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Q29974 (2B1G_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
HLA class II histocompatibility antigen, DRB1-16 beta chain
Alternative name(s):
MHC class II antigen DRB1*16
Short name=DR-16
Short name=DR16
Gene names
Name:HLA-DRB1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length266 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.

Subunit structure

Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding of antigenic peptides.

Subcellular location

Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatustrans-Golgi network membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Late endosome membrane; Single-pass type I membrane protein. Note: The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation. Ref.19

Post-translational modification

Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II Probable. Ref.19

Polymorphism

The following alleles of DRB1-16 are known: DRB1*16:01; DRB1*16:02; DRB1*16:03; DRB1*16:04; DRB1*16:05; DRB1*16:07; DRB1*16:08; DRB1*16:09; DRB1*16:10; DRB1*16:11 and DRB1*16:12. The sequence shown is that of DRB1*16:02.

Sequence similarities

Belongs to the MHC class II family.

Contains 1 Ig-like C1-type (immunoglobulin-like) domain.

Ontologies

Keywords
   Biological processImmunity
   Cellular componentCell membrane
Endoplasmic reticulum
Endosome
Golgi apparatus
Lysosome
Membrane
MHC II
   Coding sequence diversityPolymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
Isopeptide bond
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processT cell costimulation

Traceable author statement. Source: Reactome

T cell receptor signaling pathway

Traceable author statement. Source: Reactome

T-helper 1 type immune response

Inferred from sequence or structural similarity. Source: UniProtKB

antigen processing and presentation of exogenous peptide antigen via MHC class II

Traceable author statement. Source: Reactome

cytokine-mediated signaling pathway

Traceable author statement. Source: Reactome

detection of bacterium

Inferred from sequence or structural similarity. Source: UniProtKB

humoral immune response mediated by circulating immunoglobulin

Inferred from sequence or structural similarity. Source: UniProtKB

immune response

Inferred from sequence or structural similarity. Source: UniProtKB

immunoglobulin production involved in immunoglobulin mediated immune response

Inferred from sequence or structural similarity. Source: UniProtKB

inflammatory response to antigenic stimulus

Inferred from sequence or structural similarity. Source: UniProtKB

interferon-gamma-mediated signaling pathway

Traceable author statement. Source: Reactome

negative regulation of T cell proliferation

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of interferon-gamma production

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of insulin secretion involved in cellular response to glucose stimulus

Inferred from sequence or structural similarity. Source: UniProtKB

protein tetramerization

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of interleukin-10 secretion

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of interleukin-4 production

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentER to Golgi transport vesicle membrane

Traceable author statement. Source: Reactome

Golgi membrane

Traceable author statement. Source: Reactome

MHC class II protein complex

Inferred from electronic annotation. Source: UniProtKB-KW

clathrin-coated endocytic vesicle membrane

Traceable author statement. Source: Reactome

endocytic vesicle membrane

Traceable author statement. Source: Reactome

external side of plasma membrane

Inferred from sequence or structural similarity. Source: UniProtKB

integral component of lumenal side of endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

late endosome membrane

Inferred from direct assay Ref.19. Source: UniProtKB

lysosomal membrane

Inferred from direct assay Ref.19. Source: UniProtKB

membrane

Non-traceable author statement Ref.2. Source: UniProtKB

plasma membrane

Traceable author statement. Source: Reactome

trans-Golgi network membrane

Traceable author statement. Source: Reactome

transport vesicle membrane

Traceable author statement. Source: Reactome

   Molecular_functionMHC class II receptor activity

Non-traceable author statement Ref.2. Source: UniProtKB

peptide antigen binding

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2929 Potential
Chain30 – 266237HLA class II histocompatibility antigen, DRB1-16 beta chain
PRO_0000391833

Regions

Transmembrane228 – 24821Helical; Potential
Domain126 – 21489Ig-like C1-type

Amino acid modifications

Glycosylation481N-linked (GlcNAc...) Potential
Disulfide bond146 ↔ 202 By similarity
Cross-link254Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity

Natural variations

Natural variant421R → K in allele DRB1*16:12.
VAR_062840
Natural variant431E → K in allele DRB1*16:11.
VAR_062841
Natural variant561L → P in allele DRB1*16:07.
VAR_062842
Natural variant661S → N in allele DRB1*16:08.
VAR_062843
Natural variant761Y → F in allele DRB1*16:09 and allele DRB1*16:10.
VAR_062844
Natural variant961F → I in allele DRB1*16:05 and allele DRB1*16:07.
VAR_062845
Natural variant961F → L in allele DRB1*16:02, allele DRB1*16:10, allele DRB1*16:11 and allele DRB1*16:12.
VAR_062846
Natural variant1011R → A in allele DRB1*16:03; requires 2 nucleotide substitutions.
VAR_062847
Natural variant1031A → L in allele DRB1*16:04; requires 2 nucleotide substitutions.
VAR_062848
Natural variant2621T → R.
Corresponds to variant rs9269744 [ dbSNP | Ensembl ].
VAR_062849

