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Keratin, type II cytoskeletal 72 (Cytokeratin-72) (CK-72) (Keratin-72) (K72) (Type II inner root sheath-specific keratin-K6irs2) (Type-II keratin Kb35)

 K2C72_HUMAN             Reviewed;         511 AA.
Q14CN4; B4DEI8; H9KV51; Q8NA87; Q8WWY9; Q8WWZ0;
15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
15-JAN-2008, sequence version 2.
25-OCT-2017, entry version 106.
RecName: Full=Keratin, type II cytoskeletal 72;
AltName: Full=Cytokeratin-72;
Short=CK-72;
AltName: Full=Keratin-72;
Short=K72;
AltName: Full=Type II inner root sheath-specific keratin-K6irs2;
AltName: Full=Type-II keratin Kb35;
Name=KRT72; Synonyms=K6IRS2, KB35, KRT6, KRT6IRS2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), AND
TISSUE SPECIFICITY.
PubMed=11703281; DOI=10.1046/j.1365-2133.2001.04463.x;
Porter R.M., Corden L.D., Lunny D.P., Smith F.J.D., Lane E.B.,
McLean W.H.I.;
"Keratin K6irs is specific to the inner root sheath of hair follicles
in mice and humans.";
Br. J. Dermatol. 145:558-568(2001).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE
SEQUENCE [LARGE SCALE MRNA] OF 5-511, AND VARIANTS ASP-171; CYS-264
AND LEU-428.
TISSUE=Cerebellum, and Testis;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16541075; DOI=10.1038/nature04569;
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.;
"The finished DNA sequence of human chromosome 12.";
Nature 440:346-351(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
GLU-366.
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
TISSUE SPECIFICITY.
PubMed=12648212; DOI=10.1046/j.1523-1747.2003.12087.x;
Langbein L., Rogers M.A., Praetzel S., Winter H., Schweizer J.;
"K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-
specific type II epithelial keratins of the human hair follicle.";
J. Invest. Dermatol. 120:512-522(2003).
[6]
TISSUE SPECIFICITY.
PubMed=16874310; DOI=10.1038/sj.jid.5700494;
Langbein L., Rogers M.A., Praetzel-Wunder S., Helmke B.,
Schirmacher P., Schweizer J.;
"K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4)
represent the type I inner root sheath keratins of the human hair
follicle.";
J. Invest. Dermatol. 126:2377-2386(2006).
-!- FUNCTION: Has a role in hair formation. Specific component of
keratin intermediate filaments in the inner root sheath (IRS) of
the hair follicle (Probable). {ECO:0000305}.
-!- SUBUNIT: Heterotetramer of two type I and two type II keratins.
-!- INTERACTION:
Q6A162:KRT40; NbExp=3; IntAct=EBI-1221280, EBI-10171697;
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=Q14CN4-1; Sequence=Displayed;
Name=2;
IsoId=Q14CN4-2; Sequence=VSP_030416;
Name=3;
IsoId=Q14CN4-3; Sequence=VSP_045280;
Note=No experimental confirmation available.;
-!- 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).
{ECO:0000269|PubMed:11703281, ECO:0000269|PubMed:12648212,
ECO:0000269|PubMed:16874310}.
-!- MISCELLANEOUS: There are two types of cytoskeletal and
microfibrillar keratin, I (acidic) and II (neutral to basic) (40-
55 and 56-70 kDa, respectively).
-!- SIMILARITY: Belongs to the intermediate filament family.
{ECO:0000255|PROSITE-ProRule:PRU01188}.
-!- CAUTION: Was initially thought to be the ortholog of mouse KRT71.
{ECO:0000305|PubMed:11703281}.
-!- SEQUENCE CAUTION:
Sequence=BAC04039.1; Type=Erroneous initiation; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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EMBL; AY033496; AAK55109.1; -; Genomic_DNA.
EMBL; AY033495; AAK55108.1; -; mRNA.
EMBL; AK093060; BAC04039.1; ALT_INIT; mRNA.
EMBL; AK293645; BAG57099.1; -; mRNA.
EMBL; AC055715; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC113686; AAI13687.1; -; mRNA.
CCDS; CCDS53795.1; -. [Q14CN4-3]
CCDS; CCDS8833.1; -. [Q14CN4-1]
RefSeq; NP_001139697.1; NM_001146225.1. [Q14CN4-1]
RefSeq; NP_001139698.1; NM_001146226.1. [Q14CN4-3]
RefSeq; NP_542785.1; NM_080747.2. [Q14CN4-1]
UniGene; Hs.662013; -.
ProteinModelPortal; Q14CN4; -.
SMR; Q14CN4; -.
BioGrid; 126715; 6.
IntAct; Q14CN4; 19.
STRING; 9606.ENSP00000293745; -.
iPTMnet; Q14CN4; -.
PhosphoSitePlus; Q14CN4; -.
SwissPalm; Q14CN4; -.
BioMuta; KRT72; -.
DMDM; 166218813; -.
PaxDb; Q14CN4; -.
PeptideAtlas; Q14CN4; -.
PRIDE; Q14CN4; -.
DNASU; 140807; -.
