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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae)''', also known as '''GFER''', or '''Hepatopoietin''' is a [[protein]] which in humans is encoded by the ''GFER'' [[gene]]. This gene is also known as essential for respiration and vegatative growth, augmenter of liver regeneration, and growth factor of Erv1-like/Hepatic regenerative stimulation substance. <ref name="entrez">
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae)
| HGNCid = 4236
| Symbol = GFER
| AltSymbols =; ERV1; ALR; HERV1; HPO; HPO1; HPO2; HSS
| OMIM = 600924
| ECnumber = 
| Homologene = 55884
| MGIid = 107757
| GeneAtlas_image1 = PBB_GE_GFER_204659_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_GFER_204660_at_tn.png
| Function = {{GNF_GO|id=GO:0005515 |text = protein binding}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0005739 |text = mitochondrion}}
| Process = {{GNF_GO|id=GO:0007283 |text = spermatogenesis}} {{GNF_GO|id=GO:0008283 |text = cell proliferation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2671
    | Hs_Ensembl = ENSG00000127554
    | Hs_RefseqProtein = NP_005253
    | Hs_RefseqmRNA = NM_005262
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 16
    | Hs_GenLoc_start = 1974151
    | Hs_GenLoc_end = 1977747
    | Hs_Uniprot = P55789
    | Mm_EntrezGene = 11692
    | Mm_Ensembl = ENSMUSG00000040888
    | Mm_RefseqmRNA = NM_023040
    | Mm_RefseqProtein = NP_075527
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 17
    | Mm_GenLoc_start = 24420790
    | Mm_GenLoc_end = 24423753
    | Mm_Uniprot = Q8CIF8
  }}
}}
'''Growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae)''', also known as '''GFER''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GFER growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2671| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{cite web | title = Entrez Gene: GFER growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2671| access-date = }}
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: GFER growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2671| accessdate = }}</ref>
}}


==References==
</ref><ref name = "uniprot">
{{reflist|2}}
 
==Further reading==
{{Cite web|url=https://www.uniprot.org/uniprot/P30049|title= GFER - FAD-linked sulfhydryl oxidase ALR - Homo sapiens (Human) - GFER gene & protein|access-date=2018-08-21}}{{CC-notice|cc=by4 | url=https://www.uniprot.org/uniprot/P55789 | work = UniProt }}
 
</ref><ref name="uniprot0">
 
{{cite journal | vauthors =  | title = UniProt: the universal protein knowledgebase | journal = Nucleic Acids Research | volume = 45 | issue = D1 | pages = D158-D169 | date = January 2017 | pmid = 27899622 | pmc = 5210571 | doi = 10.1093/nar/gkw1099 }}</ref>
 
== Structure ==
The ''GFER'' gene is located on the [[Locus (genetics)|p arm]] of [[chromosome 16]] at position 13.3 and it spans 3,600 base pairs.<ref name = entrez /> The ''GFER'' gene produces a 15.4 kDa protein composed of 130 [[amino acids]].<ref name=COPaKB>
 
 
{{cite journal | vauthors = Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P | title = Integration of cardiac proteome biology and medicine by a specialized knowledgebase | journal = Circulation Research | volume = 113 | issue = 9 | pages = 1043–53 | date = October 2013 | pmid = 23965338 | pmc = 4076475 | doi = 10.1161/CIRCRESAHA.113.301151 }}
 
</ref><ref name="url_COPaKB">
 
{{cite web | url = https://amino.heartproteome.org/web/protein/H3BQQ4 | work = Cardiac Organellar Protein Atlas Knowledgebase (COPaKB) | title = GFER-Sulfhydryl oxidase }}
 
</ref> The structure of the protein is a [[homodimer]] which has been found to be fairly similar to the [[scERV1]] protein of yeast.<ref name = "hi1">{{cite journal | vauthors = Lisowsky T, Weinstat-Saslow DL, Barton N, Reeders ST, Schneider MC | title = A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast | journal = Genomics | volume = 29 | issue = 3 | pages = 690–7 | date = October 1995 | pmid = 8575761 | doi = 10.1006/geno.1995.9950 }}</ref>
 
== Genomics ==
 
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 human gene has three exons: the first encodes a 5' untranslated region and the first part of the protein; the second encodes the bulk of the protein; and the third the remainder.
 
