FAH2A_HUMAN
ID FAH2A_HUMAN Reviewed; 314 AA.
AC Q96GK7; Q9Y3B0;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Fumarylacetoacetate hydrolase domain-containing protein 2A;
DE EC=3.-.-.-;
GN Name=FAHD2A; ORFNames=CGI-105;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=10810093; DOI=10.1101/gr.10.5.703;
RA Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.;
RT "Identification of novel human genes evolutionarily conserved in
RT Caenorhabditis elegans by comparative proteomics.";
RL Genome Res. 10:703-713(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=B-cell, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: May have hydrolase activity. {ECO:0000250}.
CC -!- COFACTOR:
CC Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence={ECO:0000305};
CC -!- COFACTOR:
CC Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000305};
CC -!- INTERACTION:
CC Q96GK7; P27797: CALR; NbExp=3; IntAct=EBI-21647872, EBI-1049597;
CC Q96GK7; P36957: DLST; NbExp=3; IntAct=EBI-21647872, EBI-351007;
CC Q96GK7; Q8TDX7: NEK7; NbExp=3; IntAct=EBI-21647872, EBI-1055945;
CC -!- SIMILARITY: Belongs to the FAH family. {ECO:0000305}.
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DR EMBL; AF151863; AAD34100.1; -; mRNA.
DR EMBL; AC009238; AAY14753.1; -; Genomic_DNA.
DR EMBL; BC009403; AAH09403.1; -; mRNA.
DR EMBL; BC110911; AAI10912.1; -; mRNA.
DR CCDS; CCDS2014.1; -.
DR RefSeq; NP_057128.2; NM_016044.2.
DR RefSeq; XP_011509591.1; XM_011511289.2.
DR RefSeq; XP_016859725.1; XM_017004236.1.
DR RefSeq; XP_016859726.1; XM_017004237.1.
DR RefSeq; XP_016859727.1; XM_017004238.1.
DR RefSeq; XP_016859728.1; XM_017004239.1.
DR RefSeq; XP_016859729.1; XM_017004240.1.
DR AlphaFoldDB; Q96GK7; -.
DR SMR; Q96GK7; -.
DR BioGRID; 119218; 51.
DR IntAct; Q96GK7; 10.
DR STRING; 9606.ENSP00000233379; -.
DR iPTMnet; Q96GK7; -.
DR PhosphoSitePlus; Q96GK7; -.
DR BioMuta; FAHD2A; -.
DR DMDM; 74731835; -.
DR EPD; Q96GK7; -.
DR jPOST; Q96GK7; -.
DR MassIVE; Q96GK7; -.
DR MaxQB; Q96GK7; -.
DR PaxDb; Q96GK7; -.
DR PeptideAtlas; Q96GK7; -.
DR PRIDE; Q96GK7; -.
DR ProteomicsDB; 76640; -.
DR Antibodypedia; 35241; 353 antibodies from 19 providers.
DR DNASU; 51011; -.
DR Ensembl; ENST00000233379.9; ENSP00000233379.4; ENSG00000115042.10.
DR Ensembl; ENST00000447036.5; ENSP00000406424.1; ENSG00000115042.10.
DR GeneID; 51011; -.
DR KEGG; hsa:51011; -.
DR MANE-Select; ENST00000233379.9; ENSP00000233379.4; NM_016044.3; NP_057128.2.
DR UCSC; uc002sut.2; human.
DR CTD; 51011; -.
DR GeneCards; FAHD2A; -.
DR HGNC; HGNC:24252; FAHD2A.
DR HPA; ENSG00000115042; Tissue enhanced (liver).
DR neXtProt; NX_Q96GK7; -.
DR OpenTargets; ENSG00000115042; -.
DR PharmGKB; PA134860971; -.
DR VEuPathDB; HostDB:ENSG00000115042; -.
DR eggNOG; KOG1535; Eukaryota.
DR GeneTree; ENSGT00940000160571; -.
DR HOGENOM; CLU_028458_3_2_1; -.
DR InParanoid; Q96GK7; -.
DR OMA; PPEPIIF; -.
DR OrthoDB; 1216556at2759; -.
DR PhylomeDB; Q96GK7; -.
DR TreeFam; TF300911; -.
DR PathwayCommons; Q96GK7; -.
DR SignaLink; Q96GK7; -.
DR BioGRID-ORCS; 51011; 27 hits in 1002 CRISPR screens.
DR ChiTaRS; FAHD2A; human.
DR GenomeRNAi; 51011; -.
DR Pharos; Q96GK7; Tdark.
DR PRO; PR:Q96GK7; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q96GK7; protein.
DR Bgee; ENSG00000115042; Expressed in right lobe of liver and 168 other tissues.
DR ExpressionAtlas; Q96GK7; baseline and differential.
DR Genevisible; Q96GK7; HS.
DR GO; GO:0016836; F:hydro-lyase activity; IBA:GO_Central.
DR GO; GO:0016787; F:hydrolase activity; IEA:UniProtKB-KW.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR Gene3D; 3.90.850.10; -; 1.
DR InterPro; IPR011234; Fumarylacetoacetase-like_C.
DR InterPro; IPR036663; Fumarylacetoacetase_C_sf.
DR Pfam; PF01557; FAA_hydrolase; 1.
DR SUPFAM; SSF56529; SSF56529; 1.
PE 1: Evidence at protein level;
KW Calcium; Hydrolase; Magnesium; Metal-binding; Reference proteome.
FT CHAIN 1..314
FT /note="Fumarylacetoacetate hydrolase domain-containing
FT protein 2A"
FT /id="PRO_0000289795"
FT BINDING 159
FT /ligand="a divalent metal cation"
FT /ligand_id="ChEBI:CHEBI:60240"
FT /evidence="ECO:0000250|UniProtKB:Q6P587"
FT BINDING 161
FT /ligand="a divalent metal cation"
FT /ligand_id="ChEBI:CHEBI:60240"
FT /evidence="ECO:0000250|UniProtKB:Q6P587"
FT BINDING 190
FT /ligand="a divalent metal cation"
FT /ligand_id="ChEBI:CHEBI:60240"
FT /evidence="ECO:0000250|UniProtKB:Q6P587"
FT VARIANT 198
FT /note="M -> T (in dbSNP:rs1045332)"
FT /id="VAR_049015"
FT CONFLICT 183
FT /note="A -> G (in Ref. 1; AAD34100)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 314 AA; 34596 MW; 7409D1226B43FAF5 CRC64;
MLVSGRRRLL TVLLQAQKWP FQPSRDMRLV QFRAPHLVGP HLGLETGNGG GVINLNAFDP
TLPKTMTQFL EQGEATLSVA RRALAAQLPV LPRSEVTFLA PVTRPDKVVC VGMNYVDHCK
EQNVPVPKEP IIFSKFASSI VGPYDEVVLP PQSQEVDWEV ELAVVIGKKG KHIKATDAMA
HVAGFTVAHD VSARDWQMRR NGKQWLLGKT FDTFCPLGPA LVTKDSVADP HNLKICCRVN
GEVVQSGNTN QMVFKTEDLI AWVSQFVTFY PGDVILTGTP PGVGVFRKPP VFLKKGDEVQ
CEIEELGVII NKVV
