Hmdb loader
Identification
HMDB Protein ID HMDBP08263
Secondary Accession Numbers
  • 13975
Name FAD-linked sulfhydryl oxidase ALR
Synonyms
  1. Augmenter of liver regeneration
  2. Hepatopoietin
  3. hERV1
Gene Name GFER
Protein Type Unknown
Biological Properties
General Function Involved in thiol oxidase activity
Specific 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. Isoform 2: May act as an autocrine hepatotrophic growth factor promoting liver regeneration.
Pathways Not Available
Reactions
R'C(R)SH + Oxygen → R'C(R)S-S(R)CR' + Hydrogen peroxide details
GO Classification
Biological Process
spermatogenesis
cell proliferation
cellular protein metabolic process
protein targeting to mitochondrion
Cellular Component
mitochondrion
extracellular region
mitochondrial intermembrane space
Function
catalytic activity
oxidoreductase activity, acting on a sulfur group of donors
oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor
thiol oxidase activity
oxidoreductase activity
Molecular Function
thiol oxidase activity
Process
metabolic process
oxidation reduction
Cellular Location Not Available
Gene Properties
Chromosome Location 16
Locus 16p13.3-p13.12
SNPs GFER
Gene Sequence
>618 bp
ATGGCGGCGCCCGGCGAGCGGGGCCGCTTCCACGGCGGGAACCTCTTCTTCCTGCCGGGG
GGCGCGCGCTCCGAGATGATGGACGACCTGGCGACCGACGCGCGGGGCCGGGGCGCGGGG
CGGAGAGACGCGGCCGCCTCGGCCTCGACGCCAGCCCAGGCGCCGACCTCCGATTCTCCT
GTCGCCGAGGACGCCTCCCGGAGGCGGCCGTGCCGGGCCTGCGTCGACTTCAAGACGTGG
ATGCGGACGCAGCAGAAGCGGGACACCAAGTTTAGGGAGGACTGCCCGCCGGATCGCGAG
GAACTGGGCCGCCACAGCTGGGCTGTCCTCCACACCCTGGCCGCCTACTACCCCGACCTG
CCCACCCCAGAACAGCAGCAAGACATGGCCCAGTTCATACATTTATTTTCTAAGTTTTAC
CCCTGTGAGGAGTGTGCTGAAGACCTAAGAAAAAGGCTGTGCAGGAACCACCCAGACACC
CGCACCCGGGCATGCTTCACACAGTGGCTGTGCCACCTGCACAATGAAGTGAACCGCAAG
CTGGGCAAGCCTGACTTCGACTGCTCAAAAGTGGATGAGCGCTGGCGCGACGGCTGGAAG
GATGGCTCCTGTGACTAG
Protein Properties
Number of Residues 205
Molecular Weight 23448.95
Theoretical pI 7.621
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>FAD-linked sulfhydryl oxidase ALR
MAAPGERGRFHGGNLFFLPGGARSEMMDDLATDARGRGAGRRDAAASASTPAQAPTSDSP
VAEDASRRRPCRACVDFKTWMRTQQKRDTKFREDCPPDREELGRHSWAVLHTLAAYYPDL
PTPEQQQDMAQFIHLFSKFYPCEECAEDLRKRLCRNHPDTRTRACFTQWLCHLHNEVNRK
LGKPDFDCSKVDERWRDGWKDGSCD
GenBank ID Protein 54112432
UniProtKB/Swiss-Prot ID P55789
UniProtKB/Swiss-Prot Entry Name ALR_HUMAN
PDB IDs
GenBank Gene ID NM_005262.2
GeneCard ID GFER
GenAtlas ID GFER
HGNC ID HGNC:4236
References
General References
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  2. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. [PubMed:18669648 ]
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  4. Cheng J, Zhong Y: [Cloning and sequence analysis of human genomic DNA of augmenter of liver regeneration hepatitis]. Zhonghua Gan Zang Bing Za Zhi. 2000 Feb;8(1):12-4. [PubMed:10712775 ]
  5. Lisowsky T, Weinstat-Saslow DL, Barton N, Reeders ST, Schneider MC: A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast. Genomics. 1995 Oct 10;29(3):690-7. [PubMed:8575761 ]
  6. Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP: The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet. 2009 May;84(5):594-604. doi: 10.1016/j.ajhg.2009.04.004. Epub 2009 Apr 30. [PubMed:19409522 ]