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Q53FZ2

- ACSM3_HUMAN

UniProt

Q53FZ2 - ACSM3_HUMAN

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Protein

Acyl-coenzyme A synthetase ACSM3, mitochondrial

Gene
ACSM3, SAH
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C4 to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) By similarity.

Catalytic activityi

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

Cofactori

Magnesium By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei461 – 4611ATP By similarity
Binding sitei476 – 4761ATP By similarity
Binding sitei572 – 5721ATP By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi235 – 2439ATP By similarity
Nucleotide bindingi374 – 3796ATP By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. butyrate-CoA ligase activity Source: UniProtKB-EC
  3. fatty acid ligase activity Source: Ensembl
  4. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. cholesterol homeostasis Source: BHF-UCL
  2. fatty acid biosynthetic process Source: Ensembl
  3. regulation of blood pressure Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism

Keywords - Ligandi

ATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:ACSM3
Synonyms:SAH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:10522. ACSM3.

Subcellular locationi

Mitochondrion matrix By similarity

GO - Cellular componenti

  1. mitochondrial matrix Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34930.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2727Mitochondrion Reviewed predictionAdd
BLAST
Chaini28 – 586559Acyl-coenzyme A synthetase ACSM3, mitochondrialPRO_0000306097Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei73 – 731N6-succinyllysine By similarity
Modified residuei106 – 1061N6-succinyllysine By similarity
Modified residuei157 – 1571N6-acetyllysine By similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ53FZ2.
PaxDbiQ53FZ2.
PRIDEiQ53FZ2.

PTM databases

PhosphoSiteiQ53FZ2.

Expressioni

Gene expression databases

ArrayExpressiQ53FZ2.
BgeeiQ53FZ2.
CleanExiHS_ACSM3.
GenevestigatoriQ53FZ2.

Organism-specific databases

HPAiHPA041013.

Interactioni

Protein-protein interaction databases

BioGridi112203. 1 interaction.
IntActiQ53FZ2. 1 interaction.
STRINGi9606.ENSP00000289416.

Structurei

3D structure databases

ProteinModelPortaliQ53FZ2.
SMRiQ53FZ2. Positions 54-584.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0365.
HOGENOMiHOG000229982.
HOVERGENiHBG053031.
InParanoidiQ53FZ2.
KOiK01896.
OMAiYAIVDEN.
OrthoDBiEOG7D85VZ.
PhylomeDBiQ53FZ2.
TreeFamiTF354287.

Family and domain databases

InterProiIPR025110. AMP-bd_C.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamiPF00501. AMP-binding. 1 hit.
PF13193. AMP-binding_C. 1 hit.
[Graphical view]
PROSITEiPS00455. AMP_BINDING. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q53FZ2-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MLARVTRKML RHAKCFQRLA IFGSVRALHK DNRTATPQNF SNYESMKQDF    50
KLGIPEYFNF AKDVLDQWTD KEKAGKKPSN PAFWWINRNG EEMRWSFEEL 100
GSLSRKFANI LSEACSLQRG DRVILILPRV PEWWLANVAC LRTGTVLIPG 150
TTQLTQKDIL YRLQSSKANC IITNDVLAPA VDAVASKCEN LHSKLIVSEN 200
SREGWGNLKE LMKHASDSHT CVKTKHNEIM AIFFTSGTSG YPKMTAHTHS 250
SFGLGLSVNG RFWLDLTPSD VMWNTSDTGW AKSAWSSVFS PWIQGACVFT 300
HHLPRFEPTS ILQTLSKYPI TVFCSAPTVY RMLVQNDITS YKFKSLKHCV 350
SAGEPITPDV TEKWRNKTGL DIYEGYGQTE TVLICGNFKG MKIKPGSMGK 400
PSPAFDVKIV DVNGNVLPPG QEGDIGIQVL PNRPFGLFTH YVDNPSKTAS 450
TLRGNFYITG DRGYMDKDGY FWFVARADDV ILSSGYRIGP FEVENALNEH 500
PSVAESAVVS SPDPIRGEVV KAFVVLNPDY KSHDQEQLIK EIQEHVKKTT 550
APYKYPRKVE FIQELPKTIS GKTKRNELRK KEWKTI 586
Length:586
Mass (Da):66,153
Last modified:October 2, 2007 - v2
Checksum:i329967C751F11F1D
GO
Isoform 2 (identifier: Q53FZ2-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:438
Mass (Da):49,485
Checksum:iA94538369727118F
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti100 – 1001L → P.
Corresponds to variant rs5713 [ dbSNP | Ensembl ].
VAR_035249
Natural varianti270 – 2701D → H.
Corresponds to variant rs13306603 [ dbSNP | Ensembl ].
VAR_048239
Natural varianti308 – 3081P → T.
Corresponds to variant rs7196188 [ dbSNP | Ensembl ].
VAR_035250
Natural varianti367 – 3671K → N.2 Publications
Corresponds to variant rs5716 [ dbSNP | Ensembl ].
VAR_035251