Sequences

Sequence LengthMass (Da)Tools
Q29974 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 871CC341692ECA4D

FASTA26630,030
        10         20         30         40         50         60 
MVCLKLPGGS CMTALTVTLM VLSSPLALAG DTRPRFLWQP KRECHFFNGT ERVRFLDRYF 

        70         80         90        100        110        120 
YNQEESVRFD SDVGEYRAVT ELGRPDAEYW NSQKDFLEDR RAAVDTYCRH NYGVGESFTV 

       130        140        150        160        170        180 
QRRVQPKVTV YPSKTQPLQH HNLLVCSVSG FYPGSIEVRW FLNGQEEKAG MVSTGLIQNG 

       190        200        210        220        230        240 
DWTFQTLVML ETVPRSGEVY TCQVEHPSVT SPLTVEWRAR SESAQSKMLS GVGGFVLGLL 

       250        260 
FLGAGLFIYF RNQKGHSGLQ PTGFLS 

« Hide

References

« Hide 'large scale' references
[1]"cDNA cloning and sequencing reveals that the electrophoretically constant DR beta 2 molecules, as well as the variable DR beta 1 molecules, from HLA-DR2 subtypes have different amino acid sequences including a hypervariable region for a functionally important epitope."
Wu S.K., Yabe T., Madden M., Saunders T.L., Bach F.H.
J. Immunol. 138:2953-2959(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE DRB1*16:01).
[2]"Molecular studies of a rare DR2/LD-5a/DQw3 HLA class II haplotype. Multiple genetic mechanisms in the generation of polymorphic HLA class II genes."
Liu C.P., Bach F.H., Wu S.K.
J. Immunol. 140:3631-3639(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE DRB1*16:02).
[3]"A novel HLA-DRB1-DR2 allele associated with HLA mistyping."
Rosenlicht J.W., Hartung K., Deicher H., Frey J.
Immunogenetics 37:479-479(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE DRB1*16:03).
Tissue: Blood.
[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] (ALLELE DRB1*16:01).
Tissue: Small intestine.
[5]"HLA-DR2 subtypes form an additional supertypic family of DR beta alleles."
Lee B.S.M., Rust N.A., McMichael A.J., McDevitt H.O.
Proc. Natl. Acad. Sci. U.S.A. 84:4591-4595(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 30-266 (ALLELE DRB1*16:01).
[6]"The nature of diversity of HLA-DRB1 exon 3."
Horn P.A., Albis-Camps M., Verboom M., Bunce M., Yousaf K., Williams S., Blasczyk R.
Tissue Antigens 70:335-337(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 35-216 (ALLELE DRB1*16:04).
Tissue: Peripheral blood.
[7]"HLA-DRB1*1608: a new HLA-DRB1*16 allele with a short DRB1*03 sequence."
Reviron D., Dormoy A., Andre M., Froelich N., Roudier J., Tongio M.M., Mercier P.
Immunogenetics 46:444-445(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 35-123 (ALLELE DRB1*16:08).
[8]"A novel HLA allele, DRB1*1609, identified in the Chinese Han population*."
Miao K.R., Pan Q.Q., Xue M., Zhou X.Y., Fei X.M., Tang Y.H., Xu R., Zhang J.W., Zhao X., Osowski L., Shi W.X., Xu A.L., Wang C.Y., Kukuruga D.
Tissue Antigens 66:248-250(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 35-123 (ALLELE DRB1*16:09).
[9]"A novel HLA-DRB1 allele, DRB*1611, is identified in two Taiwanese individuals."
Chu C.-C., Lee H.-L., Lin M.
Tissue Antigens 74:175-176(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 35-123 (ALLELE DRB1*16:11).
[10]"Novel HLA-DRB1 allele."
Gedil M.A., Steiner N.K., Hurley C.K.
Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 35-123 (ALLELE DRB1*16:05).
[11]"Identification a novel HLA-DRB1*16 allele by sequence based typing in Chinese."
Yan L., Zhu F., He J.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 35-123 (ALLELE DRB1*16:10).
[12]"Novel HLA class II allele."
Lazaro A.M., Xiao Y., Hurley C.K.
Submitted (JUL-2007) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 35-123 (ALLELE DRB1*16:12).
[13]"Two DR2-associated novel alleles arose from the silent mutation of codon 72: DRB1*16012, DRB5*01012."
Lin Y.S., Tang T.F., Ng J., Hartzman R., Hurley C.K.
Tissue Antigens 54:405-408(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 35-119 (ALLELE DRB1*16:01).
Tissue: Blood.
[14]Brautbar C., Israel S., Safirman C., Smith A.G.
Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 39-120 (ALLELE DRB1*16:07).
[15]"Invariant chain structure and MHC class II function."
Cresswell P.
Cell 84:505-507(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[16]"Presentation of antigens by MHC class II molecules: getting the most out of them."
Villadangos J.A.
Mol. Immunol. 38:329-346(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[17]"Autophagy in MHC class II presentation: sampling from within."
Menendez-Benito V., Neefjes J.
Immunity 26:1-3(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[18]"MHC class II molecules on the move for successful antigen presentation."
Rocha N., Neefjes J.
EMBO J. 27:1-5(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[19]"MHC class II stabilization at the surface of human dendritic cells is the result of maturation-dependent MARCH I down-regulation."
De Gassart A., Camosseto V., Thibodeau J., Ceppi M., Catalan N., Pierre P., Gatti E.
Proc. Natl. Acad. Sci. U.S.A. 105:3491-3496(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: UBIQUITINATION BY MARCH1, SUBCELLULAR LOCATION.
[20]"MHC class II transport at a glance."
Berger A.C., Roche P.A.
J. Cell Sci. 122:1-4(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[21]"CD74 in antigen presentation, inflammation, and cancers of the gastrointestinal tract."
Beswick E.J., Reyes V.E.
World J. Gastroenterol. 15:2855-2861(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M28583 mRNA. Translation: AAA59680.1.
M20504 mRNA. Translation: AAA59827.1.
L02545 mRNA. Translation: AAA59777.1.
AK291987 mRNA. Translation: BAF84676.1.
M16959 mRNA. Translation: AAA36281.1.
AM110006 Genomic DNA. Translation: CAJ33613.1.
Z72424 Genomic DNA. No translation available.
AY912074 Genomic DNA. Translation: AAY17287.1.
DQ837166 Genomic DNA. Translation: ABH05946.1.
AY428805 Genomic DNA. Translation: AAR07616.1.
DQ192647 Genomic DNA. Translation: ABA39176.1.
EU029801 Genomic DNA. Translation: ABU86860.1.
U59686 Genomic DNA. Translation: AAB52230.1.
U26659 Genomic DNA. Translation: AAD09441.1.
PIRB27618.
D25239.
F27060.
I54509.
RefSeqNP_002115.2. NM_002124.3.
UniGeneHs.485130.
Hs.534322.
Hs.696211.
Hs.716081.
Hs.723344.
Hs.736560.

3D structure databases

ProteinModelPortalQ29974.
SMRQ29974. Positions 32-222.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109368. 15 interactions.

Polymorphism databases

DMDM74762149.

Proteomic databases

PRIDEQ29974.

Protocols and materials databases

DNASU3123.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000360004; ENSP00000353099; ENSG00000196126.
GeneID3123.
KEGGhsa:3123.

Organism-specific databases

CTD3123.
GeneCardsGC06M032546.
HGNCHGNC:4948. HLA-DRB1.
HPACAB015400.
CAB034021.
MIM142857. gene.
neXtProtNX_Q29974.
GenAtlasSearch...

Phylogenomic databases

HOVERGENHBG012730.
KOK06752.
TreeFamTF336626.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

ArrayExpressQ29974.
BgeeQ29974.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
3.10.320.10. 1 hit.
InterProIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003006. Ig/MHC_CS.
IPR003597. Ig_C1-set.
IPR011162. MHC_I/II-like_Ag-recog.
IPR014745. MHC_II_a/b_N.
IPR000353. MHC_II_b_N.
[Graphical view]
PfamPF07654. C1-set. 1 hit.
PF00969. MHC_II_beta. 1 hit.
[Graphical view]
ProDomPD000328. MHC_II_b_N. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00407. IGc1. 1 hit.
SM00921. MHC_II_beta. 1 hit.
[Graphical view]
SUPFAMSSF54452. SSF54452. 1 hit.
PROSITEPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHLA-DRB1. human.
GenomeRNAi3123.
NextBio12394.
SOURCESearch...

Entry information

Entry name2B1G_HUMAN
AccessionPrimary (citable) accession number: Q29974
Secondary accession number(s): A7X5J4 expand/collapse secondary AC list , O98212, Q0PGR5, Q29792, Q30120, Q30159, Q30200, Q3HUP9, Q3KTM1, Q3LA84, Q6T865, Q95383
Entry history
Integrated into UniProtKB/Swiss-Prot: March 2, 2010
Last sequence update: November 1, 1996
Last modified: April 16, 2014
This is version 107 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 6

Human chromosome 6: entries, gene names and cross-references to MIM