Movatterモバイル変換


[0]ホーム

URL:


Jump to content
WikipediaThe Free Encyclopedia
Search

FAHD1

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
FAHD1
Available structures
PDBOrtholog search:PDBeRCSB
List of PDB id codes

1SAW

Identifiers
AliasesFAHD1, C16orf36, YISKL, fumarylacetoacetate hydrolase domain containing 1
External IDsOMIM:616320;MGI:1915886;HomoloGene:6774;GeneCards:FAHD1;OMA:FAHD1 - orthologs
EC number4.1.1.112
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[1]
Chromosome 17 (mouse)
Genomic location for FAHD1
Genomic location for FAHD1
Band17|17 A3.3Start25,067,866bp[1]
End25,069,338bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • pancreatic ductal cell

  • jejunal mucosa

  • endothelial cell

  • duodenum

  • kidney

  • renal medulla

  • vastus lateralis muscle

  • human penis

  • liver

  • right ventricle
Top expressed in
  • Ileal epithelium

  • right kidney

  • human kidney

  • cardiac muscle tissue of left ventricle

  • duodenum

  • extensor digitorum longus muscle

  • interventricular septum

  • jejunum

  • plantaris muscle

  • left lobe of liver
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

81889

68636

Ensembl

n/a

ENSMUSG00000045316

UniProt

Q6P587

Q8R0F8

RefSeq (mRNA)

NM_031208
NM_001018104
NM_001142398

NM_023480

RefSeq (protein)

NP_001018114
NP_001135870
NP_112485

NP_075969

Location (UCSC)n/aChr 17: 25.07 – 25.07 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Fumarylacetoacetate hydrolase domain-containing protein 1, also known as FLJ36880 protein, is anenzyme that in humans is encoded by theFAHD1gene onchromosome 16.[4]


Structure

[edit]

The FAHD1 gene encodes for a 24-kDa protein that is localized to themitochondrion and belongs to thefumarylacetoacetate hydrolase family of proteins.[5] The structure of FAHD1 has been resolved usingX-ray crystallography at 2.2-Å resolution. The overall structure is similar to the C-terminal domain of the bifunctional enzyme HpcE from Escherichia coli C, fumarylacetoacetate hydrolase from Mus musculus and to YcgM (Apc5008) from E. coli 1262.[5] A number of conserved amino acids including Asp-102 and Arg-106 of FAHD1 appear to be important for its catalytic activity.[6]

Function

[edit]

The FAHD1 protein has been shown to function as anoxaloacetatedecarboxylase ineukaryotes.[7] The FAHD1 protein probably also functions as anacylpyruvase, having been shown to catalyze thehydrolysis ofacetylpyruvate andfumarylpyruvate in in vitro experiments.[5]Mg(2+) was required for maximal enzyme activity.[6]

References

[edit]
  1. ^abcGRCm38: Ensembl release 89: ENSMUSG00000045316Ensembl, May 2017
  2. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Entrez Gene: FAHD1 fumarylacetoacetate hydrolase domain containing 1".
  5. ^abcManjasetty BA, Niesen FH, Delbrück H, Götz F, Sievert V, Büssow K, Behlke J, Heinemann U (2004). "X-ray structure of fumarylacetoacetate hydrolase family member Homo sapiens FLJ36880".Biol. Chem.385 (10):935–42.doi:10.1515/BC.2004.122.PMID 15551868.S2CID 16759973.
  6. ^abPircher H, Straganz GD, Ehehalt D, Morrow G, Tanguay RM, Jansen-Dürr P (2011)."Identification of human fumarylacetoacetate hydrolase domain-containing protein 1 (FAHD1) as a novel mitochondrial acylpyruvase".J. Biol. Chem.286 (42):36500–8.doi:10.1074/jbc.M111.264770.PMC 3196145.PMID 21878618.
  7. ^Pircher H, von Grafenstein S, Diener T, Metzger C, Albertini E, Taferner A, Unterluggauer H, Kramer C, Liedl KR, Jansen-Dürr P (2015)."Identification of FAH domain-containing protein 1 (FAHD1) as oxaloacetate decarboxylase".J. Biol. Chem.290 (11):6755–62.doi:10.1074/jbc.M114.609305.PMC 4358102.PMID 25575590.

Further reading

[edit]
PDB gallery
  • 1saw: X-ray structure of homo sapiens protein FLJ36880
    1saw: X-ray structure of homo sapiens protein FLJ36880


Stub icon

This article on agene on humanchromosome 16 is astub. You can help Wikipedia byexpanding it.

Retrieved from "https://en.wikipedia.org/w/index.php?title=FAHD1&oldid=1210405244"
Categories:
Hidden categories:

[8]ページ先頭

©2009-2025 Movatter.jp