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P15391 (CD19_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 157. 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:
B-lymphocyte antigen CD19
Alternative name(s):
B-lymphocyte surface antigen B4
Differentiation antigen CD19
T-cell surface antigen Leu-12
CD_antigen=CD19
Gene names
Name:CD19
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length556 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Assembles with the antigen receptor of B-lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation.

Subunit structure

Forms a complex with CD21, CD81 and CD225 in the membrane of mature B-cells. Interacts with VAV. Interacts with GRB2 and SOS when phosphorylated on Tyr-348 and/or Tyr-378. Interacts with PLCG2 when phosphorylated on Tyr-409. Interacts with LYN. Ref.11 Ref.13

Subcellular location

Membrane; Single-pass type I membrane protein.

Post-translational modification

Phosphorylated on serine and threonine upon DNA damage, probably by ATM or ATR. Phosphorylated on tyrosine following B-cell activation. Phosphorylated on tyrosine residues by LYN. Ref.11 Ref.12 Ref.13

Involvement in disease

Immunodeficiency, common variable, 3 (CVID3) [MIM:613493]: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14

Sequence similarities

Contains 2 Ig-like C2-type (immunoglobulin-like) domains.

Sequence caution

The sequence AAA35533.1 differs from that shown. Reason: Frameshift at position 396.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainImmunoglobulin domain
Repeat
Signal
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processB cell receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

Fc-epsilon receptor signaling pathway

Traceable author statement. Source: Reactome

cell surface receptor signaling pathway

Traceable author statement PubMed 1714482. Source: ProtInc

cellular defense response

Traceable author statement PubMed 1373518. Source: ProtInc

epidermal growth factor receptor signaling pathway

Traceable author statement. Source: Reactome

fibroblast growth factor receptor signaling pathway

Traceable author statement. Source: Reactome

innate immune response

Traceable author statement. Source: Reactome

neurotrophin TRK receptor signaling pathway

Traceable author statement. Source: Reactome

phosphatidylinositol-mediated signaling

Traceable author statement. Source: Reactome

regulation of immune response

Traceable author statement. Source: Reactome

   Cellular_componentexternal side of plasma membrane

Inferred from direct assay PubMed 17213291PubMed 20660734. Source: MGI

extracellular vesicular exosome

Inferred from direct assay PubMed 20458337. Source: UniProt

integral component of plasma membrane

Traceable author statement Ref.2. Source: ProtInc

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionreceptor signaling protein activity

Traceable author statement PubMed 1373518. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P15391-1)

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: P15391-2)

The sequence of this isoform differs from the canonical sequence as follows:
     495-495: L → LA
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Chain20 – 556537B-lymphocyte antigen CD19
PRO_0000014648

Regions

Topological domain20 – 291272Extracellular Potential
Transmembrane292 – 31322Helical; Potential
Topological domain314 – 556243Cytoplasmic Potential
Domain20 – 11394Ig-like C2-type 1
Domain176 – 277102Ig-like C2-type 2

Amino acid modifications

Modified residue2271Phosphoserine By similarity
Modified residue3481Phosphotyrosine Ref.13
Modified residue3781Phosphotyrosine Ref.13
Modified residue4091Phosphotyrosine Ref.13
Modified residue4391Phosphotyrosine Ref.13
Modified residue4971Phosphoserine
Glycosylation861N-linked (GlcNAc...) Potential
Glycosylation1251N-linked (GlcNAc...) Potential
Glycosylation1381N-linked (GlcNAc...) Potential
Glycosylation1811N-linked (GlcNAc...) Potential
Glycosylation2651N-linked (GlcNAc...) Potential
Disulfide bond38 ↔ 97 Potential
Disulfide bond200 ↔ 261 Potential

Natural variations

Alternative sequence4951L → LA in isoform 2.
VSP_047194
Natural variant1741L → V. Ref.1 Ref.2 Ref.3 Ref.4 Ref.5 Ref.6 Ref.7 Ref.9
Corresponds to variant rs2904880 [ dbSNP | Ensembl ].
VAR_026963
Natural variant5141R → H. Ref.1 Ref.2
Corresponds to variant rs34763945 [ dbSNP | Ensembl ].
VAR_036987

Experimental info

Sequence conflict291E → EG in AAB60697. Ref.4
Sequence conflict801I → S in AAA68490. Ref.2
Sequence conflict801I → S in AAA69966. Ref.3
Sequence conflict801I → S in AAB60697. Ref.4
Sequence conflict801I → S in BAB60954. Ref.5
Sequence conflict1861Q → QAFLVLSLPVP in AAA69966. Ref.3

