UniProtKB - Q93038 (TNR25_HUMAN)
Tumor necrosis factor receptor superfamily member 25
TNFRSF25
Functioni
GO - Molecular functioni
- signaling receptor activity Source: UniProtKB
- tumor necrosis factor-activated receptor activity Source: ProtInc
GO - Biological processi
- apoptotic process Source: ProtInc
- apoptotic signaling pathway Source: ProtInc
- cell surface receptor signaling pathway Source: ProtInc
- regulation of apoptotic process Source: UniProtKB
- signal transduction Source: ProtInc
- tumor necrosis factor-mediated signaling pathway Source: Reactome
Keywordsi
Molecular function | Receptor |
Biological process | Apoptosis |
Enzyme and pathway databases
PathwayCommonsi | Q93038 |
Reactomei | R-HSA-5669034, TNFs bind their physiological receptors |
SIGNORi | Q93038 |
Names & Taxonomyi
Protein namesi | Recommended name: Tumor necrosis factor receptor superfamily member 25Alternative name(s): Apo-3 Apoptosis-inducing receptor AIR Apoptosis-mediating receptor DR3 Apoptosis-mediating receptor TRAMP Death receptor 3 Lymphocyte-associated receptor of death Short name: LARD Protein WSL Protein WSL-1 |
Gene namesi | Name:TNFRSF25 Synonyms:APO3, DDR3, DR3, TNFRSF12, WSL, WSL1 ORF Names:UNQ455/PRO779 |
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:ENSG00000215788.9 |
HGNCi | HGNC:11910, TNFRSF25 |
MIMi | 603366, gene |
neXtProti | NX_Q93038 |
Subcellular locationi
Plasma membrane
Plasma membrane
Plasma membrane
Plasma membrane
Extracellular region or secreted
Extracellular region or secreted
Extracellular region or secreted
Extracellular region or secreted
Extracellular region or secreted
Extracellular region or secreted
Extracellular region or secreted
Extracellular region or secreted
Cytosol
- cytosol Source: UniProtKB
Extracellular region or secreted
- extracellular region Source: UniProtKB-SubCell
Plasma Membrane
- integral component of plasma membrane Source: ProtInc
- plasma membrane Source: MGI
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 25 – 199 | ExtracellularSequence analysisAdd BLAST | 175 | |
Transmembranei | 200 – 220 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 221 – 417 | CytoplasmicSequence analysisAdd BLAST | 197 |
Keywords - Cellular componenti
Cell membrane, Membrane, SecretedPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 354 | L → A: Suppresses homodimerization, TNFR1 interaction, and apoptosis induction. 1 Publication | 1 | |
Mutagenesisi | 356 | L → A: Suppresses homodimerization, and TNFR1 interaction. 1 Publication | 1 | |
Mutagenesisi | 373 | D → A: Suppresses homodimerization, and TNFR1 interaction. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 8718 |
OpenTargetsi | ENSG00000215788 |
PharmGKBi | PA36603 |
Miscellaneous databases
Pharosi | Q93038, Tbio |
Polymorphism and mutation databases
BioMutai | TNFRSF25 |
DMDMi | 2501233 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 24 | Sequence analysisAdd BLAST | 24 | |
ChainiPRO_0000034606 | 25 – 417 | Tumor necrosis factor receptor superfamily member 25Add BLAST | 393 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 35 ↔ 47 | PROSITE-ProRule annotation | ||
Disulfide bondi | 48 ↔ 61 | PROSITE-ProRule annotation | ||
Disulfide bondi | 51 ↔ 70 | PROSITE-ProRule annotation | ||
Glycosylationi | 67 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 73 ↔ 89 | PROSITE-ProRule annotation | ||
Disulfide bondi | 92 ↔ 107 | PROSITE-ProRule annotation | ||
Disulfide bondi | 95 ↔ 115 | PROSITE-ProRule annotation | ||
Glycosylationi | 106 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 117 ↔ 130 | PROSITE-ProRule annotation | ||
Disulfide bondi | 138 ↔ 155 | PROSITE-ProRule annotation | ||
Disulfide bondi | 141 ↔ 162 | PROSITE-ProRule annotation | ||
Disulfide bondi | 165 ↔ 176 | PROSITE-ProRule annotation | ||
