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Protein

Acyl-coenzyme A synthetase ACSM6, mitochondrial

Gene

ACSM6

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

Functioni

Catalytic activityi

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

Cofactori

Mg2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei453ATPBy similarity1
Binding sitei468ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi226 – 234ATPBy similarity9
Nucleotide bindingi366 – 371ATPBy similarity6

GO - Molecular functioni

GO - Biological processi

  • acyl-CoA metabolic process Source: GO_Central
  • fatty acid biosynthetic process Source: GO_Central
  • positive regulation of protein targeting to mitochondrion Source: ParkinsonsUK-UCL
  • regulation of protein stability Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism

Keywords - Ligandi

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

Enzyme and pathway databases

BioCyciZFISH:HS16174-MONOMER.
ReactomeiR-HSA-77352. Beta oxidation of butanoyl-CoA to acetyl-CoA.

Names & Taxonomyi

Protein namesi
Recommended name:
Acyl-coenzyme A synthetase ACSM6, mitochondrial (EC:6.2.1.2)
Alternative name(s):
Acyl-CoA synthetase medium-chain family member 6
Gene namesi
Name:ACSM6
Synonyms:C10orf129
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:31665. ACSM6.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000173124.
PharmGKBiPA134905303.

Polymorphism and mutation databases

BioMutaiACSM6.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 21MitochondrionSequence analysisAdd BLAST21
ChainiPRO_000033711222 – 480Acyl-coenzyme A synthetase ACSM6, mitochondrialAdd BLAST459

Proteomic databases

PaxDbiQ6P461.
PRIDEiQ6P461.

PTM databases

iPTMnetiQ6P461.
PhosphoSitePlusiQ6P461.

Expressioni

Gene expression databases

BgeeiENSG00000173124.
CleanExiHS_C10orf129.
ExpressionAtlasiQ6P461. baseline and differential.

Organism-specific databases

HPAiHPA044593.

Interactioni

Subunit structurei

Monomer.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000340296.

Structurei

3D structure databases

ProteinModelPortaliQ6P461.
SMRiQ6P461.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1175. Eukaryota.
COG0365. LUCA.
GeneTreeiENSGT00760000119178.
HOGENOMiHOG000229982.
HOVERGENiHBG053031.
InParanoidiQ6P461.
KOiK01896.
OMAiSILSDTC.
OrthoDBiEOG091G03NW.
PhylomeDBiQ6P461.
TreeFamiTF354287.

Family and domain databases

InterProiIPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamiPF00501. AMP-binding. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6P461-1) [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
MLGRFQPFSL VRSFRLGFEA CCYPNQKCAT QTIRPPDSRC LVQAVSQNFN
60 70 80 90 100
FAKDVLDQWS QLEKDGLRGP YPALWKVSAK GEEDKWSFER MTQLSKKAAS
110 120 130 140 150
ILSDTCALSH GDRLMIILPP TPEAYWICLA CVRLGITFVP GSPQLTAKKI
160 170 180 190 200
RYQLRMSKAQ CIVANEAMAP VVNSAVSDCP TLKTKLLVSD KSYDGWLDFK
210 220 230 240 250
KLIQVAPPKQ TYMRTKSQDP MAIFFTKGTT GAPKMVEYSQ YGLGMGFSQA
260 270 280 290 300
SRRWMDLQPT DVLWSLGDAF GGSLSLSAVL GTWFQGACVF LCHMPTFCPE
310 320 330 340 350
TVLNVLSRFP ITTLSANPEM YQELLQHKCF TSYRFKSLKQ CVAAGGPISP
360 370 380 390 400
GVIEDWKRIT KLDIYEGYGQ TETGLLCATS KTIKLKPSSL GKPLPPYIVQ
410 420 430 440 450
IVDENSNLLP PGEEGNIAIR IKLNQPASLY CPHMVSWEEY ASARGHMLYL
460 470 480
TGDRGIMDED GYFWWSGRVD DVANALGQRL
Length:480
Mass (Da):53,585
Last modified:April 20, 2010 - v3
Checksum:iE33F51846DBB8253
GO
Isoform 2 (identifier: Q6P461-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-155: Missing.
     332-341: SYRFKSLKQC → RVYSVPLPKQ
     342-480: Missing.