Ensembl; ENST00000293745; ENSP00000293745; ENSG00000170486. [Q14CN4-1]
Ensembl; ENST00000354310; ENSP00000346269; ENSG00000170486. [Q14CN4-3]
Ensembl; ENST00000537672; ENSP00000441160; ENSG00000170486. [Q14CN4-1]
GeneID; 140807; -.
KEGG; hsa:140807; -.
UCSC; uc001saq.2; human. [Q14CN4-1]
CTD; 140807; -.
DisGeNET; 140807; -.
EuPathDB; HostDB:ENSG00000170486.10; -.
GeneCards; KRT72; -.
H-InvDB; HIX0010656; -.
HGNC; HGNC:28932; KRT72.
HPA; HPA065523; -.
MIM; 608246; gene.
neXtProt; NX_Q14CN4; -.
OpenTargets; ENSG00000170486; -.
PharmGKB; PA147357719; -.
eggNOG; ENOG410IQKP; Eukaryota.
eggNOG; ENOG4111AD7; LUCA.
GeneTree; ENSGT00760000118796; -.
HOGENOM; HOG000230976; -.
HOVERGEN; HBG013015; -.
InParanoid; Q14CN4; -.
KO; K07605; -.
OMA; SYSYKTA; -.
OrthoDB; EOG091G09KR; -.
PhylomeDB; Q14CN4; -.
TreeFam; TF317854; -.
Reactome; R-HSA-6805567; Keratinization.
Reactome; R-HSA-6809371; Formation of the cornified envelope.
GenomeRNAi; 140807; -.
PRO; PR:Q14CN4; -.
Proteomes; UP000005640; Chromosome 12.
Bgee; ENSG00000170486; -.
CleanEx; HS_KRT72; -.
ExpressionAtlas; Q14CN4; baseline and differential.
Genevisible; Q14CN4; HS.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
GO; GO:0045095; C:keratin filament; IEA:InterPro.
GO; GO:0005198; F:structural molecule activity; IEA:InterPro.
GO; GO:0070268; P:cornification; TAS:Reactome.
GO; GO:0031424; P:keratinization; TAS:Reactome.
InterPro; IPR001664; IF.
InterPro; IPR018039; Intermediate_filament_CS.
InterPro; IPR032444; Keratin_2_head.
InterPro; IPR003054; Keratin_II.
PANTHER; PTHR23239; PTHR23239; 1.
Pfam; PF00038; Filament; 1.
Pfam; PF16208; Keratin_2_head; 1.
PRINTS; PR01276; TYPE2KERATIN.
SMART; SM01391; Filament; 1.
PROSITE; PS00226; IF_ROD_1; 1.
PROSITE; PS51842; IF_ROD_2; 1.
1: Evidence at protein level;
Alternative splicing; Coiled coil; Complete proteome;
Intermediate filament; Keratin; Polymorphism; Reference proteome.
CHAIN 1 511 Keratin, type II cytoskeletal 72.
/FTId=PRO_0000314877.
DOMAIN 125 438 IF rod. {ECO:0000255|PROSITE-
ProRule:PRU01188}.
REGION 1 124 Head.
REGION 125 160 Coil 1A.
REGION 161 179 Linker 1.
REGION 180 271 Coil 1B.
REGION 272 295 Linker 12.
REGION 296 434 Coil 2.
REGION 435 511 Tail.
COMPBIAS 10 96 Gly-rich.
SITE 376 376 Stutter.
VAR_SEQ 322 363 Missing (in isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_045280.
VAR_SEQ 363 363 Missing (in isoform 2).
{ECO:0000303|PubMed:11703281}.
/FTId=VSP_030416.
VARIANT 171 171 N -> D (in dbSNP:rs11170187).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_038087.
VARIANT 264 264 Y -> C (in dbSNP:rs12833456).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_038088.
VARIANT 326 326 Q -> E (in dbSNP:rs34769047).
/FTId=VAR_061298.
VARIANT 366 366 D -> E (in dbSNP:rs7310138).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_038089.
VARIANT 428 428 R -> L (in dbSNP:rs11170183).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_038090.
SEQUENCE 511 AA; 55877 MW; 61E830C382063731 CRC64;
MSRQLTHFPR GERLGFSGCS AVLSGGIGSS SASFRARVKG SASFGSKSLS CLGGSRSLAL
SAAARRGGGR LGGFVGTAFG SAGLGPKCPS VCPPGGIPQV TVNKSLLAPL NVEMDPEIQR
VRAQEREQIK ALNNKFASFI DKVRFLEQQN QVLETKWNLL QQLDLNNCRK NLEPIYEGYI
SNLQKQLEML SGDGVRLDSE LRNMQDLVED YKKRYEVEIN RRTAAENEFV VLKKDVDAAY
MNKVELQAKV DSLTDEIKFF KCLYEGEITQ IQSHISDTSI VLSMDNNRDL DLDSIIAEVR
AQYEEIALKS KAEAETLYQT KIQELQVTAG QHGDDLKLTK AEISELNRLI QRIRSEIGNV
KKQCADLETA IADAEQRGDC ALKDARAKLD ELEGALHQAK EELARMLREY QELVSLKLAL
DMEIATYRKL LESEECRMSG EYPNSVSISV ISSTNAGAGG AGFSMGFGAS SSYSYKTAAA
DVKTKGSCGS ELKDPLAKTS GSSCATKKAS R


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