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P78385

- KRT83_HUMAN

UniProt

P78385 - KRT83_HUMAN

Protein

Keratin, type II cuticular Hb3

Gene

KRT83

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 2 (16 Dec 2008)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. structural molecule activity Source: InterPro

    GO - Biological processi

    1. aging Source: UniProt
    2. epidermis development Source: ProtInc
    3. hair cycle Source: UniProt

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type II cuticular Hb3
    Alternative name(s):
    Hair keratin K2.10
    Keratin-83
    Short name:
    K83
    Type II hair keratin Hb3
    Type-II keratin Kb23
    Gene namesi
    Name:KRT83
    Synonyms:KRTHB3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:6460. KRT83.

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti407 – 4071E → K in MLTRX. 1 Publication
    VAR_023052

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi158000. phenotype.
    Orphaneti573. Monilethrix.
    PharmGKBiPA30249.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 493493Keratin, type II cuticular Hb3PRO_0000063699Add
    BLAST

    Proteomic databases

    MaxQBiP78385.
    PaxDbiP78385.
    PeptideAtlasiP78385.
    PRIDEiP78385.

    PTM databases

    PhosphoSiteiP78385.

    Expressioni

    Tissue specificityi

    Synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla and ends abruptly in the middle of the cortex.1 Publication

    Gene expression databases

    ArrayExpressiP78385.
    BgeeiP78385.
    GenevestigatoriP78385.

    Organism-specific databases

    HPAiCAB004987.

    Interactioni

    Subunit structurei

    Heterotetramer of two type I and two type II keratins.

    Protein-protein interaction databases

    BioGridi110087. 3 interactions.
    STRINGi9606.ENSP00000293670.

    Structurei

    3D structure databases

    ProteinModelPortaliP78385.
    SMRiP78385. Positions 111-259, 277-417.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 111111HeadAdd
    BLAST
    Regioni112 – 418307RodAdd
    BLAST
    Regioni112 – 14635Coil 1AAdd
    BLAST
    Regioni147 – 15610Linker 1
    Regioni157 – 257101Coil 1BAdd
    BLAST
    Regioni258 – 27417Linker 12Add
    BLAST
    Regioni275 – 418144Coil 2Add
    BLAST
    Regioni419 – 49375TailAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG149039.
    HOGENOMiHOG000230976.
    HOVERGENiHBG013015.
    InParanoidiP78385.
    KOiK07605.
    OMAiCAPCNSI.
    OrthoDBiEOG7B05CW.
    PhylomeDBiP78385.
    TreeFamiTF317854.

    Family and domain databases

    InterProiIPR009030. Growth_fac_rcpt_N_dom.
    IPR001664. IF.
    IPR018039. Intermediate_filament_CS.
    IPR003054. Keratin_II.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    [Graphical view]
    PRINTSiPR01276. TYPE2KERATIN.
    SUPFAMiSSF57184. SSF57184. 2 hits.
    PROSITEiPS00226. IF. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P78385-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTCGFNSIGC GFRPGNFSCV SACGPRPSRC CITAAPYRGI SCYRGLTGGF    50
    GSHSVCGGFR AGSCGRSFGY RSGGVCGPSP PCITTVSVNE SLLTPLNLEI 100
    DPNAQCVKQE EKEQIKSLNS RFAAFIDKVR FLEQQNKLLE TKLQFYQNRE 150
    CCQSNLEPLF AGYIETLRRE AECVEADSGR LASELNHVQE VLEGYKKKYE 200
    EEVALRATAE NEFVALKKDV DCAYLRKSDL EANVEALIQE IDFLRRLYEE 250
    EIRILQSHIS DTSVVVKLDN SRDLNMDCIV AEIKAQYDDI ATRSRAEAES 300
    WYRSKCEEMK ATVIRHGETL RRTKEEINEL NRMIQRLTAE VENAKCQNSK 350
    LEAAVAQSEQ QGEAALSDAR CKLAELEGAL QKAKQDMACL IREYQEVMNS 400
    KLGLDIEIAT YRRLLEGEEQ RLCEGVEAVN VCVSSSRGGV VCGDLCVSGS 450
    RPVTGSVCSA PCNGNLVVST GLCKPCGQLN TTCGGGSCGQ GRH 493
    Length:493
    Mass (Da):54,195
    Last modified:December 16, 2008 - v2
    Checksum:i73BE2DA2C93F3EB6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti67 – 671S → D in CAA67578. (PubMed:9084137)Curated
    Sequence conflicti314 – 3141I → V in BAG37418. (PubMed:14702039)Curated
    Sequence conflicti473 – 4731C → R in BAG37418. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti149 – 1491R → C.2 Publications
    Corresponds to variant rs2857663 [ dbSNP | Ensembl ].
    VAR_018119
    Natural varianti279 – 2791I → M.2 Publications
    Corresponds to variant rs2852464 [ dbSNP | Ensembl ].
    VAR_018120
    Natural varianti407 – 4071E → K in MLTRX. 1 Publication
    VAR_023052
    Natural varianti493 – 4931H → Y.3 Publications
    Corresponds to variant rs2857671 [ dbSNP | Ensembl ].
    VAR_018121

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X99141 mRNA. Translation: CAA67578.1.
    Y19208 Genomic DNA. Translation: CAB76828.1.
    AK314904 mRNA. Translation: BAG37418.1.
    BC069546 mRNA. Translation: AAH69546.1.
    BC128063 mRNA. Translation: AAI28064.1.
    CCDSiCCDS8823.1.
    RefSeqiNP_002273.3. NM_002282.3.
    UniGeneiHs.720768.

    Genome annotation databases

    EnsembliENST00000293670; ENSP00000293670; ENSG00000170523.
    GeneIDi3889.
    KEGGihsa:3889.
    UCSCiuc001saf.2. human.

    Polymorphism databases

    DMDMi218511666.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X99141 mRNA. Translation: CAA67578.1 .
    Y19208 Genomic DNA. Translation: CAB76828.1 .
    AK314904 mRNA. Translation: BAG37418.1 .
    BC069546 mRNA. Translation: AAH69546.1 .
    BC128063 mRNA. Translation: AAI28064.1 .
    CCDSi CCDS8823.1.
    RefSeqi NP_002273.3. NM_002282.3.
    UniGenei Hs.720768.

    3D structure databases

    ProteinModelPortali P78385.
    SMRi P78385. Positions 111-259, 277-417.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110087. 3 interactions.
    STRINGi 9606.ENSP00000293670.

    PTM databases

    PhosphoSitei P78385.

    Polymorphism databases

    DMDMi 218511666.

    Proteomic databases

    MaxQBi P78385.
    PaxDbi P78385.
    PeptideAtlasi P78385.
    PRIDEi P78385.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000293670 ; ENSP00000293670 ; ENSG00000170523 .
    GeneIDi 3889.
    KEGGi hsa:3889.
    UCSCi uc001saf.2. human.

    Organism-specific databases

    CTDi 3889.
    GeneCardsi GC12M052708.
    H-InvDB HIX0036826.
    HIX0037211.
    HGNCi HGNC:6460. KRT83.
    HPAi CAB004987.
    MIMi 158000. phenotype.
    602765. gene.
    neXtProti NX_P78385.
    Orphaneti 573. Monilethrix.
    PharmGKBi PA30249.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149039.
    HOGENOMi HOG000230976.
    HOVERGENi HBG013015.
    InParanoidi P78385.
    KOi K07605.
    OMAi CAPCNSI.
    OrthoDBi EOG7B05CW.
    PhylomeDBi P78385.
    TreeFami TF317854.

    Miscellaneous databases

    GeneWikii KRT83.
    GenomeRNAii 3889.
    NextBioi 15267.
    PROi P78385.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P78385.
    Bgeei P78385.
    Genevestigatori P78385.

    Family and domain databases

    InterProi IPR009030. Growth_fac_rcpt_N_dom.
    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.
    SUPFAMi SSF57184. SSF57184. 2 hits.
    PROSITEi PS00226. IF. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Sequences and differential expression of three novel human type-II hair keratins."
      Rogers M.A., Langbein L., Praetzel S., Krieg T., Winter H., Schweizer J.
      Differentiation 61:187-194(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANTS CYS-149; MET-279 AND TYR-493.
      Tissue: Scalp.
    2. "Characterization of a 300 kbp region of human DNA containing the type II hair keratin."
      Rogers M.A., Winter H., Langbein L., Wolf C., Schweizer J.
      J. Invest. Dermatol. 114:464-472(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT TYR-493.
      Tissue: Cerebellum.
    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-149; MET-279 AND TYR-493.
    5. "A missense mutation in the type II hair keratin hHb3 is associated with monilethrix."
      van Steensel M.A., Steijlen P.M., Bladergroen R.S., Vermeer M., van Geel M.
      J. Med. Genet. 42:E19-E19(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MLTRX LYS-407.

    Entry informationi

    Entry nameiKRT83_HUMAN
    AccessioniPrimary (citable) accession number: P78385
    Secondary accession number(s): A1A4S9
    , B2RC21, Q6NT21, Q9NSB3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 29, 2004
    Last sequence update: December 16, 2008
    Last modified: October 1, 2014
    This is version 117 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

    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