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Q8N1N4

- K2C78_HUMAN

UniProt

Q8N1N4 - K2C78_HUMAN

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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

Functioni

Sites

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

GO - Molecular functioni

  1. structural molecule activity Source: InterPro
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ8N1N4.
CleanExiHS_KRT78.
ExpressionAtlasiQ8N1N4. baseline and differential.
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.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiQ8N1N4.
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

        10         20         30         40         50
MSLSPCRAQR GFSARSACSA RSRGRSRGGF SSRGGFSSRS LNSFGGCLEG
60 70 80 90 100
SRGSTWGSGG RLGVRFGEWS GGPGLSLCPP GGIQEVTINQ NLLTPLKIEI
110 120 130 140 150
DPQFQVVRTQ ETQEIRTLNN QFASFIDKVR FLEQQNKVLE TKWHLLQQQG
160 170 180 190 200
LSGSQQGLEP VFEACLDQLR KQLEQLQGER GALDAELKAC RDQEEEYKSK
210 220 230 240 250
YEEEAHRRAT LENDFVVLKK DVDGVFLSKM ELEGKLEALR EYLYFLKHLN
260 270 280 290 300
EEELGQLQTQ ASDTSVVLSM DNNRYLDFSS IITEVRARYE EIARSSKAEA
310 320 330 340 350
EALYQTKYQE LQVSAQLHGD RMQETKVQIS QLHQEIQRLQ SQTENLKKQN
360 370 380 390 400
ASLQAAITDA EQRGELALKD AQAKVDELEA ALRMAKQNLA RLLCEYQELT
410 420 430 440 450
STKLSLDVEI ATYRRLLEGE ECRMSGECTS QVTISSVGGS AVMSGGVGGG
460 470 480 490 500
LGSTCGLGSG KGSPGSCCTS IVTGGSNIIL GSGKDPVLDS CSVSGSSAGS
510 520
SCHTILKKTV ESSLKTSITY
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.
CCDSiCCDS73473.1. [Q8N1N4-2]
CCDS8840.1. [Q8N1N4-1]
RefSeqiNP_775487.2. NM_173352.3. [Q8N1N4-1]
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 CCDS73473.1. [Q8N1N4-2 ]
CCDS8840.1. [Q8N1N4-1 ]
RefSeqi NP_775487.2. NM_173352.3. [Q8N1N4-1 ]
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.
GeneTreei ENSGT00760000118796.
HOGENOMi HOG000230976.
HOVERGENi HBG013015.
InParanoidi Q8N1N4.
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

Bgeei Q8N1N4.
CleanExi HS_KRT78.
ExpressionAtlasi Q8N1N4. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 106 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