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Protein

Acyl-coenzyme A synthetase ACSM3, mitochondrial

Gene

ACSM3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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).By similarity

Catalytic activityi

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

Cofactori

Mg2+By similarity

Sites

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

Regions

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

GO - Molecular functioni

GO - Biological processi

  • cholesterol homeostasis Source: BHF-UCL
  • fatty acid biosynthetic process Source: Ensembl
  • 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 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:10522. ACSM3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34930.

Polymorphism and mutation databases

BioMutaiACSM3.
DMDMi158706483.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei73 – 731N6-succinyllysineBy similarity
Modified residuei106 – 1061N6-succinyllysineBy similarity
Modified residuei157 – 1571N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ53FZ2.
PaxDbiQ53FZ2.
PRIDEiQ53FZ2.

PTM databases

PhosphoSiteiQ53FZ2.

Expressioni

Gene expression databases

BgeeiQ53FZ2.
CleanExiHS_ACSM3.
ExpressionAtlasiQ53FZ2. baseline and differential.
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.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0365.
GeneTreeiENSGT00760000119178.
HOGENOMiHOG000229982.
HOVERGENiHBG053031.
InParanoidiQ53FZ2.
KOiK01896.
OMAiTYPVGHL.
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. AlignAdd to basket

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

        10         20         30         40         50
MLARVTRKML RHAKCFQRLA IFGSVRALHK DNRTATPQNF SNYESMKQDF
60 70 80 90 100
KLGIPEYFNF AKDVLDQWTD KEKAGKKPSN PAFWWINRNG EEMRWSFEEL
110 120 130 140 150
GSLSRKFANI LSEACSLQRG DRVILILPRV PEWWLANVAC LRTGTVLIPG
160 170 180 190 200
TTQLTQKDIL YRLQSSKANC IITNDVLAPA VDAVASKCEN LHSKLIVSEN
210 220 230 240 250
SREGWGNLKE LMKHASDSHT CVKTKHNEIM AIFFTSGTSG YPKMTAHTHS
260 270 280 290 300
SFGLGLSVNG RFWLDLTPSD VMWNTSDTGW AKSAWSSVFS PWIQGACVFT
310 320 330 340 350
HHLPRFEPTS ILQTLSKYPI TVFCSAPTVY RMLVQNDITS YKFKSLKHCV
360 370 380 390 400
SAGEPITPDV TEKWRNKTGL DIYEGYGQTE TVLICGNFKG MKIKPGSMGK
410 420 430 440 450
PSPAFDVKIV DVNGNVLPPG QEGDIGIQVL PNRPFGLFTH YVDNPSKTAS
460 470 480 490 500
TLRGNFYITG DRGYMDKDGY FWFVARADDV ILSSGYRIGP FEVENALNEH
510 520 530 540 550
PSVAESAVVS SPDPIRGEVV KAFVVLNPDY KSHDQEQLIK EIQEHVKKTT
560 570 580
APYKYPRKVE FIQELPKTIS GKTKRNELRK KEWKTI
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. Curated
The sequence BAA03853.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAA56369.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti132 – 1321E → R in BAA03853 (PubMed:7907320).Curated
Sequence conflicti237 – 2371G → A in BAA03853 (PubMed:7907320).Curated
Sequence conflicti245 – 2451T → S in BAA03853 (PubMed:7907320).Curated
Sequence conflicti407 – 4071V → D in BAD96859 (Ref. 4) Curated
Sequence conflicti463 – 4631G → A in BAA03853 (PubMed:7907320).Curated
Sequence conflicti569 – 5691I → V in BAA03853 (PubMed:7907320).Curated

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. 2 PublicationsVSP_028395Add
BLAST
Alternative sequencei439 – 586148Missing in isoform 2. 2 PublicationsVSP_028396Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ53FZ2.
SMRiQ53FZ2. Positions 54-584.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiQ53FZ2.

Polymorphism and mutation databases

BioMutaiACSM3.
DMDMi158706483.

Proteomic databases

MaxQBiQ53FZ2.
PaxDbiQ53FZ2.
PRIDEiQ53FZ2.

Protocols and materials databases

DNASUi6296.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi6296.
GeneCardsiGC16P020683.
H-InvDBHIX0079728.
HIX0079834.
HGNCiHGNC:10522. ACSM3.
HPAiHPA041013.
MIMi145505. gene.
neXtProtiNX_Q53FZ2.
PharmGKBiPA34930.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0365.
GeneTreeiENSGT00760000119178.
HOGENOMiHOG000229982.
HOVERGENiHBG053031.
InParanoidiQ53FZ2.
KOiK01896.
OMAiTYPVGHL.
OrthoDBiEOG7D85VZ.
PhylomeDBiQ53FZ2.
TreeFamiTF354287.

Miscellaneous databases

ChiTaRSiACSM3. human.
GeneWikiiACSM3.
GenomeRNAii6296.
NextBioi24443.
PROiQ53FZ2.
SOURCEiSearch...

Gene expression databases

BgeeiQ53FZ2.
CleanExiHS_ACSM3.
ExpressionAtlasiQ53FZ2. baseline and differential.
GenevestigatoriQ53FZ2.

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]
ProtoNetiSearch...

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. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  8. 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: April 29, 2015
This is version 90 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.Curated

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

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 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.