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Q14CN4 (K2C72_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 75. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:KRT72
Synonyms:K6IRS2, KB35, KRT6, KRT6IRS2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length511 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 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). Ref.1 Ref.5 Ref.6

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.

Caution

Was initially thought to be the ortholog of mouse KRT71 (Ref.1).

Sequence caution

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

Ontologies

Keywords
   Cellular componentIntermediate filament
Keratin
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentkeratin filament

Inferred from electronic annotation. Source: InterPro

   Molecular_functionstructural molecule activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q14CN4-1)

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.
Isoform 2 (identifier: Q14CN4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     363-363: Missing.
Isoform 3 (identifier: Q14CN4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     322-363: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 511511Keratin, type II cytoskeletal 72
PRO_0000314877

Regions

Region1 – 124124Head
Region125 – 434310Rod
Region125 – 16036Coil 1A
Region161 – 17919Linker 1
Region180 – 27192Coil 1B
Region272 – 29524Linker 12
Region296 – 434139Coil 2
Region435 – 51177Tail
Compositional bias10 – 9687Gly-rich

Sites

Site3761Stutter

Natural variations

Alternative sequence322 – 36342Missing in isoform 3.
VSP_045280
Alternative sequence3631Missing in isoform 2.
VSP_030416
Natural variant1711N → D. Ref.2
Corresponds to variant rs11170187 [ dbSNP | Ensembl ].
VAR_038087
Natural variant2641Y → C. Ref.2
Corresponds to variant rs12833456 [ dbSNP | Ensembl ].
VAR_038088
Natural variant3261Q → E.
Corresponds to variant rs34769047 [ dbSNP | Ensembl ].
VAR_061298
Natural variant3661D → E. Ref.4
Corresponds to variant rs7310138 [ dbSNP | Ensembl ].
VAR_038089
Natural variant4281R → L. Ref.2
Corresponds to variant rs11170183 [ dbSNP | Ensembl ].
VAR_038090

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 15, 2008. Version 2.
Checksum: 61E830C382063731

FASTA51155,877
        10         20         30         40         50         60 
MSRQLTHFPR GERLGFSGCS AVLSGGIGSS SASFRARVKG SASFGSKSLS CLGGSRSLAL 

        70         80         90        100        110        120 
SAAARRGGGR LGGFVGTAFG SAGLGPKCPS VCPPGGIPQV TVNKSLLAPL NVEMDPEIQR 

       130        140        150        160        170        180 
VRAQEREQIK ALNNKFASFI DKVRFLEQQN QVLETKWNLL QQLDLNNCRK NLEPIYEGYI 

       190        200        210        220        230        240 
SNLQKQLEML SGDGVRLDSE LRNMQDLVED YKKRYEVEIN RRTAAENEFV VLKKDVDAAY 

       250        260        270        280        290        300 
MNKVELQAKV DSLTDEIKFF KCLYEGEITQ IQSHISDTSI VLSMDNNRDL DLDSIIAEVR 

       310        320        330        340        350        360 
AQYEEIALKS KAEAETLYQT KIQELQVTAG QHGDDLKLTK AEISELNRLI QRIRSEIGNV 

       370        380        390        400        410        420 
KKQCADLETA IADAEQRGDC ALKDARAKLD ELEGALHQAK EELARMLREY QELVSLKLAL 

       430        440        450        460        470        480 
DMEIATYRKL LESEECRMSG EYPNSVSISV ISSTNAGAGG AGFSMGFGAS SSYSYKTAAA 

       490        500        510 
DVKTKGSCGS ELKDPLAKTS GSSCATKKAS R 

« Hide

Isoform 2 [UniParc].

Checksum: 93AAAF9D75378EE7
Show »

FASTA51055,749
Isoform 3 [UniParc].

Checksum: 297E42CB2BED56C8
Show »

FASTA46951,124

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. 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].
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001139697.1. NM_001146225.1.
NP_001139698.1. NM_001146226.1.
NP_542785.1. NM_080747.2.
UniGeneHs.662013.

3D structure databases

ProteinModelPortalQ14CN4.
SMRQ14CN4. Positions 122-275, 291-432.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126715. 3 interactions.
IntActQ14CN4. 1 interaction.
STRING9606.ENSP00000293745.

PTM databases

PhosphoSiteQ14CN4.

Polymorphism databases

DMDM166218813.

Proteomic databases

PaxDbQ14CN4.
PRIDEQ14CN4.

Protocols and materials databases

DNASU140807.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000293745; ENSP00000293745; ENSG00000170486. [Q14CN4-1]
ENST00000354310; ENSP00000346269; ENSG00000170486. [Q14CN4-3]
ENST00000537672; ENSP00000441160; ENSG00000170486. [Q14CN4-1]
GeneID140807.
KEGGhsa:140807.
UCSCuc001saq.2. human. [Q14CN4-1]

Organism-specific databases

CTD140807.
GeneCardsGC12M052979.
H-InvDBHIX0010656.
HGNCHGNC:28932. KRT72.
MIM608246. gene.
neXtProtNX_Q14CN4.
PharmGKBPA147357719.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG149371.
HOGENOMHOG000230976.
HOVERGENHBG013015.
InParanoidQ14CN4.
KOK07605.
OMAYEVEINK.
OrthoDBEOG7P2XRX.
PhylomeDBQ14CN4.
TreeFamTF317854.

Gene expression databases

ArrayExpressQ14CN4.
BgeeQ14CN4.
CleanExHS_KRT72.
GenevestigatorQ14CN4.

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

GenomeRNAi140807.
NextBio84411.
PROQ14CN4.
SOURCESearch...

Entry information

Entry nameK2C72_HUMAN
AccessionPrimary (citable) accession number: Q14CN4
Secondary accession number(s): B4DEI8 expand/collapse secondary AC list , H9KV51, Q8NA87, Q8WWY9, Q8WWZ0
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: March 19, 2014
This is version 75 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