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Q9BZH6

- WDR11_HUMAN

UniProt

Q9BZH6 - WDR11_HUMAN

Protein

WD repeat-containing protein 11

Gene

WDR11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    Enzyme and pathway databases

    SignaLinkiQ9BZH6.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    WD repeat-containing protein 11
    Alternative name(s):
    Bromodomain and WD repeat-containing protein 2
    WD repeat-containing protein 15
    Gene namesi
    Name:WDR11
    Synonyms:BRWD2, KIAA1351, WDR15
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:13831. WDR11.

    Subcellular locationi

    Membrane Curated; Single-pass membrane protein Curated. Cytoplasm 1 Publication. Nucleus 1 Publication
    Note: Might be shuttling between the nucleus and the cytoplasm.

    GO - Cellular componenti

    1. cilium Source: Ensembl
    2. cytoplasm Source: MGI
    3. integral component of membrane Source: UniProtKB-KW
    4. lysosomal membrane Source: UniProtKB
    5. membrane Source: UniProtKB
    6. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Membrane, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving WDR11 is found in a form of glioblastoma. Translocation t(10;19)(q26;q13.3) with ZNF320.
    A chromosomal aberration involving WDR11 is found in a form of Kallmann syndrome. Translocation 46,XY,t(10;12)(q26.12;q13.11).
    Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) [MIM:614858]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti395 – 3951R → W in HH14; does not affect the interaction with EMX1; does not affect the subcellular location of the protein. 1 Publication
    Corresponds to variant rs201051480 [ dbSNP | Ensembl ].
    VAR_069194
    Natural varianti435 – 4351A → T in HH14; abolishes the interaction with EMX1; does not affect the subcellular location of the protein. 1 Publication
    Corresponds to variant rs318240760 [ dbSNP | Ensembl ].
    VAR_069195
    Natural varianti448 – 4481R → Q in HH14; reduces the interaction with EMX1; does not affect the subcellular location of the protein. 1 Publication
    Corresponds to variant rs144440500 [ dbSNP | Ensembl ].
    VAR_069196
    Natural varianti690 – 6901H → Q in HH14; abolishes the interaction with EMX1. 1 Publication
    Corresponds to variant rs318240761 [ dbSNP | Ensembl ].
    VAR_069197
    Natural varianti1150 – 11501F → L in HH14; does not affect the subcellular location of the protein. 1 Publication
    Corresponds to variant rs139007744 [ dbSNP | Ensembl ].
    VAR_069199

    Keywords - Diseasei

    Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome, Proto-oncogene

    Organism-specific databases

    MIMi614858. phenotype.
    Orphaneti478. Kallmann syndrome.
    432. Normosmic congenital hypogonadotropic hypogonadism.
    PharmGKBiPA37818.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12241224WD repeat-containing protein 11PRO_0000050889Add
    BLAST

    Proteomic databases

    MaxQBiQ9BZH6.
    PaxDbiQ9BZH6.
    PeptideAtlasiQ9BZH6.
    PRIDEiQ9BZH6.

    PTM databases

    PhosphoSiteiQ9BZH6.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiQ9BZH6.
    BgeeiQ9BZH6.
    CleanExiHS_BRWD2.
    GenevestigatoriQ9BZH6.

    Organism-specific databases

    HPAiHPA038980.

    Interactioni

    Subunit structurei

    Interacts with EMX1 (via the N-terminal and the central portion of the protein. The C-terminus does not.).1 Publication

    Protein-protein interaction databases

    BioGridi120839. 4 interactions.
    IntActiQ9BZH6. 2 interactions.
    STRINGi9606.ENSP00000263461.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BZH6.
    SMRiQ9BZH6. Positions 488-530.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1127 – 114721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati59 – 10850WD 1Add
    BLAST
    Repeati111 – 15444WD 2Add
    BLAST
    Repeati354 – 39340WD 3Add
    BLAST
    Repeati471 – 51040WD 4Add
    BLAST
    Repeati566 – 60540WD 5Add
    BLAST
    Repeati708 – 74538WD 6Add
    BLAST
    Repeati747 – 78741WD 7Add
    BLAST
    Repeati793 – 83139WD 8Add
    BLAST
    Repeati893 – 94048WD 9Add
    BLAST

    Sequence similaritiesi

    Contains 9 WD repeats.Curated

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix, WD repeat

    Phylogenomic databases

    eggNOGiNOG236393.
    HOGENOMiHOG000294084.
    HOVERGENiHBG060317.
    InParanoidiQ9BZH6.
    OMAiVHSCEVK.
    OrthoDBiEOG7ZSHS5.
    PhylomeDBiQ9BZH6.
    TreeFamiTF314830.

