Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q7RTS7

- K2C74_HUMAN

UniProt

Q7RTS7 - K2C74_HUMAN

Protein

Keratin, type II cytoskeletal 74

Gene

KRT74

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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
    Sitei391 – 3911Stutter

    GO - Molecular functioni

    1. keratin filament binding Source: UniProt
    2. structural molecule activity Source: InterPro

    GO - Biological processi

    1. intermediate filament cytoskeleton organization Source: UniProt

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type II cytoskeletal 74
    Alternative name(s):
    Cytokeratin-74
    Short name:
    CK-74
    Keratin-5c
    Short name:
    K5C
    Keratin-74
    Short name:
    K74
    Type II inner root sheath-specific keratin-K6irs4
    Type-II keratin Kb37
    Gene namesi
    Name:KRT74
    Synonyms:K6IRS4, KB37, KRT5C, KRT6IRS4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:28929. KRT74.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProt
    2. keratin filament Source: InterPro

    Keywords - Cellular componenti

    Intermediate filament, Keratin

    Pathology & Biotechi

    Involvement in diseasei

    Woolly hair autosomal dominant (ADWH) [MIM:194300]: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti148 – 1481N → K in ADWH; results in disruption of keratin intermediate filament formation in cultured cells. 1 Publication
    VAR_063587
    Hypotrichosis 3 (HYPT3) [MIM:613981]: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti482 – 4821D → N in HYPT3. 1 Publication
    VAR_065951

    Keywords - Diseasei

    Disease mutation, Hypotrichosis

    Organism-specific databases

    MIMi194300. phenotype.
    613981. phenotype.
    Orphaneti90368. Hypotrichosis simplex of the scalp.
    170. Woolly hair.
    PharmGKBiPA147357741.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 529529Keratin, type II cytoskeletal 74PRO_0000314885Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei513 – 5131Phosphothreonine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ7RTS7.
    PaxDbiQ7RTS7.
    PRIDEiQ7RTS7.

    PTM databases

    PhosphoSiteiQ7RTS7.

    Expressioni

    Tissue specificityi

    Highly expressed in hair follicles from scalp. In hair, it is specifically present in the inner root sheath (IRS) of the hair follicle. Present in the IRS Huxley layer, but not in Henle layer or cuticle of the IRS. In the IRS Huxley layer, it is expressed in specialized Huxley cells, termed 'Fluegelzellen, along the area of differentiated Henle cells (at protein level).2 Publications

    Gene expression databases

    ArrayExpressiQ7RTS7.
    BgeeiQ7RTS7.
    CleanExiHS_KRT74.
    GenevestigatoriQ7RTS7.

    Organism-specific databases

    HPAiHPA048596.

    Interactioni

    Subunit structurei

    Heterotetramer of two type I and two type II keratins.

    Protein-protein interaction databases

    BioGridi125727. 3 interactions.
    STRINGi9606.ENSP00000307240.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7RTS7.
    SMRiQ7RTS7. Positions 137-287, 306-448.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 139139HeadAdd
    BLAST
    Regioni140 – 449310RodAdd
    BLAST
    Regioni140 – 17536Coil 1AAdd
    BLAST
    Regioni176 – 19419Linker 1Add
    BLAST
    Regioni195 – 28692Coil 1BAdd
    BLAST
    Regioni287 – 31024Linker 12Add
    BLAST
    Regioni311 – 449139Coil 2Add
    BLAST
    Regioni450 – 52980TailAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi10 – 111102Gly-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG266742.
    HOGENOMiHOG000230976.
    HOVERGENiHBG013015.
    KOiK07605.
    PhylomeDBiQ7RTS7.
    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.

    Q7RTS7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSRQLNIKSS GDKGNFSVHS AVVPRKAVGS LASYCAAGRG AGAGFGSRSL    50
    YSLGGNRRIS FNVAGGGVRA GGYGFRPGSG YGGGRASGFA GSMFGSVALG 100
    PACLSVCPPG GIHQVTVNKS LLAPLNVELD PEIQKVRAQE REQIKVLNDK 150
    FASFIDKVRF LEQQNQVLET KWELLQQLDL NNCKKNLEPI LEGYISNLRK 200
    QLETLSGDRV RLDSELRSMR DLVEDYKKRY EVEINRRTTA ENEFVVLKKD 250
    ADAAYAVKVE LQAKVDSLDK EIKFLKCLYD AEIAQIQTHA SETSVILSMD 300
    NNRDLDLDSI IAEVRMHYEE IALKSKAEAE ALYQTKIQEL QLAASRHGDD 350
    LKHTRSEMVE LNRLIQRIRC EIGNVKKQRA SLETAIADAE QRGDNALKDA 400
    QAKLDELEGA LHQAKEELAR MLREYQELMS LKLALDMEIA TYRKLLEGEE 450
    CRMSGENPSS VSISVISSSS YSYHHPSSAG VDLGASAVAG SSGSTQSGQT 500
    KTTEARGGDL KDTQGKSTPA SIPARKATR 529
    Length:529
    Mass (Da):57,865
    Last modified:January 15, 2008 - v2
    Checksum:iCE81527DD4825CBF
    GO

    Sequence cautioni

    The sequence DAA00404.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti148 – 1481N → K in ADWH; results in disruption of keratin intermediate filament formation in cultured cells. 1 Publication
    VAR_063587
    Natural varianti165 – 1651N → K.
    Corresponds to variant rs11170177 [ dbSNP | Ensembl ].
    VAR_038096
    Natural varianti178 – 1781L → Q.
    Corresponds to variant rs11170176 [ dbSNP | Ensembl ].
    VAR_049806
    Natural varianti271 – 2711E → D.2 Publications
    Corresponds to variant rs670741 [ dbSNP | Ensembl ].
    VAR_038097
    Natural varianti392 – 3921R → Q.
    Corresponds to variant rs57387512 [ dbSNP | Ensembl ].
    VAR_061299
    Natural varianti424 – 4241E → K.
    Corresponds to variant rs57711382 [ dbSNP | Ensembl ].
    VAR_061300
    Natural varianti482 – 4821D → N in HYPT3. 1 Publication
    VAR_065951

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ508777 mRNA. Translation: CAD48514.1.
    AC055715 Genomic DNA. No translation available.
    CH471054 Genomic DNA. Translation: EAW96637.1.
    BK000977 Genomic DNA. Translation: DAA00404.1. Sequence problems.
    CCDSiCCDS8832.1.
    RefSeqiNP_778223.2. NM_175053.3.
    UniGeneiHs.660125.

    Genome annotation databases

    EnsembliENST00000305620; ENSP00000307240; ENSG00000170484.
    GeneIDi121391.
    KEGGihsa:121391.
    UCSCiuc001sap.1. human.

    Polymorphism databases

    DMDMi166218812.

    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
    AJ508777 mRNA. Translation: CAD48514.1 .
    AC055715 Genomic DNA. No translation available.
    CH471054 Genomic DNA. Translation: EAW96637.1 .
    BK000977 Genomic DNA. Translation: DAA00404.1 . Sequence problems.
    CCDSi CCDS8832.1.
    RefSeqi NP_778223.2. NM_175053.3.
    UniGenei Hs.660125.

    3D structure databases

    ProteinModelPortali Q7RTS7.
    SMRi Q7RTS7. Positions 137-287, 306-448.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125727. 3 interactions.
    STRINGi 9606.ENSP00000307240.

    PTM databases

    PhosphoSitei Q7RTS7.

    Polymorphism databases

    DMDMi 166218812.

    Proteomic databases

    MaxQBi Q7RTS7.
    PaxDbi Q7RTS7.
    PRIDEi Q7RTS7.

    Protocols and materials databases

    DNASUi 121391.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000305620 ; ENSP00000307240 ; ENSG00000170484 .
    GeneIDi 121391.
    KEGGi hsa:121391.
    UCSCi uc001sap.1. human.

    Organism-specific databases

    CTDi 121391.
    GeneCardsi GC12M052959.
    H-InvDB HIX0036697.
    HGNCi HGNC:28929. KRT74.
    HPAi HPA048596.
    MIMi 194300. phenotype.
    608248. gene.
    613981. phenotype.
    neXtProti NX_Q7RTS7.
    Orphaneti 90368. Hypotrichosis simplex of the scalp.
    170. Woolly hair.
    PharmGKBi PA147357741.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG266742.
    HOGENOMi HOG000230976.
    HOVERGENi HBG013015.
    KOi K07605.
    PhylomeDBi Q7RTS7.
    TreeFami TF317854.

    Miscellaneous databases

    GenomeRNAii 121391.
    NextBioi 80732.
    PROi Q7RTS7.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7RTS7.
    Bgeei Q7RTS7.
    CleanExi HS_KRT74.
    Genevestigatori Q7RTS7.

    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. "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: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT ASP-271.
      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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18."
      Hesse M., Magin T.M., Weber K.
      J. Cell Sci. 114:2569-2575(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION, VARIANT ASP-271.
    5. "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.
    6. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-513, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture."
      Shimomura Y., Wajid M., Petukhova L., Kurban M., Christiano A.M.
      Am. J. Hum. Genet. 86:632-638(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ADWH LYS-148, CHARACTERIZATION OF VARIANT ADWH LYS-148.
    8. "Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families."
      Wasif N., Naqvi S.K., Basit S., Ali N., Ansar M., Ahmad W.
      Hum. Genet. 129:419-424(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPT3 ASN-482.

    Entry informationi

    Entry nameiK2C74_HUMAN
    AccessioniPrimary (citable) accession number: Q7RTS7
    Secondary accession number(s): B5MD61, Q86Y45
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: January 15, 2008
    Last modified: October 1, 2014
    This is version 89 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