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P50454

- SERPH_HUMAN

UniProt

P50454 - SERPH_HUMAN

Protein

Serpin H1

Gene

SERPINH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 2 (23 Jan 2002)
      Previous versions | rss
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    Functioni

    Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei377 – 3782Reactive bond homologBy similarity

    GO - Molecular functioni

    1. collagen binding Source: UniProtKB
    2. poly(A) RNA binding Source: UniProtKB
    3. serine-type endopeptidase inhibitor activity Source: RefGenome

    GO - Biological processi

    1. collagen biosynthetic process Source: Ensembl
    2. collagen fibril organization Source: Ensembl
    3. extracellular matrix organization Source: Reactome
    4. negative regulation of endopeptidase activity Source: RefGenome
    5. protein maturation Source: Ensembl
    6. regulation of proteolysis Source: RefGenome
    7. response to unfolded protein Source: ProtInc

    Keywords - Molecular functioni

    Chaperone

    Keywords - Biological processi

    Stress response

    Enzyme and pathway databases

    ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.

    Protein family/group databases

    MEROPSiI04.035.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Serpin H1
    Alternative name(s):
    47 kDa heat shock protein
    Arsenic-transactivated protein 3
    Short name:
    AsTP3
    Cell proliferation-inducing gene 14 protein
    Collagen-binding protein
    Short name:
    Colligin
    Rheumatoid arthritis-related antigen RA-A47
    Gene namesi
    Name:SERPINH1
    Synonyms:CBP1, CBP2, HSP47, SERPINH2
    ORF Names:PIG14
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:1546. SERPINH1.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB
    3. endoplasmic reticulum lumen Source: Reactome
    4. extracellular space Source: InterPro
    5. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Endoplasmic reticulum

    Pathology & Biotechi

    Involvement in diseasei

    Osteogenesis imperfecta 10 (OI10) [MIM:613848]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti78 – 781L → P in OI10. 1 Publication
    VAR_063602

    Keywords - Diseasei

    Osteogenesis imperfecta

    Organism-specific databases

    MIMi610504. phenotype.
    613848. phenotype.
    Orphaneti216812. Osteogenesis imperfecta type 3.
    PharmGKBiPA35034.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1818Sequence AnalysisAdd
    BLAST
    Chaini19 – 418400Serpin H1PRO_0000032520Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei94 – 941N6-succinyllysineBy similarity
    Glycosylationi120 – 1201N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi125 – 1251N-linked (GlcNAc...)Sequence Analysis
    Modified residuei207 – 2071N6-acetyllysineBy similarity
    Modified residuei296 – 2961N6-succinyllysineBy similarity
    Modified residuei319 – 3191N6-acetyllysineBy similarity

    Keywords - PTMi

    Acetylation, Glycoprotein

    Proteomic databases

    MaxQBiP50454.
    PaxDbiP50454.
    PeptideAtlasiP50454.
    PRIDEiP50454.

    2D gel databases

    DOSAC-COBS-2DPAGEP50454.
    UCD-2DPAGEP50454.

    PTM databases

    PhosphoSiteiP50454.

    Expressioni

    Inductioni

    By heat shock.

    Gene expression databases

    ArrayExpressiP50454.
    BgeeiP50454.
    CleanExiHS_SERPINH1.
    GenevestigatoriP50454.

    Organism-specific databases

    HPAiCAB004441.
    HPA029198.

    Interactioni

    Protein-protein interaction databases

    BioGridi107318. 72 interactions.
    IntActiP50454. 15 interactions.
    MINTiMINT-3018432.
    STRINGi9606.ENSP00000350894.

    Structurei

    3D structure databases

    ProteinModelPortaliP50454.
    SMRiP50454. Positions 36-418.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi415 – 4184Prevents secretion from ERPROSITE-ProRule annotation

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi25 – 295Poly-Ala

    Sequence similaritiesi

    Belongs to the serpin family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG4826.
    HOVERGENiHBG104930.
    InParanoidiP50454.
    KOiK09501.
    OMAiGVPMMHR.
    OrthoDBiEOG7GBFX4.
    PhylomeDBiP50454.
    TreeFamiTF343094.

