Aliases for PERCC1 Gene

Aliases for PERCC1 Gene

  • Proline And Glutamate Rich With Coiled Coil 1 2 3
  • Proline And Glutamage-Rich Protein With A Coiled Coil Domain 3 4
  • Protein PERCC1 3 4
  • Uncharacterized LOC105371045 5
  • Protein LOC105371045 3
  • AL032819.3 5
  • DIAR11 3
  • Gs104 3
  • ICR 3

External Ids for PERCC1 Gene

Summaries for PERCC1 Gene

GeneCards Summary for PERCC1 Gene

PERCC1 (Proline And Glutamate Rich With Coiled Coil 1) is a Protein Coding gene. Diseases associated with PERCC1 include Diarrhea 11, Malabsorptive, Congenital and Hepatocellular Carcinoma.

UniProtKB/Swiss-Prot Summary for PERCC1 Gene

  • Plays a critical role in intestinal function (PubMed:31217582). Acts by promoting the development of enteroendocrine cells (EECs) of the gastrointestinal tract and pancreas (By similarity). It is thereby required for normal enteroendocrine peptide hormone secretion (By similarity).

Additional gene information for PERCC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PERCC1 Gene

Genomics for PERCC1 Gene

GeneHancer (GH) Regulatory Elements for PERCC1 Gene

Promoters and enhancers for PERCC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J001430 Enhancer 1 ENCODE CraniofacialAtlas 500.7 +0.3 291 1.2 CTCF ZIC2 RFX1 ZBTB25 ZBTB7A SKI TEAD1 TBX3 PCBP1 MYC LOC105371044 PERCC1 CCDC154 IFT140 ENSG00000262528 WDR90 CRAMP1 ENSG00000260646 LMF1 LINC02867
GH16J001426 Enhancer 0.9 ENCODE CraniofacialAtlas 500.7 -1.7 -1709 0.4 CTCF TCF12 GABPA REST MYC RAD21 PCBP1 SRSF1 SMC3 YY1 LOC105371044 PERCC1 C16orf91
GH16J001432 Promoter/Enhancer 0.7 Ensembl CraniofacialAtlas 0.7 +2.8 2791 1.4 ZNF513 UBTF CCDC154 PERCC1 NONHSAG018255.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PERCC1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PERCC1 Gene

Genomic Locations for PERCC1 Gene
chr16:1,430,309-1,433,421
(GRCh38/hg38)
Size:
3,113 bases
Orientation:
Plus strand

Genomic View for PERCC1 Gene

Genes around PERCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PERCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PERCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PERCC1 Gene

Proteins for PERCC1 Gene

  • Protein details for PERCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0A1W2PR82-PERC1_HUMAN
    Recommended name:
    Protein PERCC1
    Protein Accession:
    A0A1W2PR82
    Secondary Accessions:
    • Q96RY9

    Protein attributes for PERCC1 Gene

    Size:
    267 amino acids
    Molecular mass:
    29212 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK61281.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for PERCC1 Gene

Post-translational modifications for PERCC1 Gene

No Post-translational modifications

Other Protein References for PERCC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PERCC1 Gene

Domains & Families for PERCC1 Gene

Gene Families for PERCC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PERCC1 Gene

ProtoNet:
genes like me logo Genes that share domains with PERCC1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PERCC1 Gene

Function for PERCC1 Gene

Molecular function for PERCC1 Gene

UniProtKB/Swiss-Prot Function:
Plays a critical role in intestinal function (PubMed:31217582). Acts by promoting the development of enteroendocrine cells (EECs) of the gastrointestinal tract and pancreas (By similarity). It is thereby required for normal enteroendocrine peptide hormone secretion (By similarity).

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PERCC1 Gene

Localization for PERCC1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for PERCC1 Gene

Pathways & Interactions for PERCC1 Gene

PathCards logo

SuperPathways for PERCC1 Gene

No Data Available

Interacting Proteins for PERCC1 Gene

;

Gene Ontology (GO) - Biological Process for PERCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035883 enteroendocrine cell differentiation ISS --
GO:0048546 digestive tract morphogenesis ISS --
genes like me logo Genes that share ontologies with PERCC1: view

No data available for Pathways by source and SIGNOR curated interactions for PERCC1 Gene

Drugs & Compounds for PERCC1 Gene

No Compound Related Data Available

Transcripts for PERCC1 Gene

mRNA/cDNA for PERCC1 Gene

1 REFSEQ mRNAs :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for PERCC1 Gene

No ASD Table

Relevant External Links for PERCC1 Gene

GeneLoc Exon Structure for
PERCC1

Expression for PERCC1 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PERCC1 Gene

Orthologs for PERCC1 Gene

Evolution for PERCC1 Gene

ENSEMBL:
Gene Tree for PERCC1 (if available)
TreeFam:
Gene Tree for PERCC1 (if available)

No data available for Orthologs for PERCC1 Gene

Paralogs for PERCC1 Gene

No data available for Paralogs for PERCC1 Gene

Variants for PERCC1 Gene

Additional dbSNP identifiers (rs#s) for PERCC1 Gene

Additional Variant Information for PERCC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PERCC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for PERCC1 Gene

Disorders for PERCC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PERCC1 Gene - From: LncRNADisease, OMIM, and ClinVar

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PERC1_HUMAN
  • Note=Diarrhea of infancy syndrome (IDIS). A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life (PubMed:31217582). The disease is caused by mutations affecting the gene represented in this entry (PubMed:31217582). {ECO:0000269 PubMed:31217582}.
genes like me logo Genes that share disorders with PERCC1: view

No data available for Genatlas and External Links for PERCC1 Gene

Publications for PERCC1 Gene

  1. Noncoding deletions reveal a gene that is critical for intestinal function. (PMID: 31217582) Oz-Levi D … Pennacchio LA (Nature 2019) 2 3 4 54
  2. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 4 54
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PMID: 11157797) Daniels RJ … Higgs DR (Human molecular genetics 2001) 4 54

No data available for Mastermind for PERCC1 Gene

Products for PERCC1 Gene

Sources for PERCC1 Gene