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PERCC1 proline and glutamate rich with coiled coil 1 [ Homo sapiens (human) ]

Gene ID: 105371045, updated on 26-Oct-2022

Summary

Official Symbol
PERCC1provided by HGNC
Official Full Name
proline and glutamate rich with coiled coil 1provided by HGNC
Primary source
HGNC:HGNC:52293
See related
Ensembl:ENSG00000284395 MIM:618656; AllianceGenome:HGNC:52293
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ICR; gs104; DIAR11
Summary
Predicted to be involved in digestive tract morphogenesis and enteroendocrine cell differentiation. Implicated in congenital diarrhea. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See PERCC1 in Genome Data Viewer
Location:
16p13.3
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1431078..1434441)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1445740..1449102)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1481079..1484442)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371044 Neighboring gene intestine-critical region regulatory element Neighboring gene coiled-coil domain containing 154 Neighboring gene chloride voltage-gated channel 7 Neighboring gene RPS3A pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

General gene information

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in digestive tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in enteroendocrine cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
protein PERCC1
Names
proline and glutamage-rich protein with a coiled coil domain
protein LOC105371045

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_001365310.2NP_001352239.1  protein PERCC1

    Status: VALIDATED

    Source sequence(s)
    AL032819
    Consensus CDS
    CCDS92081.1
    UniProtKB/Swiss-Prot
    Q96RY9
    Related
    ENSP00000492108.2, ENST00000640283.2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    1431078..1434441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    1445740..1449102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)