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    KRTAP2-1 keratin associated protein 2-1 [ Homo sapiens (human) ]

    Gene ID: 81872, updated on 9-Dec-2024

    Summary

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    Official Symbol
    KRTAP2-1provided by HGNC
    Official Full Name
    keratin associated protein 2-1provided by HGNC
    Primary source
    HGNC:HGNC:16775
    See related
    Ensembl:ENSG00000212725 AllianceGenome:HGNC:16775
    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
    KAP2.1A; KRTAP2.1A
    Summary
    Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See KRTAP2-1 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 (41046541..41047316, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (41911025..41911800, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (39202793..39203568, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene keratin associated protein 1-3 Neighboring gene keratin associated protein 1-1 Neighboring gene keratin associated protein 2-2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39215536-39216110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:39216111-39216685 Neighboring gene keratin associated protein 2-3

    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. 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. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, 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)

    General gene information

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    Homology

    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 2-1
    Names
    high sulfur keratin-associated protein 2.1
    keratin associated protein KRTAP2.1A
    keratin-associated protein 2.1

    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_001123387.1 → NP_001116859.1  keratin-associated protein 2-1

      See identical proteins and their annotated locations for NP_001116859.1

      Status: VALIDATED

      Source sequence(s)
      AC007455
      Consensus CDS
      CCDS42325.1
      UniProtKB/Swiss-Prot
      Q9BYU5
      Related
      ENSP00000375238.3, ENST00000391419.3
      Conserved Domains (1) summary
      pfam01500
      Location:2 → 128
      Keratin_B2; 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
      41046541..41047316 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
      195934..196709 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      41911025..41911800 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_030977.1: Suppressed sequence

      Description
      NM_030977.1: This RefSeq was permanently suppressed because it was based on a sequence from a different locus.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYU5.2 GenPept UniProtKB/Swiss-Prot:Q9BYU5

    Gene LinkOut

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

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