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Q14533

- KRT81_HUMAN

UniProt

Q14533 - KRT81_HUMAN

Protein

Keratin, type II cuticular Hb1

Gene

KRT81

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 3 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. structural molecule activity Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type II cuticular Hb1
    Alternative name(s):
    Hair keratin K2.9
    Keratin, hair, basic, 1
    Keratin-81
    Short name:
    K81
    Metastatic lymph node 137 gene protein
    Short name:
    MLN 137
    Type II hair keratin Hb1
    Type-II keratin Kb21
    ghHKb1
    Short name:
    ghHb1
    Gene namesi
    Name:KRT81
    Synonyms:KRTHB1, MLN137
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:6458. KRT81.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular space Source: UniProt
    2. keratin filament Source: InterPro

    Keywords - Cellular componenti

    Intermediate filament, Keratin

    Pathology & Biotechi

    Involvement in diseasei

    Monilethrix (MLTRX) [MIM:158000]: Autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti402 – 4021E → K in MLTRX. 1 Publication
    Corresponds to variant rs56821304 [ dbSNP | Ensembl ].
    VAR_018116
    Natural varianti413 – 4131E → K in MLTRX. 1 Publication
    Corresponds to variant rs57419521 [ dbSNP | Ensembl ].
    VAR_018117

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi158000. phenotype.
    Orphaneti573. Monilethrix.
    PharmGKBiPA30247.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 505505Keratin, type II cuticular Hb1PRO_0000063696Add
    BLAST

    Proteomic databases

    MaxQBiQ14533.
    PaxDbiQ14533.
    PRIDEiQ14533.

    PTM databases

    PhosphoSiteiQ14533.

    Expressioni

    Tissue specificityi

    Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla. Expressed in malignant lymph node tissue in breast carcinoma tissue.3 Publications

    Gene expression databases

    ArrayExpressiQ14533.
    BgeeiQ14533.
    CleanExiHS_KRT81.
    GenevestigatoriQ14533.

    Interactioni

    Subunit structurei

    Heterotetramer of two type I and two type II keratins.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Hoxa1P090223EBI-739648,EBI-3957603From a different organism.
    KXD1Q9BQD32EBI-739648,EBI-739657

    Protein-protein interaction databases

    BioGridi110085. 10 interactions.
    IntActiQ14533. 6 interactions.
    MINTiMINT-1184731.
    STRINGi9606.ENSP00000369349.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14533.
    SMRiQ14533. Positions 106-254, 272-412.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 106106HeadAdd
    BLAST
    Regioni107 – 413307RodAdd
    BLAST
    Regioni107 – 14135Coil 1AAdd
    BLAST
    Regioni142 – 15110Linker 1
    Regioni152 – 252101Coil 1BAdd
    BLAST
    Regioni253 – 26917Linker 12Add
    BLAST
    Regioni270 – 413144Coil 2Add
    BLAST
    Regioni414 – 50592TailAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG149039.
    HOGENOMiHOG000230976.
    HOVERGENiHBG013015.
    InParanoidiQ14533.
    KOiK07605.
    OMAiCGFSTVG.
    OrthoDBiEOG7B05CW.
    PhylomeDBiQ14533.
    TreeFamiTF317854.

