K1C39_HUMAN
ID K1C39_HUMAN Reviewed; 491 AA.
AC Q6A163; B2RXK6; Q6IFU6;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Keratin, type I cytoskeletal 39;
DE AltName: Full=Cytokeratin-39;
DE Short=CK-39;
DE AltName: Full=Keratin-39;
DE Short=K39;
DE AltName: Full=Type I hair keratin Ka35;
GN Name=KRT39; Synonyms=KA35;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANT GLN-456.
RC TISSUE=Scalp;
RX PubMed=15617563; DOI=10.1111/j.1432-0436.2004.07209006.x;
RA Rogers M.A., Winter H., Langbein L., Bleiler R., Schweizer J.;
RT "The human type I keratin gene family: characterization of new hair
RT follicle specific members and evaluation of the chromosome 17q21.2 gene
RT domain.";
RL Differentiation 72:527-540(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT GLN-456.
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 [4]
RP IDENTIFICATION.
RX PubMed=15085952; DOI=10.1078/0171-9335-00354;
RA Hesse M., Zimek A., Weber K., Magin T.M.;
RT "Comprehensive analysis of keratin gene clusters in humans and rodents.";
RL Eur. J. Cell Biol. 83:19-26(2004).
RN [5]
RP POSSIBLE FUNCTION, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=17301834; DOI=10.1038/sj.jid.5700734;
RA Langbein L., Rogers M.A., Praetzel-Wunder S., Boeckler D., Schirmacher P.,
RA Schweizer J.;
RT "Novel type I hair keratins K39 and K40 are the last to be expressed in
RT differentiation of the hair: completion of the human hair keratin
RT catalog.";
RL J. Invest. Dermatol. 127:1532-1535(2007).
CC -!- FUNCTION: May play a role in late hair differentiation.
CC -!- SUBUNIT: Heterotetramer of two type I and two type II keratins.
CC -!- INTERACTION:
CC Q6A163; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-11958242, EBI-11954519;
CC Q6A163; Q9H6L4: ARMC7; NbExp=3; IntAct=EBI-11958242, EBI-742909;
CC Q6A163; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-11958242, EBI-745073;
CC Q6A163; Q8TAB5: C1orf216; NbExp=3; IntAct=EBI-11958242, EBI-747505;
CC Q6A163; A0A1B0GWI1: CCDC196; NbExp=3; IntAct=EBI-11958242, EBI-10181422;
CC Q6A163; P51800-3: CLCNKA; NbExp=3; IntAct=EBI-11958242, EBI-11980535;
CC Q6A163; Q9BQ89: FAM110A; NbExp=3; IntAct=EBI-11958242, EBI-1752811;
CC Q6A163; P14136: GFAP; NbExp=3; IntAct=EBI-11958242, EBI-744302;
CC Q6A163; O14964: HGS; NbExp=3; IntAct=EBI-11958242, EBI-740220;
CC Q6A163; Q86VF2-5: IGFN1; NbExp=3; IntAct=EBI-11958242, EBI-11955401;
CC Q6A163; O60341: KDM1A; NbExp=3; IntAct=EBI-11958242, EBI-710124;
CC Q6A163; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-11958242, EBI-6426443;
CC Q6A163; P04264: KRT1; NbExp=3; IntAct=EBI-11958242, EBI-298429;
CC Q6A163; P12035: KRT3; NbExp=3; IntAct=EBI-11958242, EBI-2430095;
CC Q6A163; P04259: KRT6B; NbExp=3; IntAct=EBI-11958242, EBI-740907;
CC Q6A163; Q7RTS7: KRT74; NbExp=3; IntAct=EBI-11958242, EBI-968660;
CC Q6A163; Q01546: KRT76; NbExp=3; IntAct=EBI-11958242, EBI-2952745;
CC Q6A163; Q8N1N4: KRT78; NbExp=3; IntAct=EBI-11958242, EBI-1056564;
CC Q6A163; Q14533: KRT81; NbExp=3; IntAct=EBI-11958242, EBI-739648;
CC Q6A163; P78385: KRT83; NbExp=3; IntAct=EBI-11958242, EBI-10221390;
CC Q6A163; P78386: KRT85; NbExp=3; IntAct=EBI-11958242, EBI-1049371;
CC Q6A163; O43790: KRT86; NbExp=5; IntAct=EBI-11958242, EBI-9996498;
CC Q6A163; P61968: LMO4; NbExp=3; IntAct=EBI-11958242, EBI-2798728;
CC Q6A163; O60437: PPL; NbExp=4; IntAct=EBI-11958242, EBI-368321;
CC Q6A163; Q99633: PRPF18; NbExp=3; IntAct=EBI-11958242, EBI-2798416;
CC Q6A163; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-11958242, EBI-748391;
CC Q6A163; Q92529: SHC3; NbExp=3; IntAct=EBI-11958242, EBI-79084;
CC Q6A163; Q969G3: SMARCE1; NbExp=3; IntAct=EBI-11958242, EBI-455078;
CC Q6A163; Q96PF1: TGM7; NbExp=3; IntAct=EBI-11958242, EBI-12029034;
CC Q6A163; Q8N3L3: TXLNB; NbExp=3; IntAct=EBI-11958242, EBI-6116822;
CC Q6A163; P57075-2: UBASH3A; NbExp=5; IntAct=EBI-11958242, EBI-7353612;
CC Q6A163; Q9Y2B5: VPS9D1; NbExp=3; IntAct=EBI-11958242, EBI-9031083;
CC Q6A163; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-11958242, EBI-740727;
CC Q6A163; PRO_0000449633 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-11958242, EBI-25492395;
CC -!- TISSUE SPECIFICITY: Expressed in skin and scalp. In the hair follicle,
CC it is present in the upper hair cuticle and the upper cortex. Also
CC present in the in the upper portion of beard hairs (at protein level).
CC {ECO:0000269|PubMed:15617563, ECO:0000269|PubMed:17301834}.
CC -!- DEVELOPMENTAL STAGE: During differentiation of the hair, it is one of
CC the last keratins expressed. {ECO:0000269|PubMed:17301834}.
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; AJ786657; CAH10352.1; -; mRNA.
DR EMBL; AC004231; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC007455; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC157887; AAI57888.1; -; mRNA.
DR EMBL; BK004054; DAA04487.1; -; mRNA.
DR CCDS; CCDS11382.1; -.
DR RefSeq; NP_998821.3; NM_213656.3.
DR AlphaFoldDB; Q6A163; -.
DR SMR; Q6A163; -.
DR BioGRID; 133686; 58.
DR IntAct; Q6A163; 35.
DR STRING; 9606.ENSP00000347823; -.
DR GlyGen; Q6A163; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q6A163; -.
DR PhosphoSitePlus; Q6A163; -.
DR BioMuta; KRT39; -.
DR DMDM; 166218816; -.
DR jPOST; Q6A163; -.
DR MassIVE; Q6A163; -.
DR PaxDb; Q6A163; -.
DR PeptideAtlas; Q6A163; -.
DR PRIDE; Q6A163; -.
DR ProteomicsDB; 66177; -.
DR Antibodypedia; 55323; 33 antibodies from 10 providers.
DR DNASU; 390792; -.
DR Ensembl; ENST00000355612.7; ENSP00000347823.2; ENSG00000196859.8.
DR Ensembl; ENST00000575391.5; ENSP00000459016.1; ENSG00000262164.6.
DR GeneID; 390792; -.
DR KEGG; hsa:390792; -.
DR MANE-Select; ENST00000355612.7; ENSP00000347823.2; NM_213656.4; NP_998821.3.
DR UCSC; uc002hvo.1; human.
DR CTD; 390792; -.
DR GeneCards; KRT39; -.
DR HGNC; HGNC:32971; KRT39.
DR HPA; ENSG00000196859; Tissue enhanced (skin).
DR MIM; 616678; gene.
DR neXtProt; NX_Q6A163; -.