Disulfide bondi | 179 ↔ 191 | PROSITE-ProRule annotation | ||
Disulfide bondi | 187 ↔ 195 | PROSITE-ProRule annotation |
Post-translational modificationi
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
PeptideAtlasi | Q93038 |
PRIDEi | Q93038 |
ProteomicsDBi | 75674 [Q93038-1] 75675 [Q93038-10] 75676 [Q93038-11] 75677 [Q93038-12] 75678 [Q93038-2] 75679 [Q93038-3] 75680 [Q93038-4] 75681 [Q93038-5] 75682 [Q93038-6] 75683 [Q93038-7] 75684 [Q93038-8] 75685 [Q93038-9] |
PTM databases
GlyGeni | Q93038, 2 sites |
iPTMneti | Q93038 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000215788, Expressed in right hemisphere of cerebellum and 194 other tissues |
ExpressionAtlasi | Q93038, baseline and differential |
Genevisiblei | Q93038, HS |
Organism-specific databases
HPAi | ENSG00000215788, Tissue enhanced (brain, lymphoid tissue, skin) |
Interactioni
Subunit structurei
Homodimer.
Interacts strongly via the death domains with TNFRSF1 and TRADD to activate at least two distinct signaling cascades, apoptosis and NF-kappa-B signaling.
Interacts with BAG4.
1 PublicationProtein-protein interaction databases
BioGRIDi | 114258, 11 interactors |
DIPi | DIP-59563N |
IntActi | Q93038, 1 interactor |
STRINGi | 9606.ENSP00000367013 |
Miscellaneous databases
RNActi | Q93038, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q93038 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 34 – 71 | TNFR-Cys 1Add BLAST | 38 | |
Repeati | 72 – 115 | TNFR-Cys 2Add BLAST | 44 | |
Repeati | 116 – 163 | TNFR-Cys 3Add BLAST | 48 | |
Repeati | 164 – 192 | TNFR-Cys 4Add BLAST | 29 | |
Domaini | 332 – 413 | DeathPROSITE-ProRule annotationAdd BLAST | 82 |
Keywords - Domaini
Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S19V, Eukaryota |
GeneTreei | ENSGT00940000161888 |
HOGENOMi | CLU_053353_0_0_1 |
InParanoidi | Q93038 |
OMAi | GVFWVQV |
OrthoDBi | 726174at2759 |
PhylomeDBi | Q93038 |
TreeFami | TF333916 |
Family and domain databases
CDDi | cd13420, TNFRSF25, 1 hit |
InterProi | View protein in InterPro IPR011029, DEATH-like_dom_sf IPR000488, Death_domain IPR001368, TNFR/NGFR_Cys_rich_reg IPR022329, TNFR_25 IPR034050, TNFRSF25_N |
PANTHERi | PTHR47220, PTHR47220, 1 hit |
Pfami | View protein in Pfam PF00531, Death, 1 hit PF00020, TNFR_c6, 1 hit |
PRINTSi | PR01972, TNFACTORR25 |
SMARTi | View protein in SMART SM00005, DEATH, 1 hit SM00208, TNFR, 2 hits |
SUPFAMi | SSF47986, SSF47986, 1 hit |
PROSITEi | View protein in PROSITE PS50017, DEATH_DOMAIN, 1 hit PS00652, TNFR_NGFR_1, 2 hits PS50050, TNFR_NGFR_2, 1 hit |
s (12+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 12 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 12 described isoforms and 3 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
MEQRPRGCAA VAAALLLVLL GARAQGGTRS PRCDCAGDFH KKIGLFCCRG
60 70 80 90 100
CPAGHYLKAP CTEPCGNSTC LVCPQDTFLA WENHHNSECA RCQACDEQAS
110 120 130 140 150
QVALENCSAV ADTRCGCKPG WFVECQVSQC VSSSPFYCQP CLDCGALHRH
160 170 180 190 200
TRLLCSRRDT DCGTCLPGFY EHGDGCVSCP TSTLGSCPER CAAVCGWRQM
210 220 230 240 250
FWVQVLLAGL VVPLLLGATL TYTYRHCWPH KPLVTADEAG MEALTPPPAT
260 270 280 290 300
HLSPLDSAHT LLAPPDSSEK ICTVQLVGNS WTPGYPETQE ALCPQVTWSW
310 320 330 340 350
DQLPSRALGP AAAPTLSPES PAGSPAMMLQ PGPQLYDVMD AVPARRWKEF
360 370 380 390 400
VRTLGLREAE IEAVEVEIGR FRDQQYEMLK RWRQQQPAGL GAVYAALERM
410
GLDGCVEDLR SRLQRGP
The sequence of this isoform differs from the canonical sequence as follows:
182-218: STLGSCPERCAAVCGWRQMFWVQVLLAGLVVPLLLGA → VLGPGAPGWPCGPPPAWGHPDLHIPPLLASQAPGYCR
219-417: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
200-253: MFWVQVLLAG...LTPPPATHLS → SRWCAGNARG...LWSPSCLGPP
254-417: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
182-417: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
54-98: Missing.
