KR124_HUMAN
ID KR124_HUMAN Reviewed; 112 AA.
AC P60329; Q08AF5;
DT 02-FEB-2004, integrated into UniProtKB/Swiss-Prot.
DT 02-FEB-2004, sequence version 1.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Keratin-associated protein 12-4;
DE AltName: Full=High sulfur keratin-associated protein 12.4;
DE AltName: Full=Keratin-associated protein 12.4;
GN Name=KRTAP12-4; Synonyms=KAP12.4, KRTAP12.4;
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], AND TISSUE SPECIFICITY.
RC TISSUE=Hair root;
RX PubMed=15028290; DOI=10.1016/j.ygeno.2003.09.024;
RA Shibuya K., Obayashi I., Asakawa S., Minoshima S., Kudoh J., Shimizu N.;
RT "A cluster of 21 keratin-associated protein genes within introns of another
RT gene on human chromosome 21q22.3.";
RL Genomics 83:679-693(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 TISSUE SPECIFICITY.
RX PubMed=14962103; DOI=10.1046/j.0022-202x.2003.22128.x;
RA Rogers M.A., Langbein L., Winter H., Beckmann I., Praetzel S.,
RA Schweizer J.;
RT "Hair keratin associated proteins: characterization of a second high sulfur
RT KAP gene domain on human chromosome 21.";
RL J. Invest. Dermatol. 122:147-158(2004).
CC -!- FUNCTION: In the hair cortex, hair keratin intermediate filaments are
CC embedded in an interfilamentous matrix, consisting of hair keratin-
CC associated proteins (KRTAP), which are essential for the formation of a
CC rigid and resistant hair shaft through their extensive disulfide bond
CC cross-linking with abundant cysteine residues of hair keratins. The
CC matrix proteins include the high-sulfur and high-glycine-tyrosine
CC keratins.
CC -!- SUBUNIT: Interacts with hair keratins.
CC -!- INTERACTION:
CC P60329; P29972: AQP1; NbExp=3; IntAct=EBI-10176396, EBI-745213;
CC P60329; P54253: ATXN1; NbExp=3; IntAct=EBI-10176396, EBI-930964;
CC P60329; Q8WWM7-9: ATXN2L; NbExp=3; IntAct=EBI-10176396, EBI-12053753;
CC P60329; O95992: CH25H; NbExp=3; IntAct=EBI-10176396, EBI-12820943;
CC P60329; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-10176396, EBI-3867333;
CC P60329; Q9NWN3: FBXO34; NbExp=4; IntAct=EBI-10176396, EBI-719816;
CC P60329; Q8WW32: HMGB4; NbExp=3; IntAct=EBI-10176396, EBI-10277297;
CC P60329; P49639: HOXA1; NbExp=10; IntAct=EBI-10176396, EBI-740785;
CC P60329; Q8NA54: IQUB; NbExp=6; IntAct=EBI-10176396, EBI-10220600;
CC P60329; Q8IUC1: KRTAP11-1; NbExp=4; IntAct=EBI-10176396, EBI-1052037;
CC P60329; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-10176396, EBI-10176379;
CC P60329; Q3LHN2: KRTAP19-2; NbExp=3; IntAct=EBI-10176396, EBI-12196745;
CC P60329; Q3LI72: KRTAP19-5; NbExp=3; IntAct=EBI-10176396, EBI-1048945;
CC P60329; Q3LI70: KRTAP19-6; NbExp=3; IntAct=EBI-10176396, EBI-12805508;
CC P60329; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-10176396, EBI-10241353;
CC P60329; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-10176396, EBI-14065470;
CC P60329; Q9BYR6: KRTAP3-3; NbExp=3; IntAct=EBI-10176396, EBI-3957694;
CC P60329; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-10176396, EBI-11962084;
CC P60329; Q8IUC2: KRTAP8-1; NbExp=3; IntAct=EBI-10176396, EBI-10261141;
CC P60329; Q14847-2: LASP1; NbExp=3; IntAct=EBI-10176396, EBI-9088686;
CC P60329; Q5T7P2: LCE1A; NbExp=3; IntAct=EBI-10176396, EBI-11962058;
CC P60329; Q5T751: LCE1C; NbExp=3; IntAct=EBI-10176396, EBI-12224199;
CC P60329; Q5T753: LCE1E; NbExp=3; IntAct=EBI-10176396, EBI-11955335;
CC P60329; Q5T754: LCE1F; NbExp=3; IntAct=EBI-10176396, EBI-11958008;
CC P60329; Q5TA79: LCE2A; NbExp=3; IntAct=EBI-10176396, EBI-10246607;
CC P60329; Q5TA81: LCE2C; NbExp=3; IntAct=EBI-10176396, EBI-11973993;
CC P60329; Q5TA76: LCE3A; NbExp=3; IntAct=EBI-10176396, EBI-9394625;
CC P60329; Q5TA78: LCE4A; NbExp=3; IntAct=EBI-10176396, EBI-10246358;
CC P60329; Q5TCM9: LCE5A; NbExp=3; IntAct=EBI-10176396, EBI-11955689;
CC P60329; P50222: MEOX2; NbExp=3; IntAct=EBI-10176396, EBI-748397;
CC P60329; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-10176396, EBI-16439278;
CC P60329; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-10176396, EBI-945833;
CC P60329; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-10176396, EBI-22310682;
CC P60329; Q92570: NR4A3; NbExp=3; IntAct=EBI-10176396, EBI-13644623;
CC P60329; Q13516: OLIG2; NbExp=3; IntAct=EBI-10176396, EBI-3914525;
CC P60329; P32242: OTX1; NbExp=6; IntAct=EBI-10176396, EBI-740446;
CC P60329; Q8WWB5: PIH1D2; NbExp=6; IntAct=EBI-10176396, EBI-10232538;
CC P60329; Q12837: POU4F2; NbExp=3; IntAct=EBI-10176396, EBI-17236143;
CC P60329; Q93062-3: RBPMS; NbExp=3; IntAct=EBI-10176396, EBI-740343;
CC P60329; Q9P2R6: RERE; NbExp=3; IntAct=EBI-10176396, EBI-948076;
CC P60329; P49901: SMCP; NbExp=3; IntAct=EBI-10176396, EBI-750494;
CC P60329; Q96M29: TEKT5; NbExp=3; IntAct=EBI-10176396, EBI-10239812;
CC P60329; Q96LM6: TEX37; NbExp=3; IntAct=EBI-10176396, EBI-743976;
CC P60329; Q15645: TRIP13; NbExp=3; IntAct=EBI-10176396, EBI-358993;
CC P60329; O95231: VENTX; NbExp=4; IntAct=EBI-10176396, EBI-10191303;
CC -!- TISSUE SPECIFICITY: Restricted to a narrow region of the hair fiber
CC cuticle, lying approximately 20 cell layers above the apex of the
CC dermal papilla of the hair root; not detected in any other tissues.
CC {ECO:0000269|PubMed:14962103, ECO:0000269|PubMed:15028290}.
CC -!- SIMILARITY: Belongs to the KRTAP type 12 family. {ECO:0000305}.
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DR EMBL; AB076360; BAD01547.1; -; mRNA.
DR EMBL; AL773602; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC125198; AAI25199.1; -; mRNA.
DR CCDS; CCDS42963.1; -.
DR RefSeq; NP_941971.1; NM_198698.1.
DR AlphaFoldDB; P60329; -.
DR BioGRID; 132135; 49.
DR IntAct; P60329; 46.
DR STRING; 9606.ENSP00000375476; -.
DR BioMuta; KRTAP12-4; -.
DR DMDM; 41688566; -.
DR PaxDb; P60329; -.
DR PRIDE; P60329; -.
DR DNASU; 386684; -.
DR Ensembl; ENST00000391618.1; ENSP00000375476.1; ENSG00000212933.1.
DR GeneID; 386684; -.
DR KEGG; hsa:386684; -.
DR MANE-Select; ENST00000391618.1; ENSP00000375476.1; NM_198698.1; NP_941971.1.
DR UCSC; uc002zfs.1; human.
DR CTD; 386684; -.
DR GeneCards; KRTAP12-4; -.
DR HGNC; HGNC:20532; KRTAP12-4.
DR HPA; ENSG00000212933; Not detected.
DR MalaCards; KRTAP12-4; -.
DR neXtProt; NX_P60329; -.
DR PharmGKB; PA134932676; -.
DR VEuPathDB; HostDB:ENSG00000212933; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00960000187213; -.
DR HOGENOM; CLU_138013_0_0_1; -.
DR InParanoid; P60329; -.
DR OMA; ICHTSCS; -.
DR OrthoDB; 1616617at2759; -.
DR PhylomeDB; P60329; -.
DR TreeFam; TF339135; -.
DR PathwayCommons; P60329; -.
DR Reactome; R-HSA-6805567; Keratinization.
DR SignaLink; P60329; -.
DR BioGRID-ORCS; 386684; 117 hits in 1055 CRISPR screens.
DR GenomeRNAi; 386684; -.
DR Pharos; P60329; Tdark.
DR PRO; PR:P60329; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; P60329; protein.
DR Bgee; ENSG00000212933; Expressed in blood and 4 other tissues.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0045095; C:keratin filament; IEA:InterPro.
DR InterPro; IPR002494; KAP.
DR PANTHER; PTHR23262; PTHR23262; 1.
PE 1: Evidence at protein level;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..112
FT /note="Keratin-associated protein 12-4"
FT /id="PRO_0000185199"
FT REPEAT 10..14
FT /note="1"
FT REPEAT 20..24
FT /note="2"
FT REPEAT 25..29
FT /note="3"
FT REPEAT 35..39
FT /note="4"
FT REPEAT 41..45
FT /note="5"
FT REPEAT 46..50
FT /note="6"
FT REPEAT 56..60
FT /note="7"
FT REPEAT 61..65
FT /note="8"
FT REPEAT 66..70
FT /note="9"
FT REPEAT 71..75
FT /note="10"
FT REPEAT 76..80
FT /note="11"
FT REPEAT 81..85
FT /note="12"
FT REPEAT 86..90
FT /note="13"
FT REPEAT 91..95
FT /note="14"
FT REPEAT 96..100
FT /note="15"
FT REGION 10..100
FT /note="15 X 5 AA approximate repeats"
SQ SEQUENCE 112 AA; 11433 MW; 05DC36FA889EB98A CRC64;
MCHTSHSSGC PMACPGSPCC VPSTCYPPEG YGTSCCCSAP CVALLCRPLC GVSTCCQPAC
CVPSPCQVAC CVPVSCKPVL CVASFCPTSG CCQPFCPTLV YRPVTWSTPT GC
