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P42701 (I12R1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 149. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Interleukin-12 receptor subunit beta-1

Short name=IL-12 receptor subunit beta-1
Short name=IL-12R subunit beta-1
Short name=IL-12R-beta-1
Short name=IL-12RB1
Alternative name(s):
IL-12 receptor beta component
CD_antigen=CD212
Gene names
Name:IL12RB1
Synonyms:IL12R, IL12RB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length662 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Functions as an interleukin receptor which binds interleukin-12 with low affinity and is involved in IL12 transduction. Associated with IL12RB2 it forms a functional, high affinity receptor for IL12. Associates also with IL23R to form the interleukin-23 receptor which functions in IL23 signal transduction probably through activation of the Jak-Stat signaling cascade. Ref.9

Subunit structure

Dimer or oligomer; disulfide-linked. Interacts with IL12RB2 to form the high affinity IL12 receptor. Heterodimer with IL23R; in presence of IL23. The heterodimer forms the IL23 receptor. Ref.8 Ref.9

Subcellular location

Membrane; Single-pass type I membrane protein.

Domain

The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.

The box 1 motif is required for JAK interaction and/or activation.

Involvement in disease

Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]: This rare condition confers predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. The pathogenic mechanism underlying MSMD is the impairment of interferon-gamma mediated immunity, whose severity determines the clinical outcome. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10

Sequence similarities

Belongs to the type I cytokine receptor family. Type 2 subfamily.

Contains 5 fibronectin type-III domains.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainRepeat
Signal
Transmembrane
Transmembrane helix
   Molecular functionReceptor
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcellular response to interferon-gamma

Inferred from direct assay Ref.9. Source: BHF-UCL

cytokine-mediated signaling pathway

Traceable author statement Ref.1. Source: BHF-UCL

interleukin-12-mediated signaling pathway

Inferred from direct assay Ref.8. Source: GOC

interleukin-23-mediated signaling pathway

Inferred from direct assay Ref.9. Source: GOC

peptidyl-tyrosine phosphorylation

Inferred from electronic annotation. Source: Ensembl

positive regulation of T cell mediated cytotoxicity

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of T-helper 1 type immune response

Inferred from direct assay PubMed 15114670. Source: BHF-UCL

positive regulation of T-helper 17 cell lineage commitment

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of T-helper 17 type immune response

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of activated T cell proliferation

Inferred from direct assay PubMed 11114383. Source: BHF-UCL

positive regulation of defense response to virus by host

Inferred from direct assay PubMed 12421946. Source: BHF-UCL

positive regulation of interferon-gamma production

Inferred from direct assay PubMed 11114383. Source: BHF-UCL

positive regulation of memory T cell differentiation

Inferred from sequence or structural similarity. Source: BHF-UCL

signal transduction

Inferred by curator Ref.8. Source: BHF-UCL

   Cellular_componentexternal side of plasma membrane

Inferred from electronic annotation. Source: Ensembl

interleukin-12 receptor complex

Inferred from direct assay Ref.9. Source: BHF-UCL

interleukin-23 receptor complex

Inferred from direct assay Ref.9. Source: BHF-UCL

   Molecular_functioncytokine receptor activity

Traceable author statement Ref.8. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P42701-1)

Also known as: Long;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P42701-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     659-662: KAKM → DR
Isoform 3 (identifier: P42701-3)

The sequence of this isoform differs from the canonical sequence as follows:
     341-422: EPVALNISVG...CYYITIFASA → DGMISAHCNL...CHHTRLILYF
     423-662: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Potential
Chain24 – 662639Interleukin-12 receptor subunit beta-1
PRO_0000010917

Regions

Topological domain24 – 545522Extracellular Potential
Transmembrane546 – 57025Helical; Potential
Topological domain571 – 66292Cytoplasmic Potential
Domain46 – 13691Fibronectin type-III 1
Domain142 – 23493Fibronectin type-III 2
Domain237 – 337101Fibronectin type-III 3
Domain338 – 444107Fibronectin type-III 4
Domain448 – 54295Fibronectin type-III 5
Motif222 – 2265WSXWS motif
Motif577 – 5859Box 1 motif

Amino acid modifications

Glycosylation1211N-linked (GlcNAc...) Potential
Glycosylation3291N-linked (GlcNAc...) Potential
Glycosylation3461N-linked (GlcNAc...) Potential
Glycosylation3521N-linked (GlcNAc...) Potential
Glycosylation4421N-linked (GlcNAc...) Potential
Glycosylation4561N-linked (GlcNAc...) Potential
Disulfide bond52 ↔ 62 By similarity

