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] See more...

Aliases for PCED1B Gene

Aliases for PCED1B Gene

  • PC-Esterase Domain Containing 1B 2 3 5
  • Family With Sequence Similarity 113, Member B 2 3
  • PC-Esterase Domain-Containing Protein 1B 3 4
  • FAM113B 3 4
  • Protein FAM113B 4
  • MGC16044 2
  • PCED1B 5

External Ids for PCED1B Gene

Previous HGNC Symbols for PCED1B Gene

  • FAM113B

Previous GeneCards Identifiers for PCED1B Gene

  • GC12P047474

Summaries for PCED1B Gene

Entrez Gene Summary for PCED1B Gene

  • 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]

GeneCards Summary for PCED1B Gene

PCED1B (PC-Esterase Domain Containing 1B) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is PCED1A.

Additional gene information for PCED1B Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCED1B Gene

Genomics for PCED1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PCED1B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCED1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCED1B

Genomic Locations for PCED1B Gene

Genomic Locations for PCED1B Gene
chr12:47,079,603-47,236,663
(GRCh38/hg38)
Size:
157,061 bases
Orientation:
Plus strand
chr12:47,473,386-47,630,443
(GRCh37/hg19)
Size:
157,058 bases
Orientation:
Plus strand

Genomic View for PCED1B Gene

Genes around PCED1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCED1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCED1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCED1B Gene

Proteins for PCED1B Gene

  • Protein details for PCED1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HM7-PED1B_HUMAN
    Recommended name:
    PC-esterase domain-containing protein 1B
    Protein Accession:
    Q96HM7
    Secondary Accessions:
    • Q96B20

    Protein attributes for PCED1B Gene

    Size:
    432 amino acids
    Molecular mass:
    49727 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH16154.1; Type=Miscellaneous discrepancy; Note=Non-canonical splice intron-exon junction.; Evidence={ECO:0000305};

neXtProt entry for PCED1B Gene

Post-translational modifications for PCED1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PCED1B Gene

Domains & Families for PCED1B Gene

Gene Families for PCED1B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PCED1B Gene

ProtoNet:

Suggested Antigen Peptide Sequences for PCED1B Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM113B (F113B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96HM7

UniProtKB/Swiss-Prot:

PED1B_HUMAN :
  • Belongs to the PC-esterase family.
Family:
  • Belongs to the PC-esterase family.
genes like me logo Genes that share domains with PCED1B: view

Function for PCED1B Gene

Phenotypes From GWAS Catalog for PCED1B Gene

Gene Ontology (GO) - Molecular Function for PCED1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with PCED1B: view

Phenotypes for PCED1B Gene

genes like me logo Genes that share phenotypes with PCED1B: view

Animal Model Products

CRISPR Products

miRNA for PCED1B Gene

miRTarBase miRNAs that target PCED1B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCED1B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCED1B Gene

Localization for PCED1B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCED1B gene
Compartment Confidence
cytoskeleton 1
nucleus 1
cytosol 1
golgi apparatus 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PCED1B Gene

Pathways & Interactions for PCED1B Gene

PathCards logo

SuperPathways for PCED1B Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCED1B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PCED1B Gene

Drugs & Compounds for PCED1B Gene

No Compound Related Data Available

Transcripts for PCED1B Gene

mRNA/cDNA for PCED1B Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCED1B

Alternative Splicing Database (ASD) splice patterns (SP) for PCED1B Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c · 3d
SP1: -
SP2:
SP3: - -
SP4: - - -

Relevant External Links for PCED1B Gene

GeneLoc Exon Structure for
PCED1B

Expression for PCED1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCED1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCED1B Gene

This gene is overexpressed in Whole Blood (x6.1), Adrenal Gland (x5.0), and Spleen (x4.5).

Protein differential expression in normal tissues from HIPED for PCED1B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCED1B Gene



Protein tissue co-expression partners for PCED1B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCED1B

SOURCE GeneReport for Unigene cluster for PCED1B Gene:

Hs.560100
genes like me logo Genes that share expression patterns with PCED1B: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCED1B Gene

Orthologs for PCED1B Gene

This gene was present in the common ancestor of animals.

Orthologs for PCED1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PCED1B 30 31
  • 99.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PCED1B 30 31
  • 75.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PCED1B 30 31
  • 73.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pced1b 30
  • 69.96 (n)
Mouse
(Mus musculus)
Mammalia Pced1b 30 17 31
  • 68.92 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 57 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487404 30
  • 58.27 (n)
Str.9354 30
Zebrafish
(Danio rerio)
Actinopterygii fam113 31
  • 38 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea D2030.8 31
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8488 31
  • 22 (a)
OneToMany
Species where no ortholog for PCED1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PCED1B Gene

ENSEMBL:
Gene Tree for PCED1B (if available)
TreeFam:
Gene Tree for PCED1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCED1B: view image

Paralogs for PCED1B Gene

Paralogs for PCED1B Gene

(2) SIMAP similar genes for PCED1B Gene using alignment to 5 proteins:

  • PED1B_HUMAN
  • F8VRF7_HUMAN
  • F8VUD2_HUMAN
  • F8VUZ9_HUMAN
  • F8VYL8_HUMAN
genes like me logo Genes that share paralogs with PCED1B: view

Variants for PCED1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCED1B Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs2543737 - p.Pro429Ala

Additional dbSNP identifiers (rs#s) for PCED1B Gene

Structural Variations from Database of Genomic Variants (DGV) for PCED1B Gene

Variant ID Type Subtype PubMed ID
esv2421679 CNV duplication 20811451
esv2505673 CNV insertion 19546169
esv2751100 CNV loss 17911159
esv3580259 CNV loss 25503493
esv3892198 CNV gain 25118596
nsv477671 CNV novel sequence insertion 20440878
nsv558784 CNV gain 21841781
nsv832399 CNV gain 17160897

Variation tolerance for PCED1B Gene

Residual Variation Intolerance Score: 17.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCED1B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCED1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCED1B Gene

Disorders for PCED1B Gene

No disorders were found for PCED1B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCED1B Gene

Publications for PCED1B Gene

  1. Novel eukaryotic enzymes modifying cell-surface biopolymers. (PMID: 20056006) Anantharaman V … Aravind L (Biology direct 2010) 2 3
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3
  5. An integrative method for scoring candidate genes from association studies: application to warfarin dosing. (PMID: 21044367) Tatonetti NP … Altman RB (BMC bioinformatics 2010) 3

Products for PCED1B Gene

Sources for PCED1B Gene