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    KRTCAP3 keratinocyte associated protein 3 [ Homo sapiens (human) ]

    Gene ID: 200634, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KRTCAP3provided by HGNC
    Official Full Name
    keratinocyte associated protein 3provided by HGNC
    Primary source
    HGNC:HGNC:28943
    See related
    Ensembl:ENSG00000157992 MIM:619261; AllianceGenome:HGNC:28943
    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
    KCP3
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in colon (RPKM 15.6), small intestine (RPKM 13.3) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KRTCAP3 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27442381..27446481)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27484734..27488837)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27665248..27669348)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1G Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27618171-27618672 Neighboring gene ferritin heavy chain 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15507 Neighboring gene nuclear receptor binding protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27665383-27665925 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:27676057-27677256 Neighboring gene intraflagellar transport 172 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27681686-27682885 Neighboring gene RNA, U6 small nuclear 986, pseudogene Neighboring gene fibronectin type III domain containing 4

    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. Identification of novel genes for secreted and membrane-anchored proteins in human keratinocytes. Bonkobara M, et al. Br J Dermatol, 2003 Apr. PMID 12752121
    2. Proteome-scale Binary Interactomics in Human Cells. Lievens S, et al. Mol Cell Proteomics, 2016 Dec. PMID 27803151, Free PMC Article
    3. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. Weissglas-Volkov D, et al. J Med Genet, 2013 May. PMID 23505323, Free PMC Article
    4. Genome-scale RNAi screen for host factors required for HIV replication. Zhou H, et al. Cell Host Microbe, 2008 Nov 13. PMID 18976975
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621

    See all (11) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of keratinocyte associated protein 3 (KRTCAP3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126736, MGC126738

    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 membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    keratinocyte-associated protein 3
    Names
    keratinocytes associated protein 3

    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_001168364.2 → NP_001161836.1  keratinocyte-associated protein 3

      See identical proteins and their annotated locations for NP_001161836.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 - 3 encode the same protein.
      Source sequence(s)
      AC074117, BC101689, BM794111, CB160871
      Consensus CDS
      CCDS1754.1
      UniProtKB/Swiss-Prot
      B7ZL49, Q53RY4, Q6UW42, Q8IWS5
      Related
      ENSP00000442400.1, ENST00000543753.5
      Conserved Domains (1) summary
      pfam12304
      Location:19 → 206
      BCLP; Beta-casein like protein

    2. NM_001321325.2 → NP_001308254.1  keratinocyte-associated protein 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Variants 1 - 3 encode the same protein.
      Source sequence(s)
      AY358993, BC143574
      Consensus CDS
      CCDS1754.1
      UniProtKB/Swiss-Prot
      B7ZL49, Q53RY4, Q6UW42, Q8IWS5
      Related
      ENSP00000384689.1, ENST00000407293.5
      Conserved Domains (1) summary
      pfam12304
      Location:19 → 206
      BCLP; Beta-casein like protein

    3. NM_173853.4 → NP_776252.2  keratinocyte-associated protein 3

      See identical proteins and their annotated locations for NP_776252.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 - 3 encode the same protein.
      Source sequence(s)
      AY157576, BC101689
      Consensus CDS
      CCDS1754.1
      UniProtKB/Swiss-Prot
      B7ZL49, Q53RY4, Q6UW42, Q8IWS5
      Related
      ENSP00000288873.3, ENST00000288873.7
      Conserved Domains (1) summary
      pfam12304
      Location:19 → 206
      BCLP; Beta-casein like 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27442381..27446481
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443704.1 → XP_047299660.1  keratinocyte-associated protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B7ZL49, Q53RY4, Q6UW42, Q8IWS5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27484734..27488837
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341003.1 → XP_054196978.1  keratinocyte-associated protein 3 isoform X1

      UniProtKB/Swiss-Prot
      B7ZL49, Q53RY4, Q6UW42, Q8IWS5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53RY4.1 GenPept UniProtKB/Swiss-Prot:Q53RY4

    Gene LinkOut

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

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