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Protein

Long-chain-fatty-acid--CoA ligase ACSBG2

Gene

ACSBG2

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

Functioni

Mediates activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Able to activate long-chain fatty acids. Also able to activate very long-chain fatty acids; however, the relevance of such activity is unclear in vivo. Has increased ability to activate oleic and linoleic acid. May play a role in spermatogenesis.

Catalytic activityi

ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei496ATPBy similarity1
Binding sitei624ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi230 – 238ATPBy similarity9
Nucleotide bindingi418 – 423ATPBy similarity6

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, Ligase
Biological processDifferentiation, Fatty acid metabolism, Lipid metabolism, Spermatogenesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS05377-MONOMER.
BRENDAi6.2.1.3. 2681.
ReactomeiR-HSA-75876. Synthesis of very long-chain fatty acyl-CoAs.

Chemistry databases

SwissLipidsiSLP:000001212.

Names & Taxonomyi

Protein namesi
Recommended name:
Long-chain-fatty-acid--CoA ligase ACSBG2 (EC:6.2.1.3)
Alternative name(s):
Acyl-CoA synthetase bubblegum family member 2
Bubblegum-related protein
PRTD-NY3
Gene namesi
Name:ACSBG2
Synonyms:BGR
ORF Names:UNQ2443/PRO5005
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:24174. ACSBG2.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: MGI
  • cytosol Source: HPA
  • membrane Source: UniProtKB-SubCell
  • mitochondrion Source: MGI

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi511H → R: Results in a shift of the pH optimum to a more acidic pH without affecting substrate specificity. 1 Publication1

Organism-specific databases

DisGeNETi81616.
OpenTargetsiENSG00000130377.
PharmGKBiPA142672649.

Polymorphism and mutation databases

BioMutaiACSBG2.
DMDMi296434386.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003158121 – 666Long-chain-fatty-acid--CoA ligase ACSBG2Add BLAST666

Proteomic databases

PaxDbiQ5FVE4.
PeptideAtlasiQ5FVE4.
PRIDEiQ5FVE4.

PTM databases

iPTMnetiQ5FVE4.
PhosphoSitePlusiQ5FVE4.

Expressioni

Tissue specificityi

Testis-specific.3 Publications

Developmental stagei

Weakly or not expressed in fetal testis. Highly expressed in adult testis and moderately in elderly testis.1 Publication

Gene expression databases

BgeeiENSG00000130377.
CleanExiHS_ACSBG2.
ExpressionAtlasiQ5FVE4. baseline and differential.
GenevisibleiQ5FVE4. HS.

Organism-specific databases

HPAiHPA043421.
HPA051013.

Interactioni

Protein-protein interaction databases

BioGridi123551. 3 interactors.
STRINGi9606.ENSP00000252669.

Structurei

3D structure databases

ProteinModelPortaliQ5FVE4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1256. Eukaryota.
COG1022. LUCA.
GeneTreeiENSGT00690000101725.
HOVERGENiHBG054660.
InParanoidiQ5FVE4.
KOiK15013.
OMAiEIGPTYY.
OrthoDBiEOG091G03FO.
PhylomeDBiQ5FVE4.

Family and domain databases

InterProiView protein in InterPro
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
PfamiView protein in Pfam
PF00501. AMP-binding. 1 hit.
PROSITEiView protein in PROSITE
PS00455. AMP_BINDING. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5FVE4-1) [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
MTGTPKTQEG AKDLEVDMNK TEVTPRLWTT CRDGEVLLRL SKHGPGHETP
60 70 80 90 100
MTIPEFFRES VNRFGTYPAL ASKNGKKWEI LNFNQYYEAC RKAAKSLIKL
110 120 130 140 150
GLERFHGVGI LGFNSAEWFI TAVGAILAGG LCVGIYATNS AEVCQYVITH
160 170 180 190 200
AKVNILLVEN DQQLQKILSI PQSSLEPLKA IIQYRLPMKK NNNLYSWDDF
210 220 230 240 250
MELGRSIPDT QLEQVIESQK ANQCAVLIYT SGTTGIPKGV MLSHDNITWI
260 270 280 290 300
AGAVTKDFKL TDKHETVVSY LPLSHIAAQM MDIWVPIKIG ALTYFAQADA
310 320 330 340 350
LKGTLVSTLK EVKPTVFIGV PQIWEKIHEM VKKNSAKSMG LKKKAFVWAR
360 370 380 390 400
NIGFKVNSKK MLGKYNTPVS YRMAKTLVFS KVKTSLGLDH CHSFISGTAP
410 420 430 440 450
LNQETAEFFL SLDIPIGELY GLSESSGPHT ISNQNNYRLL SCGKILTGCK
460 470 480 490 500
NMLFQQNKDG IGEICLWGRH IFMGYLESET ETTEAIDDEG WLHSGDLGQL
510 520 530 540 550
DGLGFLYVTG HIKEILITAG GENVPPIPVE TLVKKKIPII SNAMLVGDKL
560 570 580 590 600
KFLSMLLTLK CEMNQMSGEP LDKLNFEAIN FCRGLGSQAS TVTEIVKQQD
610 620 630 640 650
PLVYKAIQQG INAVNQEAMN NAQRIEKWVI LEKDFSIYGG ELGPMMKLKR
660
HFVAQKYKKQ IDHMYH
Length:666
Mass (Da):74,354
Last modified:May 18, 2010 - v2
Checksum:i4EE300654EF17150
GO
Isoform 2 (identifier: Q5FVE4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.