== Molecular biology ==
 
Proteins of the ERV1/ALR family are encoded by all eukaryotes and cytoplasmic DNA viruses for which the sequence data are available. All possess a C-X-X-C motif within a ~100 amino acid domain
 
== Function ==
 
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 yeast scERV1 gene had been found to be essential for [[oxidative phosphorylation]], the maintenance of mitochondrial genomes, and the [[cell cycle|cell division cycle]]. The human gene is both the structural and functional homolog of the yeast scERV1 gene.<ref name="entrez" />
 
This protein interacts with [[Mia40]] during the import of intermembrane space proteins including the small Tim proteins Cox17 and Cox19 both of which have disulfide bonds.
 
== Clinical Significance==
 
Mutations in ''GFER'' has been shown to result in [[Myopathy|Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD)]]. MPMCHD is a disease characterized by progressive [[myopathy]] and partial combined respiratory-chain deficiency, congenital [[cataract]], [[sensorineural hearing loss]], and [[developmental delay]].
 
== Interactions ==
 
GFER has been shown to [[Protein-protein interaction|interact]] with [[COP9 constitutive photomorphogenic homolog subunit 5]]<ref name=pmid11709497>{{cite journal | vauthors = Lu C, Li Y, Zhao Y, Xing G, Tang F, Wang Q, Sun Y, Wei H, Yang X, Wu C, Chen J, Guan KL, Zhang C, Chen H, He F | title = Intracrine hepatopoietin potentiates AP-1 activity through JAB1 independent of MAPK pathway | journal = FASEB Journal | volume = 16 | issue = 1 | pages = 90–2 | date = January 2002 | pmid = 11709497 | doi = 10.1096/fj.01-0506fje }}</ref> and [[BNIPL]].<ref name=pmid12681488>{{cite journal | vauthors = Shen L, Hu J, Lu H, Wu M, Qin W, Wan D, Li YY, Gu J | title = The apoptosis-associated protein BNIPL interacts with two cell proliferation-related proteins, MIF and GFER | journal = FEBS Letters | volume = 540 | issue = 1-3 | pages = 86–90 | date = April 2003 | pmid = 12681488 | doi = 10.1016/S0014-5793(03)00229-1 }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Francavilla A, Hagiya M, Porter KA, Polimeno L, Ihara I, Starzl TE | title = Augmenter of liver regeneration: its place in the universe of hepatic growth factors | journal = Hepatology | volume = 20 | issue = 3 | pages = 747–57 | date = September 1994 | pmid = 8076931 | doi = 10.1002/hep.1840200328 }}
| citations =
* {{cite journal | vauthors = Gatzidou E, Kouraklis G, Theocharis S | title = Insights on augmenter of liver regeneration cloning and function | journal = World Journal of Gastroenterology | volume = 12 | issue = 31 | pages = 4951–8 | date = August 2006 | pmid = 16937489 | doi = 10.3748/wjg.v12.i31.4951 }}
*{{cite journal | author=Francavilla A, Hagiya M, Porter KA, ''et al.'' |title=Augmenter of liver regeneration: its place in the universe of hepatic growth factors. |journal=Hepatology |volume=20 |issue= 3 |pages= 747-57 |year= 1994 |pmid= 8076931 |doi= }}
* {{cite journal | vauthors = Lisowsky T | title = Dual function of a new nuclear gene for oxidative phosphorylation and vegetative growth in yeast | journal = Molecular & General Genetics | volume = 232 | issue = 1 | pages = 58–64 | date = March 1992 | pmid = 1552903 | doi = 10.1007/BF00299137 }}
*{{cite journal | author=Gatzidou E, Kouraklis G, Theocharis S |title=Insights on augmenter of liver regeneration cloning and function. |journal=World J. Gastroenterol. |volume=12 |issue= 31 |pages= 4951-8 |year= 2007 |pmid= 16937489 |doi= }}
* {{cite journal | vauthors = Renan MJ, Reeves BR | title = Chromosomal localization of human endogenous retroviral element ERV1 to 18q22----q23 by in situ hybridization | journal = Cytogenetics and Cell Genetics | volume = 44 | issue = 2-3 | pages = 167–70 | year = 1987 | pmid = 3568764 | doi = 10.1159/000132365 }}
*{{cite journal | author=Lisowsky T |title=Dual function of a new nuclear gene for oxidative phosphorylation and vegetative growth in yeast. |journal=Mol. Gen. Genet. |volume=232 |issue= 1 |pages= 58-64 |year= 1992 |pmid= 1552903 |doi= }}
* {{cite journal | vauthors = O'Brien SJ, Bonner TI, Cohen M, O'Connell C, Nash WG | title = Mapping of an endogenous retroviral sequence to human chromosome 18 | journal = Nature | volume = 303 | issue = 5912 | pages = 74–7 | year = 1983 | pmid = 6843662 | doi = 10.1038/303074a0 }}
*{{cite journal | author=Renan MJ, Reeves BR |title=Chromosomal localization of human endogenous retroviral element ERV1 to 18q22----q23 by in situ hybridization. |journal=Cytogenet. Cell Genet. |volume=44 |issue= 2-3 |pages= 167-70 |year= 1987 |pmid= 3568764 |doi= }}
* {{cite journal | vauthors = Giorda R, Hagiya M, Seki T, Shimonishi M, Sakai H, Michaelson J, Francavilla A, Starzl TE, Trucco M | title = Analysis of the structure and expression of the augmenter of liver regeneration (ALR) gene | journal = Molecular Medicine | volume = 2 | issue = 1 | pages = 97–108 | date = January 1996 | pmid = 8900538 | pmc = 2230030 | doi =  }}
*{{cite journal | author=O'Brien SJ, Bonner TI, Cohen M, ''et al.'' |title=Mapping of an endogenous retroviral sequence to human chromosome 18. |journal=Nature |volume=303 |issue= 5912 |pages= 74-7 |year= 1983 |pmid= 6843662 |doi=  }}
* {{cite journal | vauthors = Yang XM, Hu ZY, Xie L, Wu ZZ, Wu CT, He FC | title = [In vitro stimulation of HTC hepatoma cell growth by recombinant human augmenter of liver regeneration (ALR)] | journal = Sheng Li Xue Bao | volume = 49 | issue = 5 | pages = 557–61 | date = October 1997 | pmid = 9813496 | doi =  }}
*{{cite journal  | author=Lisowsky T, Weinstat-Saslow DL, Barton N, ''et al.'' |title=A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast. |journal=Genomics |volume=29 |issue= 3 |pages= 690-7 |year= 1996 |pmid= 8575761 |doi= 10.1006/geno.1995.9950 }}
* {{cite journal | vauthors = Wang G, Yang X, Zhang Y, Wang Q, Chen H, Wei H, Xing G, Xie L, Hu Z, Zhang C, Fang D, Wu C, He F | title = Identification and characterization of receptor for mammalian hepatopoietin that is homologous to yeast ERV1 | journal = The Journal of Biological Chemistry | volume = 274 | issue = 17 | pages = 11469–72 | date = April 1999 | pmid = 10206950 | doi = 10.1074/jbc.274.17.11469 }}
*{{cite journal | author=Giorda R, Hagiya M, Seki T, ''et al.'' |title=Analysis of the structure and expression of the augmenter of liver regeneration (ALR) gene. |journal=Mol. Med. |volume=2 |issue= 1 |pages= 97-108 |year= 1997 |pmid= 8900538 |doi=  }}
* {{cite journal | vauthors = Hofhaus G, Stein G, Polimeno L, Francavilla A, Lisowsky T | title = Highly divergent amino termini of the homologous human ALR and yeast scERV1 gene products define species specific differences in cellular localization | journal = European Journal of Cell Biology | volume = 78 | issue = 5 | pages = 349–56 | date = May 1999 | pmid = 10384986 | doi = 10.1016/S0171-9335(99)80069-7 }}
*{{cite journal | author=Yang XM, Hu ZY, Xie L, ''et al.'' |title=[In vitro stimulation of HTC hepatoma cell growth by recombinant human augmenter of liver regeneration (ALR)] |journal=Sheng li xue bao : [Acta physiologica Sinica] |volume=49 |issue= 5 |pages= 557-61 |year= 1998 |pmid= 9813496 |doi=  }}
* {{cite journal | vauthors = Li Y, Li M, Xing G, Hu Z, Wang Q, Dong C, Wei H, Fan G, Chen J, Yang X, Zhao S, Chen H, Guan K, Wu C, Zhang C, He F | title = Stimulation of the mitogen-activated protein kinase cascade and tyrosine phosphorylation of the epidermal growth factor receptor by hepatopoietin | journal = The Journal of Biological Chemistry | volume = 275 | issue = 48 | pages = 37443–7 | date = December 2000 | pmid = 10982794 | doi = 10.1074/jbc.M004373200 }}
*{{cite journal | author=Wang G, Yang X, Zhang Y, ''et al.'' |title=Identification and characterization of receptor for mammalian hepatopoietin that is homologous to yeast ERV1. |journal=J. Biol. Chem. |volume=274 |issue= 17 |pages= 11469-72 |year= 1999 |pmid= 10206950 |doi= }}
* {{cite journal | vauthors = Lu C, Li Y, Zhao Y, Xing G, Tang F, Wang Q, Sun Y, Wei H, Yang X, Wu C, Chen J, Guan KL, Zhang C, Chen H, He F | title = Intracrine hepatopoietin potentiates AP-1 activity through JAB1 independent of MAPK pathway | journal = FASEB Journal | volume = 16 | issue = 1 | pages = 90–2 | date = January 2002 | pmid = 11709497 | doi = 10.1096/fj.01-0506fje }}
*{{cite journal | author=Hofhaus G, Stein G, Polimeno L, ''et al.'' |title=Highly divergent amino termini of the homologous human ALR and yeast scERV1 gene products define species specific differences in cellular localization. |journal=Eur. J. Cell Biol. |volume=78 |issue= 5 |pages= 349-56 |year= 1999 |pmid= 10384986 |doi= }}
* {{cite journal | vauthors = Cheng J, Zhong YW, Liu Y, Dong J, Yang JZ, Chen JM | title = Cloning and sequence analysis of human genomic DNA of augmenter of liver regeneration | journal = World Journal of Gastroenterology | volume = 6 | issue = 2 | pages = 275–277 | date = April 2000 | pmid = 11819575 | doi = 10.3748/wjg.v6.i2.275 }}
*{{cite journal | author=Li Y, Li M, Xing G, ''et al.'' |title=Stimulation of the mitogen-activated protein kinase cascade and tyrosine phosphorylation of the epidermal growth factor receptor by hepatopoietin. |journal=J. Biol. Chem. |volume=275 |issue= 48 |pages= 37443-7 |year= 2001 |pmid= 10982794 |doi= 10.1074/jbc.M004373200 }}
* {{cite journal | vauthors = Li Y, Xing G, Wang Q, Li M, Wei H, Fan G, Chen J, Yang X, Wu C, Chen H, He F | title = Hepatopoietin acts as an autocrine growth factor in hepatoma cells | journal = DNA and Cell Biology | volume = 20 | issue = 12 | pages = 791–5 | date = December 2001 | pmid = 11879572 | doi = 10.1089/104454901753438606 }}
*{{cite journal | author=Lu C, Li Y, Zhao Y, ''et al.'' |title=Intracrine hepatopoietin potentiates AP-1 activity through JAB1 independent of MAPK pathway. |journal=FASEB J. |volume=16 |issue= 1 |pages= 90-2 |year= 2002 |pmid= 11709497 |doi= 10.1096/fj.01-0506fje }}
