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    KRTAP10-12 keratin associated protein 10-12 [ Homo sapiens (human) ]

    Gene ID: 386685, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KRTAP10-12provided by HGNC
    Official Full Name
    keratin associated protein 10-12provided by HGNC
    Primary source
    HGNC:HGNC:20533
    See related
    Ensembl:ENSG00000189169 AllianceGenome:HGNC:20533
    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
    KAP10.12; KRTAP18-12; KRTAP18.12
    Summary
    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 KRTAP10-12 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44697172..44698044)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (43057612..43058484)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (46117087..46117959)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene thrombospondin type laminin G domain and EAR repeats Neighboring gene keratin associated protein 12-1 Neighboring gene keratin associated protein 12-5, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46116947-46117626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46117627-46118306 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46122289-46123024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46123025-46123760 Neighboring gene keratin associated protein 10-13, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46129182-46129922 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46129923-46130663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46130677-46131447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46150268-46150768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46150769-46151269 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46151907-46152582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46152583-46153258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46155285-46155958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46155959-46156634 Neighboring gene Sharpr-MPRA regulatory region 5612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46184321-46184886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46185571-46186334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:46186335-46187098 Neighboring gene Sharpr-MPRA regulatory region 676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:46188940-46189440 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:46208307-46208531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18575 Neighboring gene ubiquitin conjugating enzyme E2 G2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:46220961-46221916

    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. A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3. Shibuya K, et al. Genomics, 2004 Apr. PMID 15028290
    2. The DNA sequence of human chromosome 21. Hattori M, et al. Nature, 2000 May 18. PMID 10830953
    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 10-12
    Names
    high sulfur keratin-associated protein 10.12
    keratin-associated protein 18-12

    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_198699.1 → NP_941972.1  keratin-associated protein 10-12

      See identical proteins and their annotated locations for NP_941972.1

      Status: VALIDATED

      Source sequence(s)
      AB076364
      Consensus CDS
      CCDS42967.1
      UniProtKB/Swiss-Prot
      B2RPA3, P60413
      Related
      ENSP00000383216.3, ENST00000400365.3
      Conserved Domains (2) summary
      pfam01500
      Location:83 → 245
      Keratin_B2; Keratin, high sulfur B2 protein
      pfam13885
      Location:84 → 127
      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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      44697172..44698044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      43057612..43058484
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60413.1 GenPept UniProtKB/Swiss-Prot:P60413

    Gene LinkOut

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

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