DR OpenTargets; ENSG00000196859; -.
DR PharmGKB; PA147357633; -.
DR VEuPathDB; HostDB:ENSG00000196859; -.
DR eggNOG; ENOG502SH7Y; Eukaryota.
DR GeneTree; ENSGT00940000162203; -.
DR HOGENOM; CLU_012560_8_0_1; -.
DR InParanoid; Q6A163; -.
DR OMA; KEHCSAC; -.
DR OrthoDB; 798081at2759; -.
DR PhylomeDB; Q6A163; -.
DR TreeFam; TF332742; -.
DR PathwayCommons; Q6A163; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; Q6A163; -.
DR BioGRID-ORCS; 390792; 5 hits in 1067 CRISPR screens.
DR GenomeRNAi; 390792; -.
DR Pharos; Q6A163; Tdark.
DR PRO; PR:Q6A163; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q6A163; protein.
DR Bgee; ENSG00000196859; Expressed in skin of abdomen and 34 other tissues.
DR ExpressionAtlas; Q6A163; baseline and differential.
DR GO; GO:0005856; C:cytoskeleton; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
DR GO; GO:0005198; F:structural molecule activity; IEA:InterPro.
DR GO; GO:0030855; P:epithelial cell differentiation; IBA:GO_Central.
DR GO; GO:0045109; P:intermediate filament organization; IBA:GO_Central.
DR InterPro; IPR018039; IF_conserved.
DR InterPro; IPR039008; IF_rod_dom.
DR InterPro; IPR002957; Keratin_I.
DR PANTHER; PTHR23239; PTHR23239; 1.
DR Pfam; PF00038; Filament; 1.
DR PRINTS; PR01248; TYPE1KERATIN.
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; Intermediate filament; Keratin; Reference proteome.
FT CHAIN 1..491
FT /note="Keratin, type I cytoskeletal 39"
FT /id="PRO_0000314853"
FT DOMAIN 96..407
FT /note="IF rod"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT REGION 1..96
FT /note="Head"
FT REGION 97..131
FT /note="Coil 1A"
FT REGION 132..142
FT /note="Linker 1"
FT REGION 143..243
FT /note="Coil 1B"
FT REGION 244..259
FT /note="Linker 12"
FT REGION 260..403
FT /note="Coil 2"
FT REGION 404..491
FT /note="Tail"
FT SITE 345
FT /note="Stutter"
FT VARIANT 341
FT /note="T -> M (in dbSNP:rs17843021)"
FT /id="VAR_038075"
FT VARIANT 383
FT /note="L -> M (in dbSNP:rs17843023)"
FT /id="VAR_038076"
FT VARIANT 456
FT /note="R -> Q (in dbSNP:rs7213256)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:15617563"
FT /id="VAR_038077"
SQ SEQUENCE 491 AA; 55651 MW; 4299E51361B30BAC CRC64;
MDTKGCTTTN SPSTPCQNCS RITNVSTISS NNGCHPGGLT VNNCQPAGHV LRIPWDQGCQ
PTPRFCRKPI YLMNNFNARF SLDDCSWYGE GINSNEKETM QILNERLANY LQKVRMLERE
NAELESKIQE ESNKELPVLC PDYLSYYTTI EELQQKILCT KAENSRLVSQ IDNTKLTADD
LRAKYEAEVS LRQLVESDAN GLKQILNVLT LGKADLEAQV QSLKEELLCL KNNHKEEINS
LQCQLGERLD IEVTAAPSAD LNQVLQEMRC QYEPIMETNR KDVEQWFNTQ IEELNQQVVT
SSQQQQCCQK EIIELRRSVN TLEVELQAQH RMRDSQECIL TETEARYTAL LTQIQSLIDN
LEAQLAEIRC ALERQNQEYE ILLDVKSRLE CEITTYRSLL ESSDGKRPCY PRATKCEPSP
WTSCKSGAIE STAPACTSSS PCSLKEHCSA CGPLSRILVK ICTITKEIKD GKVISSYEHV
QPCFIIRPAK V
