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P60411

- KR109_HUMAN

UniProt

P60411 - KR109_HUMAN

Protein

Keratin-associated protein 10-9

Gene

KRTAP10-9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 84 (01 Oct 2014)
      Sequence version 2 (20 Apr 2010)
      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 10-9
    Alternative name(s):
    High sulfur keratin-associated protein 10.9
    Keratin-associated protein 10.9
    Keratin-associated protein 18-9
    Keratin-associated protein 18.9
    Gene namesi
    Name:KRTAP10-9
    Synonyms:KAP10.9, KAP18-9, KRTAP10.9, KRTAP18-9, KRTAP18.9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:22971. KRTAP10-9.

    Subcellular locationi

    GO - Cellular componenti

    1. keratin filament Source: InterPro

    Keywords - Cellular componenti

    Keratin

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134873081.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 292292Keratin-associated protein 10-9PRO_0000185217Add
    BLAST

    Proteomic databases

    PaxDbiP60411.
    PeptideAtlasiP60411.
    PRIDEiP60411.

    PTM databases

    PhosphoSiteiP60411.

    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

    BgeeiP60411.
    CleanExiHS_KRTAP10-9.
    GenevestigatoriP60411.

    Interactioni

    Subunit structurei

    Interacts with hair keratins.

    Protein-protein interaction databases

    STRINGi9606.ENSP00000381009.

    Structurei

    3D structure databases

    ProteinModelPortaliP60411.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati26 – 3051
    Repeati31 – 3552
    Repeati36 – 4053
    Repeati57 – 6154
    Repeati79 – 8355
    Repeati99 – 10356
    Repeati104 – 10857
    Repeati109 – 11358
    Repeati114 – 11859
    Repeati120 – 124510
    Repeati130 – 134511
    Repeati140 – 144512
    Repeati145 – 149513
    Repeati150 – 154514
    Repeati162 – 166515
    Repeati172 – 176516
    Repeati182 – 186517
    Repeati187 – 191518
    Repeati192 – 196519
    Repeati197 – 201520
    Repeati209 – 213521
    Repeati219 – 223522
    Repeati224 – 228523
    Repeati243 – 247524
    Repeati250 – 254525

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni26 – 25422925 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

    eggNOGiNOG270891.
    HOGENOMiHOG000234031.
    HOVERGENiHBG108072.
    InParanoidiP60411.
    OMAiSEDSYSC.
    OrthoDBiEOG780RQD.
    PhylomeDBiP60411.
    TreeFamiTF351356.

    Family and domain databases

    InterProiIPR002494. KAP.
    [Graphical view]
    PANTHERiPTHR23262. PTHR23262. 1 hit.
    PfamiPF13885. Keratin_B2_2. 4 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    This entry describes 1 isoform i produced by alternative splicing. Align

    Note: A number of isoforms are produced.

    Isoform 1 (identifier: P60411-1) [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

    MAASTMSIRS SAYSDSWQVD DCPESCCEPP CCATSCCAPA PCLTLVCTPV    50
    SRVSSPCCQV TCEPSPCQSG CTSSCTPSCC QQSSCQPAYC TSSPCQQACC 100
    VPVCCKPVCC VPVCCGASSC CQQSSYQPAC CASSSCQPAC CVPVCCKPVC 150
    CAPTCSEDSY SCCQQSSCQP ACCTSSPCQQ SYCVPVCCKP VCCKPICCVP 200
    VCSGASSLCC QQSGCQPACC TTSCCRPSSS VSLLCRPVCR PACCVPVSSC 250
    CAPTSSRQPS YCRQASCVSL LCRPVCSRPA CYSFSSGQKS SC 292
    Length:292
    Mass (Da):30,037
    Last modified:April 20, 2010 - v2
    Checksum:iE61D891212803B98
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti102 – 1021P → PVCCKT in EAX09409. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti182 – 1821Y → C.1 Publication
    Corresponds to variant rs8127342 [ dbSNP | Ensembl ].
    VAR_017739
    Natural varianti257 – 2571R → C.2 Publications
    Corresponds to variant rs9980129 [ dbSNP | Ensembl ].
    VAR_060052