Sequences

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

Last modified November 13, 2007. Version 6.
Checksum: A0E08DD628B69E51

FASTA55661,128
        10         20         30         40         50         60 
MPPPRLLFFL LFLTPMEVRP EEPLVVKVEE GDNAVLQCLK GTSDGPTQQL TWSRESPLKP 

        70         80         90        100        110        120 
FLKLSLGLPG LGIHMRPLAI WLFIFNVSQQ MGGFYLCQPG PPSEKAWQPG WTVNVEGSGE 

       130        140        150        160        170        180 
LFRWNVSDLG GLGCGLKNRS SEGPSSPSGK LMSPKLYVWA KDRPEIWEGE PPCLPPRDSL 

       190        200        210        220        230        240 
NQSLSQDLTM APGSTLWLSC GVPPDSVSRG PLSWTHVHPK GPKSLLSLEL KDDRPARDMW 

       250        260        270        280        290        300 
VMETGLLLPR ATAQDAGKYY CHRGNLTMSF HLEITARPVL WHWLLRTGGW KVSAVTLAYL 

       310        320        330        340        350        360 
IFCLCSLVGI LHLQRALVLR RKRKRMTDPT RRFFKVTPPP GSGPQNQYGN VLSLPTPTSG 

       370        380        390        400        410        420 
LGRAQRWAAG LGGTAPSYGN PSSDVQADGA LGSRSPPGVG PEEEEGEGYE EPDSEEDSEF 

       430        440        450        460        470        480 
YENDSNLGQD QLSQDGSGYE NPEDEPLGPE DEDSFSNAES YENEDEELTQ PVARTMDFLS 

       490        500        510        520        530        540 
PHGSAWDPSR EATSLGSQSY EDMRGILYAA PQLRSIRGQP GPNHEEDADS YENMDNPDGP 

       550 
DPAWGGGGRM GTWSTR 

« Hide

Isoform 2 [UniParc].

Checksum: 49A39D679F6C6C9A
Show »

FASTA55761,200

References

« Hide 'large scale' references
[1]"CD19, the earliest differentiation antigen of the B cell lineage, bears three extracellular immunoglobulin-like domains and an Epstein-Barr virus-related cytoplasmic tail."
Stamenkovic I., Seed B.
J. Exp. Med. 168:1205-1210(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS VAL-174 AND HIS-514.
[2]"Isolation of cDNAs encoding the CD19 antigen of human and mouse B lymphocytes. A new member of the immunoglobulin superfamily."
Tedder T.F., Isaacs C.M.
J. Immunol. 143:712-717(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS VAL-174 AND HIS-514.
Tissue: Tonsil.
[3]"The promoter of the CD19 gene is a target for the B-cell-specific transcription factor BSAP."
Kozmik Z., Wang S., Doerfler P., Adams B., Busslinger M.
Mol. Cell. Biol. 12:2662-2672(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-174.
[4]"Structure of the genes encoding the CD19 antigen of human and mouse B lymphocytes."
Zhou L.J., Ord D.C., Omori S.A., Tedder T.F.
Immunogenetics 35:102-111(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-174.
Tissue: Blood.
[5]"Polymorphisms of human CD19 gene: possible association with susceptibility to systemic lupus erythematosus in Japanese."
Kuroki K., Tsuchiya N., Tsao B.P., Grossman J.M., Fukazawa T., Hagiwara K., Kano H., Takazoe M., Iwata T., Hashimoto H., Tokunaga K.
Genes Immun. 3:S21-S30(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-174.
[6]"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 2), VARIANT VAL-174.
Tissue: Spleen.
[7]Livingston R.J., Shaffer T., McFarland I., Nguyen C.P., Stanaway I.B., Rajkumar N., Johnson E.J., da Ponte S.H., Willa H., Ahearn M.O., Bertucci C., Acklestad J., Carroll A., Swanson J., Gildersleeve H.I., Nickerson D.A.
Submitted (OCT-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-174.
[8]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]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], VARIANT VAL-174.
[10]"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 [MRNA] (ISOFORM 1).
Tissue: B-cell.
[11]"CD19 is a substrate of the antigen receptor-associated protein tyrosine kinase in human B cells."
Roifman C.M., Ke S.
Biochem. Biophys. Res. Commun. 194:222-225(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION, INTERACTION WITH LYN.
[12]"Tyrosine phosphorylation of CD19 in pre-B and mature B cells."
Chalupny N.J., Kanner S.B., Schieven G.L., Wee S., Gilliland L.K., Aruffo A., Ledbetter J.A.
EMBO J. 12:2691-2696(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION.
[13]"Systematic analysis of the role of CD19 cytoplasmic tyrosines in enhancement of activation in Daudi human B cells: clustering of phospholipase C and Vav and of Grb2 and Sos with different CD19 tyrosines."
Brooks S.R., Li X., Volanakis E.J., Carter R.H.
J. Immunol. 164:3123-3131(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH GRB2; SOS; VAV AND PLCG2, PHOSPHORYLATION AT TYR-348; TYR-378; TYR-409 AND TYR-439.
[14]"An antibody-deficiency syndrome due to mutations in the CD19 gene."
van Zelm M.C., Reisli I., van der Burg M., Castano D., van Noesel C.J.M., van Tol M.J.D., Woellner C., Grimbacher B., Patino P.J., van Dongen J.J.M., Franco J.L.
N. Engl. J. Med. 354:1901-1912(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CVID3.
[15]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
+Additional computationally mapped references.

