REG1A regenerating family member 1 alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: REG1Aprovided by HGNC
Official Full Name: regenerating family member 1 alphaprovided by HGNC
Primary source: HGNC:HGNC:9951
See related: Ensembl:ENSG00000115386 MIM:167770; AllianceGenome:HGNC:9951
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: P19; PSP; PTP; REG; ICRF; PSPS; PSPS1
Summary: This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008]
Expression: Biased expression in pancreas (RPKM 5037.4), duodenum (RPKM 2788.3) and 2 other tissues See more
Orthologs: all
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Genomic context

Location:: 2p12

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (79120488..79123409)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (79120807..79123727)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (79347614..79350535)

Chromosome 2 - NC_000002.12 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?

REG1A protects retinal photoreceptors from blue light damage.
Title: REG1A protects retinal photoreceptors from blue light damage.
The role of pancreatic stone protein as a prognostic factor for COVID-19 patients.
Title: The role of pancreatic stone protein as a prognostic factor for COVID-19 patients.
Protective and anti-inflammatory role of REG1A in inflammatory bowel disease induced by JAK/STAT3 signaling axis.
Title: Protective and anti-inflammatory role of REG1A in inflammatory bowel disease induced by JAK/STAT3 signaling axis.
Pancreatic stone protein - sepsis and the riddles of the exocrine pancreas.
Title: Pancreatic stone protein - sepsis and the riddles of the exocrine pancreas.
Carboxypeptidase A1 and regenerating islet-derived 1alpha as new markers for pancreatic acinar cell carcinoma.
Title: Carboxypeptidase A1 and regenerating islet-derived 1α as new markers for pancreatic acinar cell carcinoma.
Association of Serum PSP/REG Ialpha with Renal Function in Type 2 Diabetes Mellitus.
Title: Association of Serum PSP/REG Iα with Renal Function in Type 2 Diabetes Mellitus.
Association of regenerating gene 1A single-nucleotide polymorphisms and nasopharyngeal carcinoma susceptibility in southern Chinese population.
Title: Association of regenerating gene 1A single-nucleotide polymorphisms and nasopharyngeal carcinoma susceptibility in southern Chinese population.
Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells.
Title: Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells.
TP53E10 but not TP53E3 cells exhibited aberrant transcriptional activity of regenerating family member 1-alpha (REG1A) and expression of REG1A, resulting in the acquisition of enhanced malignant potential. In conclusion, we demonstrated for the first time that TP53 genomic mutation into human colon cancer cells affects the malignant potential.
Title: TP53 Mutation by CRISPR System Enhances the Malignant Potential of Colon Cancer.
serum PSP/REG Ialpha levels could be a novel biomarker for assessment of renal function in pregnant women.
Title: Association of Serum PSP/REG Iα with Renal Function in Pregnant Women.

Submit: New GeneRIF Correction See all GeneRIFs (65)

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

EBI GWAS Catalog

Description
Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D2S2645 (e-PCR)
- UniSTS:27965

NoName (e-PCR)
- UniSTS:483930

RH78218 (e-PCR)
- UniSTS:28340

RH68977 (e-PCR)
- UniSTS:12796

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables growth factor activity	IDA Inferred from Direct Assay more info	PubMed
enables molecular function inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables oligosaccharide binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptidoglycan binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to peptide hormone	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: lithostathine-1-alpha

Names: REG-1-alpha; islet cells regeneration factor; islet of langerhans regenerating protein; pancreatic stone protein, secretory; pancreatic thread protein; protein-X; regenerating islet-derived protein 1-alpha; regenerating protein I alpha

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.