Human Gene GFER (ENST00000248114.7) from GENCODE V44
  Description: Homo sapiens growth factor, augmenter of liver regeneration (GFER), mRNA. (from RefSeq NM_005262)
RefSeq Summary (NM_005262): 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].
Gencode Transcript: ENST00000248114.7
Gencode Gene: ENSG00000127554.13
Transcript (Including UTRs)
   Position: hg38 chr16:1,984,193-1,987,749 Size: 3,557 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr16:1,984,219-1,986,028 Size: 1,810 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:1,984,193-1,987,749)mRNA (may differ from genome)Protein (205 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ALR_HUMAN
DESCRIPTION: RecName: Full=FAD-linked sulfhydryl oxidase ALR; EC=1.8.3.2; AltName: Full=Augmenter of liver regeneration; Short=hERV1; AltName: Full=Hepatopoietin;
FUNCTION: Isoform 1: FAD-dependent sulfhydryl oxidase. Within the mitochondrial intermembrane space, participates in a chain of disulfide exchange reactions with MIA40, that generate disulfide bonds in a number of resident proteins with twin Cx3C and Cx9C motifs.
FUNCTION: Isoform 2: May act as an autocrine hepatotrophic growth factor promoting liver regeneration.
CATALYTIC ACTIVITY: 2 R'C(R)SH + O(2) = R'C(R)S-S(R)CR' + H(2)O(2).
COFACTOR: FAD.
SUBUNIT: Homodimer; disulfide-linked. May form heterodimers of isoform 1 and isoform 2.
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion intermembrane space.
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Secreted.
TISSUE SPECIFICITY: Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle.
DISEASE: Defects in GFER are a cause of mitochondrial progressive myopathy with congenital cataract hearing loss and developmental delay (MPMCHD) [MIM:613076]; also called combined mitochondrial complex deficiency.
SIMILARITY: Contains 1 ERV/ALR sulfhydryl oxidase domain.
SEQUENCE CAUTION: Sequence=AAA96390.2; Type=Frameshift; Positions=70; Sequence=AAD36986.1; Type=Erroneous initiation; Sequence=AAD56538.1; Type=Erroneous initiation; Sequence=AAH02429.1; Type=Erroneous initiation; Sequence=AAH28348.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GFER
Diseases sorted by gene-association score: myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay* (1681), nodular regenerative hyperplasia (9), spinal canal and spinal cord meningioma (7), spinal meningioma (6), myeloproliferative syndrome, transient (6), wilson-turner syndrome (5), myopathy (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.82 RPKM in Testis
Total median expression: 152.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.1026-0.388 Picture PostScript Text
3' UTR -769.601721-0.447 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017905 - ERV/ALR_sulphydryl_oxidase
IPR006863 - Evr1_Alr

Pfam Domains:
PF04777 - Erv1 / Alr family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3MBG - X-ray MuPIT 3O55 - X-ray MuPIT 3TK0 - X-ray MuPIT 3U2L - X-ray MuPIT 3U2M - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P55789
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0015035 protein disulfide oxidoreductase activity
GO:0016491 oxidoreductase activity
GO:0016971 flavin-linked sulfhydryl oxidase activity
GO:0016972 thiol oxidase activity
GO:0050660 flavin adenine dinucleotide binding

Biological Process:
GO:0001889 liver development
GO:0010469 regulation of receptor activity
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005576 extracellular region
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  KJ901451 - Synthetic construct Homo sapiens clone ccsbBroadEn_10845 GFER gene, encodes complete protein.
KR711146 - Synthetic construct Homo sapiens clone CCSBHm_00020805 GFER (GFER) mRNA, encodes complete protein.
AB528688 - Synthetic construct DNA, clone: pF1KB6917, Homo sapiens GFER gene for growth factor, augmenter of liver regeneration, without stop codon, in Flexi system.
AF306863 - Homo sapiens hepatopoietin protein mRNA, complete cds.
BC002429 - Homo sapiens growth factor, augmenter of liver regeneration, mRNA (cDNA clone MGC:1445 IMAGE:3346679), complete cds.
BC028348 - Homo sapiens growth factor, augmenter of liver regeneration, mRNA (cDNA clone MGC:15249 IMAGE:3636052), complete cds.
AF124604 - Homo sapiens hepatopoietin HPO2 mRNA, complete cds.
U31176 - Homo sapiens ERV1 (ERV1) mRNA, complete cds.
JD399325 - Sequence 380349 from Patent EP1572962.
AF208342 - Homo sapiens truncated augmenter of liver regeneration (ALR) mRNA, ALR-95 allele, complete cds.
AY550027 - Homo sapiens augmenter of liver regeneration mRNA, complete cds.
AF124603 - Homo sapiens hepatopoietin HPO1 mRNA, partial cds.
JD265097 - Sequence 246121 from Patent EP1572962.
JD452544 - Sequence 433568 from Patent EP1572962.
JD101521 - Sequence 82545 from Patent EP1572962.
JD131930 - Sequence 112954 from Patent EP1572962.
JD059866 - Sequence 40890 from Patent EP1572962.
JD436094 - Sequence 417118 from Patent EP1572962.
JD120145 - Sequence 101169 from Patent EP1572962.
JD104215 - Sequence 85239 from Patent EP1572962.
JD411578 - Sequence 392602 from Patent EP1572962.
JD418481 - Sequence 399505 from Patent EP1572962.
JD473560 - Sequence 454584 from Patent EP1572962.
JD555807 - Sequence 536831 from Patent EP1572962.
JD098658 - Sequence 79682 from Patent EP1572962.
JD485524 - Sequence 466548 from Patent EP1572962.
JD485525 - Sequence 466549 from Patent EP1572962.
JD481296 - Sequence 462320 from Patent EP1572962.
JD262013 - Sequence 243037 from Patent EP1572962.
JD272353 - Sequence 253377 from Patent EP1572962.
JD449161 - Sequence 430185 from Patent EP1572962.
JD373864 - Sequence 354888 from Patent EP1572962.
JD373865 - Sequence 354889 from Patent EP1572962.
JD473072 - Sequence 454096 from Patent EP1572962.
JD484501 - Sequence 465525 from Patent EP1572962.
JD117375 - Sequence 98399 from Patent EP1572962.
JD037333 - Sequence 18357 from Patent EP1572962.
JD147591 - Sequence 128615 from Patent EP1572962.
JD280581 - Sequence 261605 from Patent EP1572962.
JD195649 - Sequence 176673 from Patent EP1572962.
JD147463 - Sequence 128487 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P55789 (Reactome details) participates in the following event(s):

R-HSA-1307802 MIA40:ERV1 (CHCHD4:GFER) oxidizes cysteine residues to cystine disulfide bonds
R-HSA-1268020 Mitochondrial protein import
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ALR, ALR_HUMAN, ENST00000248114.1, ENST00000248114.2, ENST00000248114.3, ENST00000248114.4, ENST00000248114.5, ENST00000248114.6, HERV1, HPO, NM_005262, P55789, Q53YM6, Q8TAH6, Q9H290, Q9UK40, uc002cob.1, uc002cob.2, uc002cob.3, uc002cob.4, uc002cob.5
UCSC ID: ENST00000248114.7
RefSeq Accession: NM_005262
Protein: P55789 (aka ALR_HUMAN)
CCDS: CCDS32368.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.