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Q9UGN4

- CLM8_HUMAN

UniProt

Q9UGN4 - CLM8_HUMAN

Protein

CMRF35-like molecule 8

Gene

CD300A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (20 Feb 2007)
      Previous versions | rss
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    Functioni

    Inhibitory receptor which may contribute to the down-regulation of cytolytic activity in natural killer (NK) cells, and to the down-regulation of mast cell degranulation.3 Publications

    GO - Molecular functioni

    1. phosphatidylethanolamine binding Source: UniProt
    2. phosphatidylserine binding Source: UniProt
    3. protein binding Source: UniProt
    4. signaling receptor activity Source: UniProt

    GO - Biological processi

    1. cell adhesion Source: UniProtKB-KW
    2. immune system process Source: UniProtKB-KW
    3. negative regulation of activation of JAK2 kinase activity Source: UniProt
    4. negative regulation of B cell proliferation Source: UniProt
    5. negative regulation of B cell receptor signaling pathway Source: UniProt
    6. negative regulation of eosinophil activation Source: UniProt
    7. negative regulation of eosinophil migration Source: UniProt
    8. negative regulation of fibroblast proliferation Source: UniProt
    9. negative regulation of MAP kinase activity Source: UniProt
    10. negative regulation of mast cell activation involved in immune response Source: UniProt
    11. negative regulation of mast cell degranulation Source: UniProt
    12. negative regulation of neutrophil activation Source: UniProt
    13. negative regulation of NK T cell activation Source: UniProt
    14. negative regulation of phagocytosis, engulfment Source: UniProt
    15. positive regulation of phosphoprotein phosphatase activity Source: UniProt
    16. regulation of T cell receptor signaling pathway Source: UniProt
    17. signal transduction Source: GOC

    Keywords - Molecular functioni

    Receptor

    Keywords - Biological processi

    Cell adhesion, Immunity

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    CMRF35-like molecule 8
    Short name:
    CLM-8
    Alternative name(s):
    CD300 antigen-like family member A
    CMRF-35-H9
    Short name:
    CMRF35-H9
    CMRF35-H
    IRC1/IRC2
    Immunoglobulin superfamily member 12
    Short name:
    IgSF12
    Inhibitory receptor protein 60
    Short name:
    IRp60
    NK inhibitory receptor
    CD_antigen: CD300a
    Gene namesi
    Name:CD300A
    Synonyms:CMRF35H, IGSF12
    ORF Names:HSPC083
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:19319. CD300A.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. integral component of membrane Source: UniProtKB-KW
    3. membrane Source: UniProt
    4. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142672149.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1717Sequence AnalysisAdd
    BLAST
    Chaini18 – 299282CMRF35-like molecule 8PRO_0000014682Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi36 ↔ 103PROSITE-ProRule annotation
    Glycosylationi83 – 831N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi92 – 921N-linked (GlcNAc...)Sequence Analysis
    Modified residuei293 – 2931PhosphotyrosineBy similarity

    Post-translational modificationi

    Phosphorylated on tyrosine.2 Publications

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiQ9UGN4.
    PeptideAtlasiQ9UGN4.
    PRIDEiQ9UGN4.

    PTM databases

    PhosphoSiteiQ9UGN4.

    Expressioni

    Tissue specificityi

    Expressed not only by natural killer (NK) cells but also by T-cell subsets, B-cells, dendritic cells, mast cells, granulocytes and monocytes.3 Publications

    Gene expression databases

    ArrayExpressiQ9UGN4.
    BgeeiQ9UGN4.
    CleanExiHS_CD300A.
    GenevestigatoriQ9UGN4.

    Organism-specific databases

    HPAiHPA011645.

    Interactioni

    Subunit structurei

    Upon tyrosine-phosphorylation, interacts with PTN6/SHP-1 and PTPN11/SHP-2 and INPP5D.

    Protein-protein interaction databases

    STRINGi9606.ENSP00000353259.