182-417: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
54-98: Missing.
156-171: SRRDTDCGTCLPGFYE → HPSVTLGQRPHPSSTS
172-417: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
200-237: MFWVQVLLAGLVVPLLLGATLTYTYRHCWPHKPLVTAD → N
The sequence of this isoform differs from the canonical sequence as follows:
182-200: STLGSCPERCAAVCGWRQM → PPPSLAGAPWGAVQSAVPLSVAGGRVGV
The sequence of this isoform differs from the canonical sequence as follows:
182-277: STLGSCPERC...SEKICTVQLV → PPPSLAGAPW...LASQAPGYCR
278-417: Missing.
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3ISD9 | A0A3B3ISD9_HUMAN | Tumor necrosis factor receptor supe... | TNFRSF25 | 373 | Annotation score: | ||
A0A0C4DGF3 | A0A0C4DGF3_HUMAN | Tumor necrosis factor receptor supe... | TNFRSF25 | 253 | Annotation score: | ||
K7EJY9 | K7EJY9_HUMAN | Tumor necrosis factor receptor supe... | TNFRSF25 | 45 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 4 – 6 | RPR → AAA in AAC51192 (PubMed:9052839).Curated | 3 | |
Sequence conflicti | 4 – 6 | RPR → AAA in AAC51193 (PubMed:9052839).Curated | 3 | |
Sequence conflicti | 60 | P → H in AAB41435 (Ref. 13) Curated | 1 | |
Sequence conflicti | 167 | P → L (PubMed:9052839).Curated | 1 | |
Sequence conflicti | 167 | P → L (Ref. 13) Curated | 1 | |
Sequence conflicti | 312 | A → R (PubMed:8934525).Curated | 1 | |
Sequence conflicti | 312 | A → R (PubMed:9446802).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018826 | 23 | R → Q1 PublicationCorresponds to variant dbSNP:rs35771371Ensembl. | 1 | |
Natural variantiVAR_018827 | 159 | D → G2 PublicationsCorresponds to variant dbSNP:rs11800462Ensembl. | 1 | |
Natural variantiVAR_018828 | 254 | P → R1 PublicationCorresponds to variant dbSNP:rs34529016Ensembl. | 1 | |
Natural variantiVAR_011814 | 370 | R → L. Corresponds to variant dbSNP:rs1064590Ensembl. | 1 | |
Natural variantiVAR_011815 | 381 | R → H. Corresponds to variant dbSNP:rs1059333Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_006492 | 54 – 236 | Missing in isoform 8. 1 PublicationAdd BLAST | 183 | |
Alternative sequenceiVSP_006491 | 54 – 98 | Missing in isoform 6, isoform 7 and isoform 9. 1 PublicationAdd BLAST | 45 | |
Alternative sequenceiVSP_006493 | 156 – 171 | SRRDT…PGFYE → HPSVTLGQRPHPSSTS in isoform 7. 1 PublicationAdd BLAST | 16 | |
Alternative sequenceiVSP_006494 | 172 – 417 | Missing in isoform 7. 1 PublicationAdd BLAST | 246 | |
Alternative sequenceiVSP_006495 | 182 – 417 | Missing in isoform 5 and isoform 6. 1 PublicationAdd BLAST | 236 | |
Alternative sequenceiVSP_006499 | 182 – 277 | STLGS…TVQLV → PPPSLAGAPWGAVQSAVPLS VAGGRVGGVLGMRVGELGWT EGRRVRRGATTQHPPAAFSV LGPGAPGWPCGPPPAWGHPD LHIPPLLASQAPGYCR in isoform 12. 1 PublicationAdd BLAST | 96 | |