    Family and domain databases

    InterProiIPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR003054. Keratin_II.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    [Graphical view]
    PRINTSiPR01276. TYPE2KERATIN.
    PROSITEiPS00226. IF. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q14533-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTCGSGFGGR AFSCISACGP RPGRCCITAA PYRGISCYRG LTGGFGSHSV    50
    CGGFRAGSCG RSFGYRSGGV CGPSPPCITT VSVNESLLTP LNLEIDPNAQ 100
    CVKQEEKEQI KSLNSRFAAF IDKVRFLEQQ NKLLETKLQF YQNRECCQSN 150
    LEPLFEGYIE TLRREAECVE ADSGRLASEL NHVQEVLEGY KKKYEEEVSL 200
    RATAENEFVA LKKDVDCAYL RKSDLEANVE ALIQEIDFLR RLYEEEILIL 250
    QSHISDTSVV VKLDNSRDLN MDCIIAEIKA QYDDIVTRSR AEAESWYRSK 300
    CEEMKATVIR HGETLRRTKE EINELNRMIQ RLTAEVENAK CQNSKLEAAV 350
    AQSEQQGEAA LSDARCKLAE LEGALQKAKQ DMACLIREYQ EVMNSKLGLD 400
    IEIATYRRLL EGEEQRLCEG IGAVNVCVSS SRGGVVCGDL CVSGSRPVTG 450
    SVCSAPCNGN VAVSTGLCAP CGQLNTTCGG GSCGVGSCGI SSLGVGSCGS 500
    SCRKC 505
    Length:505
    Mass (Da):54,928
    Last modified:November 2, 2010 - v3
    Checksum:i6CD174038C3B6C27
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti139 – 1391Q → P in AAI17468. (PubMed:15489334)Curated
    Sequence conflicti139 – 1391Q → P in AAI17466. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti52 – 521G → R.
    Corresponds to variant rs2071588 [ dbSNP | Ensembl ].
    VAR_018113
    Natural varianti248 – 2481L → R.3 Publications
    Corresponds to variant rs6580873 [ dbSNP | Ensembl ].
    VAR_018114
    Natural varianti316 – 3161R → C.
    Corresponds to variant rs4761786 [ dbSNP | Ensembl ].
    VAR_018115
    Natural varianti402 – 4021E → K in MLTRX. 1 Publication
    Corresponds to variant rs56821304 [ dbSNP | Ensembl ].
    VAR_018116
    Natural varianti413 – 4131E → K in MLTRX. 1 Publication
    Corresponds to variant rs57419521 [ dbSNP | Ensembl ].
    VAR_018117

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y13621 Genomic DNA. Translation: CAA73943.1.
    AC121757 Genomic DNA. No translation available.
    BC006452 mRNA. Translation: AAH06452.1.
    BC021241 mRNA. Translation: AAH21241.1.
    BC117465 mRNA. Translation: AAI17466.1.
    BC117467 mRNA. Translation: AAI17468.1.
    X81420 mRNA. Translation: CAA57180.1.
    X80197 mRNA. Translation: CAA56488.1.
    S75796 Genomic DNA. Translation: AAB32813.1.
    CCDSiCCDS31805.1.
    PIRiI38025.
    RefSeqiNP_002272.2. NM_002281.3.
    UniGeneiHs.658118.

    Genome annotation databases

    EnsembliENST00000327741; ENSP00000369349; ENSG00000205426.
    GeneIDi3887.
    KEGGihsa:3887.
    UCSCiuc001sab.3. human.

    Polymorphism databases

    DMDMi311033435.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Human Intermediate Filament Mutation Database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    Y13621 Genomic DNA. Translation: CAA73943.1 .
    AC121757 Genomic DNA. No translation available.
    BC006452 mRNA. Translation: AAH06452.1 .
    BC021241 mRNA. Translation: AAH21241.1 .
    BC117465 mRNA. Translation: AAI17466.1 .
    BC117467 mRNA. Translation: AAI17468.1 .
    X81420 mRNA. Translation: CAA57180.1 .
    X80197 mRNA. Translation: CAA56488.1 .
    S75796 Genomic DNA. Translation: AAB32813.1 .
    CCDSi CCDS31805.1.
    PIRi I38025.
    RefSeqi NP_002272.2. NM_002281.3.
    UniGenei Hs.658118.

    3D structure databases

    ProteinModelPortali Q14533.
    SMRi Q14533. Positions 106-254, 272-412.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110085. 10 interactions.
    IntActi Q14533. 6 interactions.
    MINTi MINT-1184731.
    STRINGi 9606.ENSP00000369349.

    PTM databases

    PhosphoSitei Q14533.

    Polymorphism databases

    DMDMi 311033435.

    Proteomic databases

    MaxQBi Q14533.
    PaxDbi Q14533.
    PRIDEi Q14533.

    Protocols and materials databases

    DNASUi 3887.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000327741 ; ENSP00000369349 ; ENSG00000205426 .
    GeneIDi 3887.
    KEGGi hsa:3887.
    UCSCi uc001sab.3. human.

    Organism-specific databases

    CTDi 3887.
    GeneCardsi GC12M052679.
    H-InvDB HIX0036779.
    HGNCi HGNC:6458. KRT81.
    MIMi 158000. phenotype.
    602153. gene.
    neXtProti NX_Q14533.
    Orphaneti 573. Monilethrix.
    PharmGKBi PA30247.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149039.
    HOGENOMi HOG000230976.
    HOVERGENi HBG013015.
    InParanoidi Q14533.
    KOi K07605.
    OMAi CGFSTVG.
    OrthoDBi EOG7B05CW.
    PhylomeDBi Q14533.
    TreeFami TF317854.

    Miscellaneous databases

    GeneWikii KRT81.
    GenomeRNAii 3887.
    NextBioi 15259.
    PROi Q14533.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14533.
    Bgeei Q14533.
    CleanExi HS_KRT81.
    Genevestigatori Q14533.

    Family and domain databases

    InterProi IPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR003054. Keratin_II.
    [Graphical view ]
    PANTHERi PTHR23239. PTHR23239. 1 hit.
    Pfami PF00038. Filament. 1 hit.
    [Graphical view ]
    PRINTSi PR01276. TYPE2KERATIN.
    PROSITEi PS00226. IF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle."
      Bowden P.E., Hainey S.D., Parker G., Jones D.O., Zimonjic D., Popescu N., Hodgins M.B.
      J. Invest. Dermatol. 110:158-164(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, VARIANT ARG-248.
      Tissue: Scalp.
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(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], VARIANT ARG-248.
      Tissue: Lung.
    4. "Sequence data and chromosomal localization of human type I and type II hair keratin genes."
      Rogers M.A., Nischt R., Korge B., Krieg T., Fink T.M., Lichter P., Winter H., Schweizer J.
      Exp. Cell Res. 220:357-362(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 81-505, VARIANT ARG-248.
      Tissue: Scalp.
    5. "Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17."
      Tomasetto C.L., Regnier C.H., Moog-Lutz C., Mattei M.-G., Chenard M.-P., Lidereau R., Basset P., Rio M.-C.
      Genomics 28:367-376(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 249-505, TISSUE SPECIFICITY.
      Tissue: Mammary carcinoma.
    6. "Sequence and expression of human hair keratin genes."
      Bowden P.E., Hainey S., Parker G., Hodgins M.B.
      J. Dermatol. Sci. 7:S152-S163(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 390-470, TISSUE SPECIFICITY.
    7. "A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix."
      Winter H., Rogers M.A., Gebhardt M., Wollina U., Boxall L., Chitayat D., Babul-Hirji R., Stevens H.P., Zlotogorski A., Schweizer J.
      Hum. Genet. 101:165-169(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MLTRX LYS-413.
    8. "A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1."
      Winter H., Labreze C., Chapalain V., Surleve-Bazeille J.E., Mercier M., Rogers M.A., Taieb A., Schweizer J.
      J. Invest. Dermatol. 111:169-172(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MLTRX LYS-402.

    Entry informationi

    Entry nameiKRT81_HUMAN
    AccessioniPrimary (citable) accession number: Q14533
    Secondary accession number(s): Q14846
    , Q16274, Q17R48, Q8WU52, Q9BR74
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 29, 2004
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 124 of the entry and version 3 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

    Miscellaneous

    There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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