KRT38_HUMAN
ID KRT38_HUMAN Reviewed; 456 AA.
AC O76015; A2RRM5; Q6A164;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 3.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Keratin, type I cuticular Ha8;
DE AltName: Full=Hair keratin, type I Ha8;
DE AltName: Full=Keratin-38;
DE Short=K38;
GN Name=KRT38; Synonyms=HHA8, HKA8, KRTHA8;
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 [GENOMIC DNA], AND VARIANT PRO-423.
RX PubMed=9756910; DOI=10.1074/jbc.273.41.26683;
RA Rogers M.A., Winter H., Wolf C., Heck M., Schweizer J.;
RT "Characterization of a 190-kilobase pair domain of human type I hair
RT keratin genes.";
RL J. Biol. Chem. 273:26683-26691(1998).
RN [2]
RP SEQUENCE REVISION.
RA Schweizer J.;
RL Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT PRO-423.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT PRO-423.
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 NUCLEOTIDE SEQUENCE [MRNA] OF 18-456, AND VARIANT PRO-423.
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).
CC -!- INTERACTION:
CC O76015; Q9P2A4: ABI3; NbExp=3; IntAct=EBI-1047263, EBI-742038;
CC O76015; Q9Y2J4-4: AMOTL2; NbExp=3; IntAct=EBI-1047263, EBI-10187270;
CC O76015; Q96IX9: ANKRD36BP1; NbExp=3; IntAct=EBI-1047263, EBI-744859;
CC O76015; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-1047263, EBI-745073;
CC O76015; Q0VDD7: BRME1; NbExp=3; IntAct=EBI-1047263, EBI-741210;
CC O76015; Q8TAB5: C1orf216; NbExp=6; IntAct=EBI-1047263, EBI-747505;
CC O76015; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-1047263, EBI-744556;
CC O76015; Q8IYE0: CCDC146; NbExp=5; IntAct=EBI-1047263, EBI-10749669;
CC O76015; Q8IYE0-2: CCDC146; NbExp=4; IntAct=EBI-1047263, EBI-10247802;
CC O76015; Q9UGN4: CD300A; NbExp=3; IntAct=EBI-1047263, EBI-10320732;
CC O76015; Q8IYX8-2: CEP57L1; NbExp=3; IntAct=EBI-1047263, EBI-10181988;
CC O76015; Q9NQL9: DMRT3; NbExp=3; IntAct=EBI-1047263, EBI-9679045;
CC O76015; O60941-5: DTNB; NbExp=3; IntAct=EBI-1047263, EBI-11984733;
CC O76015; Q9BQ89: FAM110A; NbExp=3; IntAct=EBI-1047263, EBI-1752811;
CC O76015; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-1047263, EBI-6658203;
CC O76015; O76003: GLRX3; NbExp=3; IntAct=EBI-1047263, EBI-374781;
CC O76015; P50151: GNG10; NbExp=6; IntAct=EBI-1047263, EBI-10211741;
CC O76015; Q9P2W3: GNG13; NbExp=3; IntAct=EBI-1047263, EBI-11427343;
CC O76015; Q96CS2: HAUS1; NbExp=5; IntAct=EBI-1047263, EBI-2514791;
CC O76015; P56524: HDAC4; NbExp=3; IntAct=EBI-1047263, EBI-308629;
CC O76015; A0A0S2Z4Q4: HGS; NbExp=3; IntAct=EBI-1047263, EBI-16429135;
CC O76015; O14964: HGS; NbExp=6; IntAct=EBI-1047263, EBI-740220;
CC O76015; Q9P0W2: HMG20B; NbExp=6; IntAct=EBI-1047263, EBI-713401;
CC O76015; P49639: HOXA1; NbExp=6; IntAct=EBI-1047263, EBI-740785;
CC O76015; Q9ULV5-2: HSF4; NbExp=3; IntAct=EBI-1047263, EBI-12056251;
CC O76015; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-1047263, EBI-14069005;
CC O76015; Q2WGJ6: KLHL38; NbExp=6; IntAct=EBI-1047263, EBI-6426443;
CC O76015; P04264: KRT1; NbExp=3; IntAct=EBI-1047263, EBI-298429;
CC O76015; P35908: KRT2; NbExp=11; IntAct=EBI-1047263, EBI-1247312;
CC O76015; P12035: KRT3; NbExp=3; IntAct=EBI-1047263, EBI-2430095;
CC O76015; P19013: KRT4; NbExp=9; IntAct=EBI-1047263, EBI-2371606;
CC O76015; P13647: KRT5; NbExp=6; IntAct=EBI-1047263, EBI-702187;
