Q14CN4 (K2C72_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	KRT72
Synonyms:	K6IRS2, KB35, KRT6, KRT6IRS2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	511 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Intermediate filament Keratin
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	keratin filament Inferred from electronic annotation. Source: InterPro
Molecular_function	structural 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 511	511	Keratin, type II cytoskeletal 72		PRO_0000314877
Regions
	Region	1 – 124	124	Head
	Region	125 – 434	310	Rod
	Region	125 – 160	36	Coil 1A
	Region	161 – 179	19	Linker 1
	Region	180 – 271	92	Coil 1B
	Region	272 – 295	24	Linker 12
	Region	296 – 434	139	Coil 2
	Region	435 – 511	77	Tail
	Compositional bias	10 – 96	87	Gly-rich
Sites
	Site	376	1	Stutter
Natural variations
	Alternative sequence	322 – 363	42	Missing in isoform 3.		VSP_045280
	Alternative sequence	363	1	Missing in isoform 2.		VSP_030416
	Natural variant	171	1	N → D. Ref.2 Corresponds to variant rs11170187 [ dbSNP | Ensembl ].		VAR_038087
	Natural variant	264	1	Y → C. Ref.2 Corresponds to variant rs12833456 [ dbSNP | Ensembl ].		VAR_038088
	Natural variant	326	1	Q → E. Corresponds to variant rs34769047 [ dbSNP | Ensembl ].		VAR_061298
	Natural variant	366	1	D → E. Ref.4 Corresponds to variant rs7310138 [ dbSNP | Ensembl ].		VAR_038089
	Natural variant	428	1	R → L. Ref.2 Corresponds to variant rs11170183 [ dbSNP | Ensembl ].		VAR_038090

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 15, 2008. Version 2. Checksum: 61E830C382063731	FASTA	511	55,877
	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
	Isoform 2 [UniParc]. Checksum: 93AAAF9D75378EE7	FASTA	510	55,749
	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 KKCADLETAI ADAEQRGDCA LKDARAKLDE LEGALHQAKE ELARMLREYQ ELVSLKLALD 430 440 450 460 470 480 MEIATYRKLL ESEECRMSGE YPNSVSISVI SSTNAGAGGA GFSMGFGASS SYSYKTAAAD 490 500 510 VKTKGSCGSE LKDPLAKTSG SSCATKKASR
	Isoform 3 [UniParc]. Checksum: 297E42CB2BED56C8	FASTA	469	51,124
	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 KCADLETAIA DAEQRGDCAL KDARAKLDEL EGALHQAKEE 370 380 390 400 410 420 LARMLREYQE LVSLKLALDM EIATYRKLLE SEECRMSGEY PNSVSISVIS STNAGAGGAG 430 440 450 460 FSMGFGASSS YSYKTAAADV KTKGSCGSEL KDPLAKTSGS SCATKKASR

References

	« Hide 'large scale' referencesShow '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. , 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.
+	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.
IPI	IPI00103481. IPI00794272. IPI00910219.
RefSeq	NP_001139697.1. NM_001146225.1. NP_001139698.1. NM_001146226.1. NP_542785.1. NM_080747.2.
UniGene	Hs.662013.
3D structure databases
ProteinModelPortal	Q14CN4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q14CN4. 1 interaction.
STRING	9606.ENSP00000293745.
PTM databases
PhosphoSite	Q14CN4.
Polymorphism databases
DMDM	166218813.
Proteomic databases
PaxDb	Q14CN4.
PRIDE	Q14CN4.
Protocols and materials databases
DNASU	140807.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000293745; ENSP00000293745; ENSG00000170486. ENST00000354310; ENSP00000346269; ENSG00000170486. ENST00000537672; ENSP00000441160; ENSG00000170486.
GeneID	140807.
KEGG	hsa:140807.
UCSC	uc001saq.2. human.
Organism-specific databases
CTD	140807.
GeneCards	GC12M052979.
H-InvDB	HIX0010656.
HGNC	HGNC:28932. KRT72.
MIM	608246. gene.
neXtProt	NX_Q14CN4.
PharmGKB	PA147357719.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG149371.
HOGENOM	HOG000230976.
HOVERGEN	HBG013015.
InParanoid	Q14CN4.
KO	K07605.
OMA	TDDIKFF.
PhylomeDB	Q14CN4.
Gene expression databases
ArrayExpress	Q14CN4.
Bgee	Q14CN4.
CleanEx	HS_KRT72.
Genevestigator	Q14CN4.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR003054. Keratin_II. [Graphical view]
PANTHER	PTHR23239. PTHR23239. 1 hit. PTHR23239:SF18. PTHR23239:SF18. 1 hit.
Pfam	PF00038. Filament. 1 hit. [Graphical view]
PRINTS	PR01276. TYPE2KERATIN.
PROSITE	PS00226. IF. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	140807.
NextBio	84411.
SOURCE	Search...

Entry information

Entry name

K2C72_HUMAN

Accession

Primary (citable) accession number: Q14CN4
Secondary accession number(s): B4DEI8 , H9KV51, Q8NA87, Q8WWY9, Q8WWZ0

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	January 15, 2008
Last modified:	May 1, 2013
This is version 68 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.