K2C71_MOUSE
ID K2C71_MOUSE Reviewed; 524 AA.
AC Q9R0H5; A0JLW9; Q7TPF3; Q9D0X6;
DT 01-MAR-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Keratin, type II cytoskeletal 71;
DE AltName: Full=Cytokeratin-6G;
DE Short=CK-6G;
DE AltName: Full=Cytokeratin-71;
DE Short=CK-71;
DE AltName: Full=Keratin-6G;
DE Short=K6G;
DE AltName: Full=Keratin-71;
DE Short=K71;
DE AltName: Full=Type II inner root sheath-specific keratin-K6irs1;
DE Short=mK6irs;
DE Short=mK6irs1/Krt2-6g;
DE AltName: Full=Type-II keratin Kb34;
GN Name=Krt71;
GN Synonyms=K6irs1 {ECO:0000303|PubMed:14573483}, Kb34, Krt2-6g, Krt6g;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1] {ECO:0000305, ECO:0000312|EMBL:AAK55110.1}
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC STRAIN=C57BL/6J {ECO:0000312|EMBL:AAK55110.1};
RC TISSUE=Skin {ECO:0000269|PubMed:11703281};
RX PubMed=11703281; DOI=10.1046/j.1365-2133.2001.04463.x;
RA Porter R.M., Corden L.D., Lunny D.P., Smith F.J.D., Lane E.B.,
RA McLean W.H.I.;
RT "Keratin K6irs is specific to the inner root sheath of hair follicles in
RT mice and humans.";
RL Br. J. Dermatol. 145:558-568(2001).
RN [2] {ECO:0000305, ECO:0000312|EMBL:BAA85657.1}
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RC STRAIN=C57BL/6NCrj {ECO:0000269|PubMed:11231308};
RC TISSUE=Skin {ECO:0000269|PubMed:11231308};
RX PubMed=11231308; DOI=10.1046/j.1523-1747.2001.01226.x;
RA Aoki N., Sawada S., Rogers M.A., Schweizer J., Shimomura Y., Tsujimoto T.,
RA Ito K., Ito M.;
RT "A novel type II cytokeratin, mK6irs, is expressed in the Huxley and Henle
RT layers of the mouse inner root sheath.";
RL J. Invest. Dermatol. 116:359-365(2001).
RN [3] {ECO:0000305, ECO:0000312|EMBL:BAC79434.1}
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], FUNCTION, TISSUE SPECIFICITY, AND
RP MUTAGENESIS OF ASN-140 AND ALA-431.
RC STRAIN=BALB/cByJ {ECO:0000312|EMBL:BAC79438.1},
RC C3H/HeJ {ECO:0000312|EMBL:BAC79437.1}, C57BL/6 X C3H,
RC C57BL/6J {ECO:0000312|EMBL:BAC79434.1}, and
RC DBA/2J {ECO:0000312|EMBL:BAC79436.1};
RC TISSUE=Skin {ECO:0000269|PubMed:14573483};
RX PubMed=14573483; DOI=10.1093/genetics/165.2.721;
RA Kikkawa Y., Oyama A.H., Ishii R., Miura I., Amano T., Ishii Y.,
RA Yoshikawa Y., Masuya H., Wakana S., Shiroishi T., Taya C., Yonekawa H.;
RT "A small deletion hotspot in the type II keratin gene mK6irs1/Krt2-6g on
RT mouse chromosome 15, a candidate for causing the wavy hair of the caracul
RT (Ca) mutation.";
RL Genetics 165:721-733(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 381-524.
RC STRAIN=C57BL/6J; TISSUE=Embryo;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP DISRUPTION PHENOTYPE.
RX PubMed=14632181; DOI=10.1046/j.1523-1747.2003.12491.x;
RA Peters T., Sedlmeier R., Buessow H., Runkel F., Lueers G.H., Korthaus D.,
RA Fuchs H., Hrabe de Angelis M., Stumm G., Russ A.P., Porter R.M.,
RA Augustin M., Franz T.;
RT "Alopecia in a novel mouse model RCO3 is caused by mK6irs1 deficiency.";
RL J. Invest. Dermatol. 121:674-680(2003).
RN [7]
RP MUTAGENESIS OF ALA-143 AND ILE-146.