    Family and domain databases

    InterProiIPR023795. Serpin_CS.
    IPR023796. Serpin_dom.
    IPR000215. Serpin_fam.
    [Graphical view]
    PANTHERiPTHR11461. PTHR11461. 1 hit.
    PfamiPF00079. Serpin. 1 hit.
    [Graphical view]
    SMARTiSM00093. SERPIN. 1 hit.
    [Graphical view]
    SUPFAMiSSF56574. SSF56574. 1 hit.
    PROSITEiPS00014. ER_TARGET. 1 hit.
    PS00284. SERPIN. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    P50454-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRSLLLLSAF CLLEAALAAE VKKPAAAAAP GTAEKLSPKA ATLAERSAGL    50
    AFSLYQAMAK DQAVENILVS PVVVASSLGL VSLGGKATTA SQAKAVLSAE 100
    QLRDEEVHAG LGELLRSLSN STARNVTWKL GSRLYGPSSV SFADDFVRSS 150
    KQHYNCEHSK INFRDKRSAL QSINEWAAQT TDGKLPEVTK DVERTDGALL 200
    VNAMFFKPHW DEKFHHKMVD NRGFMVTRSY TVGVMMMHRT GLYNYYDDEK 250
    EKLQIVEMPL AHKLSSLIIL MPHHVEPLER LEKLLTKEQL KIWMGKMQKK 300
    AVAISLPKGV VEVTHDLQKH LAGLGLTEAI DKNKADLSRM SGKKDLYLAS 350
    VFHATAFELD TDGNPFDQDI YGREELRSPK LFYADHPFIF LVRDTQSGSL 400
    LFIGRLVRPK GDKMRDEL 418
    Length:418
    Mass (Da):46,441
    Last modified:January 23, 2002 - v2
    Checksum:iB7719FCA13A55DEB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti7 – 104LSAF → GTL in CAA43795. (PubMed:1309665)Curated
    Sequence conflicti14 – 152EA → AV in CAA43795. (PubMed:1309665)Curated
    Sequence conflicti25 – 262AA → VE in CAA43795. (PubMed:1309665)Curated
    Sequence conflicti38 – 381P → S in CAA43795. (PubMed:1309665)Curated
    Sequence conflicti41 – 411A → T in CAA43795. (PubMed:1309665)Curated
    Sequence conflicti46 – 483RSA → PST in CAA43795. (PubMed:1309665)Curated
    Sequence conflicti164 – 1641R → P in CAA43795. (PubMed:1309665)Curated
    Sequence conflicti168 – 1692SA → RP in BAA11829. (PubMed:7656593)Curated
    Sequence conflicti235 – 2351M → T in CAA43795. (PubMed:1309665)Curated
    Sequence conflicti255 – 2551I → L in CAA43795. (PubMed:1309665)Curated
    Sequence conflicti270 – 2701L → F in AAH70087. (PubMed:15489334)Curated
    Sequence conflicti409 – 4091P → L in CAA43795. (PubMed:1309665)Curated

    Polymorphismi

    A functional SNP in the promoter of SERPINH1 is associated in African Americans with an increased risk for preterm premature rupture of membranes (PPROM) [MIMi:610504]. PPROM is defined as rupture of the membranes before 37 weeks of gestation. SERPINH1 with the -656 T allele displays significantly reduced promoter activity compared to the major -656 C allele. Prematurity is correlated with an increased frequency of the -656 T allele.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti41 – 411A → P.
    Corresponds to variant rs7105528 [ dbSNP | Ensembl ].
    VAR_028445
    Natural varianti78 – 781L → P in OI10. 1 Publication
    VAR_063602

