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KRTAP10-4 keratin associated protein 10-4 [ Homo sapiens (human) ]

Gene ID: 386672, updated on 7-Apr-2024

Summary

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Official Symbol
KRTAP10-4provided by HGNC
Official Full Name
keratin associated protein 10-4provided by HGNC
Primary source
HGNC:HGNC:20521
See related
Ensembl:ENSG00000215454 AllianceGenome:HGNC:20521
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KAP10.4; KAP18-4; KRTAP10.4; KRTAP18-4; KRTAP18.4
Summary
This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [provided by RefSeq, Apr 2014]
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Genomic context

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Location:
21q22.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44573729..44575371)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (42934129..42935771)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45993606..45995248)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene thrombospondin type laminin G domain and EAR repeats Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45969969-45970518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45970519-45971066 Neighboring gene keratin associated protein 10-2 Neighboring gene keratin associated protein 10-3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45993821-45994338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45994339-45994857 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45999625-46000215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46000216-46000805 Neighboring gene keratin associated protein 10-5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46009439-46010260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46011233-46011980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46011981-46012726 Neighboring gene keratin associated protein 10-6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21. Rogers MA, et al. J Invest Dermatol, 2004 Jan. PMID 14962103
  2. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. Shibuya K, et al. Genomics, 2004 Apr. PMID 15028290
  3. Characterization of a first domain of human high glycine-tyrosine and high sulfur keratin-associated protein (KAP) genes on chromosome 21q22.1. Rogers MA, et al. J Biol Chem, 2002 Dec 13. PMID 12359730
  4. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article
  5. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC149545, MGC149546

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 10-4
Names
high sulfur keratin-associated protein 10.4
keratin-associated protein 18.4

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_198687.2 → NP_941960.2  keratin-associated protein 10-4

    See identical proteins and their annotated locations for NP_941960.2

    Status: REVIEWED

    Source sequence(s)
    AP001067
    Consensus CDS
    CCDS42957.1
    UniProtKB/Swiss-Prot
    P60372, Q08AS0
    Related
    ENSP00000383225.3, ENST00000400374.4
    Conserved Domains (3) summary
    pfam01500
    Location:207 → 387
    Keratin_B2; Keratin, high sulfur B2 protein
    pfam05287
    Location:52 → 233
    PMG; PMG protein
    pfam13885
    Location:89 → 130
    Keratin_B2_2; Keratin, high sulfur B2 protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    44573729..44575371
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    42934129..42935771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P60372.2 GenPept UniProtKB/Swiss-Prot:P60372

Gene LinkOut

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Chemical Information
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Research Materials
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