FAH2B_HUMAN
ID FAH2B_HUMAN Reviewed; 314 AA.
AC Q6P2I3; D3DXH7; Q8NDK1;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Fumarylacetoacetate hydrolase domain-containing protein 2B;
DE EC=3.-.-.-;
GN Name=FAHD2B;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Ovary;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-314.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
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 -!- SIMILARITY: Belongs to the FAH family. {ECO:0000305}.
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DR EMBL; AC018892; AAY14641.1; -; Genomic_DNA.
DR EMBL; CH471207; EAW71310.1; -; Genomic_DNA.
DR EMBL; CH471207; EAW71311.1; -; Genomic_DNA.
DR EMBL; CH471207; EAW71312.1; -; Genomic_DNA.
DR EMBL; CH471207; EAW71313.1; -; Genomic_DNA.
DR EMBL; CH471207; EAW71314.1; -; Genomic_DNA.
DR EMBL; BC064511; AAH64511.1; -; mRNA.
DR EMBL; AL833869; CAD38727.1; -; mRNA.
DR CCDS; CCDS2030.1; -.
DR RefSeq; NP_001307777.1; NM_001320848.1.
DR RefSeq; NP_955368.1; NM_199336.2.
DR AlphaFoldDB; Q6P2I3; -.
DR SMR; Q6P2I3; -.
DR BioGRID; 127368; 17.
DR IntAct; Q6P2I3; 3.
DR STRING; 9606.ENSP00000410470; -.
DR iPTMnet; Q6P2I3; -.
DR PhosphoSitePlus; Q6P2I3; -.
DR BioMuta; FAHD2B; -.
DR DMDM; 74737217; -.
DR EPD; Q6P2I3; -.
DR jPOST; Q6P2I3; -.
DR MassIVE; Q6P2I3; -.
DR MaxQB; Q6P2I3; -.
DR PaxDb; Q6P2I3; -.
DR PeptideAtlas; Q6P2I3; -.
DR PRIDE; Q6P2I3; -.
DR ProteomicsDB; 66906; -.
DR Antibodypedia; 68953; 52 antibodies from 12 providers.
DR DNASU; 151313; -.
DR Ensembl; ENST00000272610.3; ENSP00000272610.3; ENSG00000144199.12.
DR Ensembl; ENST00000414820.6; ENSP00000410470.2; ENSG00000144199.12.
DR GeneID; 151313; -.
DR KEGG; hsa:151313; -.
DR MANE-Select; ENST00000414820.6; ENSP00000410470.2; NM_001320848.2; NP_001307777.1.
DR UCSC; uc002sxm.4; human.
DR CTD; 151313; -.
DR GeneCards; FAHD2B; -.
DR HGNC; HGNC:25318; FAHD2B.
DR HPA; ENSG00000144199; Low tissue specificity.
DR neXtProt; NX_Q6P2I3; -.
DR OpenTargets; ENSG00000144199; -.
DR PharmGKB; PA162385597; -.
DR VEuPathDB; HostDB:ENSG00000144199; -.
DR eggNOG; KOG1535; Eukaryota.
DR GeneTree; ENSGT00940000164887; -.
DR HOGENOM; CLU_028458_3_2_1; -.
DR InParanoid; Q6P2I3; -.
DR OMA; ESEMVIV; -.
DR PhylomeDB; Q6P2I3; -.
DR TreeFam; TF300911; -.
DR PathwayCommons; Q6P2I3; -.
DR SignaLink; Q6P2I3; -.
DR BioGRID-ORCS; 151313; 43 hits in 1006 CRISPR screens.
DR ChiTaRS; FAHD2B; human.
DR GenomeRNAi; 151313; -.
DR Pharos; Q6P2I3; Tdark.
DR PRO; PR:Q6P2I3; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6P2I3; protein.
DR Bgee; ENSG00000144199; Expressed in right hemisphere of cerebellum and 96 other tissues.
DR Genevisible; Q6P2I3; 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 2B"
FT /id="PRO_0000289796"
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 CONFLICT 33
FT /note="R -> W (in Ref. 4; CAD38727)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 314 AA; 34613 MW; 25B2BECA1CF7891F CRC64;
MLVSGRRRLL TALLQAQKWP FQPSRDMRLV QFRAPHLVGP HLGLETGNGG GVINLNAFDP
TLPKTMTQFL EQGEATLSVA RRALAAQLPV LPWSEVTFLA PVTWPDKVVC VGMNYVDHCK
EQNVPVPKEP IIFSKFASSI VGPYDEVVLP PQSQEVDWEV ELAVVIGKKG KHIKATDAMA
HVAGFTVAHD VSARDWLTRR NGKQWLLGKT FDTFCPLGPA LVTKDSVADP HNLKICCRVN
GEVVQSSNTN QMVFKTEDLI AWVSQFVTFY PGDVILTGTP PGVGVFRKPP VFLKKGDEVQ
CEIEELGVII NKVV