CC O76015; P02538: KRT6A; NbExp=14; IntAct=EBI-1047263, EBI-702198;
CC O76015; P04259: KRT6B; NbExp=8; IntAct=EBI-1047263, EBI-740907;
CC O76015; P48668: KRT6C; NbExp=6; IntAct=EBI-1047263, EBI-2564105;
CC O76015; Q3SY84: KRT71; NbExp=6; IntAct=EBI-1047263, EBI-2952676;
CC O76015; Q14CN4: KRT72; NbExp=3; IntAct=EBI-1047263, EBI-1221280;
CC O76015; Q7RTS7: KRT74; NbExp=3; IntAct=EBI-1047263, EBI-968660;
CC O76015; O95678: KRT75; NbExp=3; IntAct=EBI-1047263, EBI-2949715;
CC O76015; Q01546: KRT76; NbExp=3; IntAct=EBI-1047263, EBI-2952745;
CC O76015; Q5XKE5: KRT79; NbExp=6; IntAct=EBI-1047263, EBI-2514135;
CC O76015; P05787: KRT8; NbExp=7; IntAct=EBI-1047263, EBI-297852;
CC O76015; Q6KB66-2: KRT80; NbExp=5; IntAct=EBI-1047263, EBI-11999246;
CC O76015; Q14533: KRT81; NbExp=10; IntAct=EBI-1047263, EBI-739648;
CC O76015; P78385: KRT83; NbExp=8; IntAct=EBI-1047263, EBI-10221390;
CC O76015; P78386: KRT85; NbExp=3; IntAct=EBI-1047263, EBI-1049371;
CC O76015; O43790: KRT86; NbExp=3; IntAct=EBI-1047263, EBI-9996498;
CC O76015; A0A0S2Z5S9: LHX4; NbExp=3; IntAct=EBI-1047263, EBI-16429099;
CC O76015; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-1047263, EBI-11742507;
CC O76015; P61968: LMO4; NbExp=3; IntAct=EBI-1047263, EBI-2798728;
CC O76015; O15481: MAGEB4; NbExp=5; IntAct=EBI-1047263, EBI-751857;
CC O76015; O60336: MAPKBP1; NbExp=3; IntAct=EBI-1047263, EBI-947402;
CC O76015; O00459: PIK3R2; NbExp=5; IntAct=EBI-1047263, EBI-346930;
CC O76015; Q13526: PIN1; NbExp=6; IntAct=EBI-1047263, EBI-714158;
CC O76015; Q12837: POU4F2; NbExp=3; IntAct=EBI-1047263, EBI-17236143;
CC O76015; P25786: PSMA1; NbExp=6; IntAct=EBI-1047263, EBI-359352;
CC O76015; P62195: PSMC5; NbExp=6; IntAct=EBI-1047263, EBI-357745;
CC O76015; P43115-12: PTGER3; NbExp=3; IntAct=EBI-1047263, EBI-10234038;
CC O76015; Q9BWJ2: RHPN1-AS1; NbExp=3; IntAct=EBI-1047263, EBI-10300934;
CC O76015; Q9BWG6: SCNM1; NbExp=9; IntAct=EBI-1047263, EBI-748391;
CC O76015; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-1047263, EBI-358489;
CC O76015; Q8IYX1: TBC1D21; NbExp=5; IntAct=EBI-1047263, EBI-12018146;
CC O76015; Q8N7C3: TRIML2; NbExp=3; IntAct=EBI-1047263, EBI-11059915;
CC O76015; P40222: TXLNA; NbExp=6; IntAct=EBI-1047263, EBI-359793;
CC O76015; Q8N3L3: TXLNB; NbExp=9; IntAct=EBI-1047263, EBI-6116822;
CC O76015; Q86UY0: TXNDC5; NbExp=3; IntAct=EBI-1047263, EBI-2825190;
CC O76015; Q8N6Y0: USHBP1; NbExp=6; IntAct=EBI-1047263, EBI-739895;
CC O76015; Q9BRU9: UTP23; NbExp=3; IntAct=EBI-1047263, EBI-5457544;
CC O76015; Q9BQ24: ZFYVE21; NbExp=3; IntAct=EBI-1047263, EBI-2849569;
CC O76015; P17024: ZNF20; NbExp=3; IntAct=EBI-1047263, EBI-717634;
CC O76015; Q8TAU3: ZNF417; NbExp=6; IntAct=EBI-1047263, EBI-740727;
CC O76015; Q96SQ5: ZNF587; NbExp=3; IntAct=EBI-1047263, EBI-6427977;
CC O76015; A8K2R3; NbExp=3; IntAct=EBI-1047263, EBI-9977437;
CC -!- MISCELLANEOUS: There are two types of hair/microfibrillar keratin, I
CC (acidic) and II (neutral to basic).
CC -!- SIMILARITY: Belongs to the intermediate filament family.
CC {ECO:0000255|PROSITE-ProRule:PRU01188}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; Y16794; CAA76390.2; -; Genomic_DNA.
DR EMBL; AC019349; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471152; EAW60734.1; -; Genomic_DNA.
