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    KRTAP19-6 keratin associated protein 19-6 [ Homo sapiens (human) ]

    Gene ID: 337973, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KRTAP19-6provided by HGNC
    Official Full Name
    keratin associated protein 19-6provided by HGNC
    Primary source
    HGNC:HGNC:18941
    See related
    Ensembl:ENSG00000186925 AllianceGenome:HGNC:18941
    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
    KAP19.6
    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 KRTAP19-6 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 (30541535..30541864, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (28907495..28907823, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (31913854..31914183, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene keratin associated protein 19-10, pseudogene Neighboring gene keratin associated protein 19-11, pseudogene Neighboring gene keratin associated protein 19-7 Neighboring gene keratin associated protein 22-2

    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. 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
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. 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)

    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 19-6

    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_001303120.1 → NP_001290049.1  keratin-associated protein 19-6 isoform KRTAP19-6-V2

      See identical proteins and their annotated locations for NP_001290049.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (KRTAP19-6-V2), which is produced by a polymorphic allele found in the alternate CHM1_1.1 and HuRef genome assemblies, differs at a single nucleotide position (reference SNP rs1023364) and contains a 1-nucleotide deletion (reference SNP rs5843453), resulting in a longer 3' coding region, compared to variant KRTAP19-6-V1. The encoded isoform (KRTAP19-6-V2) has a distinct and longer C-terminus, compared to isoform KRTAP19-6-V1.
      Source sequence(s)
      AB096948, BC101815
      UniProtKB/TrEMBL
      A4FU57

    2. NM_181612.3 → NP_853643.1  keratin-associated protein 19-6 isoform KRTAP19-6-V1

      See identical proteins and their annotated locations for NP_853643.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (KRTAP19-6-V1), which is produced by the primary reference genome allele, represents the longer transcript and encodes the shorter isoform (KRTAP19-6-V1).
      Source sequence(s)
      AB096947, AP000567, BC101813
      Consensus CDS
      CCDS13598.1
      UniProtKB/Swiss-Prot
      Q3LI70, Q3LI71
      Related
      ENSP00000375107.3, ENST00000334046.5

    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
      30541535..30541864 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      28907495..28907823 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3LI70.2 GenPept UniProtKB/Swiss-Prot:Q3LI70

    Gene LinkOut

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

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