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Keratin, type I cytoskeletal 25 (Cytokeratin-25) (CK-25) (Keratin-25) (K25) (Keratin-25A) (K25A) (Type I inner root sheath-specific keratin-K25irs1)

 K1C25_HUMAN             Reviewed;         450 AA.
Q7Z3Z0;
04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
01-OCT-2003, sequence version 1.
17-JUN-2020, entry version 134.
RecName: Full=Keratin, type I cytoskeletal 25;
AltName: Full=Cytokeratin-25;
Short=CK-25;
AltName: Full=Keratin-25;
Short=K25;
AltName: Full=Keratin-25A;
Short=K25A;
AltName: Full=Type I inner root sheath-specific keratin-K25irs1;
Name=KRT25 {ECO:0000312|HGNC:HGNC:30839};
Synonyms=KRT25A {ECO:0000312|EMBL:CAD91904.1};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
Homo.
NCBI_TaxID=9606;
[1] {ECO:0000305, ECO:0000312|EMBL:CAD91904.1}
NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
TISSUE=Scalp {ECO:0000312|EMBL:CAD91904.1};
PubMed=15617563; DOI=10.1111/j.1432-0436.2004.07209006.x;
Rogers M.A., Winter H., Langbein L., Bleiler R., Schweizer J.;
"The human type I keratin gene family: characterization of new hair
follicle specific members and evaluation of the chromosome 17q21.2 gene
domain.";
Differentiation 72:527-540(2004).
[2] {ECO:0000312|EMBL:EAW60676.1}
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
Hunkapiller M.W., Myers E.W., Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[3] {ECO:0000305}
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).
[4]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-442, AND IDENTIFICATION BY
MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[5]
VARIANT ARWH3 PRO-317.
PubMed=26160856; DOI=10.1136/jmedgenet-2015-103255;
Ansar M., Raza S.I., Lee K., Irfanullah X., Shahi S., Acharya A., Dai H.,
Smith J.D., Shendure J., Bamshad M.J., Nickerson D.A., Santos-Cortez R.L.,
Ahmad W., Leal S.M.;
"A homozygous missense variant in type I keratin KRT25 causes autosomal
recessive woolly hair.";
J. Med. Genet. 52:676-680(2015).
[6]
VARIANT ARWH3 LEU-238, CHARACTERIZATION OF VARIANT ARWH3 LEU-238, FUNCTION,
AND SUBUNIT.
PubMed=26902920; DOI=10.1016/j.jid.2016.01.037;
Zernov N.V., Skoblov M.Y., Marakhonov A.V., Shimomura Y., Vasilyeva T.A.,
Konovalov F.A., Abrukova A.V., Zinchenko R.A.;
"Autosomal recessive hypotrichosis with woolly hair caused by a mutation in
the keratin 25 gene expressed in hair follicles.";
J. Invest. Dermatol. 136:1097-1105(2016).
[7]
VARIANT ARWH3 ARG-376, CHARACTERIZATION OF VARIANT ARWH3 ARG-376, AND
SUBUNIT.
PubMed=28899683; DOI=10.1016/j.jid.2017.08.035;
Yu X., Chen F., Ni C., Zhang G., Zheng L., Zhang J., Li C., Sandilands A.,
Yao Z., Li M.;
"A missense mutation within the helix termination motif of KRT25 causes
autosomal dominant woolly hair/hypotrichosis.";
J. Invest. Dermatol. 138:230-233(2018).
-!- FUNCTION: Essential for the proper assembly of type I and type II
keratin protein complexes and formation of keratin intermediate
filaments in the inner root sheath (irs) (By similarity). Plays a role
in the cytoskeleton organization (PubMed:26902920).
{ECO:0000250|UniProtKB:Q8VCW2, ECO:0000269|PubMed:26902920}.
-!- SUBUNIT: Heterodimer of a type I and a type II keratin
(PubMed:26902920). Heterodimer with type II keratin KRT5 leading to the
formation of keratin intermediate filament (KIF) network
(PubMed:28899683). Interacts with KRT6A to form filaments (By
similarity). {ECO:0000250|UniProtKB:Q8VCW2,
ECO:0000269|PubMed:26902920, ECO:0000269|PubMed:28899683, ECO:0000305}.
-!- INTERACTION:
Q7Z3Z0; O14964: HGS; NbExp=3; IntAct=EBI-11980019, EBI-740220;
Q7Z3Z0; P04264: KRT1; NbExp=3; IntAct=EBI-11980019, EBI-298429;
Q7Z3Z0; P35908: KRT2; NbExp=5; IntAct=EBI-11980019, EBI-1247312;
Q7Z3Z0; P12035: KRT3; NbExp=3; IntAct=EBI-11980019, EBI-2430095;
Q7Z3Z0; P19013: KRT4; NbExp=3; IntAct=EBI-11980019, EBI-2371606;
Q7Z3Z0; P13647: KRT5; NbExp=3; IntAct=EBI-11980019, EBI-702187;
Q7Z3Z0; P02538: KRT6A; NbExp=3; IntAct=EBI-11980019, EBI-702198;
Q7Z3Z0; P04259: KRT6B; NbExp=3; IntAct=EBI-11980019, EBI-740907;
Q7Z3Z0; P48668: KRT6C; NbExp=3; IntAct=EBI-11980019, EBI-2564105;
Q7Z3Z0; Q3SY84: KRT71; NbExp=5; IntAct=EBI-11980019, EBI-2952676;
Q7Z3Z0; Q14CN4: KRT72; NbExp=3; IntAct=EBI-11980019, EBI-1221280;
Q7Z3Z0; Q7RTS7: KRT74; NbExp=5; IntAct=EBI-11980019, EBI-968660;
Q7Z3Z0; O95678: KRT75; NbExp=3; IntAct=EBI-11980019, EBI-2949715;
Q7Z3Z0; Q01546: KRT76; NbExp=3; IntAct=EBI-11980019, EBI-2952745;
Q7Z3Z0; Q8N1N4: KRT78; NbExp=3; IntAct=EBI-11980019, EBI-1056564;
Q7Z3Z0; Q5XKE5: KRT79; NbExp=3; IntAct=EBI-11980019, EBI-2514135;
Q7Z3Z0; P05787: KRT8; NbExp=3; IntAct=EBI-11980019, EBI-297852;
Q7Z3Z0; P78385: KRT83; NbExp=3; IntAct=EBI-11980019, EBI-10221390;
Q7Z3Z0; P78386: KRT85; NbExp=5; IntAct=EBI-11980019, EBI-1049371;
Q7Z3Z0; O43790: KRT86; NbExp=3; IntAct=EBI-11980019, EBI-9996498;
Q7Z3Z0; Q8NDC4: MORN4; NbExp=3; IntAct=EBI-11980019, EBI-10269566;
Q7Z3Z0; O60437: PPL; NbExp=3; IntAct=EBI-11980019, EBI-368321;
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8VCW2}.
-!- TISSUE SPECIFICITY: Strongly expressed in skin and scalp, and weak
expression observed in thymus and tongue. In the hair follicle,
expressed in Henle layer, Huxley layer and in the inner root sheath
cuticle of the hair follicle. Expression extends from the bulb region
up to the point of differentiation into the three layers. Also present
in the medulla of beard hair (at protein level).
{ECO:0000269|PubMed:15617563, ECO:0000269|PubMed:16874310}.
-!- DISEASE: Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760]: A hair
shaft disorder characterized by fine and tightly curled hair. Compared
to normal curly hair that is observed in some populations, woolly hair
grows slowly and stops growing after a few inches. Under light
microscopy, woolly hair shows some structural anomalies, including
trichorrhexis nodosa and tapered ends. Some individuals may present
with hypotrichosis. {ECO:0000269|PubMed:26160856,
ECO:0000269|PubMed:26902920, ECO:0000269|PubMed:28899683}. Note=The
disease is caused by mutations affecting the gene represented in this
entry.
-!- MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar
keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
{ECO:0000305}.
-!- SIMILARITY: Belongs to the intermediate filament family.
{ECO:0000255|PROSITE-ProRule:PRU01188}.
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EMBL; AJ564204; CAD91904.1; -; mRNA.
EMBL; CH471152; EAW60676.1; -; Genomic_DNA.
CCDS; CCDS11373.1; -.
RefSeq; NP_853512.1; NM_181534.3.
SMR; Q7Z3Z0; -.
BioGRID; 127044; 4.
IntAct; Q7Z3Z0; 22.
STRING; 9606.ENSP00000310573; -.
iPTMnet; Q7Z3Z0; -.
