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    PCED1A PC-esterase domain containing 1A [ Homo sapiens (human) ]

    Gene ID: 64773, updated on 17-Sep-2024

    Summary

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    Official Symbol
    PCED1Aprovided by HGNC
    Official Full Name
    PC-esterase domain containing 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:16212
    See related
    Ensembl:ENSG00000132635 AllianceGenome:HGNC:16212
    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
    FAM113A; C20orf81; bA12M19.1
    Summary
    The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]
    Expression
    Ubiquitous expression in spleen (RPKM 18.9), thyroid (RPKM 14.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PCED1A in Genome Data Viewer
    Location:
    20p13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (2835314..2841151, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (2865988..2871825, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2815960..2821797, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2778855-2779842 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2779843-2780830 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2780831-2781816 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12607 Neighboring gene carboxypeptidase X, M14 family member 1 Neighboring gene CRISPRi-validated cis-regulatory element chr20.196 Neighboring gene chromosome 20 open reading frame 141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2812614-2813114 Neighboring gene transmembrane protein 239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2820603-2821134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:2821668-2822199 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:2840338-2840838 Neighboring gene VPS16 core subunit of CORVET and HOPS complexes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2852243-2852874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2852875-2853504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2853505-2854136 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:2854137-2854766 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60029 Neighboring gene protein tyrosine phosphatase receptor type A Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:2903375-2903875 Neighboring gene Sharpr-MPRA regulatory region 1396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17473 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:3007535-3008734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12612 Neighboring gene gonadotropin releasing hormone 2

    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 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. Immunomic analysis of human sarcoma. Lee SY, et al. Proc Natl Acad Sci U S A, 2003 Mar 4. PMID 12601173, Free PMC Article
    2. Novel eukaryotic enzymes modifying cell-surface biopolymers. Anantharaman V, et al. Biol Direct, 2010 Jan 7. PMID 20056006, Free PMC Article
    3. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    4. Protein interactome reveals converging molecular pathways among autism disorders. Sakai Y, et al. Sci Transl Med, 2011 Jun 8. PMID 21653829, Free PMC Article
    5. Large-scale mapping of human protein-protein interactions by mass spectrometry. Ewing RM, et al. Mol Syst Biol, 2007. PMID 17353931, Free PMC Article

    See all (13) 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22376, FLJ42927, DKFZp547L054

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    PC-esterase domain-containing protein 1A
    Names
    family with sequence similarity 113, member A
    sarcoma antigen NY-SAR-23

    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_001271168.2 → NP_001258097.1  PC-esterase domain-containing protein 1A isoform 2

      See identical proteins and their annotated locations for NP_001258097.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AA769290, AK026029, AK056353
      Consensus CDS
      CCDS59442.1
      Related
      ENSP00000349334.3, ENST00000356872.7
      Conserved Domains (1) summary
      cd01842
      Location:34 → 215
      SGNH_hydrolase_like_5; SGNH_hydrolase subfamily. SGNH hydrolases are a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site ...

    2. NM_022760.6 → NP_073597.2  PC-esterase domain-containing protein 1A isoform 1

      See identical proteins and their annotated locations for NP_073597.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL161656
      Consensus CDS
      CCDS13035.1
      UniProtKB/Swiss-Prot
      Q5JUA5, Q5JUA6, Q6PK19, Q86WF5, Q96CG7, Q9H1Q6, Q9H1Q7, Q9H6D1
      Related
      ENSP00000353868.2, ENST00000360652.7
      Conserved Domains (1) summary
      cd01842
      Location:34 → 266
      SGNH_hydrolase_like_5; SGNH_hydrolase subfamily. SGNH hydrolases are a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site ...

    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
      2835314..2841151 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260804.3 → XP_005260861.1  PC-esterase domain-containing protein 1A isoform X1

      See identical proteins and their annotated locations for XP_005260861.1

      UniProtKB/Swiss-Prot
      Q5JUA5, Q5JUA6, Q6PK19, Q86WF5, Q96CG7, Q9H1Q6, Q9H1Q7, Q9H6D1
      Conserved Domains (1) summary
      cd01842
      Location:34 → 266
      SGNH_hydrolase_like_5; SGNH_hydrolase subfamily. SGNH hydrolases are a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site ...

    2. XM_005260805.4 → XP_005260862.1  PC-esterase domain-containing protein 1A isoform X2

      See identical proteins and their annotated locations for XP_005260862.1

      Conserved Domains (1) summary
      cd01842
      Location:34 → 215
      SGNH_hydrolase_like_5; SGNH_hydrolase subfamily. SGNH hydrolases are a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site ...

    3. XM_005260806.5 → XP_005260863.1  PC-esterase domain-containing protein 1A isoform X3

      Conserved Domains (1) summary
      cd01842
      Location:34 → 266
      SGNH_hydrolase_like_5; SGNH_hydrolase subfamily. SGNH hydrolases are a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site ...

    4. XM_047440380.1 → XP_047296336.1  PC-esterase domain-containing protein 1A isoform X2

    5. XM_047440381.1 → XP_047296337.1  PC-esterase domain-containing protein 1A isoform X3

    6. XM_047440379.1 → XP_047296335.1  PC-esterase domain-containing protein 1A isoform X1

      UniProtKB/Swiss-Prot
      Q5JUA5, Q5JUA6, Q6PK19, Q86WF5, Q96CG7, Q9H1Q6, Q9H1Q7, Q9H6D1

    7. XM_047440382.1 → XP_047296338.1  PC-esterase domain-containing protein 1A isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      2865988..2871825 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323861.1 → XP_054179836.1  PC-esterase domain-containing protein 1A isoform X1

      UniProtKB/Swiss-Prot
      Q5JUA5, Q5JUA6, Q6PK19, Q86WF5, Q96CG7, Q9H1Q6, Q9H1Q7, Q9H6D1

    2. XM_054323860.1 → XP_054179835.1  PC-esterase domain-containing protein 1A isoform X1

      UniProtKB/Swiss-Prot
      Q5JUA5, Q5JUA6, Q6PK19, Q86WF5, Q96CG7, Q9H1Q6, Q9H1Q7, Q9H6D1

    3. XM_054323862.1 → XP_054179837.1  PC-esterase domain-containing protein 1A isoform X2

    4. XM_054323863.1 → XP_054179838.1  PC-esterase domain-containing protein 1A isoform X3

    5. XM_054323864.1 → XP_054179839.1  PC-esterase domain-containing protein 1A isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1Q7.1 GenPept UniProtKB/Swiss-Prot:Q9H1Q7

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