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Q14CN4

- K2C72_HUMAN

UniProt

Q14CN4 - K2C72_HUMAN

Protein

Keratin, type II cytoskeletal 72

Gene

KRT72

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
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    Functioni

    Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle Probable.Curated

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei376 – 3761Stutter

    GO - Molecular functioni

    1. structural molecule activity Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type II cytoskeletal 72
    Alternative name(s):
    Cytokeratin-72
    Short name:
    CK-72
    Keratin-72
    Short name:
    K72
    Type II inner root sheath-specific keratin-K6irs2
    Type-II keratin Kb35
    Gene namesi
    Name:KRT72
    Synonyms:K6IRS2, KB35, KRT6, KRT6IRS2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:28932. KRT72.

    Subcellular locationi

    GO - Cellular componenti

    1. keratin filament Source: InterPro

    Keywords - Cellular componenti

    Intermediate filament, Keratin

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA147357719.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 511511Keratin, type II cytoskeletal 72PRO_0000314877Add
    BLAST

    Proteomic databases

    MaxQBiQ14CN4.
    PaxDbiQ14CN4.
    PRIDEiQ14CN4.

    PTM databases

    PhosphoSiteiQ14CN4.

    Expressioni

    Tissue specificityi

    Highly expressed in hair follicles from scalp and eyebrow. Also expressed in palmoplantar epidermis. Not expressed in face skin despite the presence of fine hairs histologically. In hair, it is specifically present in the inner root sheath (IRS) of the hair follicle. Present in the IRS cuticle, but not in Henle or Huxley layers of the IRS. In the IRS cuticle, its presence is delayed up to the height of the apex of the dermal papilla (at protein level).3 Publications

    Gene expression databases

    ArrayExpressiQ14CN4.
    BgeeiQ14CN4.
    CleanExiHS_KRT72.
    GenevestigatoriQ14CN4.

    Interactioni

    Subunit structurei

    Heterotetramer of two type I and two type II keratins.

    Protein-protein interaction databases

    BioGridi126715. 3 interactions.
    IntActiQ14CN4. 1 interaction.
    STRINGi9606.ENSP00000293745.

    Structurei

    3D structure databases

    ProteinModelPortaliQ14CN4.
    SMRiQ14CN4. Positions 122-275, 339-432.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 124124HeadAdd
    BLAST
    Regioni125 – 434310RodAdd
    BLAST
    Regioni125 – 16036Coil 1AAdd
    BLAST
    Regioni161 – 17919Linker 1Add
    BLAST
    Regioni180 – 27192Coil 1BAdd
    BLAST
    Regioni272 – 29524Linker 12Add
    BLAST
    Regioni296 – 434139Coil 2Add
    BLAST
    Regioni435 – 51177TailAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi10 – 9687Gly-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG149371.
    HOGENOMiHOG000230976.
    HOVERGENiHBG013015.
    InParanoidiQ14CN4.
    KOiK07605.
    OMAiYEVEINK.
    OrthoDBiEOG7P2XRX.
    PhylomeDBiQ14CN4.
    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]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q14CN4-1) [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

    MSRQLTHFPR GERLGFSGCS AVLSGGIGSS SASFRARVKG SASFGSKSLS    50
    CLGGSRSLAL SAAARRGGGR LGGFVGTAFG SAGLGPKCPS VCPPGGIPQV 100
    TVNKSLLAPL NVEMDPEIQR VRAQEREQIK ALNNKFASFI DKVRFLEQQN 150
    QVLETKWNLL QQLDLNNCRK NLEPIYEGYI SNLQKQLEML SGDGVRLDSE 200
    LRNMQDLVED YKKRYEVEIN RRTAAENEFV VLKKDVDAAY MNKVELQAKV 250
    DSLTDEIKFF KCLYEGEITQ IQSHISDTSI VLSMDNNRDL DLDSIIAEVR 300
    AQYEEIALKS KAEAETLYQT KIQELQVTAG QHGDDLKLTK AEISELNRLI 350
    QRIRSEIGNV KKQCADLETA IADAEQRGDC ALKDARAKLD ELEGALHQAK 400
    EELARMLREY QELVSLKLAL DMEIATYRKL LESEECRMSG EYPNSVSISV 450
    ISSTNAGAGG AGFSMGFGAS SSYSYKTAAA DVKTKGSCGS ELKDPLAKTS 500
    GSSCATKKAS R 511
    Length:511
    Mass (Da):55,877
    Last modified:January 15, 2008 - v2
    Checksum:i61E830C382063731
    GO
    Isoform 2 (identifier: Q14CN4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         363-363: Missing.

    Show »
    Length:510
    Mass (Da):55,749
    Checksum:i93AAAF9D75378EE7
    GO
    Isoform 3 (identifier: Q14CN4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         322-363: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:469
    Mass (Da):51,124
    Checksum:i297E42CB2BED56C8
    GO

    Sequence cautioni

    The sequence BAC04039.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti171 – 1711N → D.1 Publication
    Corresponds to variant rs11170187 [ dbSNP | Ensembl ].
    VAR_038087
    Natural varianti264 – 2641Y → C.1 Publication
    Corresponds to variant rs12833456 [ dbSNP | Ensembl ].
    VAR_038088
    Natural varianti326 – 3261Q → E.
    Corresponds to variant rs34769047 [ dbSNP | Ensembl ].
    VAR_061298
    Natural varianti366 – 3661D → E.1 Publication
    Corresponds to variant rs7310138 [ dbSNP | Ensembl ].
    VAR_038089
    Natural varianti428 – 4281R → L.1 Publication
    Corresponds to variant rs11170183 [ dbSNP | Ensembl ].
    VAR_038090

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei322 – 36342Missing in isoform 3. 1 PublicationVSP_045280Add
    BLAST
    Alternative sequencei363 – 3631Missing in isoform 2. 1 PublicationVSP_030416

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY033496 Genomic DNA. Translation: AAK55109.1.
    AY033495 mRNA. Translation: AAK55108.1.
    AK093060 mRNA. Translation: BAC04039.1. Different initiation.
    AK293645 mRNA. Translation: BAG57099.1.
    AC055715 Genomic DNA. No translation available.
    BC113686 mRNA. Translation: AAI13687.1.
    CCDSiCCDS53795.1. [Q14CN4-3]
    CCDS8833.1. [Q14CN4-1]
    RefSeqiNP_001139697.1. NM_001146225.1. [Q14CN4-1]
    NP_001139698.1. NM_001146226.1. [Q14CN4-3]
    NP_542785.1. NM_080747.2. [Q14CN4-1]
    UniGeneiHs.662013.

    Genome annotation databases

    EnsembliENST00000293745; ENSP00000293745; ENSG00000170486. [Q14CN4-1]
    ENST00000354310; ENSP00000346269; ENSG00000170486. [Q14CN4-3]
    ENST00000537672; ENSP00000441160; ENSG00000170486. [Q14CN4-1]
    GeneIDi140807.
    KEGGihsa:140807.
    UCSCiuc001saq.2. human. [Q14CN4-1]

    Polymorphism databases

    DMDMi166218813.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY033496 Genomic DNA. Translation: AAK55109.1 .
    AY033495 mRNA. Translation: AAK55108.1 .
    AK093060 mRNA. Translation: BAC04039.1 . Different initiation.
    AK293645 mRNA. Translation: BAG57099.1 .
    AC055715 Genomic DNA. No translation available.
    BC113686 mRNA. Translation: AAI13687.1 .
    CCDSi CCDS53795.1. [Q14CN4-3 ]
    CCDS8833.1. [Q14CN4-1 ]
    RefSeqi NP_001139697.1. NM_001146225.1. [Q14CN4-1 ]
    NP_001139698.1. NM_001146226.1. [Q14CN4-3 ]
    NP_542785.1. NM_080747.2. [Q14CN4-1 ]
    UniGenei Hs.662013.

    3D structure databases

    ProteinModelPortali Q14CN4.
    SMRi Q14CN4. Positions 122-275, 339-432.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126715. 3 interactions.
    IntActi Q14CN4. 1 interaction.
    STRINGi 9606.ENSP00000293745.

    PTM databases

    PhosphoSitei Q14CN4.

    Polymorphism databases

    DMDMi 166218813.

    Proteomic databases

    MaxQBi Q14CN4.
    PaxDbi Q14CN4.
    PRIDEi Q14CN4.

    Protocols and materials databases

    DNASUi 140807.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000293745 ; ENSP00000293745 ; ENSG00000170486 . [Q14CN4-1 ]
    ENST00000354310 ; ENSP00000346269 ; ENSG00000170486 . [Q14CN4-3 ]
    ENST00000537672 ; ENSP00000441160 ; ENSG00000170486 . [Q14CN4-1 ]
    GeneIDi 140807.
    KEGGi hsa:140807.
    UCSCi uc001saq.2. human. [Q14CN4-1 ]

    Organism-specific databases

    CTDi 140807.
    GeneCardsi GC12M052979.
    H-InvDB HIX0010656.
    HGNCi HGNC:28932. KRT72.
    MIMi 608246. gene.
    neXtProti NX_Q14CN4.
    PharmGKBi PA147357719.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149371.
    HOGENOMi HOG000230976.
    HOVERGENi HBG013015.
    InParanoidi Q14CN4.
    KOi K07605.
    OMAi YEVEINK.
    OrthoDBi EOG7P2XRX.
    PhylomeDBi Q14CN4.
    TreeFami TF317854.

    Miscellaneous databases

    GenomeRNAii 140807.
    NextBioi 84411.
    PROi Q14CN4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q14CN4.
    Bgeei Q14CN4.
    CleanExi HS_KRT72.
    Genevestigatori Q14CN4.

    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. "Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans."
      Porter R.M., Corden L.D., Lunny D.P., Smith F.J.D., Lane E.B., McLean W.H.I.
      Br. J. Dermatol. 145:558-568(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
    2. "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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-511, VARIANTS ASP-171; CYS-264 AND LEU-428.
      Tissue: Cerebellum and Testis.
    3. "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].
    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] (ISOFORM 1), VARIANT GLU-366.
      Tissue: Brain.
    5. "K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle."
      Langbein L., Rogers M.A., Praetzel S., Winter H., Schweizer J.
      J. Invest. Dermatol. 120:512-522(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    6. "K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4) represent the type I inner root sheath keratins of the human hair follicle."
      Langbein L., Rogers M.A., Praetzel-Wunder S., Helmke B., Schirmacher P., Schweizer J.
      J. Invest. Dermatol. 126:2377-2386(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiK2C72_HUMAN
    AccessioniPrimary (citable) accession number: Q14CN4
    Secondary accession number(s): B4DEI8
    , H9KV51, Q8NA87, Q8WWY9, Q8WWZ0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: January 15, 2008
    Last modified: October 1, 2014
    This is version 79 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 cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

    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