PhosphoSitePlus; Q7Z3Z0; -.
SwissPalm; Q7Z3Z0; -.
BioMuta; KRT25; -.
DMDM; 74723316; -.
jPOST; Q7Z3Z0; -.
MassIVE; Q7Z3Z0; -.
PaxDb; Q7Z3Z0; -.
PeptideAtlas; Q7Z3Z0; -.
PRIDE; Q7Z3Z0; -.
ProteomicsDB; 69098; -.
Antibodypedia; 57604; 102 antibodies.
DNASU; 147183; -.
Ensembl; ENST00000312150; ENSP00000310573; ENSG00000204897.
GeneID; 147183; -.
KEGG; hsa:147183; -.
UCSC; uc002hve.3; human.
CTD; 147183; -.
DisGeNET; 147183; -.
EuPathDB; HostDB:ENSG00000204897.6; -.
GeneCards; KRT25; -.
HGNC; HGNC:30839; KRT25.
HPA; ENSG00000204897; Tissue enriched (skin).
MalaCards; KRT25; -.
MIM; 616646; gene.
MIM; 616760; phenotype.
neXtProt; NX_Q7Z3Z0; -.
OpenTargets; ENSG00000204897; -.
Orphanet; 170; Woolly hair.
PharmGKB; PA134977088; -.
eggNOG; ENOG410IFTF; Eukaryota.
eggNOG; ENOG410Y9IV; LUCA.
GeneTree; ENSGT00940000161994; -.
HOGENOM; CLU_012560_8_3_1; -.
InParanoid; Q7Z3Z0; -.
KO; K07604; -.
OMA; KGWYEQF; -.
OrthoDB; 805081at2759; -.
PhylomeDB; Q7Z3Z0; -.
TreeFam; TF332742; -.
Reactome; R-HSA-6805567; Keratinization.
Reactome; R-HSA-6809371; Formation of the cornified envelope.
BioGRID-ORCS; 147183; 2 hits in 780 CRISPR screens.
GenomeRNAi; 147183; -.
Pharos; Q7Z3Z0; Tbio.
PRO; PR:Q7Z3Z0; -.
Proteomes; UP000005640; Chromosome 17.
RNAct; Q7Z3Z0; protein.
Bgee; ENSG00000204897; Expressed in upper arm skin and 50 other tissues.
Genevisible; Q7Z3Z0; HS.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
GO; GO:0046982; F:protein heterodimerization activity; IDA:UniProtKB.
GO; GO:0005198; F:structural molecule activity; IEA:InterPro.
GO; GO:0007568; P:aging; IDA:UniProtKB.
GO; GO:0070268; P:cornification; TAS:Reactome.
GO; GO:0007010; P:cytoskeleton organization; IDA:UniProtKB.
GO; GO:0042633; P:hair cycle; IDA:UniProtKB.
GO; GO:0031069; P:hair follicle morphogenesis; IEA:Ensembl.
GO; GO:0045109; P:intermediate filament organization; IEA:Ensembl.
GO; GO:0031424; P:keratinization; TAS:Reactome.
Gene3D; 1.20.5.1160; -; 1.
InterPro; IPR039008; IF_rod_dom.
InterPro; IPR042180; IF_rod_dom_coil1B.
InterPro; IPR002957; Keratin_I.
PANTHER; PTHR23239; PTHR23239; 1.
Pfam; PF00038; Filament; 1.
PRINTS; PR01248; TYPE1KERATIN.
SMART; SM01391; Filament; 1.
PROSITE; PS51842; IF_ROD_2; 1.
1: Evidence at protein level;
Coiled coil; Cytoplasm; Disease mutation; Hypotrichosis;
Intermediate filament; Keratin; Phosphoprotein; Polymorphism;
Reference proteome.