Alternative sequenceiVSP_006497 | 182 – 218 | STLGS…LLLGA → VLGPGAPGWPCGPPPAWGHP DLHIPPLLASQAPGYCR in isoform 3. 2 PublicationsAdd BLAST | 37 | |
Alternative sequenceiVSP_006496 | 182 – 200 | STLGS…GWRQM → PPPSLAGAPWGAVQSAVPLS VAGGRVGV in isoform 11. 1 PublicationAdd BLAST | 19 | |
Alternative sequenceiVSP_006501 | 200 – 253 | MFWVQ…ATHLS → SRWCAGNARGRTGMDRGEAG EEGGNHPTPTSCFQCSGSRC SWLALWSPSCLGPP in isoform 4. 2 PublicationsAdd BLAST | 54 | |
Alternative sequenceiVSP_006503 | 200 – 237 | MFWVQ…LVTAD → N in isoform 10. 2 PublicationsAdd BLAST | 38 | |
Alternative sequenceiVSP_006498 | 219 – 417 | Missing in isoform 3. 2 PublicationsAdd BLAST | 199 | |
Alternative sequenceiVSP_006504 | 236 | A → AA in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_006502 | 254 – 417 | Missing in isoform 4. 2 PublicationsAdd BLAST | 164 | |
Alternative sequenceiVSP_006500 | 278 – 417 | Missing in isoform 12. 1 PublicationAdd BLAST | 140 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y09392 mRNA Translation: CAA70561.1 Y09392 mRNA Translation: CAA70559.1 Y09392 mRNA Translation: CAA70560.1 U72763 mRNA Translation: AAC50819.1 U83599 Genomic DNA Translation: AAB41434.1 U83600 Genomic DNA Translation: AAB41435.1 U78029 mRNA Translation: AAB40918.1 U74611 mRNA Translation: AAB39714.1 U94501 mRNA Translation: AAC51306.1 U94504 mRNA Translation: AAC51309.1 U94502 mRNA Translation: AAC51307.1 U94503 mRNA Translation: AAC51308.1 U94505 mRNA Translation: AAC51310.1 U94506 mRNA Translation: AAC51311.1 U94507 mRNA Translation: AAC51312.1 U94508 mRNA Translation: AAC51313.1 U94509 mRNA Translation: AAC51314.1 U94510 mRNA Translation: AAC51315.1 U94512 mRNA Translation: AAC51316.1 U83598 mRNA Translation: AAB41433.1 AF026070 mRNA Translation: AAC39556.1 AF026071 mRNA Translation: AAB82288.1 AB051850 Genomic DNA Translation: BAB40662.1 AB051851 Genomic DNA Translation: BAB40663.1 AY358309 mRNA Translation: AAQ88676.1 AY254324 Genomic DNA Translation: AAO63495.1 U75380 mRNA Translation: AAC51192.1 AL158217 Genomic DNA No translation available. BC117189 mRNA Translation: AAI17190.1 BC143886 mRNA Translation: AAI43887.1 U75381 mRNA Translation: AAC51193.1 U83597 mRNA Translation: AAB41432.1 |
CCDSi | CCDS71.1 [Q93038-1] CCDS72.1 [Q93038-11] CCDS73.1 [Q93038-10] CCDS74.1 [Q93038-9] CCDS75.1 [Q93038-8] |
RefSeqi | NP_001034753.1, NM_001039664.1 [Q93038-5] NP_003781.1, NM_003790.2 [Q93038-1] NP_683866.1, NM_148965.1 [Q93038-11] NP_683867.1, NM_148966.1 [Q93038-10] NP_683868.1, NM_148967.1 [Q93038-9] NP_683871.1, NM_148970.1 [Q93038-8] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5YGP | X-ray | 2.09 | A/B/C/D | 328-415 | [»] | |
5YGS | X-ray | 2.69 | A/B/C/D | 328-415 | [»] | |
SMRi | Q93038 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 114258, 11 interactors |
DIPi | DIP-59563N |
IntActi | Q93038, 1 interactor |
STRINGi | 9606.ENSP00000367013 |