* {{cite journal | vauthors = Lu J, Xu WX, Zhan YQ, Cui XL, Cai WM, He FC, Yang XM | title = Identification and characterization of a novel isoform of hepatopoietin | journal = World Journal of Gastroenterology | volume = 8 | issue = 2 | pages = 353–6 | date = April 2002 | pmid = 11925624 | doi = 10.3748/wjg.v8.i2.353 }}
*{{cite journal | author=Cheng J, Zhong YW, Liu Y, ''et al.'' |title=Cloning and sequence analysis of human genomic DNA of augmenter of liver regeneration. |journal= |volume=6 |issue= 2 |pages= 275-277 |year= |pmid= 11819575 |doi= }}
* {{cite journal | vauthors = Li Y, Wei K, Lu C, Li Y, Li M, Xing G, Wei H, Wang Q, Chen J, Wu C, Chen H, Yang S, He F | title = Identification of hepatopoietin dimerization, its interacting regions and alternative splicing of its transcription | journal = European Journal of Biochemistry | volume = 269 | issue = 16 | pages = 3888–93 | date = August 2002 | pmid = 12180965 | doi = 10.1046/j.1432-1033.2002.03054.x }}
*{{cite journal | author=Li Y, Xing G, Wang Q, ''et al.'' |title=Hepatopoietin acts as an autocrine growth factor in hepatoma cells. |journal=DNA Cell Biol. |volume=20 |issue= 12 |pages= 791-5 |year= 2002 |pmid= 11879572 |doi= 10.1089/104454901753438606 }}
* {{cite journal | vauthors = Zhao Y, Tang F, Cheng J, Li L, Xing G, Zhu Y, Zhang L, Wei H, He F | title = An initiator and its flanking elements function as a core promoter driving transcription of the Hepatopoietin gene | journal = FEBS Letters | volume = 540 | issue = 1-3 | pages = 58–64 | date = April 2003 | pmid = 12681483 | doi = 10.1016/S0014-5793(03)00158-3 }}
*{{cite journal | author=Lu J, Xu WX, Zhan YQ, ''et al.'' |title=Identification and characterization of a novel isoform of hepatopoietin. |journal=World J. Gastroenterol. |volume=8 |issue= 2 |pages= 353-6 |year= 2002 |pmid= 11925624 |doi= }}
* {{cite journal | vauthors = Shen L, Hu J, Lu H, Wu M, Qin W, Wan D, Li YY, Gu J | title = The apoptosis-associated protein BNIPL interacts with two cell proliferation-related proteins, MIF and GFER | journal = FEBS Letters | volume = 540 | issue = 1-3 | pages = 86–90 | date = April 2003 | pmid = 12681488 | doi = 10.1016/S0014-5793(03)00229-1 }}
*{{cite journal | author=Li Y, Wei K, Lu C, ''et al.'' |title=Identification of hepatopoietin dimerization, its interacting regions and alternative splicing of its transcription. |journal=Eur. J. Biochem. |volume=269 |issue= 16 |pages= 3888-93 |year= 2002 |pmid= 12180965 |doi= }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal | author=Zhao Y, Tang F, Cheng J, ''et al.'' |title=An initiator and its flanking elements function as a core promoter driving transcription of the Hepatopoietin gene. |journal=FEBS Lett. |volume=540 |issue= 1-3 |pages= 58-64 |year= 2003 |pmid= 12681483 |doi= }}
*{{cite journal | author=Shen L, Hu J, Lu H, ''et al.'' |title=The apoptosis-associated protein BNIPL interacts with two cell proliferation-related proteins, MIF and GFER. |journal=FEBS Lett. |volume=540 |issue= 1-3 |pages= 86-90 |year= 2003 |pmid= 12681488 |doi= }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
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{{WikiDoc Sources}}

Latest revision as of 09:14, 10 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae), also known as GFER, or Hepatopoietin is a protein which in humans is encoded by the GFER gene. This gene is also known as essential for respiration and vegatative growth, augmenter of liver regeneration, and growth factor of Erv1-like/Hepatic regenerative stimulation substance. [1][2][3]

Structure

The GFER gene is located on the p arm of chromosome 16 at position 13.3 and it spans 3,600 base pairs.[1] The GFER gene produces a 15.4 kDa protein composed of 130 amino acids.[4][5] The structure of the protein is a homodimer which has been found to be fairly similar to the scERV1 protein of yeast.[6]

Genomics

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 human gene has three exons: the first encodes a 5' untranslated region and the first part of the protein; the second encodes the bulk of the protein; and the third the remainder.

Molecular biology

Proteins of the ERV1/ALR family are encoded by all eukaryotes and cytoplasmic DNA viruses for which the sequence data are available. All possess a C-X-X-C motif within a ~100 amino acid domain

Function

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 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.[1]

This protein interacts with Mia40 during the import of intermembrane space proteins including the small Tim proteins Cox17 and Cox19 both of which have disulfide bonds.

Clinical Significance

Mutations in GFER has been shown to result in Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD). MPMCHD is a disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay.

Interactions

GFER has been shown to interact with COP9 constitutive photomorphogenic homolog subunit 5[7] and BNIPL.[8]

References

  1. ↑ 1.0 1.1 1.2 "Entrez Gene: GFER growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae)".
  2. ↑ "GFER - FAD-linked sulfhydryl oxidase ALR - Homo sapiens (Human) - GFER gene & protein". Retrieved 2018-08-21.File:CC-BY-icon-80x15.png This article incorporates text available under the CC BY 4.0 license.
  3. ↑ "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.
  4. ↑ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
  5. ↑ "GFER-Sulfhydryl oxidase". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
  6. ↑ Lisowsky T, Weinstat-Saslow DL, Barton N, Reeders ST, Schneider MC (October 1995). "A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast". Genomics. 29 (3): 690–7. doi:10.1006/geno.1995.9950. PMID 8575761.
  7. ↑ Lu C, Li Y, Zhao Y, Xing G, Tang F, Wang Q, Sun Y, Wei H, Yang X, Wu C, Chen J, Guan KL, Zhang C, Chen H, He F (January 2002). "Intracrine hepatopoietin potentiates AP-1 activity through JAB1 independent of MAPK pathway". FASEB Journal. 16 (1): 90–2. doi:10.1096/fj.01-0506fje. PMID 11709497.
  8. ↑ Shen L, Hu J, Lu H, Wu M, Qin W, Wan D, Li YY, Gu J (April 2003). "The apoptosis-associated protein BNIPL interacts with two cell proliferation-related proteins, MIF and GFER". FEBS Letters. 540 (1–3): 86–90. doi:10.1016/S0014-5793(03)00229-1. PMID 12681488.

Further reading

  • Francavilla A, Hagiya M, Porter KA, Polimeno L, Ihara I, Starzl TE (September 1994). "Augmenter of liver regeneration: its place in the universe of hepatic growth factors". Hepatology. 20 (3): 747–57. doi:10.1002/hep.1840200328. PMID 8076931.
  • Gatzidou E, Kouraklis G, Theocharis S (August 2006). "Insights on augmenter of liver regeneration cloning and function". World Journal of Gastroenterology. 12 (31): 4951–8. doi:10.3748/wjg.v12.i31.4951. PMID 16937489.
  • Lisowsky T (March 1992). "Dual function of a new nuclear gene for oxidative phosphorylation and vegetative growth in yeast". Molecular & General Genetics. 232 (1): 58–64. doi:10.1007/BF00299137. PMID 1552903.
  • Renan MJ, Reeves BR (1987). "Chromosomal localization of human endogenous retroviral element ERV1 to 18q22----q23 by in situ hybridization". Cytogenetics and Cell Genetics. 44 (2–3): 167–70. doi:10.1159/000132365. PMID 3568764.
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