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Q9BQ66

- KR412_HUMAN

UniProt

Q9BQ66 - KR412_HUMAN

Protein

Keratin-associated protein 4-12

Gene

KRTAP4-12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      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.

    GO - Molecular functioni

    1. protein binding Source: IntAct

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin-associated protein 4-12
    Alternative name(s):
    Keratin-associated protein 4.12
    Ultrahigh sulfur keratin-associated protein 4.12
    Gene namesi
    Name:KRTAP4-12
    Synonyms:KAP4.12, KRTAP4.12
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:16776. KRTAP4-12.

    Subcellular locationi

    GO - Cellular componenti

    1. keratin filament Source: InterPro

    Keywords - Cellular componenti

    Keratin

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38416.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 201201Keratin-associated protein 4-12PRO_0000185178Add
    BLAST

    Proteomic databases

    PaxDbiQ9BQ66.
    PRIDEiQ9BQ66.

    Expressioni

    Tissue specificityi

    Expressed in the hair follicles.1 Publication

    Gene expression databases

    BgeeiQ9BQ66.
    CleanExiHS_KRTAP4-12.
    GenevestigatoriQ9BQ66.

    Interactioni

    Subunit structurei

    Interacts with hair keratins.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Hoxa1P090224EBI-739863,EBI-3957603From a different organism.

    Protein-protein interaction databases

    BioGridi123756. 77 interactions.
    IntActiQ9BQ66. 75 interactions.
    MINTiMINT-1441052.
    STRINGi9606.ENSP00000377582.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BQ66.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati5 – 951
    Repeati20 – 2452
    Repeati25 – 2953
    Repeati30 – 3454
    Repeati35 – 3955
    Repeati40 – 4456
    Repeati45 – 4957
    Repeati50 – 5458
    Repeati55 – 5959
    Repeati60 – 64510
    Repeati65 – 69511
    Repeati70 – 74512
    Repeati75 – 79513
    Repeati80 – 84514
    Repeati85 – 89515
    Repeati90 – 94516
    Repeati95 – 99517
    Repeati100 – 104518
    Repeati105 – 109519
    Repeati110 – 114520
    Repeati115 – 119521
    Repeati120 – 124522
    Repeati125 – 129523
    Repeati130 – 134524
    Repeati135 – 139525
    Repeati140 – 144526
    Repeati145 – 149527
    Repeati155 – 159528
    Repeati160 – 164529
    Repeati165 – 169530

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni5 – 16916531 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]-[VSTQPC]Add
    BLAST

    Sequence similaritiesi

    Belongs to the KRTAP type 4 family.Curated

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG12793.
    HOGENOMiHOG000234030.
    InParanoidiQ9BQ66.
    OMAiSCRPNYV.
    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.

    Q9BQ66-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVNSCCGSVC SDQGCGLENC CRPSCCQTTC CRTTCCRPSC CVSSCCRPQC    50
    CQSVCCQPTC CRPSCCQTTC CRTTCCRPSC CVSSCCRPQC CQSVCCQPTC 100
    CRPSCCQTTC CRTTCCRPSC CVSSCCRPQC CQSVCCQPTC CRPSCCISSS 150
    CCPSCCESSC CRPCCCLRPV CGRVSCHTTC YRPTCVISTC PRPLCCASSC 200
    C 201
    Length:201
    Mass (Da):21,407
    Last modified:June 1, 2001 - v1
    Checksum:i7548ED69BF432804
    GO

    Polymorphismi

    Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti105 – 14440Missing in allele KAP4.12-v1. 1 Publication
    VAR_064563Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ406943 mRNA. Translation: CAC27582.1.
    AC100808 Genomic DNA. No translation available.
    BC004180 mRNA. Translation: AAH04180.1.
    BC004212 mRNA. Translation: AAH04212.1.
    BC101159 mRNA. Translation: AAI01160.1.
    BC101160 mRNA. Translation: AAI01161.1.
    BC101162 mRNA. Translation: AAI01163.1.
    CCDSiCCDS32649.1.
    RefSeqiNP_114060.1. NM_031854.2.
    UniGeneiHs.572443.

    Genome annotation databases

    EnsembliENST00000394014; ENSP00000377582; ENSG00000213416.
    ENST00000571271; ENSP00000458979; ENSG00000263236.
    GeneIDi83755.
    KEGGihsa:83755.
    UCSCiuc002hwa.3. human.

    Polymorphism databases

    DMDMi38258229.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ406943 mRNA. Translation: CAC27582.1 .
    AC100808 Genomic DNA. No translation available.
    BC004180 mRNA. Translation: AAH04180.1 .
    BC004212 mRNA. Translation: AAH04212.1 .
    BC101159 mRNA. Translation: AAI01160.1 .
    BC101160 mRNA. Translation: AAI01161.1 .
    BC101162 mRNA. Translation: AAI01163.1 .
    CCDSi CCDS32649.1.
    RefSeqi NP_114060.1. NM_031854.2.
    UniGenei Hs.572443.

    3D structure databases

    ProteinModelPortali Q9BQ66.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123756. 77 interactions.
    IntActi Q9BQ66. 75 interactions.
    MINTi MINT-1441052.
    STRINGi 9606.ENSP00000377582.

    Polymorphism databases

    DMDMi 38258229.

    Proteomic databases

    PaxDbi Q9BQ66.
    PRIDEi Q9BQ66.

    Protocols and materials databases

    DNASUi 83755.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000394014 ; ENSP00000377582 ; ENSG00000213416 .
    ENST00000571271 ; ENSP00000458979 ; ENSG00000263236 .
    GeneIDi 83755.
    KEGGi hsa:83755.
    UCSCi uc002hwa.3. human.

    Organism-specific databases

    CTDi 83755.
    GeneCardsi GC17M039280.
    HGNCi HGNC:16776. KRTAP4-12.
    neXtProti NX_Q9BQ66.
    PharmGKBi PA38416.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    HOGENOMi HOG000234030.
    InParanoidi Q9BQ66.
    OMAi SCRPNYV.
    TreeFami TF351356.

    Miscellaneous databases

    GenomeRNAii 83755.
    NextBioi 72781.
    PROi Q9BQ66.

    Gene expression databases

    Bgeei Q9BQ66.
    CleanExi HS_KRTAP4-12.
    Genevestigatori Q9BQ66.

    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. "Characterization of a cluster of human high/ultrahigh sulfur keratin-associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21."
      Rogers M.A., Langbein L., Winter H., Ehmann C., Praetzel S., Korn B., Schweizer J.
      J. Biol. Chem. 276:19440-19451(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Scalp.
    2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [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].
      Tissue: Muscle.
    4. "Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family."
      Kariya N., Shimomura Y., Ito M.
      J. Invest. Dermatol. 124:1111-1118(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, POLYMORPHISM, VARIANT 105-CYS--SER-144 DEL.

    Entry informationi

    Entry nameiKR412_HUMAN
    AccessioniPrimary (citable) accession number: Q9BQ66
    Secondary accession number(s): A3KMC5, Q495I0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2003
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 91 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 17
      Human chromosome 17: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3