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Protein

Fumarylacetoacetate hydrolase domain-containing protein 2A

Gene

FAHD2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May have hydrolase activity.By similarity

Cofactori

Protein has several cofactor binding sites:

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi159Divalent metal cationBy similarity1
Metal bindingi161Divalent metal cationBy similarity1
Metal bindingi190Divalent metal cationBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
LigandCalcium, Magnesium, Metal-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Fumarylacetoacetate hydrolase domain-containing protein 2A (EC:3.-.-.-)
Gene namesi
Name:FAHD2A
ORF Names:CGI-105
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000115042.9
HGNCiHGNC:24252 FAHD2A
neXtProtiNX_Q96GK7

Pathology & Biotechi

Organism-specific databases

DisGeNETi51011
OpenTargetsiENSG00000115042
PharmGKBiPA134860971

Polymorphism and mutation databases

BioMutaiFAHD2A
DMDMi74731835

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002897951 – 314Fumarylacetoacetate hydrolase domain-containing protein 2AAdd BLAST314

Proteomic databases

EPDiQ96GK7
MaxQBiQ96GK7
PaxDbiQ96GK7
PeptideAtlasiQ96GK7
PRIDEiQ96GK7
ProteomicsDBi76640

PTM databases

iPTMnetiQ96GK7
PhosphoSitePlusiQ96GK7

Expressioni

Gene expression databases

BgeeiENSG00000115042 Expressed in 223 organ(s), highest expression level in saliva-secreting gland
CleanExiHS_FAHD2A
ExpressionAtlasiQ96GK7 baseline and differential
GenevisibleiQ96GK7 HS

Organism-specific databases

HPAiCAB045971
CAB045972
HPA042145
HPA044987

Interactioni

Protein-protein interaction databases

BioGridi119218, 15 interactors
STRINGi9606.ENSP00000233379

Structurei

3D structure databases

ProteinModelPortaliQ96GK7
SMRiQ96GK7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAH family.Curated

Phylogenomic databases

eggNOGiKOG1535 Eukaryota
COG0179 LUCA
GeneTreeiENSGT00530000063832
HOGENOMiHOG000063754
HOVERGENiHBG104460
InParanoidiQ96GK7
OMAiMVFKTEE
OrthoDBiEOG091G0I6G
PhylomeDBiQ96GK7
TreeFamiTF300911

Family and domain databases

Gene3Di3.90.850.10, 1 hit
InterProiView protein in InterPro
IPR011234 Fumarylacetoacetase-like_C
IPR036663 Fumarylacetoacetase_C_sf
PfamiView protein in Pfam
PF01557 FAA_hydrolase, 1 hit
SUPFAMiSSF56529 SSF56529, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.iShow all

Q96GK7-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLVSGRRRLL TVLLQAQKWP FQPSRDMRLV QFRAPHLVGP HLGLETGNGG
60 70 80 90 100
GVINLNAFDP TLPKTMTQFL EQGEATLSVA RRALAAQLPV LPRSEVTFLA
110 120 130 140 150
PVTRPDKVVC VGMNYVDHCK EQNVPVPKEP IIFSKFASSI VGPYDEVVLP
160 170 180 190 200
PQSQEVDWEV ELAVVIGKKG KHIKATDAMA HVAGFTVAHD VSARDWQMRR
210 220 230 240 250
NGKQWLLGKT FDTFCPLGPA LVTKDSVADP HNLKICCRVN GEVVQSGNTN
260 270 280 290 300
QMVFKTEDLI AWVSQFVTFY PGDVILTGTP PGVGVFRKPP VFLKKGDEVQ
310
CEIEELGVII NKVV
Length:314
Mass (Da):34,596
Last modified:December 1, 2001 - v1
Checksum:i7409D1226B43FAF5
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JGM0C9JGM0_HUMAN
Fumarylacetoacetate hydrolase domai...
FAHD2A
127Annotation score:
C9J5B6C9J5B6_HUMAN
Fumarylacetoacetate hydrolase domai...
FAHD2A
81Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti183A → G in AAD34100 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049015198M → T. Corresponds to variant dbSNP:rs1045332Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151863 mRNA Translation: AAD34100.1
AC009238 Genomic DNA Translation: AAY14753.1
BC009403 mRNA Translation: AAH09403.1
BC110911 mRNA Translation: AAI10912.1
CCDSiCCDS2014.1
RefSeqiNP_057128.2, NM_016044.2
XP_011509591.1, XM_011511289.2
XP_016859725.1, XM_017004236.1
XP_016859726.1, XM_017004237.1
XP_016859727.1, XM_017004238.1
XP_016859728.1, XM_017004239.1
XP_016859729.1, XM_017004240.1
UniGeneiHs.531247
Hs.546387

Genome annotation databases

EnsembliENST00000233379; ENSP00000233379; ENSG00000115042
ENST00000447036; ENSP00000406424; ENSG00000115042
GeneIDi51011
KEGGihsa:51011
UCSCiuc002sut.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFAH2A_HUMAN
AccessioniPrimary (citable) accession number: Q96GK7
Secondary accession number(s): Q9Y3B0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 128 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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