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P60410

- KR108_HUMAN

UniProt

P60410 - KR108_HUMAN

Protein

Keratin-associated protein 10-8

Gene

KRTAP10-8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 83 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin-associated protein 10-8
    Alternative name(s):
    High sulfur keratin-associated protein 10.8
    Keratin-associated protein 10.8
    Keratin-associated protein 18-8
    Keratin-associated protein 18.8
    Gene namesi
    Name:KRTAP10-8
    Synonyms:KAP10.8, KAP18-8, KRTAP10.8, KRTAP18-8, KRTAP18.8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:20525. KRTAP10-8.

    Subcellular locationi

    GO - Cellular componenti

    1. keratin filament Source: InterPro

    Keywords - Cellular componenti

    Keratin

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134968895.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 259259Keratin-associated protein 10-8PRO_0000185216Add
    BLAST

    Proteomic databases

    PaxDbiP60410.
    PRIDEiP60410.

    Expressioni

    Tissue specificityi

    Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.2 Publications

    Gene expression databases

    CleanExiHS_KRTAP10-8.
    GenevestigatoriP60410.

    Interactioni

    Subunit structurei

    Interacts with hair keratins.

    Structurei

    3D structure databases

    ProteinModelPortaliP60410.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati50 – 5451
    Repeati60 – 6452
    Repeati65 – 6953
    Repeati98 – 10254
    Repeati108 – 11255
    Repeati118 – 12256
    Repeati123 – 12757
    Repeati133 – 13758
    Repeati145 – 14959
    Repeati155 – 159510
    Repeati165 – 169511
    Repeati170 – 174512
    Repeati175 – 179513
    Repeati187 – 191514
    Repeati197 – 201515
    Repeati202 – 206516
    Repeati221 – 225517
    Repeati228 – 232518
    Repeati239 – 243519

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni26 – 24321819 X 5 AA repeats of C-C-X(3)Add
    BLAST

    Sequence similaritiesi

    Belongs to the KRTAP type 10 family.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG113264.
    HOGENOMiHOG000234031.
    HOVERGENiHBG108072.
    InParanoidiP60410.
    OMAiCTDSCTP.
    OrthoDBiEOG7Q5HGX.
    PhylomeDBiP60410.
    TreeFamiTF351356.

    Family and domain databases

    InterProiIPR002494. KAP.
    IPR007951. KRTAP_PMG.
    [Graphical view]
    PANTHERiPTHR23262. PTHR23262. 1 hit.
    PfamiPF13885. Keratin_B2_2. 2 hits.
    PF05287. PMG. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P60410-1 [UniParc]FASTAAdd to Basket

    « Hide

    MADACCTRTY VIAASTMSVC SSDVGHVSRV SSPSTCTGSS WQVDNCQESC    50
    CEPRSCASSC CTPSCCAPAP CLALVCAPVS CEPSPCQSGC TDSCTPSCCQ 100
    QSSCQPACCT SSPCQQACCV PVCCKSNCCK PVCCVSICSG ASSPCCQQSS 150
    CQSACCTFSP CQQACCVPIC CKPICCVPVC SGASSLCCQK SSCQPACCTT 200
    SCCRPSSSVS LLCRPVCRPA CCVPVPSCCV PASSCQPSCC HPASCLSFLC 250
    RPACSRLAC 259
    Length:259
    Mass (Da):26,299
    Last modified:October 17, 2006 - v2
    Checksum:i180307276CAB4607
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti26 – 261H → R.2 Publications
    Corresponds to variant rs411254 [ dbSNP | Ensembl ].
    VAR_028234
    Natural varianti64 – 641S → N in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036560
    Natural varianti159 – 1591S → F in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036561

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB076355 mRNA. Translation: BAD01542.1.
    AL773602 Genomic DNA. No translation available.
    BC127016 mRNA. Translation: AAI27017.1.
    CCDSiCCDS13713.1.
    RefSeqiNP_941968.2. NM_198695.2.
    UniGeneiHs.528021.

    Genome annotation databases

    EnsembliENST00000334662; ENSP00000335565; ENSG00000187766.
    GeneIDi386681.
    KEGGihsa:386681.
    UCSCiuc002zfo.1. human.

    Polymorphism databases

    DMDMi116242612.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB076355 mRNA. Translation: BAD01542.1 .
    AL773602 Genomic DNA. No translation available.
    BC127016 mRNA. Translation: AAI27017.1 .
    CCDSi CCDS13713.1.
    RefSeqi NP_941968.2. NM_198695.2.
    UniGenei Hs.528021.

    3D structure databases

    ProteinModelPortali P60410.
    ModBasei Search...
    MobiDBi Search...

    Polymorphism databases

    DMDMi 116242612.

    Proteomic databases

    PaxDbi P60410.
    PRIDEi P60410.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000334662 ; ENSP00000335565 ; ENSG00000187766 .
    GeneIDi 386681.
    KEGGi hsa:386681.
    UCSCi uc002zfo.1. human.

    Organism-specific databases

    CTDi 386681.
    GeneCardsi GC21P046031.
    H-InvDB HIX0040851.
    HGNCi HGNC:20525. KRTAP10-8.
    neXtProti NX_P60410.
    PharmGKBi PA134968895.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG113264.
    HOGENOMi HOG000234031.
    HOVERGENi HBG108072.
    InParanoidi P60410.
    OMAi CTDSCTP.
    OrthoDBi EOG7Q5HGX.
    PhylomeDBi P60410.
    TreeFami TF351356.

    Miscellaneous databases

    GenomeRNAii 386681.
    NextBioi 101004.
    PROi P60410.

    Gene expression databases

    CleanExi HS_KRTAP10-8.
    Genevestigatori P60410.

    Family and domain databases

    InterProi IPR002494. KAP.
    IPR007951. KRTAP_PMG.
    [Graphical view ]
    PANTHERi PTHR23262. PTHR23262. 1 hit.
    Pfami PF13885. Keratin_B2_2. 2 hits.
    PF05287. PMG. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3."
      Shibuya K., Obayashi I., Asakawa S., Minoshima S., Kudoh J., Shimizu N.
      Genomics 83:679-693(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT ARG-26.
      Tissue: Hair root.
    2. "The DNA sequence of human chromosome 21."
      Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
      , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
      Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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], VARIANT ARG-26.
    4. "Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21."
      Rogers M.A., Langbein L., Winter H., Beckmann I., Praetzel S., Schweizer J.
      J. Invest. Dermatol. 122:147-158(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    5. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ASN-64 AND PHE-159.

    Entry informationi

    Entry nameiKR108_HUMAN
    AccessioniPrimary (citable) accession number: P60410
    Secondary accession number(s): A0JNW4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 16, 2004
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 83 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 21
      Human chromosome 21: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3