RX PubMed=17143583; DOI=10.1007/s00335-006-0084-9;
RA Runkel F., Klaften M., Koch K., Boehnert V., Buessow H., Fuchs H.,
RA Franz T., Hrabe de Angelis M.;
RT "Morphologic and molecular characterization of two novel Krt71 (Krt2-6g)
RT mutations: Krt71rco12 and Krt71rco13.";
RL Mamm. Genome 17:1172-1182(2006).
CC -!- FUNCTION: Plays a central role in hair formation. Essential component
CC of keratin intermediate filaments in the inner root sheath (IRS) of the
CC hair follicle. {ECO:0000269|PubMed:14573483}.
CC -!- SUBUNIT: Heterodimer of a type I and a type II keratin. Associates with
CC KRT16 and/or KRT17.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton
CC {ECO:0000250|UniProtKB:Q3SY84}.
CC -!- TISSUE SPECIFICITY: Specifically expressed in the inner root sheath
CC (IRS) of the hair follicle. Present in Henle and the Huxley layers of
CC the IRS, while expression in the cuticle is unsure (at protein level).
CC {ECO:0000269|PubMed:11231308, ECO:0000269|PubMed:11703281,
CC ECO:0000269|PubMed:14573483}.
CC -!- DEVELOPMENTAL STAGE: Expressed exclusively in the inner root sheath
CC (IRS) of anagen hair follicles, where expression is predominantly in
CC the hair cone during anagen III and in the Huxley and Henle layers of
CC the inner root sheath during anagen VI. {ECO:0000269|PubMed:11231308}.
CC -!- DISRUPTION PHENOTYPE: Mice exhibit defects in hair structure and
CC progressive alopecia. Missense mutations cause milder phenotypes such
CC as caracul, characterized by rough and greasy fur, and wavy hair that
CC is pointed in different directions. {ECO:0000269|PubMed:14632181}.
CC -!- MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar
CC keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa,
CC respectively).
CC -!- SIMILARITY: Belongs to the intermediate filament family.
CC {ECO:0000255|PROSITE-ProRule:PRU01188}.
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DR EMBL; AY033497; AAK55110.1; -; mRNA.
DR EMBL; AB033744; BAA85657.1; -; mRNA.
DR EMBL; AB100413; BAC79434.1; -; mRNA.
DR EMBL; AB100414; BAC79435.1; -; Genomic_DNA.
DR EMBL; AB100415; BAC79436.1; -; Genomic_DNA.
DR EMBL; AB100416; BAC79437.1; -; Genomic_DNA.
DR EMBL; AB100417; BAC79438.1; -; Genomic_DNA.
DR EMBL; AB100418; BAC79439.1; -; Genomic_DNA.
DR EMBL; AK004268; BAB23243.2; -; mRNA.
DR EMBL; BC125346; AAI25347.1; -; mRNA.
DR EMBL; BC125348; AAI25349.1; -; mRNA.
DR CCDS; CCDS27862.1; -.
DR RefSeq; NP_064340.1; NM_019956.1.
DR AlphaFoldDB; Q9R0H5; -.
DR SMR; Q9R0H5; -.
DR BioGRID; 208149; 4.
DR ComplexPortal; CPX-5869; Keratin-25 - Keratin-71 dimer complex.
DR STRING; 10090.ENSMUSP00000023710; -.
DR iPTMnet; Q9R0H5; -.
DR PhosphoSitePlus; Q9R0H5; -.
DR jPOST; Q9R0H5; -.
DR PaxDb; Q9R0H5; -.
DR PeptideAtlas; Q9R0H5; -.
DR PRIDE; Q9R0H5; -.
DR ProteomicsDB; 269169; -.
DR Antibodypedia; 26633; 99 antibodies from 18 providers.
DR DNASU; 56735; -.
DR Ensembl; ENSMUST00000023710; ENSMUSP00000023710; ENSMUSG00000051879.
DR GeneID; 56735; -.
DR KEGG; mmu:56735; -.
DR UCSC; uc007xtx.1; mouse.
DR CTD; 112802; -.
DR MGI; MGI:1861586; Krt71.
DR VEuPathDB; HostDB:ENSMUSG00000051879; -.
DR eggNOG; ENOG502SK67; Eukaryota.
DR GeneTree; ENSGT00940000162089; -.
DR HOGENOM; CLU_012560_6_1_1; -.
DR InParanoid; Q9R0H5; -.
DR OMA; GPVCSTV; -.
DR OrthoDB; 671547at2759; -.
DR PhylomeDB; Q9R0H5; -.
DR TreeFam; TF317854; -.