Natural variations

Alternative sequence341 – 42282EPVAL…IFASA → DGMISAHCNLRLPDSRDSPA SASRVAGITGICHHTRLILY F in isoform 3.
VSP_037043
Alternative sequence423 – 662240Missing in isoform 3.
VSP_037044
Alternative sequence659 – 6624KAKM → DR in isoform 2.
VSP_001715
Natural variant31P → Q. Ref.3
Corresponds to variant rs17884651 [ dbSNP | Ensembl ].
VAR_021281
Natural variant471P → S. Ref.3
Corresponds to variant rs17887176 [ dbSNP | Ensembl ].
VAR_021282
Natural variant1561R → H. Ref.3
Corresponds to variant rs11575926 [ dbSNP | Ensembl ].
VAR_021283
Natural variant2131R → W in MSMD. Ref.10
VAR_015577
Natural variant2141Q → R. Ref.3 Ref.7
Corresponds to variant rs11575934 [ dbSNP | Ensembl ].
VAR_021284
Natural variant3391H → Q. Ref.3
Corresponds to variant rs17884957 [ dbSNP | Ensembl ].
VAR_021285
Natural variant3651M → T. Ref.3
Corresponds to variant rs375947 [ dbSNP | Ensembl ].
VAR_011986
Natural variant3781G → R. Ref.3
Corresponds to variant rs401502 [ dbSNP | Ensembl ].
VAR_011987

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified November 1, 1995. Version 1.
Checksum: 541ADA60F62DA1EF

FASTA66273,109
        10         20         30         40         50         60 
MEPLVTWVVP LLFLFLLSRQ GAACRTSECC FQDPPYPDAD SGSASGPRDL RCYRISSDRY 

        70         80         90        100        110        120 
ECSWQYEGPT AGVSHFLRCC LSSGRCCYFA AGSATRLQFS DQAGVSVLYT VTLWVESWAR 

       130        140        150        160        170        180 
NQTEKSPEVT LQLYNSVKYE PPLGDIKVSK LAGQLRMEWE TPDNQVGAEV QFRHRTPSSP 

       190        200        210        220        230        240 
WKLGDCGPQD DDTESCLCPL EMNVAQEFQL RRRQLGSQGS SWSKWSSPVC VPPENPPQPQ 

       250        260        270        280        290        300 
VRFSVEQLGQ DGRRRLTLKE QPTQLELPEG CQGLAPGTEV TYRLQLHMLS CPCKAKATRT 

       310        320        330        340        350        360 
LHLGKMPYLS GAAYNVAVIS SNQFGPGLNQ TWHIPADTHT EPVALNISVG TNGTTMYWPA 

       370        380        390        400        410        420 
RAQSMTYCIE WQPVGQDGGL ATCSLTAPQD PDPAGMATYS WSRESGAMGQ EKCYYITIFA 

       430        440        450        460        470        480 
SAHPEKLTLW STVLSTYHFG GNASAAGTPH HVSVKNHSLD SVSVDWAPSL LSTCPGVLKE 

       490        500        510        520        530        540 
YVVRCRDEDS KQVSEHPVQP TETQVTLSGL RAGVAYTVQV RADTAWLRGV WSQPQRFSIE 

       550        560        570        580        590        600 
VQVSDWLIFF ASLGSFLSIL LVGVLGYLGL NRAARHLCPP LPTPCASSAI EFPGGKETWQ 

       610        620        630        640        650        660 
WINPVDFQEE ASLQEALVVE MSWDKGERTE PLEKTELPEG APELALDTEL SLEDGDRCKA 


KM 

« Hide

Isoform 2 (Short) [UniParc].

Checksum: 93B9662DA1EF27F0
Show »

FASTA66072,921
Isoform 3 [UniParc].

Checksum: 49C915FAD4B667BC
Show »

FASTA38142,366

References

« Hide 'large scale' references
[1]"Expression cloning of a human IL-12 receptor component. A new member of the cytokine receptor superfamily with strong homology to gp130."
Chua A.O., Chizzonite R., Desai B.B., Truitt T.P., Nunes P., Minetti L.J., Warrier R.R., Presky D.H., Levine J.F., Gately M.K., Gubler U.
J. Immunol. 153:128-136(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[2]"Genomic structure of IL12RB1 gene."
Elloumi-Zghal H., Abdelhak S., Dellagi K.
Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]SeattleSNPs variation discovery resource
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLN-3; SER-47; HIS-156; ARG-214; GLN-339; THR-365 AND ARG-378.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Umbilical cord blood.
[5]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT ARG-214.
Tissue: Colon and Testis.
[8]"A functional interleukin 12 receptor complex is composed of two beta-type cytokine receptor subunits."
Presky D.H., Yang H., Minetti L.J., Chua A.O., Nabavi N., Wu C.-Y., Gately M.K., Gubler U.
Proc. Natl. Acad. Sci. U.S.A. 93:14002-14007(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBUNIT.
[9]"A receptor for the heterodimeric cytokine IL-23 is composed of IL-12Rbeta1 and a novel cytokine receptor subunit, IL-23R."
Parham C., Chirica M., Timans J., Vaisberg E., Travis M., Cheung J., Pflanz S., Zhang R., Singh K.P., Vega F., To W., Wagner J., O'Farrell A.-M., McClanahan T.K., Zurawski S., Hannum C., Gorman D., Rennick D.M. expand/collapse author list , Kastelein R.A., de Waal Malefyt R., Moore K.W.
J. Immunol. 168:5699-5708(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH IL23R.
[10]"Interleukin-12 receptor beta-1 deficiency in a patient with abdominal tuberculosis."
Altare F., Ensser A., Breiman A., Reichenbach J., El Baghdadi J., Fischer A., Emile J.-F., Gaillard J.-L., Meinl E., Casanova J.-L.
J. Infect. Dis. 184:231-236(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MSMD TRP-213.
+Additional computationally mapped references.

