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Tdark Keratin-associated protein 1-4

In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009]

 Comments

Property Summary

NCBI Gene PubMed Count 3
PubMed Score 1.71
PubTator Score 0.25

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (1)

Disease Target Count P-value
diabetes mellitus 1663 1.1e-03
psoriasis 6685 2.2e-03

Expression

  Differential Expression (2)

Disease log2 FC p
diabetes mellitus 1.100 1.1e-03
psoriasis -1.400 2.2e-03

Synonym

Accession P0C5Y4 A6NJ92
Symbols KAP1.4
KRTAP1.4

Gene

KRTAP1-4

 UniProt Keyword (4)

 GO Component (1)

 Compartment GO Term (1)

 HCA RNA Cell Line (2)

Pathway (2)

Gene RIF (1)

PMID Text
12228244 no polymorphic alleles were found for the hKAP1.4 and hKAP1.5 genes in Japanese and Caucasian individuals

AA Sequence 

MASCSTSGTCGSSCCQPSCCETSCCQPSCCQTSSCGTGCGIGGGIGYGQEGSGGSVSTRIRWCHPDCHVE      1 - 70
GTCLPPCYLVSCTPPSCCQLHHAEASCCRPSYCGQSCCRPACCCHCCEPTC                        71 - 121
//

Text Mined References (3)

PMID Year Title
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
12228244 2002 Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family.
11279113 2001 Characterization of a cluster of human high/ultrahigh sulfur keratin-associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21.