DR Reactome; R-MMU-6805567; Keratinization.
DR Reactome; R-MMU-6809371; Formation of the cornified envelope.
DR BioGRID-ORCS; 56735; 2 hits in 73 CRISPR screens.
DR ChiTaRS; Krt71; mouse.
DR PRO; PR:Q9R0H5; -.
DR Proteomes; UP000000589; Chromosome 15.
DR RNAct; Q9R0H5; protein.
DR Bgee; ENSMUSG00000051879; Expressed in lip and 20 other tissues.
DR Genevisible; Q9R0H5; MM.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0045095; C:keratin filament; IDA:MGI.
DR GO; GO:0030280; F:structural constituent of skin epidermis; IBA:GO_Central.
DR GO; GO:0031069; P:hair follicle morphogenesis; IMP:UniProtKB.
DR GO; GO:0045109; P:intermediate filament organization; ISS:UniProtKB.
DR GO; GO:0031424; P:keratinization; IBA:GO_Central.
DR InterPro; IPR018039; IF_conserved.
DR InterPro; IPR039008; IF_rod_dom.
DR InterPro; IPR032444; Keratin_2_head.
DR InterPro; IPR003054; Keratin_II.
DR Pfam; PF00038; Filament; 1.
DR Pfam; PF16208; Keratin_2_head; 1.
DR PRINTS; PR01276; TYPE2KERATIN.
DR SMART; SM01391; Filament; 1.
DR PROSITE; PS00226; IF_ROD_1; 1.
DR PROSITE; PS51842; IF_ROD_2; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Cytoplasm; Cytoskeleton; Intermediate filament; Keratin;
KW Reference proteome.
FT CHAIN 1..524
FT /note="Keratin, type II cytoskeletal 71"
FT /id="PRO_0000063738"
FT DOMAIN 131..444
FT /note="IF rod"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT REGION 1..130
FT /note="Head"
FT REGION 131..166
FT /note="Coil 1A"
FT REGION 167..185
FT /note="Linker 1"
FT REGION 186..277
FT /note="Coil 1B"
FT REGION 278..301
FT /note="Linker 12"
FT REGION 302..440
FT /note="Coil 2"
FT REGION 441..524
FT /note="Tail"
FT REGION 493..524
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 505..524
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 382
FT /note="Stutter"
FT /evidence="ECO:0000255"
FT MUTAGEN 140
FT /note="Missing: In caracul Rinshoken; causes a wavy hair
FT phenotype."
FT /evidence="ECO:0000269|PubMed:14573483"
FT MUTAGEN 143
FT /note="A->G: In Rco12; causes a wavy pelage and curly
FT vibrissae."
FT /evidence="ECO:0000269|PubMed:17143583"
FT MUTAGEN 146
FT /note="I->F: In Rco13; causes a wavy pelage and curly
FT vibrissae."
FT /evidence="ECO:0000269|PubMed:17143583"
FT MUTAGEN 431
FT /note="A->D: In caracul; causes a wavy hair phenotype."
FT /evidence="ECO:0000269|PubMed:14573483"
SQ SEQUENCE 524 AA; 57383 MW; 45FF0C44B440A72A CRC64;
MSRQFTCKSG ASNRGFSGCS AVLSGGSSSS YRAGGKGLSG GFGSRSLYSL GGGRSITLNM
ASGSGKNGGF GFGRNRASGF AGSIFGSVAL GPVCPAVCPP GGIHQVTVNE SLLAPLNVEL
DPEIQKVRAQ EREQIKALNN KFASFIDKVR FLEQQNQVLQ TKWELLQQLD LNNCKNNLEP
ILEGHISNMR KQLETLSGDR VRLDSELRNV RDVVEDYKKK YEEEINRRTA AENEFVLLKK
DVDAAYANKV ELQAKVDTMD QDIKFFKCLF EAEMAQIQSH ISDMSVILSM DNNRNLDLDS
IIDEVRAQYE EIALKSKAEA EALYQTKFQE LQLAAGRHGD DLKNTKNEIT ELTRFIQRLR
SEIENAKKQA SNLETAIADA EQRGDSALKD ARAKLDELEG ALHQAKEELA RMLREYQELM
SLKLALDMEI ATYRKLLESE ECRMSGEYSS PVSISIISST SGSGGYGFRP STVSGGYVAN
STSCISGVCS VRGGENRSRG SASDYKDTLT KGSSLSTPSK KGGR