Web resources

IL12RB1base

IL12RB1 mutation db

SeattleSNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U03187 mRNA. Translation: AAA21340.1.
AJ297688 expand/collapse EMBL AC list , AJ297689, AJ297690, AJ297691, AJ297692, AJ297693, AJ297694, AJ297695, AJ297696, AJ297697, AJ297698, AJ297699, AJ297700, AJ297701 Genomic DNA. Translation: CAC10446.1.
AY771996 Genomic DNA. Translation: AAV28734.1.
AK290423 mRNA. Translation: BAF83112.1.
AC020904 Genomic DNA. No translation available.
CH471106 Genomic DNA. Translation: EAW84656.1.
BC029121 mRNA. Translation: AAH29121.1.
BC137404 mRNA. Translation: AAI37405.1.
BC137406 mRNA. Translation: AAI37407.1.
CCDSCCDS32957.1. [P42701-3]
CCDS54232.1. [P42701-1]
PIRI37892.
RefSeqNP_001276952.1. NM_001290023.1. [P42701-2]
NP_005526.1. NM_005535.2. [P42701-1]
NP_714912.1. NM_153701.2. [P42701-3]
UniGeneHs.567294.

3D structure databases

ProteinModelPortalP42701.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109808. 4 interactions.
DIPDIP-3773N.
IntActP42701. 3 interactions.
STRING9606.ENSP00000314425.

PTM databases

PhosphoSiteP42701.

Polymorphism databases

DMDM1170462.

Proteomic databases

MaxQBP42701.
PaxDbP42701.
PRIDEP42701.

Protocols and materials databases

DNASU3594.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000322153; ENSP00000314425; ENSG00000096996. [P42701-3]
ENST00000593993; ENSP00000472165; ENSG00000096996. [P42701-1]
ENST00000600835; ENSP00000470788; ENSG00000096996. [P42701-1]
GeneID3594.
KEGGhsa:3594.
UCSCuc002nhw.1. human. [P42701-1]
uc002nhy.3. human. [P42701-3]
uc010xqb.1. human. [P42701-2]

Organism-specific databases

CTD3594.
GeneCardsGC19M018170.
HGNCHGNC:5971. IL12RB1.
MIM209950. phenotype.
601604. gene.
neXtProtNX_P42701.
Orphanet319552. Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency.
186. Primary biliary cirrhosis.
PharmGKBPA29786.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42645.
HOGENOMHOG000082476.
HOVERGENHBG052058.
InParanoidP42701.
KOK05063.
OMACPGVLKE.
OrthoDBEOG79KPF9.
PhylomeDBP42701.
TreeFamTF338613.

Enzyme and pathway databases

SignaLinkP42701.

Gene expression databases

ArrayExpressP42701.
BgeeP42701.
CleanExHS_IL12RB1.
GenevestigatorP42701.

Family and domain databases

Gene3D2.60.40.10. 2 hits.
InterProIPR003961. Fibronectin_type3.
IPR003529. Hematopoietin_rcpt_Gp130_CS.
IPR013783. Ig-like_fold.
[Graphical view]
PfamPF00041. fn3. 1 hit.
[Graphical view]
SMARTSM00060. FN3. 1 hit.
[Graphical view]
SUPFAMSSF49265. SSF49265. 1 hit.
PROSITEPS50853. FN3. 3 hits.
PS01353. HEMATOPO_REC_L_F2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiInterleukin_12_receptor,_beta_1_subunit.
GenomeRNAi3594.
NextBio14043.
PROP42701.
SOURCESearch...

Entry information

Entry nameI12R1_HUMAN
AccessionPrimary (citable) accession number: P42701
Secondary accession number(s): A8K308 expand/collapse secondary AC list , B2RPF1, B7ZKK3, Q8N6Q7
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 1, 1995
Last modified: July 9, 2014
This is version 149 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries