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Q8N1N4

- K2C78_HUMAN

UniProt

Q8N1N4 - K2C78_HUMAN

Protein

Keratin, type II cytoskeletal 78

Gene

KRT78

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
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    Functioni

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei362 – 3621Stutter

    GO - Molecular functioni

    1. structural molecule activity Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Keratin, type II cytoskeletal 78
    Alternative name(s):
    Cytokeratin-78
    Short name:
    CK-78
    Keratin-5b
    Keratin-78
    Short name:
    K78
    Type-II keratin Kb40
    Gene namesi
    Name:KRT78
    Synonyms:K5B, KB40
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:28926. KRT78.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular space Source: UniProt
    2. extracellular vesicular exosome Source: UniProt
    3. keratin filament Source: InterPro

    Keywords - Cellular componenti

    Intermediate filament, Keratin

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA147357807.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 520520Keratin, type II cytoskeletal 78PRO_0000314891Add
    BLAST

    Proteomic databases

    MaxQBiQ8N1N4.
    PaxDbiQ8N1N4.
    PRIDEiQ8N1N4.

    Expressioni

    Tissue specificityi

    Expressed in tongue, but not in skin or in any other tissues or organs examined.1 Publication

    Gene expression databases

    ArrayExpressiQ8N1N4.
    BgeeiQ8N1N4.
    CleanExiHS_KRT78.
    GenevestigatoriQ8N1N4.

    Organism-specific databases

    HPAiHPA039724.

    Interactioni

    Subunit structurei

    Heterotetramer of two type I and two type II keratins.

    Protein-protein interaction databases

    BioGridi128199. 10 interactions.
    IntActiQ8N1N4. 3 interactions.
    STRINGi9606.ENSP00000306261.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N1N4.
    SMRiQ8N1N4. Positions 108-260, 325-419.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 110110HeadAdd
    BLAST
    Regioni111 – 421311RodAdd
    BLAST
    Regioni111 – 14636Coil 1AAdd
    BLAST
    Regioni147 – 16519Linker 1Add
    BLAST
    Regioni166 – 25893Coil 1BAdd
    BLAST
    Regioni259 – 28123Linker 12Add
    BLAST
    Regioni282 – 421140Coil 2Add
    BLAST
    Regioni422 – 52099TailAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi7 – 8276Gly-richAdd
    BLAST
    Compositional biasi430 – 50778Ser-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG146230.
    HOGENOMiHOG000230976.
    HOVERGENiHBG013015.
    KOiK07605.
    OMAiLNSFGGC.
    OrthoDBiEOG7FV3Q8.
    PhylomeDBiQ8N1N4.
    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 (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N1N4-1) [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

    MSLSPCRAQR GFSARSACSA RSRGRSRGGF SSRGGFSSRS LNSFGGCLEG    50
    SRGSTWGSGG RLGVRFGEWS GGPGLSLCPP GGIQEVTINQ NLLTPLKIEI 100
    DPQFQVVRTQ ETQEIRTLNN QFASFIDKVR FLEQQNKVLE TKWHLLQQQG 150
    LSGSQQGLEP VFEACLDQLR KQLEQLQGER GALDAELKAC RDQEEEYKSK 200
    YEEEAHRRAT LENDFVVLKK DVDGVFLSKM ELEGKLEALR EYLYFLKHLN 250
    EEELGQLQTQ ASDTSVVLSM DNNRYLDFSS IITEVRARYE EIARSSKAEA 300
    EALYQTKYQE LQVSAQLHGD RMQETKVQIS QLHQEIQRLQ SQTENLKKQN 350
    ASLQAAITDA EQRGELALKD AQAKVDELEA ALRMAKQNLA RLLCEYQELT 400
    STKLSLDVEI ATYRRLLEGE ECRMSGECTS QVTISSVGGS AVMSGGVGGG 450
    LGSTCGLGSG KGSPGSCCTS IVTGGSNIIL GSGKDPVLDS CSVSGSSAGS 500
    SCHTILKKTV ESSLKTSITY 520
    Length:520
    Mass (Da):56,866
    Last modified:January 15, 2008 - v2
    Checksum:i4502110AAA408E86
    GO
    Isoform 2 (identifier: Q8N1N4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-110: Missing.
         111-127: ETQEIRTLNNQFASFID → MEGHEASPAQVGQGDRG

    Note: No experimental confirmation available.

    Show »
    Length:410
    Mass (Da):45,017
    Checksum:iAF958D13D971A4A8
    GO

    Sequence cautioni

    The sequence DAA00377.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti250 – 2501N → S in CAI46001. (PubMed:17974005)Curated
    Sequence conflicti259 – 2591T → A in BAC04782. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251R → H.
    Corresponds to variant rs11170289 [ dbSNP | Ensembl ].
    VAR_038109
    Natural varianti92 – 921L → P.1 Publication
    Corresponds to variant rs2013335 [ dbSNP | Ensembl ].
    VAR_038110
    Natural varianti224 – 2241G → A.
    Corresponds to variant rs2682343 [ dbSNP | Ensembl ].
    VAR_038111
    Natural varianti238 – 2381A → T.
    Corresponds to variant rs10876360 [ dbSNP | Ensembl ].
    VAR_038112

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 110110Missing in isoform 2. 1 PublicationVSP_030419Add
    BLAST
    Alternative sequencei111 – 12717ETQEI…ASFID → MEGHEASPAQVGQGDRG in isoform 2. 1 PublicationVSP_030420Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK096419 mRNA. Translation: BAC04782.1.
    AK290901 mRNA. Translation: BAF83590.1.
    BX647095 mRNA. Translation: CAI46001.1.
    AC107016 Genomic DNA. No translation available.
    BK000646 Genomic DNA. Translation: DAA00377.1. Sequence problems.
    CH471054 Genomic DNA. Translation: EAW96650.1.
    CCDSiCCDS8840.1. [Q8N1N4-1]
    RefSeqiNP_775487.2. NM_173352.2. [Q8N1N4-1]
    XP_005268752.1. XM_005268695.1. [Q8N1N4-2]
    UniGeneiHs.665267.

    Genome annotation databases

    EnsembliENST00000304620; ENSP00000306261; ENSG00000170423. [Q8N1N4-1]
    ENST00000359499; ENSP00000352479; ENSG00000170423. [Q8N1N4-2]
    GeneIDi196374.
    KEGGihsa:196374.
    UCSCiuc001sbc.1. human. [Q8N1N4-1]

    Polymorphism databases

    DMDMi166218809.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK096419 mRNA. Translation: BAC04782.1 .
    AK290901 mRNA. Translation: BAF83590.1 .
    BX647095 mRNA. Translation: CAI46001.1 .
    AC107016 Genomic DNA. No translation available.
    BK000646 Genomic DNA. Translation: DAA00377.1 . Sequence problems.
    CH471054 Genomic DNA. Translation: EAW96650.1 .
    CCDSi CCDS8840.1. [Q8N1N4-1 ]
    RefSeqi NP_775487.2. NM_173352.2. [Q8N1N4-1 ]
    XP_005268752.1. XM_005268695.1. [Q8N1N4-2 ]
    UniGenei Hs.665267.

    3D structure databases

    ProteinModelPortali Q8N1N4.
    SMRi Q8N1N4. Positions 108-260, 325-419.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128199. 10 interactions.
    IntActi Q8N1N4. 3 interactions.
    STRINGi 9606.ENSP00000306261.

    Polymorphism databases

    DMDMi 166218809.

    Proteomic databases

    MaxQBi Q8N1N4.
    PaxDbi Q8N1N4.
    PRIDEi Q8N1N4.

    Protocols and materials databases

    DNASUi 196374.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000304620 ; ENSP00000306261 ; ENSG00000170423 . [Q8N1N4-1 ]
    ENST00000359499 ; ENSP00000352479 ; ENSG00000170423 . [Q8N1N4-2 ]
    GeneIDi 196374.
    KEGGi hsa:196374.
    UCSCi uc001sbc.1. human. [Q8N1N4-1 ]

    Organism-specific databases

    CTDi 196374.
    GeneCardsi GC12M053232.
    H-InvDB HIX0010660.
    HGNCi HGNC:28926. KRT78.
    HPAi HPA039724.
    MIMi 611159. gene.
    neXtProti NX_Q8N1N4.
    PharmGKBi PA147357807.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG146230.
    HOGENOMi HOG000230976.
    HOVERGENi HBG013015.
    KOi K07605.
    OMAi LNSFGGC.
    OrthoDBi EOG7FV3Q8.
    PhylomeDBi Q8N1N4.
    TreeFami TF317854.

    Miscellaneous databases

    GeneWikii KRT78.
    GenomeRNAii 196374.
    NextBioi 89444.
    PROi Q8N1N4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N1N4.
    Bgeei Q8N1N4.
    CleanExi HS_KRT78.
    Genevestigatori Q8N1N4.

    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. "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 1), VARIANT PRO-92.
      Tissue: Esophagus and Tongue.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Esophageal carcinoma.
    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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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.
    6. "Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13."
      Rogers M.A., Edler L., Winter H., Langbein L., Beckmann I., Schweizer J.
      J. Invest. Dermatol. 124:536-544(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiK2C78_HUMAN
    AccessioniPrimary (citable) accession number: Q8N1N4
    Secondary accession number(s): A8K4D6, Q5HYM7, Q7RTT2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: January 15, 2008
    Last modified: October 1, 2014
    This is version 105 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