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

    Gene ID: 386672, updated on 2-Nov-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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    See KRTAP10-4 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44573729..44575371)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (42934129..42935771)
    RS_2024_09 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 (10) 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Miscellaneous