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P60413

- KR10C_HUMAN

UniProt

P60413 - KR10C_HUMAN

Protein

Keratin-associated protein 10-12

Gene

KRTAP10-12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 80 (01 Oct 2014)
      Sequence version 1 (16 Feb 2004)
      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 10-12
    Alternative name(s):
    High sulfur keratin-associated protein 10.12
    Keratin-associated protein 10.12
    Keratin-associated protein 18-12
    Keratin-associated protein 18.12
    Gene namesi
    Name:KRTAP10-12
    Synonyms:KAP10.12, KAP18-12, KRTAP10.12, KRTAP18-12, KRTAP18.12
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:20533. KRTAP10-12.

    Subcellular locationi

    GO - Cellular componenti

    1. keratin filament Source: InterPro

    Keywords - Cellular componenti

    Keratin

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134977717.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 245245Keratin-associated protein 10-12PRO_0000185220Add
    BLAST

    Proteomic databases

    PaxDbiP60413.
    PeptideAtlasiP60413.
    PRIDEiP60413.

    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

    BgeeiP60413.
    CleanExiHS_KRTAP10-12.
    GenevestigatoriP60413.

    Interactioni

    Subunit structurei

    Interacts with hair keratins.

    Protein-protein interaction databases

    STRINGi9606.ENSP00000383216.

    Structurei

    3D structure databases

    ProteinModelPortaliP60413.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati36 – 4051
    Repeati41 – 4552
    Repeati62 – 6653
    Repeati84 – 8854
    Repeati94 – 9855
    Repeati104 – 10856
    Repeati109 – 11357
    Repeati114 – 11858
    Repeati119 – 12359
    Repeati124 – 128510
    Repeati131 – 135511
    Repeati141 – 145512
    Repeati151 – 155513
    Repeati156 – 160514
    Repeati161 – 165515
    Repeati173 – 177516
    Repeati183 – 187517
    Repeati188 – 192518
    Repeati214 – 218519

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni36 – 21818319 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

    eggNOGiNOG324830.
    HOGENOMiHOG000234031.
    HOVERGENiHBG108072.
    InParanoidiP60413.
    OMAiCAPSSCL.
    OrthoDBiEOG780RQD.
    TreeFamiTF351356.

    Family and domain databases

    InterProiIPR002494. KAP.
    [Graphical view]
    PANTHERiPTHR23262. PTHR23262. 1 hit.
    PfamiPF13885. Keratin_B2_2. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P60413-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSVCSSDLSY GSRVCLPGSC DSCSDSWQVD DCPESCCEPP CCAPAPCLSL    50
    VCTPVSRVSS PCCRVTCEPS PCQSGCTSSC TPSCCQQSSC QPACCTSSPC 100
    QQACCVPVCC KTVCCKPVCC MPVCCGPSSS CCQQSSCQPA CCISSPCQQS 150
    CCVPVCCKPI CCVPVCSGAS SLCCQQSSCQ PACCTTSCCR PSSSVSLLCR 200
    PVCRPARRVP VPSCCVPTSS CQPSCGRLAS CGSLLCRPTC SRLAC 245
    Length:245
    Mass (Da):25,107
    Last modified:February 16, 2004 - v1
    Checksum:i815BC4AD4A25285E
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti146 – 1461P → Q.
    Corresponds to variant rs35076450 [ dbSNP | Ensembl ].
    VAR_053465
    Natural varianti226 – 2261G → S.
    Corresponds to variant rs34302939 [ dbSNP | Ensembl ].
    VAR_053466

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB076364 mRNA. Translation: BAD01551.1.
    AL773604 Genomic DNA. No translation available.
    CH471079 Genomic DNA. Translation: EAX09404.1.
    BC137339 mRNA. Translation: AAI37340.1.
    BC137341 mRNA. Translation: AAI37342.1.
    CCDSiCCDS42967.1.
    RefSeqiNP_941972.1. NM_198699.1.
    UniGeneiHs.297526.

    Genome annotation databases

    EnsembliENST00000400365; ENSP00000383216; ENSG00000189169.
    GeneIDi386685.
    KEGGihsa:386685.
    UCSCiuc002zfw.1. human.

    Polymorphism databases

    DMDMi42558957.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB076364 mRNA. Translation: BAD01551.1 .
    AL773604 Genomic DNA. No translation available.
    CH471079 Genomic DNA. Translation: EAX09404.1 .
    BC137339 mRNA. Translation: AAI37340.1 .
    BC137341 mRNA. Translation: AAI37342.1 .
    CCDSi CCDS42967.1.
    RefSeqi NP_941972.1. NM_198699.1.
    UniGenei Hs.297526.

    3D structure databases

    ProteinModelPortali P60413.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000383216.

    Polymorphism databases

    DMDMi 42558957.

    Proteomic databases

    PaxDbi P60413.
    PeptideAtlasi P60413.
    PRIDEi P60413.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000400365 ; ENSP00000383216 ; ENSG00000189169 .
    GeneIDi 386685.
    KEGGi hsa:386685.
    UCSCi uc002zfw.1. human.

    Organism-specific databases

    CTDi 386685.
    GeneCardsi GC21P046117.
    HGNCi HGNC:20533. KRTAP10-12.
    neXtProti NX_P60413.
    PharmGKBi PA134977717.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG324830.
    HOGENOMi HOG000234031.
    HOVERGENi HBG108072.
    InParanoidi P60413.
    OMAi CAPSSCL.
    OrthoDBi EOG780RQD.
    TreeFami TF351356.

    Miscellaneous databases

    GenomeRNAii 386685.
    NextBioi 101020.
    PROi P60413.

    Gene expression databases

    Bgeei P60413.
    CleanExi HS_KRTAP10-12.
    Genevestigatori P60413.

    Family and domain databases

    InterProi IPR002494. KAP.
    [Graphical view ]
    PANTHERi PTHR23262. PTHR23262. 1 hit.
    Pfami PF13885. Keratin_B2_2. 2 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].
    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: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiKR10C_HUMAN
    AccessioniPrimary (citable) accession number: P60413
    Secondary accession number(s): B2RPA3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 16, 2004
    Last sequence update: February 16, 2004
    Last modified: October 1, 2014
    This is version 80 of the entry and version 1 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