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    KRTAP9-9 keratin associated protein 9-9 [ Homo sapiens (human) ]

    Gene ID: 81870, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KRTAP9-9provided by HGNC
    Official Full Name
    keratin associated protein 9-9provided by HGNC
    Primary source
    HGNC:HGNC:16773
    See related
    Ensembl:ENSG00000198083 AllianceGenome:HGNC:16773
    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
    KAP9.5; KAP9.9; KRTAP9-5; KRTAP9.9
    Summary
    This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. Alternative haplotypes of this gene are represented in the GRCh38 reference genome assembly. [provided by RefSeq, Dec 2015]
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    Genomic context

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    See KRTAP9-9 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 (41255384..41256364)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (42121135..42122130)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39411636..39412616)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene keratin associated protein 9-8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39405666-39406220 Neighboring gene keratin associated protein 9-4 Neighboring gene keratin associated protein 9-6 Neighboring gene keratin associated protein 9-11, pseudogene

    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. 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
    2. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. Drissi R, et al. Mol Cell Proteomics, 2015 Jul. PMID 25963833, Free PMC Article

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    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

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    Preferred Names
    keratin-associated protein 9-9
    Names
    keratin-associated protein 9-5
    keratin-associated protein 9.5
    ultrahigh sulfur keratin-associated protein 9.9

    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_001318227.2 → NP_001305156.1  keratin-associated protein 9-9 isoform KRTAP9.9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (KRTAP9.9) represents the longer transcript and encodes the longer isoform (KRTAP9.9). It is produced from an alternate haplotype that is represented by the ALT_REF_LOCI_1 assembly unit of the GRCh38 reference genome assembly.
      Source sequence(s)
      AC277787
      UniProtKB/Swiss-Prot
      Q9BYP9
      Conserved Domains (1) summary
      pfam13885
      Location:37 → 81
      Keratin_B2_2; Keratin, high sulfur B2 protein

    2. NM_030975.2 → NP_112237.2  keratin-associated protein 9-9 isoform KRTAP9.5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (KRTAP9.5) lacks an in-frame segment of the 5' coding region and includes a base change in the 3' UTR, compared to variant KRTAP9.9. The encoded isoform (KRTAP9.5) is 5 aa shorter than isoform KRTAP9.9. This variant is produced from the primary chromosome 17 assembly unit of the GRCh38 reference genome assembly.
      Source sequence(s)
      AC006070
      Consensus CDS
      CCDS54127.1
      UniProtKB/Swiss-Prot
      Q9BYP9
      Related
      ENSP00000377576.1, ENST00000394008.1
      Conserved Domains (2) summary
      pfam01500
      Location:12 → 168
      Keratin_B2; Keratin, high sulfur B2 protein
      pfam13885
      Location:32 → 76
      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
      41255384..41256364
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791801.1 Reference GRCh38.p14 PATCHES

      Range
      205514..206509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003871092.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      40474..41469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003871093.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      50746..51726 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      42121135..42122130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYP9.1 GenPept UniProtKB/Swiss-Prot:Q9BYP9

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