Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q4G176 (ACSF3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Acyl-CoA synthetase family member 3, mitochondrial

EC=6.2.1.-
Gene names
Name:ACSF3
ORF Names:PSEC0197
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length576 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates. Ref.6 Ref.8

Subcellular location

Mitochondrion Ref.8.

Involvement in disease

Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]: A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the ATP-dependent AMP-binding enzyme family.

Sequence caution

The sequence AAH72391.1 differs from that shown. Reason: Aberrant splicing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 8383Mitochondrion Potential
Chain84 – 576493Acyl-CoA synthetase family member 3, mitochondrial
PRO_0000315800

Regions

Nucleotide binding202 – 2109ATP By similarity

Sites

Binding site4571ATP By similarity
Binding site4711ATP By similarity
Binding site5631ATP By similarity

Natural variations

Natural variant21L → P. Ref.5
Corresponds to variant rs7188200 [ dbSNP | Ensembl ].
VAR_038306
Natural variant171A → P. Ref.5
Corresponds to variant rs11547019 [ dbSNP | Ensembl ].
VAR_038307
Natural variant1981M → R in CMAMMA. Ref.8
VAR_066504
Natural variant2431P → L in CMAMMA. Ref.8
Corresponds to variant rs140986055 [ dbSNP | Ensembl ].
VAR_066505
Natural variant3581T → I in CMAMMA. Ref.8
VAR_066506
Natural variant3591E → K in CMAMMA. Ref.8
Corresponds to variant rs150487794 [ dbSNP | Ensembl ].
VAR_066507
Natural variant3721V → M. Ref.5
Corresponds to variant rs3743979 [ dbSNP | Ensembl ].
VAR_038308
Natural variant4621K → T in CMAMMA. Ref.8
VAR_066508
Natural variant465 – 4706Missing in CMAMMA.
VAR_066509
Natural variant4711R → Q in CMAMMA. Ref.8
VAR_066510
Natural variant4711R → W in CMAMMA. Ref.8
Corresponds to variant rs138680796 [ dbSNP | Ensembl ].
VAR_066511
Natural variant4801G → S in CMAMMA. Ref.8
VAR_066512
Natural variant5581R → W in CMAMMA. Ref.8
Corresponds to variant rs141090143 [ dbSNP | Ensembl ].
VAR_066513

Experimental info

Sequence conflict1481A → V in AAH28399. Ref.5
Sequence conflict2781K → E in BAC11654. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q4G176 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 60F0D5020817EF70

FASTA57664,130
        10         20         30         40         50         60 
MLPHVVLTFR RLGCALASCR LAPARHRGSG LLHTAPVARS DRSAPVFTRA LAFGDRIALV 

        70         80         90        100        110        120 
DQHGRHTYRE LYSRSLRLSQ EICRLCGCVG GDLREERVSF LCANDASYVV AQWASWMSGG 

       130        140        150        160        170        180 
VAVPLYRKHP AAQLEYVICD SQSSVVLASQ EYLELLSPVV RKLGVPLLPL TPAIYTGAVE 

       190        200        210        220        230        240 
EPAEVPVPEQ GWRNKGAMII YTSGTTGRPK GVLSTHQNIR AVVTGLVHKW AWTKDDVILH 

       250        260        270        280        290        300 
VLPLHHVHGV VNALLCPLWV GATCVMMPEF SPQQVWEKFL SSETPRINVF MAVPTIYTKL 

       310        320        330        340        350        360 
MEYYDRHFTQ PHAQDFLRAV CEEKIRLMVS GSAALPLPVL EKWKNITGHT LLERYGMTEI 

       370        380        390        400        410        420 
GMALSGPLTT AVRLPGSVGT PLPGVQVRIV SENPQREACS YTIHAEGDER GTKVTPGFEE 

       430        440        450        460        470        480 
KEGELLVRGP SVFREYWNKP EETKSAFTLD GWFKTGDTVV FKDGQYWIRG RTSVDIIKTG 

       490        500        510        520        530        540 
GYKVSALEVE WHLLAHPSIT DVAVIGVPDM TWGQRVTAVV TLREGHSLSH RELKEWARNV 

       550        560        570 
LAPYAVPSEL VLVEEIPRNQ MGKIDKKALI RHFHPS 

« Hide

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. expand/collapse author list , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Embryo.
[3]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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], VARIANTS PRO-2; PRO-17 AND MET-372.
Tissue: Brain.
[6]"Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome."
Watkins P.A., Maiguel D., Jia Z., Pevsner J.
J. Lipid Res. 48:2736-2750(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, ENZYME ACTIVITY.
[7]"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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria."
Sloan J.L., Johnston J.J., Manoli I., Chandler R.J., Krause C., Carrillo-Carrasco N., Chandrasekaran S.D., Sysol J.R., O'Brien K., Hauser N.S., Sapp J.C., Dorward H.M., Huizing M., Barshop B.A., Berry S.A., James P.M., Champaigne N.L., de Lonlay P. expand/collapse author list , Valayannopoulos V., Geschwind M.D., Gavrilov D.K., Nyhan W.L., Biesecker L.G., Venditti C.P.
Nat. Genet. 43:883-886(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CMAMMA ARG-198; LEU-243; ILE-358; LYS-359; THR-462; 465-GLN--GLY-470 DEL; GLN-471; TRP-471; SER-480 AND TRP-558, FUNCTION, SUBCELLULAR LOCATION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK075499 mRNA. Translation: BAC11654.1.
AK290963 mRNA. Translation: BAF83652.1.
AC009113 Genomic DNA. No translation available.
AC135782 Genomic DNA. No translation available.
CH471184 Genomic DNA. Translation: EAW66744.1.
BC028399 mRNA. Translation: AAH28399.1.
BC072391 mRNA. Translation: AAH72391.1. Sequence problems.
RefSeqNP_001120686.1. NM_001127214.3.
NP_001230208.1. NM_001243279.2.
NP_777577.2. NM_174917.4.
UniGeneHs.461727.
Hs.720526.

3D structure databases

ProteinModelPortalQ4G176.
SMRQ4G176. Positions 43-564.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128248. 4 interactions.
STRING9606.ENSP00000320646.

PTM databases

PhosphoSiteQ4G176.

Polymorphism databases

DMDM296439438.

Proteomic databases

PaxDbQ4G176.
PRIDEQ4G176.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000317447; ENSP00000320646; ENSG00000176715.
ENST00000406948; ENSP00000384627; ENSG00000176715.
GeneID197322.
KEGGhsa:197322.
UCSCuc002fmp.3. human.

Organism-specific databases

CTD197322.
GeneCardsGC16P089160.
H-InvDBHIX0013347.
HGNCHGNC:27288. ACSF3.
HPAHPA008322.
HPA008323.
MIM614245. gene.
614265. phenotype.
neXtProtNX_Q4G176.
Orphanet289504. Combined malonic and methylmalonic acidemia.
PharmGKBPA162375375.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0318.
HOGENOMHOG000229983.
HOVERGENHBG100430.
InParanoidQ4G176.
OMAENIRLMV.
OrthoDBEOG7W9RVK.
PhylomeDBQ4G176.
TreeFamTF312995.

Gene expression databases

ArrayExpressQ4G176.
BgeeQ4G176.
CleanExHS_ACSF3.
GenevestigatorQ4G176.

Family and domain databases

InterProIPR025110. AMP-bd_C.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamPF00501. AMP-binding. 1 hit.
PF13193. AMP-binding_C. 1 hit.
[Graphical view]
PROSITEPS00455. AMP_BINDING. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiACSF3.
GenomeRNAi197322.
NextBio89644.
PROQ4G176.
SOURCESearch...

Entry information

Entry nameACSF3_HUMAN
AccessionPrimary (citable) accession number: Q4G176
Secondary accession number(s): A8K4J8 expand/collapse secondary AC list , C9JQL6, Q6INA0, Q8N2F7
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 77 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM