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    KAT14 lysine acetyltransferase 14 [ Homo sapiens (human) ]

    Gene ID: 57325, updated on 27-Dec-2024

    Summary

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    Official Symbol
    KAT14provided by HGNC
    Official Full Name
    lysine acetyltransferase 14provided by HGNC
    Primary source
    HGNC:HGNC:15904
    See related
    Ensembl:ENSG00000149474 MIM:617501; AllianceGenome:HGNC:15904
    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
    ATAC2; CRP2BP; CSRP2BP; PRO1194; dJ717M23.1
    Summary
    CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
    Expression
    Ubiquitous expression in brain (RPKM 8.7), testis (RPKM 8.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KAT14 in Genome Data Viewer
    Location:
    20p11.23
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (18137153..18188035)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (18188023..18238897)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (18117797..18168679)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:18071206-18071706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:18073813-18074384 Neighboring gene ribosomal protein L15 pseudogene 1 Neighboring gene RNA, U7 small nuclear 137 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12701 Neighboring gene PET117 cytochrome c oxidase chaperone Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:18183579-18184079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:18195554-18196054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:18196055-18196555 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:18205955-18206454 Neighboring gene GGCT pseudogene 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:18232893-18234092 Neighboring gene RNA, 7SL, cytoplasmic 14, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Lysine acetyltransferase 14 mediates TGF-β-induced fibrosis in ovarian endometrioma via co-operation with serum response factor. Gong Y, et al. J Transl Med, 2024 Jun 12. PMID 38867256, Free PMC Article
    2. The cysteine- and glycine-rich LIM domain protein CRP2 specifically interacts with a novel human protein (CRP2BP). Weiskirchen R, et al. Biochem Biophys Res Commun, 2000 Aug 11. PMID 10924333
    3. WD repeat-containing protein 5, a ubiquitously expressed histone methyltransferase adaptor protein, regulates smooth muscle cell-selective gene activation through interaction with pituitary homeobox 2. Gan Q, et al. J Biol Chem, 2011 Jun 17. PMID 21531708, Free PMC Article
    4. SAGA and ATAC histone acetyl transferase complexes regulate distinct sets of genes and ATAC defines a class of p300-independent enhancers. Krebs AR, et al. Mol Cell, 2011 Nov 4. PMID 22055187, Free PMC Article
    5. A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa. Wang K, et al. Mol Psychiatry, 2011 Sep. PMID 21079607

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lysine acetyltransferase 14 mediates TGF-beta-induced fibrosis in ovarian endometrioma via co-operation with serum response factor.
      Title: Lysine acetyltransferase 14 mediates TGF-β-induced fibrosis in ovarian endometrioma via co-operation with serum response factor.
    2. Actin binds directly to the hATAC subunit KAT14, and modulates its histone acetyl transferase activity in vitro and in cells.
      Title: Nuclear actin interactome analysis links actin to KAT14 histone acetyl transferase and mRNA splicing.
    3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.
    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

    EBI GWAS Catalog

    Description
    A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC15388

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables LIM domain binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables histone acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cell division IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell division ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of embryonic development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of tubulin deacetylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of tubulin deacetylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of ATAC complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ATAC complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitotic spindle NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cysteine-rich protein 2-binding protein
    Names
    ADA2A-containing complex subunit 2
    ATAC component 2 homolog
    CRP2 binding partner
    CRP2 binding protein
    CSRP2-binding protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001384192.3 → NP_001371121.2  cysteine-rich protein 2-binding protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. This variant contains a uORF with the complete coding region for the PET117 protein.
      Source sequence(s)
      AL050321, KF459584
      Consensus CDS
      CCDS13133.1
      UniProtKB/Swiss-Prot
      A2A2I5, Q96GW6, Q96IH3, Q9H8E8, Q9HBF0, Q9UIY5
      UniProtKB/TrEMBL
      A0A7I2V574
      Related
      ENSP00000366909.3, ENST00000377681.8
      Conserved Domains (1) summary
      pfam00583
      Location:672 → 751
      Acetyltransf_1; Acetyltransferase (GNAT) family

    2. NM_001392069.1 → NP_001378998.1  cysteine-rich protein 2-binding protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      Consensus CDS
      CCDS13133.1
      UniProtKB/Swiss-Prot
      A2A2I5, Q96GW6, Q96IH3, Q9H8E8, Q9HBF0, Q9UIY5
      UniProtKB/TrEMBL
      A0A7I2V574
      Related
      ENSP00000392318.2, ENST00000435364.8
      Conserved Domains (1) summary
      pfam00583
      Location:672 → 751
      Acetyltransf_1; Acetyltransferase (GNAT) family

    3. NM_001392070.1 → NP_001378999.1  cysteine-rich protein 2-binding protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      Consensus CDS
      CCDS13133.1
      UniProtKB/Swiss-Prot
      A2A2I5, Q96GW6, Q96IH3, Q9H8E8, Q9HBF0, Q9UIY5
      UniProtKB/TrEMBL
      A0A7I2V574
      Related
      ENSP00000504050.1, ENST00000677266.1
      Conserved Domains (1) summary
      pfam00583
      Location:672 → 751
      Acetyltransf_1; Acetyltransferase (GNAT) family

    4. NM_001392071.1 → NP_001379000.1  cysteine-rich protein 2-binding protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      Consensus CDS
      CCDS13133.1
      UniProtKB/Swiss-Prot
      A2A2I5, Q96GW6, Q96IH3, Q9H8E8, Q9HBF0, Q9UIY5
      UniProtKB/TrEMBL
      A0A7I2V574
      Related
      ENSP00000503109.1, ENST00000677174.1
      Conserved Domains (1) summary
      pfam00583
      Location:672 → 751
      Acetyltransf_1; Acetyltransferase (GNAT) family

    5. NM_001392072.1 → NP_001379001.1  cysteine-rich protein 2-binding protein isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      Consensus CDS
      CCDS13133.1
      UniProtKB/Swiss-Prot
      A2A2I5, Q96GW6, Q96IH3, Q9H8E8, Q9HBF0, Q9UIY5
      UniProtKB/TrEMBL
      A0A7I2V574
      Conserved Domains (1) summary
      pfam00583
      Location:672 → 751
      Acetyltransf_1; Acetyltransferase (GNAT) family

    6. NM_001392073.1 → NP_001379002.1  cysteine-rich protein 2-binding protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      Consensus CDS
      CCDS93011.1
      UniProtKB/TrEMBL
      A0A075B6H4, A0A7I2V574
      Related
      ENSP00000508684.1, ENST00000688188.1
      Conserved Domains (1) summary
      pfam00583
      Location:671 → 750
      Acetyltransf_1; Acetyltransferase (GNAT) family

    7. NM_001392074.1 → NP_001379003.1  cysteine-rich protein 2-binding protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      Consensus CDS
      CCDS93011.1
      UniProtKB/TrEMBL
      A0A075B6H4, A0A7I2V574
      Related
      ENSP00000504748.1, ENST00000677610.1
      Conserved Domains (1) summary
      pfam00583
      Location:671 → 750
      Acetyltransf_1; Acetyltransferase (GNAT) family

    8. NM_001392075.1 → NP_001379004.1  cysteine-rich protein 2-binding protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      Consensus CDS
      CCDS93011.1
      UniProtKB/TrEMBL
      A0A075B6H4, A0A7I2V574
      Conserved Domains (1) summary
      pfam00583
      Location:671 → 750
      Acetyltransf_1; Acetyltransferase (GNAT) family

    9. NM_001392076.1 → NP_001379005.1  cysteine-rich protein 2-binding protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      Consensus CDS
      CCDS93011.1
      UniProtKB/TrEMBL
      A0A075B6H4, A0A7I2V574
      Conserved Domains (1) summary
      pfam00583
      Location:671 → 750
      Acetyltransf_1; Acetyltransferase (GNAT) family

    10. NM_001392077.1 → NP_001379006.1  cysteine-rich protein 2-binding protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      Consensus CDS
      CCDS93011.1
      UniProtKB/TrEMBL
      A0A075B6H4, A0A7I2V574
      Conserved Domains (1) summary
      pfam00583
      Location:671 → 750
      Acetyltransf_1; Acetyltransferase (GNAT) family

    11. NM_001392078.1 → NP_001379007.1  cysteine-rich protein 2-binding protein isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      Consensus CDS
      CCDS93011.1
      UniProtKB/TrEMBL
      A0A075B6H4, A0A7I2V574
      Conserved Domains (1) summary
      pfam00583
      Location:671 → 750
      Acetyltransf_1; Acetyltransferase (GNAT) family

    12. NM_001392079.1 → NP_001379008.1  cysteine-rich protein 2-binding protein isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      UniProtKB/TrEMBL
      A0A7I2V574
      Conserved Domains (1) summary
      pfam00583
      Location:650 → 729
      Acetyltransf_1; Acetyltransferase (GNAT) family

    13. NM_001392080.1 → NP_001379009.1  cysteine-rich protein 2-binding protein isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      UniProtKB/TrEMBL
      A0A7I2V574
      Conserved Domains (1) summary
      pfam00583
      Location:649 → 728
      Acetyltransf_1; Acetyltransferase (GNAT) family

    14. NM_001392081.1 → NP_001379010.1  cysteine-rich protein 2-binding protein isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      UniProtKB/TrEMBL
      A0A7I2V574
      Conserved Domains (1) summary
      pfam00583
      Location:643 → 722
      Acetyltransf_1; Acetyltransferase (GNAT) family

    15. NM_020536.7 → NP_065397.4  cysteine-rich protein 2-binding protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. This variant contains a uORF which represents a portion of the coding region for the PET117 protein.
      Source sequence(s)
      AL050321, KF459584
      Consensus CDS
      CCDS13133.1
      UniProtKB/Swiss-Prot
      A2A2I5, Q96GW6, Q96IH3, Q9H8E8, Q9HBF0, Q9UIY5
      UniProtKB/TrEMBL
      A0A7I2V574
      Related
      ENSP00000503493.1, ENST00000676935.1
      Conserved Domains (1) summary
      pfam00583
      Location:672 → 751
      Acetyltransf_1; Acetyltransferase (GNAT) family

    RNA

    1. NR_028402.4 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL050321, KF459584
      Related
      ENST00000489634.2

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      18137153..18188035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      18188023..18238897
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_177926.1: Suppressed sequence

      Description
      NM_177926.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H8E8.3 GenPept UniProtKB/Swiss-Prot:Q9H8E8

    Gene LinkOut

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

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