    Family and domain databases

    Gene3Di2.130.10.10. 5 hits.
    InterProiIPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF00400. WD40. 1 hit.
    [Graphical view]
    SMARTiSM00320. WD40. 6 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 4 hits.
    PROSITEiPS00678. WD_REPEATS_1. 3 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9BZH6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLPYTVNFKV SARTLTGALN AHNKAAVDWG WQGLIAYGCH SLVVVIDSIT     50
    AQTLQVLEKH KADVVKVKWA RENYHHNIGS PYCLRLASAD VNGKIIVWDV 100
    AAGVAQCEIQ EHAKPIQDVQ WLWNQDASRD LLLAIHPPNY IVLWNADTGT 150
    KLWKKSYADN ILSFSFDPFD PSHLTLLTSE GIVFISDFSP SKPPSGPGKK 200
    VYISSPHSSP AHNKLATATG AKKALNKVKI LITQEKPSAE FITLNDCLQL 250
    AYLPSKRNHM LLLYPREILI LDLEVNQTVG VIAIERTGVP FLQVIPCFQR 300
    DGLFCLHENG CITLRVRRSY NNIFTTSNEE PDPDPVQELT YDLRSQCDAI 350
    RVTKTVRPFS MVCCPVNENA AALVVSDGRV MIWELKSAVC NRNSRNSSSG 400
    VSPLYSPVSF CGIPVGVLQN KLPDLSLDNM IGQSAIAGEE HPRGSILREV 450
    HLKFLLTGLL SGLPAPQFAI RMCPPLTTKN IKMYQPLLAV GTSNGSVLVY 500
    HLTSGLLHKE LSIHSCEVKG IEWTSLTSFL SFATSTPNNM GLVRNELQLV 550
    DLPTGRSIAF RGERGNDESA IEMIKVSHLK QYLAVVFRDK PLELWDVRTC 600
    TLLREMSKNF PTITALEWSP SHNLKSLRKK QLATREAMAR QTVVSDTELS 650
    IVESSVISLL QEAESKSELS QNISAREHFV FTDIDGQVYH LTVEGNSVKD 700
    SARIPPDGSM GSITCIAWKG DTLVLGDMDG NLNFWDLKGR VSRGIPTHRS 750
    WVRKIRFAPG KGNQKLIAMY NDGAEVWDTK EVQMVSSLRS GRNVTFRILD 800
    VDWCTSDKVI LASDDGCIRV LEMSMKSACF RMDEQELTEP VWCPYLLVPR 850
    ASLALKAFLL HQPWNGQYSL DISHVDYPEN EEIKNLLQEQ LNSLSNDIKK 900
    LLLDPEFTLL QRCLLVSRLY GDESELHFWT VAAHYLHSLS QEKSASTTAP 950
    KEAAPRDKLS NPLDICYDVL CENAYFQKFQ LERVNLQEVK RSTYDHTRKC 1000
    TDQLLLLGQT DRAVQLLLET SADNQHYYCD SLKACLVTTV TSSGPSQSTI 1050
    KLVATNMIAN GKLAEGVQLL CLIDKAADAC RYLQTYGEWN RAAWLAKVRL 1100
    NPEECADVLR RWVDHLCSPQ VNQKSKALLV LLSLGCFFSV AETLHSMRYF 1150
    DRAALFVEAC LKYGAFEVTE DTEKLITAIY ADYARSLKNL GFKQGAVLFA 1200
    SKAGAAGKDL LNELESPKEE PIEE 1224
    Length:1,224
    Mass (Da):136,685
    Last modified:June 1, 2001 - v1
    Checksum:i918221ABEAEFB4ED
    GO

    Sequence cautioni

    The sequence BAA92589.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti395 – 3951R → W in HH14; does not affect the interaction with EMX1; does not affect the subcellular location of the protein. 1 Publication
    Corresponds to variant rs201051480 [ dbSNP | Ensembl ].
    VAR_069194
    Natural varianti435 – 4351A → T in HH14; abolishes the interaction with EMX1; does not affect the subcellular location of the protein. 1 Publication
    Corresponds to variant rs318240760 [ dbSNP | Ensembl ].
    VAR_069195
    Natural varianti448 – 4481R → Q in HH14; reduces the interaction with EMX1; does not affect the subcellular location of the protein. 1 Publication
    Corresponds to variant rs144440500 [ dbSNP | Ensembl ].
    VAR_069196
    Natural varianti690 – 6901H → Q in HH14; abolishes the interaction with EMX1. 1 Publication
    Corresponds to variant rs318240761 [ dbSNP | Ensembl ].
    VAR_069197
    Natural varianti978 – 9781K → Q.1 Publication
    Corresponds to variant rs144531702 [ dbSNP | Ensembl ].
    VAR_069198
    Natural varianti1150 – 11501F → L in HH14; does not affect the subcellular location of the protein. 1 Publication
    Corresponds to variant rs139007744 [ dbSNP | Ensembl ].
    VAR_069199

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF320223 mRNA. Translation: AAK08064.1.
    AB037772 mRNA. Translation: BAA92589.2. Different initiation.
    AL391425, AC010998 Genomic DNA. Translation: CAH72488.1.
    BC040469 mRNA. Translation: AAH40469.1.
    BC071564 mRNA. Translation: AAH71564.1.
    CCDSiCCDS7619.1.
    RefSeqiNP_060587.8. NM_018117.11.
    UniGeneiHs.144447.