CHAIN 1..450
/note="Keratin, type I cytoskeletal 25"
/id="PRO_0000312691"
DOMAIN 79..394
/note="IF rod"
/evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
REGION 1..78
/note="Head"
/evidence="ECO:0000255"
REGION 79..114
/note="Coil 1A"
/evidence="ECO:0000255"
REGION 115..136
/note="Linker 1"
/evidence="ECO:0000255"
REGION 137..228
/note="Coil 1B"
/evidence="ECO:0000255"
REGION 229..251
/note="Linker 12"
/evidence="ECO:0000255"
REGION 252..390
/note="Coil 2"
/evidence="ECO:0000255"
REGION 391..450
/note="Tail"
/evidence="ECO:0000255"
COMPBIAS 25..77
/note="Gly-rich"
/evidence="ECO:0000255"
MOD_RES 442
/note="Phosphoserine"
/evidence="ECO:0000244|PubMed:18669648"
VARIANT 54
/note="S -> L (in dbSNP:rs12951399)"
/id="VAR_049786"
VARIANT 238
/note="V -> L (in ARWH3; reduces keratin intermediate
filamen formation; impairs cytoskeleton assembly;
dbSNP:rs879253749)"
/evidence="ECO:0000269|PubMed:26902920"
/id="VAR_076303"
VARIANT 317
/note="L -> P (in ARWH3; dbSNP:rs766783183)"
/evidence="ECO:0000269|PubMed:26160856"
/id="VAR_076304"
VARIANT 376
/note="L -> R (in ARWH3; disruption of keratin intermediate
filament formation formed via heterodimerization with
KRT5)"
/evidence="ECO:0000269|PubMed:28899683"
/id="VAR_079711"
SEQUENCE 450 AA; 49318 MW; 12AB5BF74BA426FF CRC64;
MSLRLSSASR RSCPRPTTGS LRLYGGGTSF GTGNSCGISG IGSGFSSAFG GSSSGGNTGG
GNPCAGFTVN ERGLLSGNEK VTMQNLNDRL ASYLDSVHAL EEANADLEQK IKGWYEKFGP
GSCRGLDHDY SRYFPIIDDL KNQIIASTTS NANAVLQIDN ARLTADDFRL KYENELALHQ
SVEADVNGLR RVLDEITLCR TDLEIQYETL SEEMTYLKKN HKEEMQVLQC AAGGNVNVEM
NAAPGVDLTV LLNNMRAEYE ALAEQNRRDA EAWFNEKSAS LQQQISEDVG ATTSARNELT
EMKRTLQTLE IELQSLLATK HSLECSLTET ESNYCAQLAQ IQAQIGALEE QLHQVRTETE
GQKLEYEQLL DIKLHLEKEI ETYCLLIGGD DGACKSGGYK SKDYGSGNVG SQVKDPAKAI
VVKKVLEEVD QRSKILTTRL HSLEEKSQSN


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Related Genes :
[KRT71 K6IRS1 KB34 KRT6IRS1] Keratin, type II cytoskeletal 71 (Cytokeratin-71) (CK-71) (Keratin-71) (K71) (Type II inner root sheath-specific keratin-K6irs1) (Keratin 6 irs) (hK6irs) (hK6irs1) (Type-II keratin Kb34)
[KRT74 K6IRS4 KB37 KRT5C KRT6IRS4] Keratin, type II cytoskeletal 74 (Cytokeratin-74) (CK-74) (Keratin-5c) (K5C) (Keratin-74) (K74) (Type II inner root sheath-specific keratin-K6irs4) (Type-II keratin Kb37)
[KRT72 K6IRS2 KB35 KRT6 KRT6IRS2] Keratin, type II cytoskeletal 72 (Cytokeratin-72) (CK-72) (Keratin-72) (K72) (Type II inner root sheath-specific keratin-K6irs2) (Type-II keratin Kb35)
[KRT73 K6IRS3 KB36 KRT6IRS3] Keratin, type II cytoskeletal 73 (Cytokeratin-73) (CK-73) (Keratin-73) (K73) (Type II inner root sheath-specific keratin-K6irs3) (Type-II keratin Kb36)
[Krt71 K6irs1 Kb34 Krt2-6g Krt6g] Keratin, type II cytoskeletal 71 (Cytokeratin-6G) (CK-6G) (Cytokeratin-71) (CK-71) (Keratin-6G) (K6G) (Keratin-71) (K71) (Type II inner root sheath-specific keratin-K6irs1) (mK6irs) (mK6irs1/Krt2-6g) (Type-II keratin Kb34)
