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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
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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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