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X61598 mRNA. Translation: CAA43795.1.
    D83174 mRNA. Translation: BAA11829.1.
    AB044778 mRNA. Translation: BAA96788.1.
    AB044779 mRNA. Translation: BAA96789.1.
    AY744367 mRNA. Translation: AAU95378.1.
    AY264853 mRNA. Translation: AAP93914.1.
    BT007094 mRNA. Translation: AAP35758.1.
    AK122936 mRNA. Translation: BAG53805.1.
    CH471076 Genomic DNA. Translation: EAW74974.1.
    BC014623 mRNA. Translation: AAH14623.1.
    BC036298 mRNA. Translation: AAH36298.2.
    BC070087 mRNA. Translation: AAH70087.1.
    CCDSiCCDS8239.1.
    PIRiI52968.
    S20608.
    RefSeqiNP_001193943.1. NM_001207014.1.
    NP_001226.2. NM_001235.3.
    XP_006718790.1. XM_006718727.1.
    XP_006718791.1. XM_006718728.1.
    XP_006718792.1. XM_006718729.1.
    UniGeneiHs.596449.

    Genome annotation databases

    EnsembliENST00000358171; ENSP00000350894; ENSG00000149257.
    ENST00000524558; ENSP00000434412; ENSG00000149257.
    ENST00000533603; ENSP00000434657; ENSG00000149257.
    GeneIDi871.
    KEGGihsa:871.
    UCSCiuc001owr.3. human.

    Polymorphism databases

    DMDMi20141241.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Osteogenesis imperfecta variant database

    Serpin H1 (SERPINH1)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X61598 mRNA. Translation: CAA43795.1 .
    D83174 mRNA. Translation: BAA11829.1 .
    AB044778 mRNA. Translation: BAA96788.1 .
    AB044779 mRNA. Translation: BAA96789.1 .
    AY744367 mRNA. Translation: AAU95378.1 .
    AY264853 mRNA. Translation: AAP93914.1 .
    BT007094 mRNA. Translation: AAP35758.1 .
    AK122936 mRNA. Translation: BAG53805.1 .
    CH471076 Genomic DNA. Translation: EAW74974.1 .
    BC014623 mRNA. Translation: AAH14623.1 .
    BC036298 mRNA. Translation: AAH36298.2 .
    BC070087 mRNA. Translation: AAH70087.1 .
    CCDSi CCDS8239.1.
    PIRi I52968.
    S20608.
    RefSeqi NP_001193943.1. NM_001207014.1.
    NP_001226.2. NM_001235.3.
    XP_006718790.1. XM_006718727.1.
    XP_006718791.1. XM_006718728.1.
    XP_006718792.1. XM_006718729.1.
    UniGenei Hs.596449.

    3D structure databases

    ProteinModelPortali P50454.
    SMRi P50454. Positions 36-418.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107318. 72 interactions.
    IntActi P50454. 15 interactions.
    MINTi MINT-3018432.
    STRINGi 9606.ENSP00000350894.

    Chemistry

    BindingDBi P50454.
    ChEMBLi CHEMBL5286.

    Protein family/group databases

    MEROPSi I04.035.

    PTM databases

    PhosphoSitei P50454.

    Polymorphism databases

    DMDMi 20141241.

    2D gel databases

    DOSAC-COBS-2DPAGE P50454.
    UCD-2DPAGE P50454.

    Proteomic databases

    MaxQBi P50454.
    PaxDbi P50454.
    PeptideAtlasi P50454.
    PRIDEi P50454.

    Protocols and materials databases

    DNASUi 871.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000358171 ; ENSP00000350894 ; ENSG00000149257 .
    ENST00000524558 ; ENSP00000434412 ; ENSG00000149257 .
    ENST00000533603 ; ENSP00000434657 ; ENSG00000149257 .
    GeneIDi 871.
    KEGGi hsa:871.
    UCSCi uc001owr.3. human.