    Genome annotation databases

    EnsembliENST00000263461; ENSP00000263461; ENSG00000120008.
    GeneIDi55717.
    KEGGihsa:55717.
    UCSCiuc001lfd.1. human.

    Polymorphism databases

    DMDMi17368715.

    Keywords - Coding sequence diversityi

    Chromosomal rearrangement

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF320223 mRNA. Translation: AAK08064.1 .
    AB037772 mRNA. Translation: BAA92589.2 . Different initiation.
    AL391425 , AC010998 Genomic DNA. Translation: CAH72488.1 .
    BC040469 mRNA. Translation: AAH40469.1 .
    BC071564 mRNA. Translation: AAH71564.1 .
    CCDSi CCDS7619.1.
    RefSeqi NP_060587.8. NM_018117.11.
    UniGenei Hs.144447.

    3D structure databases

    ProteinModelPortali Q9BZH6.
    SMRi Q9BZH6. Positions 488-530.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120839. 4 interactions.
    IntActi Q9BZH6. 2 interactions.
    STRINGi 9606.ENSP00000263461.

    PTM databases

    PhosphoSitei Q9BZH6.

    Polymorphism databases

    DMDMi 17368715.

    Proteomic databases

    MaxQBi Q9BZH6.
    PaxDbi Q9BZH6.
    PeptideAtlasi Q9BZH6.
    PRIDEi Q9BZH6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263461 ; ENSP00000263461 ; ENSG00000120008 .
    GeneIDi 55717.
    KEGGi hsa:55717.
    UCSCi uc001lfd.1. human.

    Organism-specific databases

    CTDi 55717.
    GeneCardsi GC10P122600.
    HGNCi HGNC:13831. WDR11.
    HPAi HPA038980.
    MIMi 606417. gene.
    614858. phenotype.
    neXtProti NX_Q9BZH6.
    Orphaneti 478. Kallmann syndrome.
    432. Normosmic congenital hypogonadotropic hypogonadism.
    PharmGKBi PA37818.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG236393.
    HOGENOMi HOG000294084.
    HOVERGENi HBG060317.
    InParanoidi Q9BZH6.
    OMAi VHSCEVK.
    OrthoDBi EOG7ZSHS5.
    PhylomeDBi Q9BZH6.
    TreeFami TF314830.

    Enzyme and pathway databases

    SignaLinki Q9BZH6.

    Miscellaneous databases

    GeneWikii BRWD2.
    GenomeRNAii 55717.
    NextBioi 60607.
    PROi Q9BZH6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BZH6.
    Bgeei Q9BZH6.
    CleanExi HS_BRWD2.
    Genevestigatori Q9BZH6.

    Family and domain databases

    Gene3Di 2.130.10.10. 5 hits.
    InterProi IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF00400. WD40. 1 hit.
    [Graphical view ]
    SMARTi SM00320. WD40. 6 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 4 hits.
    PROSITEi PS00678. WD_REPEATS_1. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells."
      Chernova O.B., Hunyadi A., Malaj E., Pan H., Crooks C., Roe B., Cowell J.K.
      Oncogene 20:5378-5392(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHROMOSOMAL TRANSLOCATION WITH ZNF320.
    2. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    4. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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].
      Tissue: Placenta.
    6. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome."
      Kim H.G., Ahn J.W., Kurth I., Ullmann R., Kim H.T., Kulharya A., Ha K.S., Itokawa Y., Meliciani I., Wenzel W., Lee D., Rosenberger G., Ozata M., Bick D.P., Sherins R.J., Nagase T., Tekin M., Kim S.H.
      , Kim C.H., Ropers H.H., Gusella J.F., Kalscheuer V., Choi C.Y., Layman L.C.
      Am. J. Hum. Genet. 87:465-479(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, CHROMOSOMAL TRANSLOCATION, INTERACTION WITH EMX1, VARIANTS HH14 TRP-395; THR-435; GLN-448; GLN-690 AND LEU-1150, VARIANT GLN-978, CHARACTERIZATION OF VARIANTS HH14 TRP-395; THR-435; GLN-448; GLN-690 AND LEU-1150.
    9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiWDR11_HUMAN
    AccessioniPrimary (citable) accession number: Q9BZH6
    Secondary accession number(s): Q5VWA1, Q9P2J6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 16, 2001
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 121 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3