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB076356 mRNA. Translation: BAD01543.1.
    AL773602 Genomic DNA. No translation available.
    CH471079 Genomic DNA. Translation: EAX09409.1.
    CH471079 Genomic DNA. Translation: EAX09411.1.
    BC131613 mRNA. Translation: AAI31614.1.
    AJ566386 mRNA. Translation: CAD97466.1.
    CCDSiCCDS42961.1. [P60411-1]
    RefSeqiNP_941963.2. NM_198690.2. [P60411-1]
    NP_941965.2. NM_198692.2.
    UniGeneiHs.474000.
    Hs.58076.

    Genome annotation databases

    EnsembliENST00000397911; ENSP00000381009; ENSG00000221837. [P60411-1]
    GeneIDi386676.
    386678.
    KEGGihsa:386676.
    hsa:386678.
    UCSCiuc002zfp.4. human. [P60411-1]

    Polymorphism databases

    DMDMi294862449.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB076356 mRNA. Translation: BAD01543.1 .
    AL773602 Genomic DNA. No translation available.
    CH471079 Genomic DNA. Translation: EAX09409.1 .
    CH471079 Genomic DNA. Translation: EAX09411.1 .
    BC131613 mRNA. Translation: AAI31614.1 .
    AJ566386 mRNA. Translation: CAD97466.1 .
    CCDSi CCDS42961.1. [P60411-1 ]
    RefSeqi NP_941963.2. NM_198690.2. [P60411-1 ]
    NP_941965.2. NM_198692.2.
    UniGenei Hs.474000.
    Hs.58076.

    3D structure databases

    ProteinModelPortali P60411.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000381009.

    PTM databases

    PhosphoSitei P60411.

    Polymorphism databases

    DMDMi 294862449.

    Proteomic databases

    PaxDbi P60411.
    PeptideAtlasi P60411.
    PRIDEi P60411.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000397911 ; ENSP00000381009 ; ENSG00000221837 . [P60411-1 ]
    GeneIDi 386676.
    386678.
    KEGGi hsa:386676.
    hsa:386678.
    UCSCi uc002zfp.4. human. [P60411-1 ]

    Organism-specific databases

    CTDi 386676.
    386678.
    GeneCardsi GC21P046047.
    H-InvDB HIX0040852.
    HGNCi HGNC:22971. KRTAP10-9.
    neXtProti NX_P60411.
    PharmGKBi PA134873081.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG270891.
    HOGENOMi HOG000234031.
    HOVERGENi HBG108072.
    InParanoidi P60411.
    OMAi SEDSYSC.
    OrthoDBi EOG780RQD.
    PhylomeDBi P60411.
    TreeFami TF351356.

    Miscellaneous databases

    NextBioi 100980.
    PROi P60411.

    Gene expression databases

    Bgeei P60411.
    CleanExi HS_KRTAP10-9.
    Genevestigatori P60411.

    Family and domain databases

    InterProi IPR002494. KAP.
    [Graphical view ]
    PANTHERi PTHR23262. PTHR23262. 1 hit.
    Pfami PF13885. Keratin_B2_2. 4 hits.
    [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.
      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. 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], VARIANTS CYS-182 AND CYS-257.
    5. "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: NUCLEOTIDE SEQUENCE [MRNA] OF 244-292, TISSUE SPECIFICITY, VARIANT CYS-257.
      Tissue: Scalp.

    Entry informationi

    Entry nameiKR109_HUMAN
    AccessioniPrimary (citable) accession number: P60411
    Secondary accession number(s): A2RRG1, A6NIR9, Q70LJ1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 16, 2004
    Last sequence update: April 20, 2010
    Last modified: October 1, 2014
    This is version 84 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