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei409 – 43830IVDVN…PFGLF → VCTSPSRRMFNNPICTLPTY RLPPYKLSLL in isoform 2. VSP_028395Add
BLAST
Alternative sequencei439 – 586148Missing in isoform 2. VSP_028396Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti132 – 1321E → R in BAA03853. 1 Publication
Sequence conflicti237 – 2371G → A in BAA03853. 1 Publication
Sequence conflicti245 – 2451T → S in BAA03853. 1 Publication
Sequence conflicti407 – 4071V → D in BAD96859. 1 Publication
Sequence conflicti463 – 4631G → A in BAA03853. 1 Publication
Sequence conflicti569 – 5691I → V in BAA03853. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS10589.1. [Q53FZ2-1]
CCDS45435.1. [Q53FZ2-2]
PIRiI54401.
S69913.
RefSeqiNP_005613.2. NM_005622.3. [Q53FZ2-1]
NP_973729.1. NM_202000.2. [Q53FZ2-2]
UniGeneiHs.706754.

Genome annotation databases

EnsembliENST00000289416; ENSP00000289416; ENSG00000005187. [Q53FZ2-1]
ENST00000440284; ENSP00000394565; ENSG00000005187. [Q53FZ2-2]
GeneIDi6296.
KEGGihsa:6296.
UCSCiuc002dhq.3. human. [Q53FZ2-2]
uc002dhr.3. human. [Q53FZ2-1]

Polymorphism databases

DMDMi158706483.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS10589.1. [Q53FZ2-1 ]
CCDS45435.1. [Q53FZ2-2 ]
PIRi I54401.
S69913.
RefSeqi NP_005613.2. NM_005622.3. [Q53FZ2-1 ]
NP_973729.1. NM_202000.2. [Q53FZ2-2 ]
UniGenei Hs.706754.

3D structure databases

ProteinModelPortali Q53FZ2.
SMRi Q53FZ2. Positions 54-584.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112203. 1 interaction.
IntActi Q53FZ2. 1 interaction.
STRINGi 9606.ENSP00000289416.

PTM databases

PhosphoSitei Q53FZ2.

Polymorphism databases

DMDMi 158706483.

Proteomic databases

MaxQBi Q53FZ2.
PaxDbi Q53FZ2.
PRIDEi Q53FZ2.

Protocols and materials databases

DNASUi 6296.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000289416 ; ENSP00000289416 ; ENSG00000005187 . [Q53FZ2-1 ]
ENST00000440284 ; ENSP00000394565 ; ENSG00000005187 . [Q53FZ2-2 ]
GeneIDi 6296.
KEGGi hsa:6296.
UCSCi uc002dhq.3. human. [Q53FZ2-2 ]
uc002dhr.3. human. [Q53FZ2-1 ]

Organism-specific databases

CTDi 6296.
GeneCardsi GC16P020683.
H-InvDB HIX0079728.
HIX0079834.
HGNCi HGNC:10522. ACSM3.
HPAi HPA041013.
MIMi 145505. gene.
neXtProti NX_Q53FZ2.
PharmGKBi PA34930.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0365.
HOGENOMi HOG000229982.
HOVERGENi HBG053031.
InParanoidi Q53FZ2.
KOi K01896.
OMAi YAIVDEN.
OrthoDBi EOG7D85VZ.
PhylomeDBi Q53FZ2.
TreeFami TF354287.

Miscellaneous databases

ChiTaRSi ACSM3. human.
GeneWikii ACSM3.
GenomeRNAii 6296.
NextBioi 24443.
PROi Q53FZ2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q53FZ2.
Bgeei Q53FZ2.
CleanExi HS_ACSM3.
Genevestigatori Q53FZ2.

Family and domain databases

InterProi IPR025110. AMP-bd_C.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view ]
Pfami PF00501. AMP-binding. 1 hit.
PF13193. AMP-binding_C. 1 hit.
[Graphical view ]
PROSITEi PS00455. AMP_BINDING. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), LACK OF INVOLVEMENT IN HEREDITARY HYPERTENSION.
  3. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: VARIANT ASN-367.

Entry informationi

Entry nameiACSM3_HUMAN
AccessioniPrimary (citable) accession number: Q53FZ2
Secondary accession number(s): O60363
, Q13732, Q15425, Q7KYM6, Q9BUA2
Entry historyi
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 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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi