UniProtKB - P14778 (IL1R1_HUMAN)
Protein
Interleukin-1 receptor type 1
Gene
IL1R1
Organism
Homo sapiens (Human)
Status
Functioni
Receptor for IL1A, IL1B and IL1RN. After binding to interleukin-1 associates with the coreceptor IL1RAP to form the high affinity interleukin-1 receptor complex which mediates interleukin-1-dependent activation of NF-kappa-B, MAPK and other pathways. Signaling involves the recruitment of adapter molecules such as TOLLIP, MYD88, and IRAK1 or IRAK2 via the respective TIR domains of the receptor/coreceptor subunits. Binds ligands with comparable affinity and binding of antagonist IL1RN prevents association with IL1RAP to form a signaling complex. Involved in IL1B-mediated costimulation of IFNG production from T-helper 1 (Th1) cells (PubMed:10653850).2 Publications
Catalytic activityi
- EC:3.2.2.6PROSITE-ProRule annotationThis reaction proceeds in the forwardPROSITE-ProRule annotation direction.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 470 | PROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- interleukin-1, type I, activating receptor activity Source: ProtInc
- interleukin-1 binding Source: GO_Central
- interleukin-1 receptor activity Source: BHF-UCL
- NAD(P)+ nucleosidase activity Source: UniProtKB-EC
- NAD+ nucleotidase, cyclic ADP-ribose generating Source: UniProtKB-EC
- platelet-derived growth factor receptor binding Source: BHF-UCL
- protease binding Source: Ensembl
- transmembrane signaling receptor activity Source: ProtInc
GO - Biological processi
- cell surface receptor signaling pathway Source: ProtInc
- cytokine-mediated signaling pathway Source: Reactome
- immune response Source: ProtInc
- inflammatory response Source: UniProtKB-KW
- interleukin-1-mediated signaling pathway Source: BHF-UCL
- positive regulation of interferon-gamma production Source: UniProtKB
- positive regulation of interleukin-1-mediated signaling pathway Source: Ensembl
- positive regulation of neutrophil extravasation Source: Ensembl
- positive regulation of T-helper 1 cell cytokine production Source: UniProtKB
- regulation of inflammatory response Source: GO_Central
- response to interleukin-1 Source: BHF-UCL
Keywordsi
Molecular function | Hydrolase, Receptor |
Biological process | Inflammatory response |
Ligand | NAD |
Enzyme and pathway databases
PathwayCommonsi | P14778 |
Reactomei | R-HSA-6783783, Interleukin-10 signaling R-HSA-9020702, Interleukin-1 signaling R-HSA-9679191, Potential therapeutics for SARS |
SignaLinki | P14778 |
SIGNORi | P14778 |
Protein family/group databases
TCDBi | 8.A.23.1.11, the basigin (basigin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Interleukin-1 receptor type 1 (EC:3.2.2.6PROSITE-ProRule annotation)Short name: IL-1R-1 Short name: IL-1RT-1 Short name: IL-1RT1 Alternative name(s): CD121 antigen-like family member A Interleukin-1 receptor alpha Short name: IL-1R-alpha Interleukin-1 receptor type I p80 CD_antigen: CD121a Cleaved into the following 2 chains: |
Gene namesi | Name:IL1R1 Synonyms:IL1R, IL1RA, IL1RT1 |
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:5993, IL1R1 |
MIMi | 147810, gene |
neXtProti | NX_P14778 |
VEuPathDBi | HostDB:ENSG00000115594.11 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication
Extracellular region or secreted
- Secreted 1 Publication
Other locations
- Membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Extracellular region or secreted
- extracellular region Source: UniProtKB-SubCell
Plasma Membrane
- external side of plasma membrane Source: Ensembl
- integral component of plasma membrane Source: ProtInc
- plasma membrane Source: Reactome
Other locations
- membrane Source: BHF-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 18 – 336 | ExtracellularSequence analysisAdd BLAST | 319 | |
Transmembranei | 337 – 356 | HelicalSequence analysisAdd BLAST | 20 | |
Topological domaini | 357 – 569 | CytoplasmicSequence analysisAdd BLAST | 213 |
Keywords - Cellular componenti
Cell membrane, Membrane, SecretedPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 369 | D → A: Reduces NF-kappa-B activation. 1 Publication | 1 | |
Mutagenesisi | 428 | R → A: Reduces NF-kappa-B activation and receptor-associated kinase activation. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 3554 |
OpenTargetsi | ENSG00000115594 |
PharmGKBi | PA29809 |
Miscellaneous databases
Pharosi | P14778, Tclin |
Chemistry databases
ChEMBLi | CHEMBL1959 |
DrugBanki | DB00026, Anakinra DB10770, Foreskin fibroblast (neonatal) DB05303, OMS-103HP DB05207, SD118 |
DrugCentrali | P14778 |
GuidetoPHARMACOLOGYi | 1734 |
Genetic variation databases
BioMutai | IL1R1 |
DMDMi | 124308 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 17 | Add BLAST | 17 | |
ChainiPRO_0000015435 | 18 – 569 | Interleukin-1 receptor type 1, membrane formAdd BLAST | 552 | |
ChainiPRO_0000415344 | 18 – ? | Interleukin-1 receptor type 1, soluble form |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 23 ↔ 104 | |||
Disulfide bondi | 44 ↔ 96 | |||
Glycosylationi | 100 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 121 ↔ 164 | |||
Disulfide bondi | 142 ↔ 196 | |||
Glycosylationi | 193 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 233 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 248 ↔ 312 | |||
Glycosylationi | 249 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 263 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 297 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 496 | Phosphotyrosine1 Publication | 1 |
Post-translational modificationi
A soluble form (sIL1R1) is probably produced by proteolytic cleavage at the cell surface (shedding).1 Publication
Rapidly phosphorylated on Tyr-496 in response to IL-1, which creates a SH2 binding site for the PI 3-kinase regulatory subunit PIK3R1.1 Publication
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
jPOSTi | P14778 |
MassIVEi | P14778 |
MaxQBi | P14778 |
PaxDbi | P14778 |
PeptideAtlasi | P14778 |
PRIDEi | P14778 |
ProteomicsDBi | 53081 |
PTM databases
GlyGeni | P14778, 6 sites |
iPTMneti | P14778 |
PhosphoSitePlusi | P14778 |
Expressioni
Tissue specificityi
Expressed in T-helper cell subsets. Preferentially expressed in T-helper 1 (Th1) cells.1 Publication
Gene expression databases
Bgeei | ENSG00000115594, Expressed in palpebral conjunctiva and 237 other tissues |
ExpressionAtlasi | P14778, baseline and differential |
Genevisiblei | P14778, HS |
Organism-specific databases
HPAi | ENSG00000115594, Low tissue specificity |
Interactioni
Subunit structurei
The interleukin-1 receptor complex is a heterodimer of IL1R1 and IL1RAP.
Interacts with PIK3R1.
5 PublicationsBinary interactionsi
Hide detailsGO - Molecular functioni
- interleukin-1 binding Source: GO_Central
- platelet-derived growth factor receptor binding Source: BHF-UCL
- protease binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 109770, 29 interactors |
DIPi | DIP-93N |
IntActi | P14778, 15 interactors |
STRINGi | 9606.ENSP00000386380 |
Chemistry databases
BindingDBi | P14778 |
Miscellaneous databases
RNActi | P14778, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SASBDBi | P14778 |
SMRi | P14778 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P14778 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 23 – 110 | Ig-like C2-type 1Add BLAST | 88 | |
Domaini | 118 – 210 | Ig-like C2-type 2Add BLAST | 93 | |
Domaini | 226 – 328 | Ig-like C2-type 3Add BLAST | 103 | |
Domaini | 383 – 538 | TIRPROSITE-ProRule annotationAdd BLAST | 156 |
Domaini
The TIR domain mediates NAD+ hydrolase (NADase) activity. Self-association of TIR domains is required for NADase activity.PROSITE-ProRule annotation
Sequence similaritiesi
Belongs to the interleukin-1 receptor family.Curated
Keywords - Domaini
Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QWEU, Eukaryota |
GeneTreei | ENSGT01000000214361 |
HOGENOMi | CLU_025552_3_1_1 |
InParanoidi | P14778 |
OMAi | EISGFSW |
OrthoDBi | 1109920at2759 |
PhylomeDBi | P14778 |
TreeFami | TF325519 |
Family and domain databases
Gene3Di | 2.60.40.10, 3 hits 3.40.50.10140, 1 hit |
InterProi | View protein in InterPro IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR003599, Ig_sub IPR015621, IL-1_rcpt_fam IPR004076, IL-1_rcpt_I-typ IPR004074, IL-1_rcpt_I/II-typ IPR041416, IL-1RAcP-like_ig IPR000157, TIR_dom IPR035897, Toll_tir_struct_dom_sf |
PANTHERi | PTHR11890, PTHR11890, 1 hit |
Pfami | View protein in Pfam PF13895, Ig_2, 1 hit PF18452, Ig_6, 1 hit PF01582, TIR, 1 hit |
PRINTSi | PR01538, INTRLEUKN1R1 PR01536, INTRLKN1R12F |
SMARTi | View protein in SMART SM00409, IG, 3 hits SM00255, TIR, 1 hit |
SUPFAMi | SSF48726, SSF48726, 3 hits SSF52200, SSF52200, 1 hit |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 3 hits PS50104, TIR, 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 10 potential isoforms that are computationally mapped.Show allAlign All
P14778-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MKVLLRLICF IALLISSLEA DKCKEREEKI ILVSSANEID VRPCPLNPNE
60 70 80 90 100
HKGTITWYKD DSKTPVSTEQ ASRIHQHKEK LWFVPAKVED SGHYYCVVRN
110 120 130 140 150
SSYCLRIKIS AKFVENEPNL CYNAQAIFKQ KLPVAGDGGL VCPYMEFFKN
160 170 180 190 200
ENNELPKLQW YKDCKPLLLD NIHFSGVKDR LIVMNVAEKH RGNYTCHASY
210 220 230 240 250
TYLGKQYPIT RVIEFITLEE NKPTRPVIVS PANETMEVDL GSQIQLICNV
260 270 280 290 300
TGQLSDIAYW KWNGSVIDED DPVLGEDYYS VENPANKRRS TLITVLNISE
310 320 330 340 350
IESRFYKHPF TCFAKNTHGI DAAYIQLIYP VTNFQKHMIG ICVTLTVIIV
360 370 380 390 400
CSVFIYKIFK IDIVLWYRDS CYDFLPIKAS DGKTYDAYIL YPKTVGEGST
410 420 430 440 450
SDCDIFVFKV LPEVLEKQCG YKLFIYGRDD YVGEDIVEVI NENVKKSRRL
460 470 480 490 500
IIILVRETSG FSWLGGSSEE QIAMYNALVQ DGIKVVLLEL EKIQDYEKMP
510 520 530 540 550
ESIKFIKQKH GAIRWSGDFT QGPQSAKTRF WKNVRYHMPV QRRSPSSKHQ
560
LLSPATKEKL QREAHVPLG
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB8ZZW4 | B8ZZW4_HUMAN | Interleukin-1 receptor type 1 | IL1R1 | 538 | Annotation score: | ||
B8ZZ73 | B8ZZ73_HUMAN | Interleukin-1 receptor type 1 | IL1R1 | 447 | Annotation score: | ||
C9J3W8 | C9J3W8_HUMAN | Interleukin-1 receptor type 1 | IL1R1 | 298 | Annotation score: | ||
B9A040 | B9A040_HUMAN | Interleukin-1 receptor type 1 | IL1R1 | 173 | Annotation score: | ||
C9JQ36 | C9JQ36_HUMAN | Interleukin-1 receptor type 1 | IL1R1 | 182 | Annotation score: | ||
C9J686 | C9J686_HUMAN | Interleukin-1 receptor type 1 | IL1R1 | 106 | Annotation score: | ||
C9JWB2 | C9JWB2_HUMAN | Interleukin-1 receptor type 1 | IL1R1 | 114 | Annotation score: | ||
F8WF92 | F8WF92_HUMAN | Interleukin-1 receptor type 1 | IL1R1 | 119 | Annotation score: | ||
H7BZM5 | H7BZM5_HUMAN | Interleukin-1 receptor type 1 | IL1R1 | 124 | Annotation score: | ||
C9JW84 | C9JW84_HUMAN | Interleukin-1 receptor type 1 | IL1R1 | 80 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_019131 | 124 | A → G1 PublicationCorresponds to variant dbSNP:rs2228139Ensembl. | 1 | |
Natural variantiVAR_029189 | 344 | T → M. Corresponds to variant dbSNP:rs28362304Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X16896 mRNA Translation: CAA34773.1 M27492 mRNA Translation: AAA59137.1 AF531102 Genomic DNA Translation: AAM88423.1 AC007271 Genomic DNA Translation: AAX81988.1 CH471127 Genomic DNA Translation: EAX01799.1 BC067506 mRNA Translation: AAH67506.1 BC075062 mRNA Translation: AAH75062.1 BC075063 mRNA Translation: AAH75063.1 |
CCDSi | CCDS2055.1 |
PIRi | A36187 |
RefSeqi | NP_000868.1, NM_000877.3 NP_001275635.1, NM_001288706.1 NP_001307907.1, NM_001320978.1 NP_001307909.1, NM_001320980.1 NP_001307910.1, NM_001320981.1 NP_001307911.1, NM_001320982.1 NP_001307912.1, NM_001320983.1 NP_001307913.1, NM_001320984.1 NP_001307914.1, NM_001320985.1 XP_005263987.1, XM_005263930.4 XP_005263991.1, XM_005263934.4 XP_011509417.1, XM_011511115.2 XP_011509418.1, XM_011511116.1 XP_011509419.1, XM_011511117.1 XP_011509420.1, XM_011511118.2 XP_016859478.1, XM_017003989.1 |
Genome annotation databases
Ensembli | ENST00000410023; ENSP00000386380; ENSG00000115594 |
GeneIDi | 3554 |
KEGGi | hsa:3554 |
UCSCi | uc002tbq.5, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
SeattleSNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X16896 mRNA Translation: CAA34773.1 M27492 mRNA Translation: AAA59137.1 AF531102 Genomic DNA Translation: AAM88423.1 AC007271 Genomic DNA Translation: AAX81988.1 CH471127 Genomic DNA Translation: EAX01799.1 BC067506 mRNA Translation: AAH67506.1 BC075062 mRNA Translation: AAH75062.1 BC075063 mRNA Translation: AAH75063.1 |
CCDSi | CCDS2055.1 |
PIRi | A36187 |
RefSeqi | NP_000868.1, NM_000877.3 NP_001275635.1, NM_001288706.1 NP_001307907.1, NM_001320978.1 NP_001307909.1, NM_001320980.1 NP_001307910.1, NM_001320981.1 NP_001307911.1, NM_001320982.1 NP_001307912.1, NM_001320983.1 NP_001307913.1, NM_001320984.1 NP_001307914.1, NM_001320985.1 XP_005263987.1, XM_005263930.4 XP_005263991.1, XM_005263934.4 XP_011509417.1, XM_011511115.2 XP_011509418.1, XM_011511116.1 XP_011509419.1, XM_011511117.1 XP_011509420.1, XM_011511118.2 XP_016859478.1, XM_017003989.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1G0Y | X-ray | 3.00 | R | 21-332 | [»] | |
1IRA | X-ray | 2.70 | Y | 18-336 | [»] | |
1ITB | X-ray | 2.50 | B | 18-332 | [»] | |
4DEP | X-ray | 3.10 | B/E | 18-336 | [»] | |
4GAF | X-ray | 2.15 | B | 18-336 | [»] | |
SASBDBi | P14778 | |||||
SMRi | P14778 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109770, 29 interactors |
DIPi | DIP-93N |
IntActi | P14778, 15 interactors |
STRINGi | 9606.ENSP00000386380 |
Chemistry databases
BindingDBi | P14778 |
ChEMBLi | CHEMBL1959 |
DrugBanki | DB00026, Anakinra DB10770, Foreskin fibroblast (neonatal) DB05303, OMS-103HP DB05207, SD118 |
