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

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: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1431078..1434441)
RS_2023_10	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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.
Title: Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Diarrhea 11, malabsorptive, congenital MedGen: C5231449 OMIM: 618662 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

General gene information

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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

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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.