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    KRTAP5-1 keratin associated protein 5-1 [ Homo sapiens (human) ]

    Gene ID: 387264, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KRTAP5-1provided by HGNC
    Official Full Name
    keratin associated protein 5-1provided by HGNC
    Primary source
    HGNC:HGNC:23596
    See related
    Ensembl:ENSG00000205869 MIM:148022; AllianceGenome:HGNC:23596
    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
    KRN1L; KRTAP5.1
    Summary
    Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    all
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    Genomic context

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    See KRTAP5-1 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1584342..1585283, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1605572..1606513, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902607 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:1534293-1534794 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:1534795-1535294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1541250-1541750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1541751-1542251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4289 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:1547587-1548086 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:1553250-1553750 Neighboring gene uncharacterized LOC124902608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1576597-1577394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1578991-1579788 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1580587-1581382 Neighboring gene dual specificity phosphatase 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1588223-1589161 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1589162-1590100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1590101-1591039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1592555-1593102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1593651-1594196 Neighboring gene KRTAP5-1/KRTAP5-2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1617579-1618152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:1618727-1619300 Neighboring gene keratin associated protein 5-2 Neighboring gene keratin associated protein 5-3

    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. Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients. Sun XK, et al. J Dermatol Sci, 2002 Sep. PMID 12234709
    2. Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles. Soma T, et al. J Dermatol Sci, 2006 Mar. PMID 16442267
    3. Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11. Yahagi S, et al. Biochem Biophys Res Commun, 2004 Jun 4. PMID 15144888
    4. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel mutation designated as E477K of K1 was identified in epidermolytic hyperkeratosis.
      Title: Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.
    2. KAP5 gene expression in human hair follicles is regulated by Runx1
      Title: Runx1 transcription factor is involved in the regulation of KAP5 gene expression in human hair follicles.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    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 intermediate filament IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    keratin-associated protein 5-1
    Names
    keratin-associated protein 5.1
    ultrahigh sulfur keratin-associated protein 5.1

    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_001005922.1 → NP_001005922.1  keratin-associated protein 5-1

      Status: VALIDATED

      Source sequence(s)
      AB126070
      Consensus CDS
      CCDS31330.1
      UniProtKB/Swiss-Prot
      Q6L8H4
      Related
      ENSP00000371606.2, ENST00000382171.2

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      1584342..1585283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791792.1 Reference GRCh38.p14 PATCHES

      Range
      324318..325259 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187584.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      66579..67520 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187657.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      60879..61820 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6L8H4.1 GenPept UniProtKB/Swiss-Prot:Q6L8H4

    Gene LinkOut

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

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