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Q14CN4

- K2C72_HUMAN

UniProt

Q14CN4 - K2C72_HUMAN

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Protein

Keratin, type II cytoskeletal 72

Gene
KRT72, K6IRS2, KB35, KRT6, KRT6IRS2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei376 – 3761Stutter

GO - Molecular functioni

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

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:KRT72
Synonyms:K6IRS2, KB35, KRT6, KRT6IRS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:28932. KRT72.

Subcellular locationi

GO - Cellular componenti

  1. keratin filament Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA147357719.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 511511Keratin, type II cytoskeletal 72PRO_0000314877Add
BLAST

Proteomic databases

MaxQBiQ14CN4.
PaxDbiQ14CN4.
PRIDEiQ14CN4.

PTM databases

PhosphoSiteiQ14CN4.

Expressioni

Tissue specificityi

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).3 Publications

Gene expression databases

ArrayExpressiQ14CN4.
BgeeiQ14CN4.
CleanExiHS_KRT72.
GenevestigatoriQ14CN4.

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

Protein-protein interaction databases

BioGridi126715. 3 interactions.
IntActiQ14CN4. 1 interaction.
STRINGi9606.ENSP00000293745.

Structurei

3D structure databases

ProteinModelPortaliQ14CN4.
SMRiQ14CN4. Positions 122-275, 339-432.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 124124HeadAdd
BLAST
Regioni125 – 434310RodAdd
BLAST
Regioni125 – 16036Coil 1AAdd
BLAST
Regioni161 – 17919Linker 1Add
BLAST
Regioni180 – 27192Coil 1BAdd
BLAST
Regioni272 – 29524Linker 12Add
BLAST
Regioni296 – 434139Coil 2Add
BLAST
Regioni435 – 51177TailAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi10 – 9687Gly-richAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG149371.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiQ14CN4.
KOiK07605.
OMAiYEVEINK.
OrthoDBiEOG7P2XRX.
PhylomeDBiQ14CN4.
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 (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q14CN4-1) [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

MSRQLTHFPR GERLGFSGCS AVLSGGIGSS SASFRARVKG SASFGSKSLS    50
CLGGSRSLAL SAAARRGGGR LGGFVGTAFG SAGLGPKCPS VCPPGGIPQV 100
TVNKSLLAPL NVEMDPEIQR VRAQEREQIK ALNNKFASFI DKVRFLEQQN 150
QVLETKWNLL QQLDLNNCRK NLEPIYEGYI SNLQKQLEML SGDGVRLDSE 200
LRNMQDLVED YKKRYEVEIN RRTAAENEFV VLKKDVDAAY MNKVELQAKV 250
DSLTDEIKFF KCLYEGEITQ IQSHISDTSI VLSMDNNRDL DLDSIIAEVR 300
AQYEEIALKS KAEAETLYQT KIQELQVTAG QHGDDLKLTK AEISELNRLI 350
QRIRSEIGNV KKQCADLETA IADAEQRGDC ALKDARAKLD ELEGALHQAK 400
EELARMLREY QELVSLKLAL DMEIATYRKL LESEECRMSG EYPNSVSISV 450
ISSTNAGAGG AGFSMGFGAS SSYSYKTAAA DVKTKGSCGS ELKDPLAKTS 500
GSSCATKKAS R 511
Length:511
Mass (Da):55,877
Last modified:January 15, 2008 - v2
Checksum:i61E830C382063731
GO
Isoform 2 (identifier: Q14CN4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     363-363: Missing.

Show »
Length:510
Mass (Da):55,749
Checksum:i93AAAF9D75378EE7
GO
Isoform 3 (identifier: Q14CN4-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     322-363: Missing.

Note: No experimental confirmation available.

Show »
Length:469
Mass (Da):51,124
Checksum:i297E42CB2BED56C8
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti171 – 1711N → D.1 Publication
Corresponds to variant rs11170187 [ dbSNP | Ensembl ].
VAR_038087
Natural varianti264 – 2641Y → C.1 Publication
Corresponds to variant rs12833456 [ dbSNP | Ensembl ].
VAR_038088
Natural varianti326 – 3261Q → E.
Corresponds to variant rs34769047 [ dbSNP | Ensembl ].
VAR_061298
Natural varianti366 – 3661D → E.1 Publication
Corresponds to variant rs7310138 [ dbSNP | Ensembl ].
VAR_038089
Natural varianti428 – 4281R → L.1 Publication
Corresponds to variant rs11170183 [ dbSNP | Ensembl ].
VAR_038090

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei322 – 36342Missing in isoform 3. VSP_045280Add
BLAST
Alternative sequencei363 – 3631Missing in isoform 2. VSP_030416

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS53795.1. [Q14CN4-3]
CCDS8833.1. [Q14CN4-1]
RefSeqiNP_001139697.1. NM_001146225.1. [Q14CN4-1]
NP_001139698.1. NM_001146226.1. [Q14CN4-3]
NP_542785.1. NM_080747.2. [Q14CN4-1]
UniGeneiHs.662013.

Genome annotation databases

EnsembliENST00000293745; ENSP00000293745; ENSG00000170486. [Q14CN4-1]
ENST00000354310; ENSP00000346269; ENSG00000170486. [Q14CN4-3]
ENST00000537672; ENSP00000441160; ENSG00000170486. [Q14CN4-1]
GeneIDi140807.
KEGGihsa:140807.
UCSCiuc001saq.2. human. [Q14CN4-1]

Polymorphism databases

DMDMi166218813.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS53795.1. [Q14CN4-3 ]
CCDS8833.1. [Q14CN4-1 ]
RefSeqi NP_001139697.1. NM_001146225.1. [Q14CN4-1 ]
NP_001139698.1. NM_001146226.1. [Q14CN4-3 ]
NP_542785.1. NM_080747.2. [Q14CN4-1 ]
UniGenei Hs.662013.

3D structure databases

ProteinModelPortali Q14CN4.
SMRi Q14CN4. Positions 122-275, 339-432.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126715. 3 interactions.
IntActi Q14CN4. 1 interaction.
STRINGi 9606.ENSP00000293745.

PTM databases

PhosphoSitei Q14CN4.

Polymorphism databases

DMDMi 166218813.

Proteomic databases

MaxQBi Q14CN4.
PaxDbi Q14CN4.
PRIDEi Q14CN4.

Protocols and materials databases

DNASUi 140807.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000293745 ; ENSP00000293745 ; ENSG00000170486 . [Q14CN4-1 ]
ENST00000354310 ; ENSP00000346269 ; ENSG00000170486 . [Q14CN4-3 ]
ENST00000537672 ; ENSP00000441160 ; ENSG00000170486 . [Q14CN4-1 ]
GeneIDi 140807.
KEGGi hsa:140807.
UCSCi uc001saq.2. human. [Q14CN4-1 ]

Organism-specific databases

CTDi 140807.
GeneCardsi GC12M052979.
H-InvDB HIX0010656.
HGNCi HGNC:28932. KRT72.
MIMi 608246. gene.
neXtProti NX_Q14CN4.
PharmGKBi PA147357719.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG149371.
HOGENOMi HOG000230976.
HOVERGENi HBG013015.
InParanoidi Q14CN4.
KOi K07605.
OMAi YEVEINK.
OrthoDBi EOG7P2XRX.
PhylomeDBi Q14CN4.
TreeFami TF317854.

Miscellaneous databases

GenomeRNAii 140807.
NextBioi 84411.
PROi Q14CN4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q14CN4.
Bgeei Q14CN4.
CleanExi HS_KRT72.
Genevestigatori Q14CN4.

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. "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.
    , 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.
    , 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.

Entry informationi

Entry nameiK2C72_HUMAN
AccessioniPrimary (citable) accession number: Q14CN4
Secondary accession number(s): B4DEI8
, H9KV51, Q8NA87, Q8WWY9, Q8WWZ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: July 9, 2014
This is version 78 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

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