    Structurei

    Secondary structure

    1
    299
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi20 – 278
    Beta strandi32 – 376
    Helixi40 – 423
    Beta strandi45 – 517
    Beta strandi54 – 574
    Beta strandi61 – 666
    Beta strandi70 – 723
    Beta strandi75 – 806
    Helixi81 – 833
    Beta strandi85 – 928
    Helixi95 – 973
    Beta strandi99 – 1068
    Beta strandi117 – 1259

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2Q87X-ray1.70A/B/C19-125[»]
    ProteinModelPortaliQ9UGN4.
    SMRiQ9UGN4. Positions 22-128.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9UGN4.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini18 – 180163ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini202 – 29998CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei181 – 20121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini19 – 123105Ig-like V-typeAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CD300 family.Curated

    Keywords - Domaini

    Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG42608.
    HOVERGENiHBG100050.
    InParanoidiQ9UGN4.
    KOiK06719.
    OMAiYSVIRKT.
    OrthoDBiEOG7FFMST.
    PhylomeDBiQ9UGN4.
    TreeFamiTF334441.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    InterProiIPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR013106. Ig_V-set.
    [Graphical view]
    PfamiPF07686. V-set. 1 hit.
    [Graphical view]
    SMARTiSM00409. IG. 1 hit.
    [Graphical view]
    PROSITEiPS50835. IG_LIKE. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UGN4-1) [UniParc]FASTAAdd to Basket

    Also known as: IRC1a

    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.

    « Hide

    MWLPWALLLL WVPGCFALSK CRTVAGPVGG SLSVQCPYEK EHRTLNKYWC    50
    RPPQIFLCDK IVETKGSAGK RNGRVSIRDS PANLSFTVTL ENLTEEDAGT 100
    YWCGVDTPWL RDFHDPVVEV EVSVFPASTS MTPASITAAK TSTITTAFPP 150
    VSSTTLFAVG ATHSASIQEE TEEVVNSQLP LLLSLLALLL LLLVGASLLA 200
    WRMFQKWIKA GDHSELSQNP KQAATQSELH YANLELLMWP LQEKPAPPRE 250
    VEVEYSTVAS PREELHYASV VFDSNTNRIA AQRPREEEPD SDYSVIRKT 299
    Length:299
    Mass (Da):33,201
    Last modified:February 20, 2007 - v2
    Checksum:i978461DA87E86269
    GO
    Isoform 2 (identifier: Q9UGN4-2) [UniParc]FASTAAdd to Basket

    Also known as: IRC1c

    The sequence of this isoform differs from the canonical sequence as follows:
         14-126: Missing.

    Show »
    Length:186
    Mass (Da):20,640
    Checksum:i00D5E9379190EEEE
    GO
    Isoform 3 (identifier: Q9UGN4-3) [UniParc]FASTAAdd to Basket

    Also known as: IRC1b

    The sequence of this isoform differs from the canonical sequence as follows:
         14-209: Missing.

    Show »
    Length:103
    Mass (Da):11,870
    Checksum:iB65239E9760E47AB
    GO
    Isoform 4 (identifier: Q9UGN4-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         14-126: Missing.
         223-258: Missing.

    Show »
    Length:150
    Mass (Da):16,517
    Checksum:iED357EBD18A30FF0
    GO

    Sequence cautioni

    The sequence AAF28906.1 differs from that shown. Reason: Frameshift at several positions.
    The sequence AAF28906.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti28 – 292VG → W in AAD01646. (PubMed:9701027)Curated
    Sequence conflicti28 – 292VG → W in AAF89957. (PubMed:10746781)Curated
    Sequence conflicti39 – 391E → Q in AAF89957. (PubMed:10746781)Curated
    Sequence conflicti189 – 1891L → M in AAF28906. 1 PublicationCurated
    Sequence conflicti193 – 1931L → M in AAF28906. 1 PublicationCurated
    Sequence conflicti209 – 2091K → KWIK in AAD01646. (PubMed:9701027)Curated
    Sequence conflicti260 – 2601S → F in AAF28906. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti111 – 1111R → Q.2 Publications
    Corresponds to variant rs2272111 [ dbSNP | Ensembl ].
    VAR_030797

