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

Gene ID: 388533, updated on 9-Dec-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
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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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