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Q2YD98

- UVSSA_HUMAN

UniProt

Q2YD98 - UVSSA_HUMAN

Protein

UV-stimulated scaffold protein A

Gene

UVSSA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 68 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    Factor involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage. TC-NER allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Acts by promoting stabilization of ERCC6 by recruiting deubiquitinating enzyme USP7 to TC-NER complexes, preventing UV-induced degradation of ERCC6 by the proteasome. Interacts with the elongating form of RNA polymerase II (RNA pol IIo) and facilitates its ubiquitination at UV damage sites, leading to promote RNA pol IIo backtracking to allow access to the nucleotide excision repair machinery. Not involved in processing oxidative damage.3 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. RNA polymerase II core binding Source: UniProtKB

    GO - Biological processi

    1. protein ubiquitination Source: UniProtKB
    2. response to UV Source: UniProtKB
    3. transcription-coupled nucleotide-excision repair Source: UniProtKB

    Keywords - Biological processi

    DNA damage, DNA repair

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    UV-stimulated scaffold protein A
    Gene namesi
    Name:UVSSA
    Synonyms:KIAA1530
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:29304. UVSSA.

    Subcellular locationi

    Chromosome 2 Publications
    Note: Accumulates at UV DNA damage sites.

    GO - Cellular componenti

    1. chromosome Source: UniProtKB

    Keywords - Cellular componenti

    Chromosome

    Pathology & Biotechi

    Involvement in diseasei

    UV-sensitive syndrome 3 (UVSS3) [MIM:614640]: An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti32 – 321C → R in UVSS3; mild phenotype; impairs transcription-coupled nucleotide excision repair ability. 1 Publication
    VAR_067798

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi120 – 1201W → A: Impairs transcription-coupled nucleotide excision repair ability. 1 Publication
    Mutagenesisi157 – 1593RKR → EEE: Impairs transcription-coupled nucleotide excision repair ability.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614640. phenotype.
    Orphaneti178338. UV-sensitive syndrome.
    PharmGKBiPA162393105.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 709709UV-stimulated scaffold protein APRO_0000317282Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei281 – 2811Phosphoserine1 Publication
    Modified residuei287 – 2871Phosphoserine1 Publication

    Post-translational modificationi

    Monoubiquitinated: ubiquitination does not increase in response to UV.1 Publication

    Keywords - PTMi

    Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiQ2YD98.
    PaxDbiQ2YD98.
    PRIDEiQ2YD98.

    PTM databases

    PhosphoSiteiQ2YD98.

    Expressioni

    Gene expression databases

    ArrayExpressiQ2YD98.
    BgeeiQ2YD98.
    CleanExiHS_KIAA1530.
    GenevestigatoriQ2YD98.

    Organism-specific databases

    HPAiHPA050824.

    Interactioni

    Subunit structurei

    Interacts with the elongating form of RNA polymerase II (RNA pol IIo). Interacts with ERCC6, ERCC8 and USP7.2 Publications

    Protein-protein interaction databases

    BioGridi121689. 11 interactions.
    STRINGi9606.ENSP00000374501.

    Structurei

    3D structure databases

    ProteinModelPortaliQ2YD98.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni2 – 145144VHS-likeAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili165 – 19935Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the UVSSA family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG313134.
    HOGENOMiHOG000060117.
    HOVERGENiHBG076421.
    InParanoidiQ2YD98.
    OMAiRMDQKKH.
    OrthoDBiEOG7X0VHQ.
    PhylomeDBiQ2YD98.
    TreeFamiTF321660.

    Family and domain databases

    InterProiIPR018610. DUF2043.
    [Graphical view]
    PfamiPF09740. DUF2043. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q2YD98-1) [UniParc]FASTAAdd to Basket

    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

    MDQKLSKLVE ELTTSGEPRL NPEKMKELKK ICKSSEEQLS RAYRLLIAQL    50
    TQEHAEIRLS AFQIVEELFV RSHQFRMLVV SNFQEFLELT LGTDPAQPLP 100
    PPREAAQRLR QATTRAVEGW NEKFGEAYKK LALGYHFLRH NKKVDFQDTN 150
    ARSLAERKRE EEKQKHLDKI YQERASQAER EMQEMSGEIE SCLTEVESCF 200
    RLLVPFDFDP NPETESLGMA SGMSDALRSS CAGQVGPCRS GTPDPRDGEQ 250
    PCCSRDLPAS AGHPRAGGGA QPSQTATGDP SDEDEDSDLE EFVRSHGLGS 300
    HKYTLDVELC SEGLKVQENE DNLALIHAAR DTLKLIRNKF LPAVCSWIQR 350
    FTRVGTHGGC LKRAIDLKAE LELVLRKYKE LDIEPEGGER RRTEALGDAE 400
    EDEDDEDFVE VPEKEGYEPH IPDHLRPEYG LEAAPEKDTV VRCLRTRTRM 450
    DEEVSDPTSA AAQLRQLRDH LPPPSSASPS RALPEPQEAQ KLAAERARAP 500
    VVPYGVDLHY WGQELPTAGK IVKSDSQHRF WKPSEVEEEV VNADISEMLR 550
    SRHITFAGKF EPVQHWCRAP RPDGRLCERQ DRLKCPFHGK IVPRDDEGRP 600
    LDPEDRAREQ RRQLQKQERP EWQDPELMRD VEAATGQDLG SSRYSGKGRG 650
    KKRRYPSLTN LKAQADTARA RIGRKVFAKA AVRRVVAAMN RMDQKKHEKF 700
    SNQFNYALN 709
    Length:709
    Mass (Da):80,591
    Last modified:May 18, 2010 - v2
    Checksum:i34698BE37A43BF2F
    GO
    Isoform 2 (identifier: Q2YD98-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-449: Missing.

    Show »
    Length:260
    Mass (Da):29,763
    Checksum:i5A72163E1A43CE42
    GO

    Sequence cautioni

    The sequence BAA96054.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti32 – 321C → R in UVSS3; mild phenotype; impairs transcription-coupled nucleotide excision repair ability. 1 Publication
    VAR_067798
    Natural varianti391 – 3911R → H.
    Corresponds to variant rs2276904 [ dbSNP | Ensembl ].
    VAR_038499
    Natural varianti620 – 6201P → L.3 Publications
    Corresponds to variant rs28522910 [ dbSNP | Ensembl ].
    VAR_038500

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 449449Missing in isoform 2. 2 PublicationsVSP_030932Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB040963 mRNA. Translation: BAA96054.1. Different initiation.
    AK292661 mRNA. Translation: BAF85350.1.
    AC078852 Genomic DNA. No translation available.
    AC118281 Genomic DNA. No translation available.
    BC021930 mRNA. Translation: AAH21930.1.
    BC110331 mRNA. Translation: AAI10332.1.
    BC140901 mRNA. Translation: AAI40902.1.
    CCDSiCCDS33938.1. [Q2YD98-1]
    RefSeqiNP_065945.2. NM_020894.2. [Q2YD98-1]
    XP_005272347.1. XM_005272290.2. [Q2YD98-1]
    XP_006713960.1. XM_006713897.1. [Q2YD98-1]
    UniGeneiHs.380475.

    Genome annotation databases

    EnsembliENST00000389851; ENSP00000374501; ENSG00000163945. [Q2YD98-1]
    ENST00000507531; ENSP00000421741; ENSG00000163945. [Q2YD98-1]
    ENST00000511216; ENSP00000425130; ENSG00000163945. [Q2YD98-1]
    ENST00000511563; ENSP00000423340; ENSG00000163945. [Q2YD98-2]
    ENST00000512728; ENSP00000427701; ENSG00000163945. [Q2YD98-2]
    GeneIDi57654.
    KEGGihsa:57654.
    UCSCiuc003gde.4. human. [Q2YD98-1]
    uc010ibv.3. human. [Q2YD98-2]

    Polymorphism databases

    DMDMi296434546.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB040963 mRNA. Translation: BAA96054.1 . Different initiation.
    AK292661 mRNA. Translation: BAF85350.1 .
    AC078852 Genomic DNA. No translation available.
    AC118281 Genomic DNA. No translation available.
    BC021930 mRNA. Translation: AAH21930.1 .
    BC110331 mRNA. Translation: AAI10332.1 .
    BC140901 mRNA. Translation: AAI40902.1 .
    CCDSi CCDS33938.1. [Q2YD98-1 ]
    RefSeqi NP_065945.2. NM_020894.2. [Q2YD98-1 ]
    XP_005272347.1. XM_005272290.2. [Q2YD98-1 ]
    XP_006713960.1. XM_006713897.1. [Q2YD98-1 ]
    UniGenei Hs.380475.