    Organism-specific databases

    CTDi 871.
    GeneCardsi GC11P075273.
    HGNCi HGNC:1546. SERPINH1.
    HPAi CAB004441.
    HPA029198.
    MIMi 600943. gene.
    610504. phenotype.
    613848. phenotype.
    neXtProti NX_P50454.
    Orphaneti 216812. Osteogenesis imperfecta type 3.
    PharmGKBi PA35034.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4826.
    HOVERGENi HBG104930.
    InParanoidi P50454.
    KOi K09501.
    OMAi GVPMMHR.
    OrthoDBi EOG7GBFX4.
    PhylomeDBi P50454.
    TreeFami TF343094.

    Enzyme and pathway databases

    Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.

    Miscellaneous databases

    ChiTaRSi SERPINH1. human.
    GeneWikii Heat_shock_protein_47.
    GenomeRNAii 871.
    NextBioi 3630.
    PROi P50454.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P50454.
    Bgeei P50454.
    CleanExi HS_SERPINH1.
    Genevestigatori P50454.

    Family and domain databases

    InterProi IPR023795. Serpin_CS.
    IPR023796. Serpin_dom.
    IPR000215. Serpin_fam.
    [Graphical view ]
    PANTHERi PTHR11461. PTHR11461. 1 hit.
    Pfami PF00079. Serpin. 1 hit.
    [Graphical view ]
    SMARTi SM00093. SERPIN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56574. SSF56574. 1 hit.
    PROSITEi PS00014. ER_TARGET. 1 hit.
    PS00284. SERPIN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of a human collagen-binding protein, and its homology with rat gp46, chick hsp47 and mouse J6 proteins."
      Clarke E., Sandwal B.D.
      Biochim. Biophys. Acta 1129:246-248(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Fibroblast.
    2. "Isolation, characterization and chromosomal assignment of human colligin-2 gene (CBP2)."
      Ikegawa S., Sudo K., Okui K., Nakamura Y.
      Cytogenet. Cell Genet. 71:182-186(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Rheumatoid arthritis-related antigen 47kDa (RA-A47) is a product of colligin-2 and acts as a human HSP47."
      Hattori T., Takahash K., Yutani Y., Fujisawa T., Nakanishi T., Takigawa M.
      J. Bone Miner. Metab. 18:328-334(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Cartilage and Fibroblast.
    4. "Cloning and identification of human AsTP3 gene transactivated by arsenic trioxide in HepG2 cells."
      Wu S.-H., Cheng J., Zheng Y.-J., Zhang Y.-X., Liu Y., Zhong Y.-W.
      Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    5. "Identification of a human cell proliferation gene 14."
      Kim J.W.
      Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    6. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    7. "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.
      , 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].
      Tissue: Testis.
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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: Brain, Ovary and Skin.
    10. "A functional SNP in the promoter of the SERPINH1 gene increases risk of preterm premature rupture of membranes in African Americans."
      Wang H., Parry S., Macones G., Sammel M.D., Kuivaniemi H., Tromp G., Argyropoulos G., Halder I., Shriver M.D., Romero R., Strauss J.F. III
      Proc. Natl. Acad. Sci. U.S.A. 103:13463-13467(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: POLYMORPHISM IN PROMOTER, INVOLVEMENT IN PPROM.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta."
      Christiansen H.E., Schwarze U., Pyott S.M., AlSwaid A., Al Balwi M., Alrasheed S., Pepin M.G., Weis M.A., Eyre D.R., Byers P.H.
      Am. J. Hum. Genet. 86:389-398(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT OI10 PRO-78.

    Entry informationi

    Entry nameiSERPH_HUMAN
    AccessioniPrimary (citable) accession number: P50454
    Secondary accession number(s): B3KVJ3
    , P29043, Q5XPB4, Q6NSJ6, Q8IY96, Q9NP88
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: January 23, 2002
    Last modified: October 1, 2014
    This is version 150 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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