[KRT14] Keratin, type I cytoskeletal 14 (Cytokeratin-14) (CK-14) (Keratin-14) (K14)
[KRT17] Keratin, type I cytoskeletal 17 (39.1) (Cytokeratin-17) (CK-17) (Keratin-17) (K17)
[KRT19] Keratin, type I cytoskeletal 19 (Cytokeratin-19) (CK-19) (Keratin-19) (K19)
[KRT1 KRTA] Keratin, type II cytoskeletal 1 (67 kDa cytokeratin) (Cytokeratin-1) (CK-1) (Hair alpha protein) (Keratin-1) (K1) (Type-II keratin Kb1)
[KRT6C KRT6E] Keratin, type II cytoskeletal 6C (Cytokeratin-6C) (CK-6C) (Cytokeratin-6E) (CK-6E) (Keratin K6h) (Keratin-6C) (K6C) (Type-II keratin Kb12)
[KRT6B K6B KRTL1] Keratin, type II cytoskeletal 6B (Cytokeratin-6B) (CK-6B) (Keratin-6B) (K6B) (Type-II keratin Kb10)
[Krt18 Kerd Krt1-18] Keratin, type I cytoskeletal 18 (Cytokeratin endo B) (Keratin D) (Cytokeratin-18) (CK-18) (Keratin-18) (K18)
[Krt16 Krt1-16] Keratin, type I cytoskeletal 16 (Cytokeratin-16) (CK-16) (Keratin-16) (K16)
[KRT9] Keratin, type I cytoskeletal 9 (Cytokeratin-9) (CK-9) (Keratin-9) (K9)
[Krt17 Krt1-17] Keratin, type I cytoskeletal 17 (Cytokeratin-17) (CK-17) (Keratin-17) (K17)
[KRT6A K6A KRT6D] Keratin, type II cytoskeletal 6A (Cytokeratin-6A) (CK-6A) (Cytokeratin-6D) (CK-6D) (Keratin-6A) (K6A) (Type-II keratin Kb6) (allergen Hom s 5)
[KRT5] Keratin, type II cytoskeletal 5 (58 kDa cytokeratin) (Cytokeratin-5) (CK-5) (Keratin-5) (K5) (Type-II keratin Kb5)
[KRT18 CYK18 PIG46] Keratin, type I cytoskeletal 18 (Cell proliferation-inducing gene 46 protein) (Cytokeratin-18) (CK-18) (Keratin-18) (K18)
[KRT10 KPP] Keratin, type I cytoskeletal 10 (Cytokeratin-10) (CK-10) (Keratin-10) (K10)
[KRT3] Keratin, type II cytoskeletal 3 (65 kDa cytokeratin) (Cytokeratin-3) (CK-3) (Keratin-3) (K3) (Type-II keratin Kb3)
[Krt6a Ker2 Krt2-6 Krt2-6a Krt6] Keratin, type II cytoskeletal 6A (Cytokeratin-6A) (CK-6A) (Keratin-6-alpha) (mK6-alpha) (Keratin-6A) (K6A)
[Krt18 Krt1-18] Keratin, type I cytoskeletal 18 (Cytokeratin-18) (CK-18) (Keratin-18) (K18)
[KRT12] Keratin, type I cytoskeletal 12 (Cytokeratin-12) (CK-12) (Keratin-12) (K12)
[KRT16 KRT16A] Keratin, type I cytoskeletal 16 (Cytokeratin-16) (CK-16) (Keratin-16) (K16)
[KRT79 K6L KB38 KRT6L] Keratin, type II cytoskeletal 79 (Cytokeratin-79) (CK-79) (Keratin-6-like) (Keratin-6L) (Keratin-79) (K79) (Type-II keratin Kb38)
[Krt12 Krt1-12 Krt1.12] Keratin, type I cytoskeletal 12 (Cytokeratin-12) (CK-12) (Keratin-12) (K12)
[KRT80 KB20] Keratin, type II cytoskeletal 80 (Cytokeratin-80) (CK-80) (Keratin-80) (K80) (Type-II keratin Kb20)
[Krt17 Ka17] Keratin, type I cytoskeletal 17 (Cytokeratin-17) (CK-17) (Keratin-17) (K17) (Type I keratin Ka17)
[KRT85 KRTHB5] Keratin, type II cuticular Hb5 (Hair keratin K2.12) (Keratin-85) (K85) (Type II hair keratin Hb5) (Type-II keratin Kb25)
[KRT34 HHA4 HKA4 KRTHA4] Keratin, type I cuticular Ha4 (Hair keratin, type I Ha4) (Keratin-34) (K34)

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