Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Fumarylacetoacetate hydrolase domain-containing protein 2A

Gene

FAHD2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at protein leveli

Functioni

May have hydrolase activity.By similarity

Cofactori

Protein has several cofactor binding sites:

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi159 – 1591Divalent metal cationBy similarity
Metal bindingi161 – 1611Divalent metal cationBy similarity
Metal bindingi190 – 1901Divalent metal cationBy similarity

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Ligandi

Calcium, 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

HGNCiHGNC:24252. FAHD2A.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134860971.

Polymorphism and mutation databases

BioMutaiFAHD2A.
DMDMi74731835.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 314314Fumarylacetoacetate hydrolase domain-containing protein 2APRO_0000289795Add
BLAST

Proteomic databases

EPDiQ96GK7.
MaxQBiQ96GK7.
PaxDbiQ96GK7.
PeptideAtlasiQ96GK7.
PRIDEiQ96GK7.

PTM databases

iPTMnetiQ96GK7.
PhosphoSiteiQ96GK7.

Expressioni

Gene expression databases

BgeeiQ96GK7.
CleanExiHS_FAHD2A.
ExpressionAtlasiQ96GK7. baseline and differential.
GenevisibleiQ96GK7. HS.

Organism-specific databases

HPAiCAB045971.
CAB045972.
HPA042145.
HPA044987.
HPA051292.

Interactioni

Protein-protein interaction databases

BioGridi119218. 11 interactions.
STRINGi9606.ENSP00000233379.

Structurei

3D structure databases

ProteinModelPortaliQ96GK7.
SMRiQ96GK7. Positions 66-314.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAH family.Curated

Phylogenomic databases

eggNOGiKOG1535. Eukaryota.
COG0179. LUCA.
GeneTreeiENSGT00530000063832.
HOGENOMiHOG000063754.
HOVERGENiHBG104460.
InParanoidiQ96GK7.
OMAiTFDSFCP.
PhylomeDBiQ96GK7.
TreeFamiTF300911.

Family and domain databases

Gene3Di3.90.850.10. 1 hit.
InterProiIPR011234. Fumarylacetoacetase_C-rel.
[Graphical view]
PfamiPF01557. FAA_hydrolase. 1 hit.
[Graphical view]
SUPFAMiSSF56529. SSF56529. 1 hit.

Sequencei

Sequence statusi: Complete.

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti183 – 1831A → G in AAD34100 (PubMed:10810093).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti198 – 1981M → T.
Corresponds to variant rs1045332 [ dbSNP | Ensembl ].
VAR_049015

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_011511289.1.
UniGeneiHs.531247.
Hs.546387.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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_011511289.1.
UniGeneiHs.531247.
Hs.546387.

3D structure databases

ProteinModelPortaliQ96GK7.
SMRiQ96GK7. Positions 66-314.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119218. 11 interactions.
STRINGi9606.ENSP00000233379.

PTM databases

iPTMnetiQ96GK7.
PhosphoSiteiQ96GK7.

Polymorphism and mutation databases

BioMutaiFAHD2A.
DMDMi74731835.

Proteomic databases

EPDiQ96GK7.
MaxQBiQ96GK7.
PaxDbiQ96GK7.
PeptideAtlasiQ96GK7.
PRIDEiQ96GK7.

Protocols and materials databases

DNASUi51011.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi51011.
GeneCardsiFAHD2A.
HGNCiHGNC:24252. FAHD2A.
HPAiCAB045971.
CAB045972.
HPA042145.
HPA044987.
HPA051292.
neXtProtiNX_Q96GK7.
PharmGKBiPA134860971.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1535. Eukaryota.
COG0179. LUCA.
GeneTreeiENSGT00530000063832.
HOGENOMiHOG000063754.
HOVERGENiHBG104460.
InParanoidiQ96GK7.
OMAiTFDSFCP.
PhylomeDBiQ96GK7.
TreeFamiTF300911.

Miscellaneous databases

ChiTaRSiFAHD2A. human.
GenomeRNAii51011.
PROiQ96GK7.

Gene expression databases

BgeeiQ96GK7.
CleanExiHS_FAHD2A.
ExpressionAtlasiQ96GK7. baseline and differential.
GenevisibleiQ96GK7. HS.

Family and domain databases

Gene3Di3.90.850.10. 1 hit.
InterProiIPR011234. Fumarylacetoacetase_C-rel.
[Graphical view]
PfamiPF01557. FAA_hydrolase. 1 hit.
[Graphical view]
SUPFAMiSSF56529. SSF56529. 1 hit.
ProtoNetiSearch...

Publicationsi

  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: B-cell and Skin.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiFAH2A_HUMAN
AccessioniPrimary (citable) accession number: Q96GK7
Secondary accession number(s): Q9Y3B0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: December 1, 2001
Last modified: June 8, 2016
This is version 115 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.