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

    Gene ID: 91523, updated on 10-Dec-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
    mouse all
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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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    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_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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