KRTAP1-4 keratin associated protein 1-4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRTAP1-4provided by HGNC
Official Full Name: keratin associated protein 1-4provided by HGNC
Primary source: HGNC:HGNC:18904
See related: Ensembl:ENSG00000204887 MIM:608821; AllianceGenome:HGNC:18904
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KAP1.4; KRTAP1.4
Summary: 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]
Orthologs: all
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Genomic context

Location:: 17q21.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (41029351..41030195, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (41893815..41894659, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (39185603..39186447, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

no polymorphic alleles were found for the hKAP1.4 and hKAP1.5 genes in Japanese and Caucasian individuals
Title: Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in keratin filament	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: keratin-associated protein 1-4

Names: high sulfur keratin-associated protein 1.4; keratin-associated protein 1.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001257305.2 → NP_001244234.1 keratin-associated protein 1-4

See identical proteins and their annotated locations for NP_001244234.1

Status: VALIDATED

Source sequence(s)

AC007455

Consensus CDS

CCDS58548.1

UniProtKB/Swiss-Prot

A6NJ92, P0C5Y4

Related

ENSP00000366976.4, ENST00000377747.5

Conserved Domains (2) summary

pfam01500
Location:3 → 121

Keratin_B2; Keratin, high sulfur B2 protein

pfam13885
Location:3 → 35

Keratin_B2_2; Keratin, high sulfur B2 protein