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    KRTAP4-8 keratin associated protein 4-8 [ Homo sapiens (human) ]

    Gene ID: 728224, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KRTAP4-8provided by HGNC
    Official Full Name
    keratin associated protein 4-8provided by HGNC
    Primary source
    HGNC:HGNC:17230
    See related
    Ensembl:ENSG00000204880 AllianceGenome:HGNC:17230
    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
    KAP4.8; KRTAP4.8
    Summary
    Involved in hair cycle. 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 KRTAP4-8 in Genome Data Viewer
    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 (41096981..41098142, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41961756..41962929, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39253233..39254394, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene keratin associated protein 2-5, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39240697-39241226 Neighboring gene keratin associated protein 4-7 Neighboring gene keratin associated protein 4-16 Neighboring gene keratin associated protein 4-9

    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. Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family. Kariya N, et al. J Invest Dermatol, 2005 Jun. PMID 15955084
    2. Hair greying is associated with active hair growth. Choi HI, et al. Br J Dermatol, 2011 Dec. PMID 21916889
    3. Characterization of a cluster of human high/ultrahigh sulfur keratin-associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21. Rogers MA, et al. J Biol Chem, 2001 Jun 1. PMID 11279113
    4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody MC, et al. Nature, 2006 Apr 20. PMID 16625196, Free PMC Article
    5. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995

    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)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in hair cycle IDA
    Inferred from Direct Assay
    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 4-8
    Names
    keratin associated protein 4.8
    ultrahigh sulfur keratin-associated protein 4.8

    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_001322457.1 → NP_001309386.1  keratin-associated protein 4-8 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents an alternate allele located on the reference alternate locus, ALT_REF_LOCI_1.
      Source sequence(s)
      AC037482
      UniProtKB/TrEMBL
      A0A0G2JLE6
      Conserved Domains (2) summary
      pfam01500
      Location:5 → 114
      Keratin_B2; Keratin, high sulfur B2 protein
      pfam13885
      Location:69 → 113
      Keratin_B2_2; Keratin, high sulfur B2 protein

    2. NM_031960.3 → NP_114166.1  keratin-associated protein 4-8 isoform 1

      See identical proteins and their annotated locations for NP_114166.1

      Status: VALIDATED

      Source sequence(s)
      AC100808
      Consensus CDS
      CCDS45674.1
      UniProtKB/Swiss-Prot
      A8MSH3, Q9BYQ9
      Related
      ENSP00000328444.4, ENST00000333822.5
      Conserved Domains (2) summary
      pfam01500
      Location:42 → 184
      Keratin_B2; Keratin, high sulfur B2 protein
      pfam13885
      Location:59 → 103
      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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      41096981..41098142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791801.1 Reference GRCh38.p14 PATCHES

      Range
      46784..47945 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
      246639..247812 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      41961756..41962929 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYQ9.4 GenPept UniProtKB/Swiss-Prot:Q9BYQ9

    Gene LinkOut

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

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