Note: No experimental confirmation available.
Show »
Length:186
Mass (Da):20,652
Checksum:i93323F48E79B68D7
GO
Isoform 3 (identifier: Q6P461-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     65-65: D → DNGLQLHPCCCKRQDFILFHGVIFHVD

Note: No experimental confirmation available.
Show »
Length:506
Mass (Da):56,608
Checksum:iE96BD6FED71EFCD9
GO

Sequence cautioni

The sequence AAI04211 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI04212 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI12989 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH72344 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06309019E → G.1 PublicationCorresponds to variant rs591157dbSNPEnsembl.1
Natural variantiVAR_06309140C → S.1 PublicationCorresponds to variant rs11188225dbSNPEnsembl.1
Natural variantiVAR_043606227K → R.Corresponds to variant rs7090248dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0339081 – 155Missing in isoform 2. 1 PublicationAdd BLAST155
Alternative sequenceiVSP_03390965D → DNGLQLHPCCCKRQDFILFH GVIFHVD in isoform 3. 1 Publication1
Alternative sequenceiVSP_033910332 – 341SYRFKSLKQC → RVYSVPLPKQ in isoform 2. 1 Publication10
Alternative sequenceiVSP_033911342 – 480Missing in isoform 2. 1 PublicationAdd BLAST139

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK126134 mRNA. Translation: BAC86458.1.
AL157834 Genomic DNA. Translation: CAH72344.1. Sequence problems.
BC063654 mRNA. Translation: AAH63654.1.
BC104210 mRNA. Translation: AAI04211.1. Different initiation.
BC104211 mRNA. Translation: AAI04212.1. Different initiation.
BC112988 mRNA. Translation: AAI12989.1. Different initiation.
CCDSiCCDS7440.2. [Q6P461-1]
RefSeqiNP_997204.2. NM_207321.2. [Q6P461-1]
UniGeneiHs.134229.

Genome annotation databases

EnsembliENST00000341686; ENSP00000340296; ENSG00000173124. [Q6P461-1]
ENST00000394005; ENSP00000377573; ENSG00000173124. [Q6P461-1]
GeneIDi142827.
KEGGihsa:142827.
UCSCiuc001kke.4. human. [Q6P461-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK126134 mRNA. Translation: BAC86458.1.
AL157834 Genomic DNA. Translation: CAH72344.1. Sequence problems.
BC063654 mRNA. Translation: AAH63654.1.
BC104210 mRNA. Translation: AAI04211.1. Different initiation.
BC104211 mRNA. Translation: AAI04212.1. Different initiation.
BC112988 mRNA. Translation: AAI12989.1. Different initiation.
CCDSiCCDS7440.2. [Q6P461-1]
RefSeqiNP_997204.2. NM_207321.2. [Q6P461-1]
UniGeneiHs.134229.

3D structure databases

ProteinModelPortaliQ6P461.
SMRiQ6P461.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000340296.

PTM databases

iPTMnetiQ6P461.
PhosphoSitePlusiQ6P461.

Polymorphism and mutation databases

BioMutaiACSM6.

Proteomic databases

PaxDbiQ6P461.
PRIDEiQ6P461.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341686; ENSP00000340296; ENSG00000173124. [Q6P461-1]
ENST00000394005; ENSP00000377573; ENSG00000173124. [Q6P461-1]
GeneIDi142827.
KEGGihsa:142827.
UCSCiuc001kke.4. human. [Q6P461-1]

Organism-specific databases

CTDi142827.
GeneCardsiACSM6.
HGNCiHGNC:31665. ACSM6.
HPAiHPA044593.
neXtProtiNX_Q6P461.
OpenTargetsiENSG00000173124.
PharmGKBiPA134905303.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1175. Eukaryota.
COG0365. LUCA.
GeneTreeiENSGT00760000119178.
HOGENOMiHOG000229982.
HOVERGENiHBG053031.
InParanoidiQ6P461.
KOiK01896.
OMAiSILSDTC.
OrthoDBiEOG091G03NW.
PhylomeDBiQ6P461.
TreeFamiTF354287.

Enzyme and pathway databases

BioCyciZFISH:HS16174-MONOMER.
ReactomeiR-HSA-77352. Beta oxidation of butanoyl-CoA to acetyl-CoA.

Miscellaneous databases

GenomeRNAii142827.
PROiQ6P461.

Gene expression databases

BgeeiENSG00000173124.
CleanExiHS_C10orf129.
ExpressionAtlasiQ6P461. baseline and differential.

Family and domain databases

InterProiIPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamiPF00501. AMP-binding. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiACSM6_HUMAN
AccessioniPrimary (citable) accession number: Q6P461
Secondary accession number(s): A4FU95
, A4IF38, Q5VZX2, Q6ZTX1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: April 20, 2010
Last modified: November 30, 2016
This is version 84 of the entry and version 3 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 10
    Human chromosome 10: 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.