DR EMBL; BC131715; AAI31716.1; -; mRNA.
DR EMBL; AJ786656; CAH10351.1; -; mRNA.
DR CCDS; CCDS11392.1; -.
DR RefSeq; NP_006762.3; NM_006771.3.
DR AlphaFoldDB; O76015; -.
DR SMR; O76015; -.
DR BioGRID; 114234; 174.
DR IntAct; O76015; 74.
DR STRING; 9606.ENSP00000246646; -.
DR GlyGen; O76015; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; O76015; -.
DR PhosphoSitePlus; O76015; -.
DR BioMuta; KRT38; -.
DR jPOST; O76015; -.
DR MassIVE; O76015; -.
DR PaxDb; O76015; -.
DR PeptideAtlas; O76015; -.
DR PRIDE; O76015; -.
DR ProteomicsDB; 50347; -.
DR Antibodypedia; 44473; 64 antibodies from 14 providers.
DR DNASU; 8687; -.
DR Ensembl; ENST00000246646.4; ENSP00000246646.3; ENSG00000171360.4.
DR GeneID; 8687; -.
DR KEGG; hsa:8687; -.
DR MANE-Select; ENST00000246646.4; ENSP00000246646.3; NM_006771.4; NP_006762.3.
DR UCSC; uc002hwq.2; human.
DR CTD; 8687; -.
DR GeneCards; KRT38; -.
DR HGNC; HGNC:6456; KRT38.
DR HPA; ENSG00000171360; Tissue enriched (skin).
DR MIM; 604542; gene.
DR neXtProt; NX_O76015; -.
DR OpenTargets; ENSG00000171360; -.
DR PharmGKB; PA30245; -.
DR VEuPathDB; HostDB:ENSG00000171360; -.
DR eggNOG; ENOG502SIYJ; Eukaryota.
DR GeneTree; ENSGT00940000163444; -.
DR HOGENOM; CLU_012560_8_0_1; -.
DR InParanoid; O76015; -.
DR OMA; GSCGTYG; -.
DR OrthoDB; 657425at2759; -.
DR PhylomeDB; O76015; -.
DR TreeFam; TF332742; -.
DR PathwayCommons; O76015; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR Reactome; R-HSA-6809371; Formation of the cornified envelope.
DR SignaLink; O76015; -.
DR BioGRID-ORCS; 8687; 9 hits in 1057 CRISPR screens.
DR GenomeRNAi; 8687; -.
DR Pharos; O76015; Tdark.
DR PRO; PR:O76015; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; O76015; protein.
DR Bgee; ENSG00000171360; Expressed in hair follicle and 27 other tissues.
DR Genevisible; O76015; HS.
DR GO; GO:0005856; C:cytoskeleton; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
DR GO; GO:0005198; F:structural molecule activity; TAS:ProtInc.
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..456
FT /note="Keratin, type I cuticular Ha8"
FT /id="PRO_0000063695"
FT DOMAIN 104..415
FT /note="IF rod"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01188"
FT REGION 1..104
FT /note="Head"
FT REGION 105..139
FT /note="Coil 1A"
FT REGION 140..150
FT /note="Linker 1"
FT REGION 151..251
FT /note="Coil 1B"
FT REGION 252..267
FT /note="Linker 12"
FT REGION 268..411
FT /note="Coil 2"
FT REGION 412..456
FT /note="Tail"
FT SITE 353
FT /note="Stutter"
FT VARIANT 423
FT /note="S -> P (in dbSNP:rs897416)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:15617563, ECO:0000269|PubMed:9756910,
FT ECO:0000269|Ref.4"
FT /id="VAR_055137"
FT CONFLICT 113
FT /note="D -> G (in Ref. 6; CAH10351)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 456 AA; 50480 MW; 8AE2E9BE95FC8E72 CRC64;
MTSSYSSSSC PLGCTMAPGA RNVSVSPIDI GCQPGAEANI APMCLLANVA HANRVRVGST
PLGRPSLCLP PTCHTACPLP GTCHIPGNIG ICGAYGENTL NGHEKETMQF LNDRLANYLE
KVRQLEQENA ELEATLLERS KCHESTVCPD YQSYFHTIEE LQQKILCSKA ENARLIVQID
NAKLAADDFR IKLESERSLR QLVEADKCGT QKLLDDATLA KADLEAQQES LKEEQLSLKS
NHEQEVKILR SQLGEKLRIE LDIEPTIDLN RVLGEMRAQY EAMLETNRQD VEQWFQAQSE
GISLQDMSCS EELQCCQSEI LELRCTVNAL EVERQAQHTL KDCLQNSLCE AEDRFGTELA
QMQSLISNVE EQLSEIRADL ERQNQEYQVL LDVKTRLENE IATYRNLLES EDCKLPCNPC
STSPSCVTAP CAPRPSCGPC TTCGPTCGAS TTGSRF
