Q8TCT9-2] |
UCSCi | uc002wwb.3, human [Q8TCT9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ420895 mRNA Translation: CAD13132.1 AF515663 mRNA Translation: AAN77099.1 AY169310 mRNA Translation: AAO12535.1 AY169311 mRNA Translation: AAO12536.1 AY169312 mRNA Translation: AAO12537.1 DQ168450 mRNA Translation: ABA56163.1 AJ345029 mRNA Translation: CAC87790.1 AF483215 mRNA Translation: AAM22076.1 AF172086 mRNA Translation: AAQ13609.1 Frameshift. AK074686 mRNA Translation: BAC11138.1 Sequence problems. AK075283 mRNA Translation: BAC11519.1 AK314410 mRNA Translation: BAG37032.1 AL110115 Genomic DNA No translation available. AL121751 Genomic DNA No translation available. CH471077 Genomic DNA Translation: EAW76436.1 CH471077 Genomic DNA Translation: EAW76437.1 CH471077 Genomic DNA Translation: EAW76435.1 CH471077 Genomic DNA Translation: EAW76438.1 BC008938 mRNA Translation: AAH08938.1 BC008959 mRNA Translation: AAH08959.1 BC062595 mRNA Translation: AAH62595.1 |
CCDSi | CCDS13182.1 [Q8TCT9-1] CCDS13183.1 [Q8TCT9-4] CCDS42861.1 [Q8TCT9-2] |
RefSeqi | NP_110416.1, NM_030789.3 [Q8TCT9-1] NP_848695.1, NM_178580.2 [Q8TCT9-4] NP_848696.1, NM_178581.2 [Q8TCT9-2] NP_848697.1, NM_178582.2 |
3D structure databases
AlphaFoldDBi | Q8TCT9 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123505, 131 interactors |
IntActi | Q8TCT9, 44 interactors |
MINTi | Q8TCT9 |
Chemistry databases
ChEMBLi | CHEMBL4523407 |
DrugBanki | DB00277, Theophylline |
Protein family/group databases
MEROPSi | A22.003 |
PTM databases
GlyGeni | Q8TCT9, 3 sites, 1 O-linked glycan (1 site) |
iPTMneti | Q8TCT9 |
MetOSitei | Q8TCT9 |
PhosphoSitePlusi | Q8TCT9 |
SwissPalmi | Q8TCT9 |
Genetic variation databases
BioMutai | HM13 |
DMDMi | 25008563 |
Proteomic databases
CPTACi | CPTAC-1612 |
EPDi | Q8TCT9 |
jPOSTi | Q8TCT9 |
MassIVEi | Q8TCT9 |
MaxQBi | Q8TCT9 |
PeptideAtlasi | Q8TCT9 |
PRIDEi | Q8TCT9 |
ProteomicsDBi | 74165 [Q8TCT9-1] 74166 [Q8TCT9-2] 74167 [Q8TCT9-4] 74168 [Q8TCT9-5] |
TopDownProteomicsi | Q8TCT9-1 [Q8TCT9-1] Q8TCT9-5 [Q8TCT9-5] |
Protocols and materials databases
Antibodypediai | 25181, 139 antibodies from 22 providers |
DNASUi | 81502 |
Genome annotation databases
Ensembli | ENST00000335574.10; ENSP00000335294.5; ENSG00000101294.18 [Q8TCT9-4] ENST00000340852.9; ENSP00000343032.5; ENSG00000101294.18 ENST00000398174.9; ENSP00000381237.3; ENSG00000101294.18 [Q8TCT9-2] ENST00000674240.1; ENSP00000501423.1; ENSG00000101294.18 [Q8TCT9-4] |
GeneIDi | 81502 |
KEGGi | hsa:81502 |
MANE-Selecti | ENST00000398174.9; ENSP00000381237.3; NM_178581.3; NP_848696.1 [Q8TCT9-2] |
UCSCi | uc002wwb.3, human [Q8TCT9-1] |
Organism-specific databases
CTDi | 81502 |
DisGeNETi | 81502 |
GeneCardsi | HM13 |
HGNCi | HGNC:16435, HM13 |
HPAi | ENSG00000101294, Low tissue specificity |
MIMi | 607106, gene |
neXtProti | NX_Q8TCT9 |
OpenTargetsi | ENSG00000101294 |
PharmGKBi | PA29314 |
VEuPathDBi | HostDB:ENSG00000101294 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00940000156478 |
HOGENOMi | CLU_023799_0_0_1 |
InParanoidi | Q8TCT9 |
OMAi | LFSYEDH |
OrthoDBi | 1087991at2759 |
PhylomeDBi | Q8TCT9 |
TreeFami | TF105854 |
Enzyme and pathway databases
PathwayCommonsi | Q8TCT9 |
Reactomei | R-HSA-9707587, Regulation of HMOX1 expression and activity |
SignaLinki | Q8TCT9 |
Miscellaneous databases
BioGRID-ORCSi | 81502, 38 hits in 1079 CRISPR screens |
ChiTaRSi | HM13, human |
GeneWikii | HM13 |
GenomeRNAii | 81502 |
Pharosi | Q8TCT9, Tbio |
PROi | PR:Q8TCT9 |
RNActi | Q8TCT9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000101294, Expressed in muscle tissue and 214 other tissues |
ExpressionAtlasi | Q8TCT9, baseline and differential |
Genevisiblei | Q8TCT9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007369, Peptidase_A22B_SPP IPR006639, Preselin/SPP |
PANTHERi | PTHR12174, PTHR12174, 1 hit |
Pfami | View protein in Pfam PF04258, Peptidase_A22B, 1 hit |
SMARTi | View protein in SMART SM00730, PSN, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | HM13_HUMAN | |
Accessioni | Q8TCT9Primary (citable) accession number: Q8TCT9 Secondary accession number(s): B2RAY5 Q9H111 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 8, 2002 |
Last sequence update: | June 1, 2002 | |
Last modified: | May 25, 2022 | |
This is version 183 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 20
Human chromosome 20: 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