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    KRTDAP keratinocyte differentiation associated protein [ Homo sapiens (human) ]

    Gene ID: 388533, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KRTDAPprovided by HGNC
    Official Full Name
    keratinocyte differentiation associated proteinprovided by HGNC
    Primary source
    HGNC:HGNC:16313
    See related
    Ensembl:ENSG00000188508 MIM:617212; AllianceGenome:HGNC:16313
    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
    KDAP; UNQ467
    Summary
    This gene encodes a protein which may function in the regulation of keratinocyte differentiation and maintenance of stratified epithelia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Restricted expression toward skin (RPKM 815.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See KRTDAP in Genome Data Viewer
    Location:
    19q13.12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35487324..35490464, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (38032044..38038270, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35978226..35981366, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927522 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:35923796-35924995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35927445-35928408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35928409-35929370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14479 Neighboring gene free fatty acid receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14481 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35959455-35960028 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35961751-35962324 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10527 Neighboring gene uncharacterized LOC124904703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35985748-35986694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35991019-35991520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35991521-35992020 Neighboring gene dermokine Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14482

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Characterization of Kdap, a protein secreted by keratinocytes. Tsuchida S, et al. J Invest Dermatol, 2004 May. PMID 15140226
    2. Kdap, a novel gene associated with the stratification of the epithelium. Oomizu S, et al. Gene, 2000 Oct 3. PMID 11054531
    3. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. Adams MD, et al. Nature, 1995 Sep 28. PMID 7566098
    4. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
    5. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Kdap may serve as a soluble regulator of keratinocyte differentiation.
      Title: Characterization of Kdap, a protein secreted by keratinocytes.
    Submit: New GeneRIF Correction

    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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    Markers

    Homology

    Clone Names

    • MGC163373

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epidermis development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lamellar body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    keratinocyte differentiation-associated protein
    Names
    KIPV467

    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.

    Genomic

    1. NG_030050.1 RefSeqGene

      Range
      5068..8208
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244847.2 → NP_001231776.1  keratinocyte differentiation-associated protein isoform 2 precursor

      See identical proteins and their annotated locations for NP_001231776.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AI184682, AY359007, BC130501, W95920
      Consensus CDS
      CCDS59377.1
      UniProtKB/Swiss-Prot
      P60985
      Related
      ENSP00000470713.1, ENST00000484218.6
      Conserved Domains (1) summary
      pfam15200
      Location:25 → 85
      KRTDAP; Keratinocyte differentiation-associated

    2. NM_207392.3 → NP_997275.1  keratinocyte differentiation-associated protein isoform 1 precursor

      See identical proteins and their annotated locations for NP_997275.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI184682, AY359007, BC130501
      Consensus CDS
      CCDS12462.1
      UniProtKB/Swiss-Prot
      A1L4D7, P60985
      Related
      ENSP00000339251.3, ENST00000338897.4
      Conserved Domains (1) summary
      pfam15200
      Location:25 → 99
      KRTDAP; Keratinocyte differentiation-associated

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      35487324..35490464 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      38032044..38038270 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320952.1 → XP_054176927.1  keratinocyte differentiation-associated protein isoform X1

      UniProtKB/Swiss-Prot
      A1L4D7, P60985
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60985.1 GenPept UniProtKB/Swiss-Prot:P60985

    Gene LinkOut

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

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