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

Q53FZ2 (ACSM3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 84. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Acyl-coenzyme A synthetase ACSM3, mitochondrial

EC=6.2.1.2
Alternative name(s):
Acyl-CoA synthetase medium-chain family member 3
Butyrate--CoA ligase 3
Butyryl-coenzyme A synthetase 3
Middle-chain acyl-CoA synthetase 3
Protein SA homolog
Gene names
Name:ACSM3
Synonyms:SAH
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length586 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C4 to C11 and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) By similarity.

Catalytic activity

ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.

Cofactor

Magnesium By similarity.

Subcellular location

Mitochondrion matrix By similarity.

Sequence similarities

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

Caution

It is uncertain whether Met-1 or Met-9 is the initiator.

Sequence caution

The sequence AAC31667.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAA03853.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAA56369.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q53FZ2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q53FZ2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     409-438: IVDVNGNVLPPGQEGDIGIQVLPNRPFGLF → VCTSPSRRMFNNPICTLPTYRLPPYKLSLL
     439-586: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 2727Mitochondrion Potential
Chain28 – 586559Acyl-coenzyme A synthetase ACSM3, mitochondrial
PRO_0000306097

Regions

Nucleotide binding235 – 2439ATP By similarity
Nucleotide binding374 – 3796ATP By similarity

Sites

Binding site4611ATP By similarity
Binding site4761ATP By similarity
Binding site5721ATP By similarity

Amino acid modifications

Modified residue731N6-succinyllysine By similarity
Modified residue1061N6-succinyllysine By similarity
Modified residue1571N6-acetyllysine By similarity

Natural variations

Alternative sequence409 – 43830IVDVN…PFGLF → VCTSPSRRMFNNPICTLPTY RLPPYKLSLL in isoform 2.
VSP_028395
Alternative sequence439 – 586148Missing in isoform 2.
VSP_028396
Natural variant1001L → P.
Corresponds to variant rs5713 [ dbSNP | Ensembl ].
VAR_035249
Natural variant2701D → H.
Corresponds to variant rs13306603 [ dbSNP | Ensembl ].
VAR_048239
Natural variant3081P → T.
Corresponds to variant rs7196188 [ dbSNP | Ensembl ].
VAR_035250
Natural variant3671K → N. Ref.4 Ref.7
Corresponds to variant rs5716 [ dbSNP | Ensembl ].
VAR_035251

Experimental info

Sequence conflict1321E → R in BAA03853. Ref.1
Sequence conflict2371G → A in BAA03853. Ref.1
Sequence conflict2451T → S in BAA03853. Ref.1
Sequence conflict4071V → D in BAD96859. Ref.4
Sequence conflict4631G → A in BAA03853. Ref.1
Sequence conflict5691I → V in BAA03853. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 2, 2007. Version 2.
Checksum: 329967C751F11F1D

FASTA58666,153
        10         20         30         40         50         60 
MLARVTRKML RHAKCFQRLA IFGSVRALHK DNRTATPQNF SNYESMKQDF KLGIPEYFNF 

        70         80         90        100        110        120 
AKDVLDQWTD KEKAGKKPSN PAFWWINRNG EEMRWSFEEL GSLSRKFANI LSEACSLQRG 

       130        140        150        160        170        180 
DRVILILPRV PEWWLANVAC LRTGTVLIPG TTQLTQKDIL YRLQSSKANC IITNDVLAPA 

       190        200        210        220        230        240 
VDAVASKCEN LHSKLIVSEN SREGWGNLKE LMKHASDSHT CVKTKHNEIM AIFFTSGTSG 

       250        260        270        280        290        300 
YPKMTAHTHS SFGLGLSVNG RFWLDLTPSD VMWNTSDTGW AKSAWSSVFS PWIQGACVFT 

       310        320        330        340        350        360 
HHLPRFEPTS ILQTLSKYPI TVFCSAPTVY RMLVQNDITS YKFKSLKHCV SAGEPITPDV 

       370        380        390        400        410        420 
TEKWRNKTGL DIYEGYGQTE TVLICGNFKG MKIKPGSMGK PSPAFDVKIV DVNGNVLPPG 

       430        440        450        460        470        480 
QEGDIGIQVL PNRPFGLFTH YVDNPSKTAS TLRGNFYITG DRGYMDKDGY FWFVARADDV 

       490        500        510        520        530        540 
ILSSGYRIGP FEVENALNEH PSVAESAVVS SPDPIRGEVV KAFVVLNPDY KSHDQEQLIK 

       550        560        570        580 
EIQEHVKKTT APYKYPRKVE FIQELPKTIS GKTKRNELRK KEWKTI 

« Hide

Isoform 2 [UniParc].

Checksum: A94538369727118F
Show »

FASTA43849,485

References

« Hide 'large scale' references
[1]"Human SA gene locus as a candidate locus for essential hypertension."
Iwai N., Ohmichi N., Hanai K., Nakamura Y., Kinoshita M.
Hypertension 23:375-380(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Liver.
[2]"Evaluation of the SA locus in human hypertension."
Nabika T., Bonnardeaux A., James M., Julier C., Jeunemaitre X., Corvol P., Lathrop M., Soubrier F.
Hypertension 25:6-13(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), LACK OF INVOLVEMENT IN HEREDITARY HYPERTENSION.
[3]"Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q."
Loftus B.J., Kim U.-J., Sneddon V.P., Kalush F., Brandon R., Fuhrmann J., Mason T., Crosby M.L., Barnstead M., Cronin L., Mays A.D., Cao Y., Xu R.X., Kang H.-L., Mitchell S., Eichler E.E., Harris P.C., Venter J.C., Adams M.D.
Genomics 60:295-308(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASN-367.
Tissue: Kidney.
[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] (ISOFORM 2).
Tissue: Skin.
[6]"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].
[7]"SAH gene variants are associated with obesity-related hypertension in Caucasians: the PEGASE Study."
Telgmann R., Brand E., Nicaud V., Hagedorn C., Beining K., Schoenfelder J., Brink-Spalink V., Schmidt-Petersen K., Matanis T., Vischer P., Nofer J.-R., Hasenkamp S., Plouin P.-F., Drouet L., Cambien F., Paul M., Tiret L., Brand-Herrmann S.-M.
J. Hypertens. 25:557-564(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ASN-367.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
D16350 mRNA. Translation: BAA03853.1. Different initiation.
X80062 mRNA. Translation: CAA56369.1. Different initiation.
AC004381 Genomic DNA. Translation: AAC31667.1. Different initiation.
AK223139 mRNA. Translation: BAD96859.1.
BC002790 mRNA. Translation: AAH02790.3.
CCDSCCDS10589.1. [Q53FZ2-1]
CCDS45435.1. [Q53FZ2-2]
PIRI54401.
S69913.
RefSeqNP_005613.2. NM_005622.3. [Q53FZ2-1]
NP_973729.1. NM_202000.2. [Q53FZ2-2]
UniGeneHs.706754.

3D structure databases

ProteinModelPortalQ53FZ2.
SMRQ53FZ2. Positions 54-584.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112203. 1 interaction.
IntActQ53FZ2. 1 interaction.
STRING9606.ENSP00000289416.

PTM databases

PhosphoSiteQ53FZ2.

Polymorphism databases

DMDM158706483.

Proteomic databases

MaxQBQ53FZ2.
PaxDbQ53FZ2.
PRIDEQ53FZ2.

Protocols and materials databases

DNASU6296.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000289416; ENSP00000289416; ENSG00000005187. [Q53FZ2-1]
ENST00000440284; ENSP00000394565; ENSG00000005187. [Q53FZ2-2]
GeneID6296.
KEGGhsa:6296.
UCSCuc002dhq.3. human. [Q53FZ2-2]
uc002dhr.3. human. [Q53FZ2-1]

Organism-specific databases

CTD6296.
GeneCardsGC16P020683.
H-InvDBHIX0079728.
HIX0079834.
HGNCHGNC:10522. ACSM3.
HPAHPA041013.
MIM145505. gene.
neXtProtNX_Q53FZ2.
PharmGKBPA34930.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0365.
HOGENOMHOG000229982.
HOVERGENHBG053031.
InParanoidQ53FZ2.
KOK01896.
OMAYAIVDEN.
OrthoDBEOG7D85VZ.
PhylomeDBQ53FZ2.
TreeFamTF354287.

Gene expression databases

ArrayExpressQ53FZ2.
BgeeQ53FZ2.
CleanExHS_ACSM3.
GenevestigatorQ53FZ2.

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

ChiTaRSACSM3. human.
GeneWikiACSM3.
GenomeRNAi6296.
NextBio24443.
PROQ53FZ2.
SOURCESearch...

Entry information

Entry nameACSM3_HUMAN
AccessionPrimary (citable) accession number: Q53FZ2
Secondary accession number(s): O60363 expand/collapse secondary AC list , Q13732, Q15425, Q7KYM6, Q9BUA2
Entry history
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: July 9, 2014
This is version 84 of the entry and version 2 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