    3D structure databases

    ProteinModelPortali Q2YD98.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121689. 11 interactions.
    STRINGi 9606.ENSP00000374501.

    PTM databases

    PhosphoSitei Q2YD98.

    Polymorphism databases

    DMDMi 296434546.

    Proteomic databases

    MaxQBi Q2YD98.
    PaxDbi Q2YD98.
    PRIDEi Q2YD98.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000389851 ; ENSP00000374501 ; ENSG00000163945 . [Q2YD98-1 ]
    ENST00000507531 ; ENSP00000421741 ; ENSG00000163945 . [Q2YD98-1 ]
    ENST00000511216 ; ENSP00000425130 ; ENSG00000163945 . [Q2YD98-1 ]
    ENST00000511563 ; ENSP00000423340 ; ENSG00000163945 . [Q2YD98-2 ]
    ENST00000512728 ; ENSP00000427701 ; ENSG00000163945 . [Q2YD98-2 ]
    GeneIDi 57654.
    KEGGi hsa:57654.
    UCSCi uc003gde.4. human. [Q2YD98-1 ]
    uc010ibv.3. human. [Q2YD98-2 ]

    Organism-specific databases

    CTDi 57654.
    GeneCardsi GC04P001341.
    HGNCi HGNC:29304. UVSSA.
    HPAi HPA050824.
    MIMi 614632. gene.
    614640. phenotype.
    neXtProti NX_Q2YD98.
    Orphaneti 178338. UV-sensitive syndrome.
    PharmGKBi PA162393105.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG313134.
    HOGENOMi HOG000060117.
    HOVERGENi HBG076421.
    InParanoidi Q2YD98.
    OMAi RMDQKKH.
    OrthoDBi EOG7X0VHQ.
    PhylomeDBi Q2YD98.
    TreeFami TF321660.

    Miscellaneous databases

    GeneWikii KIAA1530.
    GenomeRNAii 57654.
    NextBioi 64404.
    PROi Q2YD98.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q2YD98.
    Bgeei Q2YD98.
    CleanExi HS_KIAA1530.
    Genevestigatori Q2YD98.

    Family and domain databases

    InterProi IPR018610. DUF2043.
    [Graphical view ]
    Pfami PF09740. DUF2043. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LEU-620.
      Tissue: Brain.
    2. "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] (ISOFORM 2), VARIANT LEU-620.
      Tissue: Thymus.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORMS 1 AND 2), VARIANT LEU-620.
      Tissue: Duodenum, Lung and Skin.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-281 AND SER-287, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    7. "Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair."
      Nakazawa Y., Sasaki K., Mitsutake N., Matsuse M., Shimada M., Nardo T., Takahashi Y., Ohyama K., Ito K., Mishima H., Nomura M., Kinoshita A., Ono S., Takenaka K., Masuyama R., Kudo T., Slor H., Utani A.
      , Tateishi S., Yamashita S., Stefanini M., Lehmann A.R., Yoshiura K.I., Ogi T.
      Nat. Genet. 44:586-592(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INVOLVEMENT IN UVSS3, MUTAGENESIS OF TRP-120 AND 157-ARG--ARG-159, VARIANT UVSS3 ARG-32, CHARACTERIZATION OF VARIANT UVSS3 ARG-32.
    8. Cited for: FUNCTION, INVOLVEMENT IN UVSS3, SUBCELLULAR LOCATION, UBIQUITINATION, INTERACTION WITH USP7.
    9. "Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair."
      Zhang X., Horibata K., Saijo M., Ishigami C., Ukai A., Kanno S.I., Tahara H., Neilan E.G., Honma M., Nohmi T., Yasui A., Tanaka K.
      Nat. Genet. 44:593-597(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INVOLVEMENT IN UVSS3, SUBCELLULAR LOCATION, INTERACTION WITH ERCC6; ERCC8 AND USP7.

    Entry informationi

    Entry nameiUVSSA_HUMAN
    AccessioniPrimary (citable) accession number: Q2YD98
    Secondary accession number(s): A8K9E6
    , B2RU11, Q8WTX4, Q9P1Z8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 5, 2008
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 68 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 4
      Human chromosome 4: 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