KR416_HUMAN
ID KR416_HUMAN Reviewed; 235 AA.
AC G5E9R7;
DT 23-FEB-2022, integrated into UniProtKB/Swiss-Prot.
DT 14-DEC-2011, sequence version 1.
DT 03-AUG-2022, entry version 77.
DE RecName: Full=Putative keratin-associated protein 4-16 {ECO:0000305};
DE AltName: Full=Keratin-associated protein 4 pseudogene 1 {ECO:0000312|HGNC:HGNC:18921};
DE AltName: Full=Keratin-associated protein 4-16 pseudogene {ECO:0000312|HGNC:HGNC:18921};
GN Name=KRTAP4-16 {ECO:0000312|HGNC:HGNC:18921};
GN Synonyms=KRTAP4-16P {ECO:0000312|HGNC:HGNC:18921},
GN KRTAP4P1 {ECO:0000312|HGNC:HGNC:18921};
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 [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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 [3]
RP FUNCTION, SUBUNIT, POLYMORPHISM, AND CAUTION.
RX PubMed=15955084; DOI=10.1111/j.0022-202x.2005.23662.x;
RA Kariya N., Shimomura Y., Ito M.;
RT "Size polymorphisms in the human ultrahigh sulfur hair keratin-associated
RT protein 4, KAP4, gene family.";
RL J. Invest. Dermatol. 124:1111-1118(2005).
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. {ECO:0000305|PubMed:15955084}.
CC -!- SUBUNIT: Interacts with hair keratins. {ECO:0000305|PubMed:15955084}.
CC -!- POLYMORPHISM: Numerous size polymorphism are present in KRTAP4 gene
CC family, which are mainly due to variations in the sequence encoding
CC cysteine-rich repeat segments. {ECO:0000269|PubMed:15955084}.
CC -!- SIMILARITY: Belongs to the KRTAP type 4 family. {ECO:0000305}.
CC -!- CAUTION: Could be the product of a pseudogene.
CC {ECO:0000305|PubMed:15955084}.
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DR EMBL; AC037482; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC100808; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471152; EAW60706.1; -; Genomic_DNA.
DR AlphaFoldDB; G5E9R7; -.
DR BioMuta; KRTAP4-16; -.
DR PaxDb; G5E9R7; -.
DR PeptideAtlas; G5E9R7; -.
DR PRIDE; G5E9R7; -.
DR Ensembl; ENST00000440582.1; ENSP00000411198.1; ENSG00000241241.1.
DR Ensembl; ENST00000576939.1; ENSP00000461664.1; ENSG00000262520.1.
DR MANE-Select; ENST00000440582.1; ENSP00000411198.1; NM_001396067.1; NP_001382996.1.
DR UCSC; uc060faq.1; human.
DR GeneCards; KRTAP4-16; -.
DR HGNC; HGNC:18921; KRTAP4-16.
DR OpenTargets; ENSG00000241241; -.
DR VEuPathDB; HostDB:ENSG00000241241; -.
DR eggNOG; KOG4726; Eukaryota.
DR GeneTree; ENSGT00940000163975; -.
DR HOGENOM; CLU_1179881_0_0_1; -.
DR InParanoid; G5E9R7; -.
DR OMA; WCCSPYC; -.
DR TreeFam; TF351356; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; G5E9R7; protein.
DR Bgee; ENSG00000241241; Expressed in leg and 4 other tissues.
DR GO; GO:0005829; C:cytosol; IEA:UniProt.
DR GO; GO:0045095; C:keratin filament; IEA:InterPro.
DR InterPro; IPR002494; KAP.
DR PANTHER; PTHR23262; PTHR23262; 2.
DR Pfam; PF13885; Keratin_B2_2; 1.
PE 5: Uncertain;
KW Keratin; Reference proteome; Repeat.
FT CHAIN 1..235
FT /note="Putative keratin-associated protein 4-16"
FT /id="PRO_0000454664"
FT REPEAT 23..27
FT /note="1"
FT REPEAT 28..32
FT /note="2"
FT REPEAT 33..37
FT /note="3"
FT REPEAT 48..52
FT /note="4"
FT REPEAT 53..57
FT /note="5"
FT REPEAT 58..62
FT /note="6"
FT REPEAT 63..67
FT /note="7"
FT REPEAT 68..72
FT /note="8"
FT REPEAT 78..82
FT /note="9"
FT REPEAT 83..87
FT /note="10"
FT REPEAT 88..92
FT /note="11"
FT REPEAT 93..97
FT /note="12"
FT REPEAT 103..107
FT /note="13"
FT REPEAT 108..112
FT /note="14"
FT REPEAT 118..122
FT /note="15"
FT REPEAT 128..132
FT /note="16"
FT REGION 1..132
FT /note="16 X 5 AA repeats of C-C-[GIKRQVHEML]-[SPTRV]-
FT [STVQRCP]"
FT REGION 203..235
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 203..226
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 235 AA; 24569 MW; 42BD4187BA5398C3 CRC64;
MCSSKMPCSP SASSLCAASP PNCCHPSCCQ TTCCRTTSCS HSCSVSSCCR PQCCHSVCCQ
PTCCRPSCCQ TTCCRTTCCH PSCCVSSCCR PQCCHSVCFQ PTCCHPSCCI SSSCCPSCCE
SSCCCPCCCL RPVCGRVSCH VTCYHPTCVI STCPHPLCCA SPPLPLPFPS PPVPLPFFLS
LALPSPPRPS PPLLSPVLIP SPSPSPSLPS LSPPLPSPPL PSPHFPSVNP KSMLQ