Q96GK7 (FAH2A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Fumarylacetoacetate hydrolase domain-containing protein 2A
EC=3.-.-.-

Gene names

Name:	FAHD2A
ORF Names:	CGI-105

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	314 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May have hydrolase activity By similarity.
Cofactor	Calcium Probable. Magnesium Probable.
Sequence similarities	Belongs to the FAH family.

Ontologies

Keywords
Coding sequence diversity	Polymorphism
Ligand	Calcium Magnesium Metal-binding
Molecular function	Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	hydrolase activity Inferred from electronic annotation. Source: UniProtKB-KW metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 314	314	Fumarylacetoacetate hydrolase domain-containing protein 2A		PRO_0000289795
Natural variations
	Natural variant	198	1	M → T. Corresponds to variant rs1045332 [ dbSNP | Ensembl ].		VAR_049015
Experimental info
	Sequence conflict	183	1	A → G in AAD34100. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q96GK7 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 7409D1226B43FAF5	FASTA	314	34,596
	10 20 30 40 50 60 MLVSGRRRLL TVLLQAQKWP FQPSRDMRLV QFRAPHLVGP HLGLETGNGG GVINLNAFDP 70 80 90 100 110 120 TLPKTMTQFL EQGEATLSVA RRALAAQLPV LPRSEVTFLA PVTRPDKVVC VGMNYVDHCK 130 140 150 160 170 180 EQNVPVPKEP IIFSKFASSI VGPYDEVVLP PQSQEVDWEV ELAVVIGKKG KHIKATDAMA 190 200 210 220 230 240 HVAGFTVAHD VSARDWQMRR NGKQWLLGKT FDTFCPLGPA LVTKDSVADP HNLKICCRVN 250 260 270 280 290 300 GEVVQSGNTN QMVFKTEDLI AWVSQFVTFY PGDVILTGTP PGVGVFRKPP VFLKKGDEVQ 310 CEIEELGVII NKVV

References

[1]	"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics." Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C. Genome Res. 10:703-713(2000) [PubMed: 10810093] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: B-cell and Skin.
[4]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF151863 mRNA. Translation: AAD34100.1. AC009238 Genomic DNA. Translation: AAY14753.1. BC009403 mRNA. Translation: AAH09403.1. BC110911 mRNA. Translation: AAI10912.1.
IPI	IPI00329742.
RefSeq	NP_057128.2. NM_016044.2.
UniGene	Hs.531247. Hs.546387.
3D structure databases
HSSP	HSSP built from PDB template 1WZO based on UniProtKB Q5SJQ0.
ProteinModelPortal	Q96GK7.
SMR	Q96GK7. Positions 27-314.
ModBase	Search...
Protein-protein interaction databases
STRING	Q96GK7.
PTM databases
PhosphoSite	Q96GK7.
Polymorphism databases
DMDM	74731835.
Proteomic databases
PeptideAtlas	Q96GK7.
PRIDE	Q96GK7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000233379; ENSP00000233379; ENSG00000115042. ENST00000447036; ENSP00000406424; ENSG00000115042.
GeneID	51011.
KEGG	hsa:51011.
NMPDR	fig|9606.3.peg.18269.
UCSC	uc002sur.1. human.
Organism-specific databases
CTD	51011.
GeneCards	GC02P096068.
H-InvDB	HIX0002264.
HGNC	HGNC:24252. FAHD2A.
HPA	CAB045972. HPA042145. HPA044987.
neXtProt	NX_Q96GK7.
PharmGKB	PA134860971.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG17313.
GeneTree	ENSGT00530000063832.
HOGENOM	HBG729228.
HOVERGEN	HBG104460.
InParanoid	Q96GK7.
OMA	PQNLGMW.
PhylomeDB	Q96GK7.
Gene expression databases
ArrayExpress	Q96GK7.
Bgee	Q96GK7.
CleanEx	HS_FAHD2A.
Genevestigator	Q96GK7.
Family and domain databases
InterPro	IPR002529. Fumarylacetoacetase_C. IPR011234. Fumarylacetoacetase_C-rel. [Graphical view]
Gene3D	G3DSA:3.90.850.10. Fumarylacetoacetase_C-rel. 1 hit.
Pfam	PF01557. FAA_hydrolase. 1 hit. [Graphical view]
SUPFAM	SSF56529. Fumarylacetoacetase_C-rel. 1 hit.
ProtoNet	Search...
Other
NextBio	53500.

Entry information

Entry name

FAH2A_HUMAN

Accession

Primary (citable) accession number: Q96GK7
Secondary accession number(s): Q9Y3B0

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	December 1, 2001
Last modified:	January 25, 2012
This is version 77 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.