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PCED1B PC-esterase domain containing 1B [ Homo sapiens (human) ]

Gene ID: 91523, updated on 27-Nov-2024

Summary

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Official Symbol
PCED1Bprovided by HGNC
Official Full Name
PC-esterase domain containing 1Bprovided by HGNC
Primary source
HGNC:HGNC:28255
See related
Ensembl:ENSG00000179715 AllianceGenome:HGNC:28255
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
FAM113B
Summary
This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Expression
Broad expression in lymph node (RPKM 6.5), adrenal (RPKM 4.1) and 19 other tissues See more
Orthologs
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Genomic context

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See PCED1B in Genome Data Viewer
Location:
12q13.11
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (47079621..47236660)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (47040396..47197436)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (47473404..47630443)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902925 Neighboring gene uncharacterized LOC107984466 Neighboring gene adhesion molecule with Ig like domain 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28818 Neighboring gene IFITM3P pseudogene 6 Neighboring gene microRNA 4698 Neighboring gene PCED1B antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:47614425-47614925 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:47615221-47615952 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:47615953-47616683 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:47616684-47617414 Neighboring gene uncharacterized LOC105369746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6254 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:47664579-47665778 Neighboring gene Sharpr-MPRA regulatory region 12453 Neighboring gene NANOG hESC enhancer GRCh37_chr12:47689897-47690456 Neighboring gene uncharacterized LOC105369747 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:47700100-47701299

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. An integrative method for scoring candidate genes from association studies: application to warfarin dosing. Tatonetti NP, et al. BMC Bioinformatics, 2010 Oct 28. PMID 21044367, 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. MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. Liu Y, et al. Neuron, 2024 Jun 19. PMID 38697112
  4. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article
  5. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: An integrative method for scoring candidate genes from association studies: application to warfarin dosing.
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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC16044

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 1B
Names
family with sequence similarity 113, member B

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_001281429.2 → NP_001268358.1  PC-esterase domain-containing protein 1B

    See identical proteins and their annotated locations for NP_001268358.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC072670, CR985281
    Consensus CDS
    CCDS8752.1
    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7
    Related
    ENSP00000396040.1, ENST00000432328.2
    Conserved Domains (1) summary
    cl01053
    Location:17 → 249
    SGNH_hydrolase; or GDSL_hydrolase, is 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 closely resembles the typical ...

  2. NM_138371.3 → NP_612380.1  PC-esterase domain-containing protein 1B

    See identical proteins and their annotated locations for NP_612380.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC072670, CR985281
    Consensus CDS
    CCDS8752.1
    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7
    Related
    ENSP00000446688.1, ENST00000546455.6
    Conserved Domains (1) summary
    cl01053
    Location:17 → 249
    SGNH_hydrolase; or GDSL_hydrolase, is 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 closely resembles the typical ...

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    47079621..47236660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047429873.1 → XP_047285829.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  2. XM_047429870.1 → XP_047285826.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  3. XM_017020207.2 → XP_016875696.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7
    Conserved Domains (1) summary
    cl01053
    Location:17 → 249
    SGNH_hydrolase; or GDSL_hydrolase, is 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 closely resembles the typical ...

  4. XM_047429868.1 → XP_047285824.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  5. XM_047429872.1 → XP_047285828.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  6. XM_011538978.3 → XP_011537280.1  PC-esterase domain-containing protein 1B isoform X1

    See identical proteins and their annotated locations for XP_011537280.1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7
    Conserved Domains (1) summary
    cl01053
    Location:17 → 249
    SGNH_hydrolase; or GDSL_hydrolase, is 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 closely resembles the typical ...

  7. XM_047429869.1 → XP_047285825.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  8. XM_047429874.1 → XP_047285830.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  9. XM_017020209.2 → XP_016875698.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7
    Conserved Domains (1) summary
    cl01053
    Location:17 → 249
    SGNH_hydrolase; or GDSL_hydrolase, is 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 closely resembles the typical ...

  10. XM_047429875.1 → XP_047285831.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  11. XM_005269224.6 → XP_005269281.1  PC-esterase domain-containing protein 1B isoform X1

    See identical proteins and their annotated locations for XP_005269281.1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7
    Conserved Domains (1) summary
    cl01053
    Location:17 → 249
    SGNH_hydrolase; or GDSL_hydrolase, is 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 closely resembles the typical ...

  12. XM_047429876.1 → XP_047285832.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  13. XM_047429871.1 → XP_047285827.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  14. XM_017020216.2 → XP_016875705.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7
    Conserved Domains (1) summary
    cl01053
    Location:17 → 249
    SGNH_hydrolase; or GDSL_hydrolase, is 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 closely resembles the typical ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    47040396..47197436
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373815.1 → XP_054229790.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  2. XM_054373812.1 → XP_054229787.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  3. XM_054373806.1 → XP_054229781.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  4. XM_054373810.1 → XP_054229785.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  5. XM_054373814.1 → XP_054229789.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  6. XM_054373807.1 → XP_054229782.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  7. XM_054373811.1 → XP_054229786.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  8. XM_054373816.1 → XP_054229791.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  9. XM_054373808.1 → XP_054229783.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  10. XM_054373817.1 → XP_054229792.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  11. XM_054373809.1 → XP_054229784.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  12. XM_054373818.1 → XP_054229793.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7

  13. XM_054373813.1 → XP_054229788.1  PC-esterase domain-containing protein 1B isoform X1

    UniProtKB/Swiss-Prot
    Q96B20, Q96HM7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96HM7.1 GenPept UniProtKB/Swiss-Prot:Q96HM7

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