Note: No experimental confirmation available.
Show »
Length:616
Mass (Da):68,810
Checksum:i5ECC35717120E1DF
GO
Isoform 3 (identifier: Q5FVE4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-187: Missing.

Note: No experimental confirmation available.
Show »
Length:479
Mass (Da):53,548
Checksum:i4E2AC26B3F0CC208
GO
Isoform 4 (identifier: Q5FVE4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-200: Missing.

Note: No experimental confirmation available.
Show »
Length:466
Mass (Da):51,891
Checksum:iDAB7590871FD19F4
GO

Sequence cautioni

The sequence CAE12157 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti71A → P in AAQ89126 (PubMed:12975309).Curated1
Sequence conflicti332K → E in AAG49398 (PubMed:15685348).Curated1
Sequence conflicti595I → M in CAE12156 (PubMed:16762313).Curated1
Sequence conflicti595I → M in CAE12157 (PubMed:16762313).Curated1
Sequence conflicti595I → M in CAB66788 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038317143V → A5 PublicationsCorresponds to variant dbSNP:rs4807840Ensembl.1
Natural variantiVAR_038318152K → R. Corresponds to variant dbSNP:rs33937754Ensembl.1
Natural variantiVAR_038319584G → D1 PublicationCorresponds to variant dbSNP:rs17851959Ensembl.1
Natural variantiVAR_038320586G → D1 PublicationCorresponds to variant dbSNP:rs17851960Ensembl.1
Natural variantiVAR_038321601P → R. Corresponds to variant dbSNP:rs35609668Ensembl.1
Natural variantiVAR_038322624R → K1 PublicationCorresponds to variant dbSNP:rs17856650Ensembl.1
Natural variantiVAR_038323626E → Q1 PublicationCorresponds to variant dbSNP:rs17856651Ensembl.1
Natural variantiVAR_038324650R → S. Corresponds to variant dbSNP:rs35605352Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0307171 – 200Missing in isoform 4. 1 PublicationAdd BLAST200
Alternative sequenceiVSP_0307181 – 187Missing in isoform 3. 1 PublicationAdd BLAST187
Alternative sequenceiVSP_0307191 – 50Missing in isoform 2. 1 PublicationAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY009107 mRNA. Translation: AAG49398.1.
AJ577571 mRNA. Translation: CAE12156.1.
AJ577571 mRNA. Translation: CAE12157.1. Different initiation.
AL136854 mRNA. Translation: CAB66788.1.
AY358766 mRNA. Translation: AAQ89126.1.
AK057412 mRNA. Translation: BAB71476.1.
AK093433 mRNA. Translation: BAG52714.1.
CH471139 Genomic DNA. Translation: EAW69111.1.
BC022027 mRNA. Translation: AAH22027.1.
BC090046 mRNA. Translation: AAH90046.1.
CCDSiCCDS12159.1. [Q5FVE4-1]
CCDS74269.1. [Q5FVE4-3]
CCDS82282.1. [Q5FVE4-2]
RefSeqiNP_001276106.1. NM_001289177.1. [Q5FVE4-1]
NP_001276107.1. NM_001289178.1. [Q5FVE4-1]
NP_001276108.1. NM_001289179.1.
NP_001276109.1. NM_001289180.1. [Q5FVE4-3]
NP_001308313.1. NM_001321384.1. [Q5FVE4-2]
NP_112186.3. NM_030924.4. [Q5FVE4-1]
XP_016882821.1. XM_017027332.1. [Q5FVE4-1]
UniGeneiHs.465720.

Genome annotation databases

EnsembliENST00000586696; ENSP00000465589; ENSG00000130377. [Q5FVE4-1]
ENST00000588304; ENSP00000464938; ENSG00000130377. [Q5FVE4-2]
ENST00000588485; ENSP00000466336; ENSG00000130377. [Q5FVE4-3]
ENST00000591403; ENSP00000467755; ENSG00000130377. [Q5FVE4-1]
GeneIDi81616.
KEGGihsa:81616.
UCSCiuc002mee.3. human. [Q5FVE4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.

Entry informationi

Entry nameiACBG2_HUMAN
AccessioniPrimary (citable) accession number: Q5FVE4
Secondary accession number(s): B3KSF2
, Q6UWJ3, Q7Z5A0, Q8WW03, Q96M36, Q9BYZ3, Q9H0C4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: June 7, 2017
This is version 107 of the entry and version 2 of the sequence. See 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 19
    Human chromosome 19: 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