PTM databases
GlyGeni | Q93038, 2 sites |
iPTMneti | Q93038 |
Polymorphism and mutation databases
BioMutai | TNFRSF25 |
DMDMi | 2501233 |
Proteomic databases
PeptideAtlasi | Q93038 |
PRIDEi | Q93038 |
ProteomicsDBi | 75674 [Q93038-1] 75675 [Q93038-10] 75676 [Q93038-11] 75677 [Q93038-12] 75678 [Q93038-2] 75679 [Q93038-3] 75680 [Q93038-4] 75681 [Q93038-5] 75682 [Q93038-6] 75683 [Q93038-7] 75684 [Q93038-8] 75685 [Q93038-9] |
Protocols and materials databases
Antibodypediai | 13011, 686 antibodies |
Genome annotation databases
Organism-specific databases
CTDi | 8718 |
DisGeNETi | 8718 |
EuPathDBi | HostDB:ENSG00000215788.9 |
GeneCardsi | TNFRSF25 |
HGNCi | HGNC:11910, TNFRSF25 |
HPAi | ENSG00000215788, Tissue enhanced (brain, lymphoid tissue, skin) |
MIMi | 603366, gene |
neXtProti | NX_Q93038 |
OpenTargetsi | ENSG00000215788 |
PharmGKBi | PA36603 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S19V, Eukaryota |
GeneTreei | ENSGT00940000161888 |
HOGENOMi | CLU_053353_0_0_1 |
InParanoidi | Q93038 |
OMAi | GVFWVQV |
OrthoDBi | 726174at2759 |
PhylomeDBi | Q93038 |
TreeFami | TF333916 |
Enzyme and pathway databases
PathwayCommonsi | Q93038 |
Reactomei | R-HSA-5669034, TNFs bind their physiological receptors |
SIGNORi | Q93038 |
Miscellaneous databases
BioGRID-ORCSi | 8718, 4 hits in 842 CRISPR screens |
ChiTaRSi | TNFRSF25, human |
GeneWikii | TNFRSF25 |
GenomeRNAii | 8718 |
Pharosi | Q93038, Tbio |
PROi | PR:Q93038 |
RNActi | Q93038, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000215788, Expressed in right hemisphere of cerebellum and 194 other tissues |
ExpressionAtlasi | Q93038, baseline and differential |
Genevisiblei | Q93038, HS |
Family and domain databases
CDDi | cd13420, TNFRSF25, 1 hit |
InterProi | View protein in InterPro IPR011029, DEATH-like_dom_sf IPR000488, Death_domain IPR001368, TNFR/NGFR_Cys_rich_reg IPR022329, TNFR_25 IPR034050, TNFRSF25_N |
PANTHERi | PTHR47220, PTHR47220, 1 hit |
Pfami | View protein in Pfam PF00531, Death, 1 hit PF00020, TNFR_c6, 1 hit |
PRINTSi | PR01972, TNFACTORR25 |
SMARTi | View protein in SMART SM00005, DEATH, 1 hit SM00208, TNFR, 2 hits |
SUPFAMi | SSF47986, SSF47986, 1 hit |
PROSITEi | View protein in PROSITE PS50017, DEATH_DOMAIN, 1 hit PS00652, TNFR_NGFR_1, 2 hits PS50050, TNFR_NGFR_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TNR25_HUMAN | |
Accessioni | Q93038Primary (citable) accession number: Q93038 Secondary accession number(s): B1ALX2 Q9UME5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | November 1, 1997 | |
Last modified: | December 2, 2020 | |
This is version 194 of the entry and version 2 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
3D-structure, 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - 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