Web resources

CD19base

CD19 mutation db

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M21097 mRNA. Translation: AAA35533.1. Frameshift.
M28170 mRNA. Translation: AAA68490.1.
M84371 Genomic DNA. Translation: AAA69966.1.
M62550 expand/collapse EMBL AC list , M62544, M62545, M62546, M62547, M62548, M62549 Genomic DNA. Translation: AAB60697.1.
AB052799 Genomic DNA. Translation: BAB60954.1.
AK313577 mRNA. No translation available.
EF064757 Genomic DNA. Translation: ABK41940.1.
AC109460 Genomic DNA. No translation available.
CH471267 Genomic DNA. Translation: EAW52012.1.
BC006338 mRNA. Translation: AAH06338.1.
CCDSCCDS10644.1. [P15391-1]
CCDS53998.1. [P15391-2]
PIRA44441.
RefSeqNP_001171569.1. NM_001178098.1. [P15391-2]
NP_001761.3. NM_001770.5. [P15391-1]
UniGeneHs.652262.

3D structure databases

ProteinModelPortalP15391.
SMRP15391. Positions 23-56, 186-262.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107368. 12 interactions.
IntActP15391. 6 interactions.
MINTMINT-1508267.
STRING9606.ENSP00000313419.

PTM databases

PhosphoSiteP15391.

Polymorphism databases

DMDM160332376.

Proteomic databases

PaxDbP15391.
PRIDEP15391.

Protocols and materials databases

DNASU930.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000324662; ENSP00000313419; ENSG00000177455. [P15391-1]
ENST00000538922; ENSP00000437940; ENSG00000177455. [P15391-2]
ENST00000567541; ENSP00000456201; ENSG00000177455. [P15391-2]
GeneID930.
KEGGhsa:930.
UCSCuc002drs.3. human. [P15391-1]

Organism-specific databases

CTD930.
GeneCardsGC16P028943.
GeneReviewsCD19.
HGNCHGNC:1633. CD19.
HPACAB016110.
MIM107265. gene.
613493. phenotype.
neXtProtNX_P15391.
Orphanet1572. Common variable immunodeficiency.
PharmGKBPA26192.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG46561.
HOGENOMHOG000111478.
HOVERGENHBG003388.
InParanoidP15391.
KOK06465.
OMASPHGSAW.
OrthoDBEOG74N5GS.
PhylomeDBP15391.
TreeFamTF338293.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_116125. Disease.
REACT_6900. Immune System.
SignaLinkP15391.

Gene expression databases

ArrayExpressP15391.
BgeeP15391.
CleanExHS_CD19.
GenevestigatorP15391.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
[Graphical view]
SMARTSM00409. IG. 2 hits.
[Graphical view]
PROSITEPS50835. IG_LIKE. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCD19.
GenomeRNAi930.
NextBio3856.
PROP15391.
SOURCESearch...

Entry information

Entry nameCD19_HUMAN
AccessionPrimary (citable) accession number: P15391
Secondary accession number(s): A0N0P9 expand/collapse secondary AC list , F5H635, Q96S68, Q9BRD6
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: November 13, 2007
Last modified: July 9, 2014
This is version 157 of the entry and version 6 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 16

Human chromosome 16: entries, gene names and cross-references to MIM

Human cell differentiation molecules

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