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Q7RTS7 (K2C74_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:KRT74
Synonyms:K6IRS4, KB37, KRT5C, KRT6IRS4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length529 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Heterotetramer of two type I and two type II keratins.

Tissue specificity

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). Ref.1 Ref.5

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Miscellaneous

There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

Sequence similarities

Belongs to the intermediate filament family.

Sequence caution

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

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 529529Keratin, type II cytoskeletal 74
PRO_0000314885

Regions

Region1 – 139139Head
Region140 – 449310Rod
Region140 – 17536Coil 1A
Region176 – 19419Linker 1
Region195 – 28692Coil 1B
Region287 – 31024Linker 12
Region311 – 449139Coil 2
Region450 – 52980Tail
Compositional bias10 – 111102Gly-rich

Sites

Site3911Stutter

Amino acid modifications

Modified residue5131Phosphothreonine Ref.6

Natural variations

Natural variant1481N → K in ADWH; results in disruption of keratin intermediate filament formation in cultured cells. Ref.7
VAR_063587
Natural variant1651N → K.
Corresponds to variant rs11170177 [ dbSNP | Ensembl ].
VAR_038096
Natural variant1781L → Q.
Corresponds to variant rs11170176 [ dbSNP | Ensembl ].
VAR_049806
Natural variant2711E → D. Ref.1 Ref.4
Corresponds to variant rs670741 [ dbSNP | Ensembl ].
VAR_038097
Natural variant3921R → Q.
Corresponds to variant rs57387512 [ dbSNP | Ensembl ].
VAR_061299
Natural variant4241E → K.
Corresponds to variant rs57711382 [ dbSNP | Ensembl ].
VAR_061300
Natural variant4821D → N in HYPT3. Ref.8
VAR_065951

Sequences

Sequence LengthMass (Da)Tools
Q7RTS7 [UniParc].

Last modified January 15, 2008. Version 2.
Checksum: CE81527DD4825CBF

FASTA52957,865
        10         20         30         40         50         60 
MSRQLNIKSS GDKGNFSVHS AVVPRKAVGS LASYCAAGRG AGAGFGSRSL YSLGGNRRIS 

        70         80         90        100        110        120 
FNVAGGGVRA GGYGFRPGSG YGGGRASGFA GSMFGSVALG PACLSVCPPG GIHQVTVNKS 

       130        140        150        160        170        180 
LLAPLNVELD PEIQKVRAQE REQIKVLNDK FASFIDKVRF LEQQNQVLET KWELLQQLDL 

       190        200        210        220        230        240 
NNCKKNLEPI LEGYISNLRK QLETLSGDRV RLDSELRSMR DLVEDYKKRY EVEINRRTTA 

       250        260        270        280        290        300 
ENEFVVLKKD ADAAYAVKVE LQAKVDSLDK EIKFLKCLYD AEIAQIQTHA SETSVILSMD 

       310        320        330        340        350        360 
NNRDLDLDSI IAEVRMHYEE IALKSKAEAE ALYQTKIQEL QLAASRHGDD LKHTRSEMVE 

       370        380        390        400        410        420 
LNRLIQRIRC EIGNVKKQRA SLETAIADAE QRGDNALKDA QAKLDELEGA LHQAKEELAR 

       430        440        450        460        470        480 
MLREYQELMS LKLALDMEIA TYRKLLEGEE CRMSGENPSS VSISVISSSS YSYHHPSSAG 

       490        500        510        520 
VDLGASAVAG SSGSTQSGQT KTTEARGGDL KDTQGKSTPA SIPARKATR 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS8832.1.
RefSeqNP_778223.2. NM_175053.3.
UniGeneHs.660125.

3D structure databases

ProteinModelPortalQ7RTS7.
SMRQ7RTS7. Positions 137-287, 306-448.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125727. 3 interactions.
STRING9606.ENSP00000307240.

PTM databases

PhosphoSiteQ7RTS7.

Polymorphism databases

DMDM166218812.

Proteomic databases

MaxQBQ7RTS7.
PaxDbQ7RTS7.
PRIDEQ7RTS7.

Protocols and materials databases

DNASU121391.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000305620; ENSP00000307240; ENSG00000170484.
GeneID121391.
KEGGhsa:121391.
UCSCuc001sap.1. human.

Organism-specific databases

CTD121391.
GeneCardsGC12M052959.
H-InvDBHIX0036697.
HGNCHGNC:28929. KRT74.
HPAHPA048596.
MIM194300. phenotype.
608248. gene.
613981. phenotype.
neXtProtNX_Q7RTS7.
Orphanet90368. Hypotrichosis simplex of the scalp.
170. Woolly hair.
PharmGKBPA147357741.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG266742.
HOGENOMHOG000230976.
HOVERGENHBG013015.
KOK07605.
PhylomeDBQ7RTS7.
TreeFamTF317854.

Gene expression databases

ArrayExpressQ7RTS7.
BgeeQ7RTS7.
CleanExHS_KRT74.
GenevestigatorQ7RTS7.

Family and domain databases

InterProIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PfamPF00038. Filament. 1 hit.
[Graphical view]
PRINTSPR01276. TYPE2KERATIN.
PROSITEPS00226. IF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi121391.
NextBio80732.
PROQ7RTS7.
SOURCESearch...

Entry information

Entry nameK2C74_HUMAN
AccessionPrimary (citable) accession number: Q7RTS7
Secondary accession number(s): B5MD61, Q86Y45
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: July 9, 2014
This is version 88 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM