GFER growth factor, augmenter of liver regeneration [Homo sapiens (human)] - Gene

Summary

Official Symbol: GFERprovided by HGNC
Official Full Name: growth factor, augmenter of liver regenerationprovided by HGNC
Primary source: HGNC:HGNC:4236
See related: Ensembl:ENSG00000127554 MIM:600924; AllianceGenome:HGNC:4236
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: ALR; HPO; HSS; ERV1; HPO1; HPO2; HERV1; MMCHD; MPMCD
Summary: The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in small intestine (RPKM 7.8), duodenum (RPKM 7.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1984193..1987749)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (2004138..2007694)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (2034194..2037750)

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?

TMPRSS11D/ALR-mediated ER stress regulates the function of myeloid-derived suppressor cells in the cervical cancer microenvironment.
Title: TMPRSS11D/ALR-mediated ER stress regulates the function of myeloid-derived suppressor cells in the cervical cancer microenvironment.
Polymorphism rs1046495 of the GFER Gene as a New Genetic Marker of Preposition to Type 2 Diabetes Mellitus.
Title: Polymorphism rs1046495 of the GFER Gene as a New Genetic Marker of Preposition to Type 2 Diabetes Mellitus.
Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8.
Title: Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8.
Hepatic Deficiency of Augmenter of Liver Regeneration Predisposes to Nonalcoholic Steatohepatitis and Fibrosis.
Title: Hepatic Deficiency of Augmenter of Liver Regeneration Predisposes to Nonalcoholic Steatohepatitis and Fibrosis.
Downregulation of WW domain-containing oxidoreductase leads to tamoxifen-resistance by the inactivation of Hippo signaling.
Title: Downregulation of WW domain-containing oxidoreductase leads to tamoxifen-resistance by the inactivation of Hippo signaling.
Augmenter of liver regeneration (ALR) gene transfection alleviates mitochondrial injury, through inhibiting fission and promoting fusion of the mitochondrial inner membrane, both of which contribute to reduction of HK-2 cell apoptosis. Additionally, fission processes are mediated by promoting tubular cell survival through activating the mTOR/4E-BP1 signaling pathway.
Title: Augmenter of Liver Regeneration Alleviates Renal Hypoxia-Reoxygenation Injury by Regulating Mitochondrial Dynamics in Renal Tubular Epithelial Cells.
High levels of cytosolic short form of ALR reduced CYP7A1 mRNA expression and bile acids levels attributed to STAT3 activation.
Title: Bile acid-induced apoptosis and bile acid synthesis are reduced by over-expression of Augmenter of Liver Regeneration (ALR) in a STAT3-dependent mechanism.
This study finds a previously unrecognized role of RASSF1A in the regulation of CTGF and CYR61 through mediation of Hippo pathway in UBC and supports the significance of this link as a potential therapeutic target for UBC.
Title: RASSF1A-Hippo pathway link in patients with urothelial carcinoma of bladder: plausible therapeutic target.
Results found that TGF-beta induced miRNA-181a, which in turn induced liver fibrosis, at least in part, by inhibiting ALR. ALR inhibited TGF-beta action by decreasing the expression of TGFbeta-RII, thereby inhibiting miRNA-181a expression and fibrosis markers.
Title: TGF-β induces liver fibrosis via miRNA-181a-mediated down regulation of augmenter of liver regeneration in hepatic stellate cells.
Knockdown of augmenter of liver regeneration (ALR) in human kidney HK-2 cells promotes apoptosis of renal tubular cells and aggravates mitochondrial injury. The production of reactive oxygen species is increased and ATP levels are decreased. The mitochondrial DNA copy number and membrane potential are decreased. Critical transcriptional regulators of mitochondrial biogenesis are depleted in the siRNA/ALR cells.
Title: Augmenter of liver regeneration promotes mitochondrial biogenesis in renal ischemia-reperfusion injury.

Submit: New GeneRIF Correction See all GeneRIFs (85)

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

Associated conditions

Description	Tests
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MedGen: C2751320 OMIM: 613076 GeneReviews: Not available	Compare labs

Variation

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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

RH98312 (e-PCR)
- UniSTS:88585

RH80826 (e-PCR)
- UniSTS:90416

RH70597 (e-PCR)
- UniSTS:55136

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables flavin adenine dinucleotide binding	IBA Inferred from Biological aspect of Ancestor more info
enables flavin adenine dinucleotide binding	IDA Inferred from Direct Assay more info	PubMed
enables flavin-dependent sulfhydryl oxidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-disulfide reductase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to actinomycin D	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in liver development	IBA Inferred from Biological aspect of Ancestor more info
involved_in liver regeneration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of natural killer cell mediated cytotoxicity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in mitochondrial intermembrane space	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: FAD-linked sulfhydryl oxidase ALR

Names: ERV1 homolog; erv1-like growth factor; hepatic regenerative stimulation substance; hepatopoietin protein

NP_005253.3

EC 1.8.3.2

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.