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    KRTAP20-3 keratin associated protein 20-3 [ Homo sapiens (human) ]

    Gene ID: 337985, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KRTAP20-3provided by HGNC
    Official Full Name
    keratin associated protein 20-3provided by HGNC
    Primary source
    HGNC:HGNC:34001
    See related
    Ensembl:ENSG00000206104 AllianceGenome:HGNC:34001
    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
    KAP19D; KAP20.3; KRTAP19P4
    Summary
    Predicted to be located in intermediate filament. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    all
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    Genomic context

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    See KRTAP20-3 in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (30642864..30643136)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (29009802..29010074)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (32015183..32015455)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene keratin associated protein 20-4 Neighboring gene keratin associated protein 20-2 Neighboring gene uncharacterized LOC105372773 Neighboring gene keratin associated protein 21-3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:32114040-32114540 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:32114541-32115041 Neighboring gene keratin associated protein 21-4, 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 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
    2. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953

    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

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in intermediate filament IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    keratin-associated protein 20-3
    Names
    keratin associated protein 19 pseudogene 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_001128077.1 → NP_001121549.1  keratin-associated protein 20-3

      See identical proteins and their annotated locations for NP_001121549.1

      Status: VALIDATED

      Source sequence(s)
      AP001069
      Consensus CDS
      CCDS46642.1
      UniProtKB/Swiss-Prot
      Q3LI60
      Related
      ENSP00000372276.2, ENST00000382826.2

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      30642864..30643136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      29009802..29010074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_002672.3: Suppressed sequence

      Description
      NG_002672.3: This RefSeq was permanently suppressed because it is now thought that this gene encodes a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3LI60.1 GenPept UniProtKB/Swiss-Prot:Q3LI60

    Gene LinkOut

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

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