DrugCentrali | P14778 |
GuidetoPHARMACOLOGYi | 1734 |
Protein family/group databases
TCDBi | 8.A.23.1.11, the basigin (basigin) family |
PTM databases
GlyGeni | P14778, 6 sites |
iPTMneti | P14778 |
PhosphoSitePlusi | P14778 |
Genetic variation databases
BioMutai | IL1R1 |
DMDMi | 124308 |
Proteomic databases
jPOSTi | P14778 |
MassIVEi | P14778 |
MaxQBi | P14778 |
PaxDbi | P14778 |
PeptideAtlasi | P14778 |
PRIDEi | P14778 |
ProteomicsDBi | 53081 |
Protocols and materials databases
ABCDi | P14778, 16 sequenced antibodies |
Antibodypediai | 3576, 960 antibodies |
Genome annotation databases
Ensembli | ENST00000410023; ENSP00000386380; ENSG00000115594 |
GeneIDi | 3554 |
KEGGi | hsa:3554 |
UCSCi | uc002tbq.5, human |
Organism-specific databases
CTDi | 3554 |
DisGeNETi | 3554 |
GeneCardsi | IL1R1 |
HGNCi | HGNC:5993, IL1R1 |
HPAi | ENSG00000115594, Low tissue specificity |
MIMi | 147810, gene |
neXtProti | NX_P14778 |
OpenTargetsi | ENSG00000115594 |
PharmGKBi | PA29809 |
VEuPathDBi | HostDB:ENSG00000115594.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QWEU, Eukaryota |
GeneTreei | ENSGT01000000214361 |
HOGENOMi | CLU_025552_3_1_1 |
InParanoidi | P14778 |
OMAi | EISGFSW |
OrthoDBi | 1109920at2759 |
PhylomeDBi | P14778 |
TreeFami | TF325519 |
Enzyme and pathway databases
PathwayCommonsi | P14778 |
Reactomei | R-HSA-6783783, Interleukin-10 signaling R-HSA-9020702, Interleukin-1 signaling R-HSA-9679191, Potential therapeutics for SARS |
SignaLinki | P14778 |
SIGNORi | P14778 |
Miscellaneous databases
BioGRID-ORCSi | 3554, 13 hits in 878 CRISPR screens |
ChiTaRSi | IL1R1, human |
EvolutionaryTracei | P14778 |
GeneWikii | Interleukin_1_receptor,_type_I |
GenomeRNAii | 3554 |
Pharosi | P14778, Tclin |
PROi | PR:P14778 |
RNActi | P14778, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000115594, Expressed in palpebral conjunctiva and 237 other tissues |
ExpressionAtlasi | P14778, baseline and differential |
Genevisiblei | P14778, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 3 hits 3.40.50.10140, 1 hit |
InterProi | View protein in InterPro IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR003599, Ig_sub IPR015621, IL-1_rcpt_fam IPR004076, IL-1_rcpt_I-typ IPR004074, IL-1_rcpt_I/II-typ IPR041416, IL-1RAcP-like_ig IPR000157, TIR_dom IPR035897, Toll_tir_struct_dom_sf |
PANTHERi | PTHR11890, PTHR11890, 1 hit |
Pfami | View protein in Pfam PF13895, Ig_2, 1 hit PF18452, Ig_6, 1 hit PF01582, TIR, 1 hit |
PRINTSi | PR01538, INTRLEUKN1R1 PR01536, INTRLKN1R12F |
SMARTi | View protein in SMART SM00409, IG, 3 hits SM00255, TIR, 1 hit |
SUPFAMi | SSF48726, SSF48726, 3 hits SSF52200, SSF52200, 1 hit |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 3 hits PS50104, TIR, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | IL1R1_HUMAN | |
Accessioni | P14778Primary (citable) accession number: P14778 Secondary accession number(s): Q587I7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1990 |
Last sequence update: | April 1, 1990 | |
Last modified: | February 10, 2021 | |
This is version 227 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
3D-structure, Reference proteomeDocuments
- 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - 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 cell differentiation molecules
CD nomenclature of surface proteins of human leucocytes and list of entries