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei14 – 209196Missing in isoform 3. 1 PublicationVSP_010558Add
    BLAST
    Alternative sequencei14 – 126113Missing in isoform 2 and isoform 4. 2 PublicationsVSP_010559Add
    BLAST
    Alternative sequencei223 – 25836Missing in isoform 4. 1 PublicationVSP_041246Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ238323 mRNA. Translation: CAB66145.1.
    AJ010101 mRNA. Translation: CAB52291.1.
    AJ010102 mRNA. Translation: CAB52292.1.
    AJ010103 mRNA. Translation: CAB52293.1.
    AJ224864 mRNA. Translation: CAB55347.1.
    AF020314 mRNA. Translation: AAD01646.1.
    AF176991
    , AF176985, AF176986, AF176987, AF176988, AF176989, AF176990 Genomic DNA. Translation: AAF89957.1.
    AF161346 mRNA. Translation: AAF28906.1. Sequence problems.
    AC079325 Genomic DNA. No translation available.
    BC032352 mRNA. Translation: AAH32352.1.
    CCDSiCCDS32720.1. [Q9UGN4-1]
    CCDS58590.1. [Q9UGN4-2]
    RefSeqiNP_001243770.1. NM_001256841.1. [Q9UGN4-2]
    NP_009192.2. NM_007261.3. [Q9UGN4-1]
    UniGeneiHs.9688.

    Genome annotation databases

    EnsembliENST00000310828; ENSP00000308188; ENSG00000167851. [Q9UGN4-2]
    ENST00000360141; ENSP00000353259; ENSG00000167851. [Q9UGN4-1]
    ENST00000361933; ENSP00000354564; ENSG00000167851. [Q9UGN4-3]
    ENST00000392625; ENSP00000376401; ENSG00000167851. [Q9UGN4-4]
    GeneIDi11314.
    KEGGihsa:11314.
    UCSCiuc002jkv.4. human. [Q9UGN4-1]
    uc002jkw.4. human. [Q9UGN4-2]
    uc010dfr.4. human. [Q9UGN4-4]
    uc010dfs.4. human. [Q9UGN4-3]

    Polymorphism databases

    DMDMi126302534.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ238323 mRNA. Translation: CAB66145.1 .
    AJ010101 mRNA. Translation: CAB52291.1 .
    AJ010102 mRNA. Translation: CAB52292.1 .
    AJ010103 mRNA. Translation: CAB52293.1 .
    AJ224864 mRNA. Translation: CAB55347.1 .
    AF020314 mRNA. Translation: AAD01646.1 .
    AF176991
    , AF176985 , AF176986 , AF176987 , AF176988 , AF176989 , AF176990 Genomic DNA. Translation: AAF89957.1 .
    AF161346 mRNA. Translation: AAF28906.1 . Sequence problems.
    AC079325 Genomic DNA. No translation available.
    BC032352 mRNA. Translation: AAH32352.1 .
    CCDSi CCDS32720.1. [Q9UGN4-1 ]
    CCDS58590.1. [Q9UGN4-2 ]
    RefSeqi NP_001243770.1. NM_001256841.1. [Q9UGN4-2 ]
    NP_009192.2. NM_007261.3. [Q9UGN4-1 ]
    UniGenei Hs.9688.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2Q87 X-ray 1.70 A/B/C 19-125 [» ]
    ProteinModelPortali Q9UGN4.
    SMRi Q9UGN4. Positions 22-128.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000353259.

    PTM databases

    PhosphoSitei Q9UGN4.

    Polymorphism databases

    DMDMi 126302534.

    Proteomic databases

    PaxDbi Q9UGN4.
    PeptideAtlasi Q9UGN4.
    PRIDEi Q9UGN4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000310828 ; ENSP00000308188 ; ENSG00000167851 . [Q9UGN4-2 ]
    ENST00000360141 ; ENSP00000353259 ; ENSG00000167851 . [Q9UGN4-1 ]
    ENST00000361933 ; ENSP00000354564 ; ENSG00000167851 . [Q9UGN4-3 ]
    ENST00000392625 ; ENSP00000376401 ; ENSG00000167851 . [Q9UGN4-4 ]
    GeneIDi 11314.
    KEGGi hsa:11314.
    UCSCi uc002jkv.4. human. [Q9UGN4-1 ]
    uc002jkw.4. human. [Q9UGN4-2 ]
    uc010dfr.4. human. [Q9UGN4-4 ]
    uc010dfs.4. human. [Q9UGN4-3 ]

    Organism-specific databases

    CTDi 11314.
    GeneCardsi GC17P072462.
    HGNCi HGNC:19319. CD300A.
    HPAi HPA011645.
    MIMi 606790. gene.
    neXtProti NX_Q9UGN4.
    PharmGKBi PA142672149.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42608.
    HOVERGENi HBG100050.
    InParanoidi Q9UGN4.
    KOi K06719.
    OMAi YSVIRKT.
    OrthoDBi EOG7FFMST.
    PhylomeDBi Q9UGN4.
    TreeFami TF334441.

    Miscellaneous databases

    EvolutionaryTracei Q9UGN4.
    GeneWikii CD300A.
    GenomeRNAii 11314.
    NextBioi 42979.
    PROi Q9UGN4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UGN4.
    Bgeei Q9UGN4.
    CleanExi HS_CD300A.
    Genevestigatori Q9UGN4.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR003599. Ig_sub.
    IPR013106. Ig_V-set.
    [Graphical view ]
    Pfami PF07686. V-set. 1 hit.
    [Graphical view ]
    SMARTi SM00409. IG. 1 hit.
    [Graphical view ]
    PROSITEi PS50835. IG_LIKE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular and functional characterization of IRp60, a member of the immunoglobulin superfamily that functions as an inhibitory receptor in human NK cells."
      Cantoni C., Bottino C., Augugliaro R., Morelli L., Marcenaro E., Castriconi R., Vitale M., Pende D., Sivori S., Millo R., Biassoni R., Moretta L., Moretta A.
      Eur. J. Immunol. 29:3148-3159(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, PHOSPHORYLATION.
      Tissue: Lymphoid tissue.
    2. "IRC1 isoforms."
      Cantoni C., Biassoni R.
      Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), VARIANT GLN-111.
      Tissue: Lymphoid tissue.
    3. "The CMRF-35 mAb recognizes a second leukocyte membrane molecule with a domain similar to the poly Ig receptor."
      Green B.J., Clark G.J., Hart D.N.J.
      Int. Immunol. 10:891-899(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY.
    4. "The CMRF-35H gene structure predicts for an independently expressed member of an ITIM/ITAM pair of molecules localized to human chromosome 17."
      Clark G.J., Green B.J., Hart D.N.J.
      Tissue Antigens 55:101-109(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), FUNCTION.
    5. "Human partial CDS cloned from CD34+ stem cells."
      Zhang Q.H., Ye M., Zhou J., Shen Y., Wu X.Y., Guan Z.Q., Wang L., Fan H.Y., Mao Y.F., Dai M., Huang Q.H., Chen S.J., Chen Z.
      Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
      Tissue: Umbilical cord blood.
    6. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      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] (ISOFORM 1).
      Tissue: Blood.
    8. "The inhibitory receptor IRp60 (CD300a) is expressed and functional on human mast cells."
      Bachelet I., Munitz A., Moretta A., Moretta L., Levi-Schaffer F.
      J. Immunol. 175:7989-7995(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, PHOSPHORYLATION, TISSUE SPECIFICITY.
    9. "The crystal structure of IRp60 ectodomain."
      Dimasi N., Marquez J.A.
      Submitted (JUN-2007) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 19-128.
    10. "Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility."
      Speckman R.A., Wright Daw J.A., Helms C., Duan S., Cao L., Taillon-Miller P., Kwok P.Y., Menter A., Bowcock A.M.
      Hum. Genet. 112:34-41(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GLN-111.

    Entry informationi

    Entry nameiCLM8_HUMAN
    AccessioniPrimary (citable) accession number: Q9UGN4
    Secondary accession number(s): A8MW96
    , O95100, Q9HD97, Q9P0F3, Q9UBK4, Q9UMS9, Q9UMT0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 7, 2004
    Last sequence update: February 20, 2007
    Last modified: October 1, 2014
    This is version 117 of the entry and version 2 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human cell differentiation molecules
      CD nomenclature of surface proteins of human leucocytes and list of entries
    2. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3