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

Gene ID: 728255, updated on 5-Aug-2022

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
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Genomic context

See KRTAP1-4 in Genome Data Viewer
Location:
17q21.2
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (41029351..41030195, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41893815..41894659, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39185603..39186447, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene keratin associated protein 3-1 Neighboring gene keratin associated protein 1-5 Neighboring gene keratin associated protein 1-3 Neighboring gene keratin associated protein 1-1

Genomic regions, transcripts, and products

General gene information

Markers

Homology

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

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)

  1. NM_001257305.2NP_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:3121
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam13885
    Location:335
    Keratin_B2_2; Keratin, high sulfur B2 protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    41029351..41030195 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003871091.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    178746..179590 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    41893815..41894659 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)