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Q5FVE4 (ACBG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. 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:
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 names
Name:ACSBG2
Synonyms:BGR
ORF Names:UNQ2443/PRO5005
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length666 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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 activity

ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA. Ref.2 Ref.8

Subcellular location

Cytoplasm. Membrane; Peripheral membrane protein Ref.2 Ref.8.

Tissue specificity

Testis-specific. Ref.1 Ref.2 Ref.8

Developmental stage

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

Sequence similarities

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

Sequence caution

The sequence CAE12157.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5FVE4-1)

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: Q5FVE4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q5FVE4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-187: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q5FVE4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-200: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 666666Long-chain-fatty-acid--CoA ligase ACSBG2
PRO_0000315812

Regions

Nucleotide binding230 – 2389ATP By similarity
Nucleotide binding418 – 4236ATP By similarity

Sites

Binding site4961ATP By similarity
Binding site6241ATP By similarity

Natural variations

Alternative sequence1 – 200200Missing in isoform 4.
VSP_030717
Alternative sequence1 – 187187Missing in isoform 3.
VSP_030718
Alternative sequence1 – 5050Missing in isoform 2.
VSP_030719
Natural variant1431V → A. Ref.1 Ref.2 Ref.3 Ref.4 Ref.7
Corresponds to variant rs4807840 [ dbSNP | Ensembl ].
VAR_038317
Natural variant1521K → R.
Corresponds to variant rs33937754 [ dbSNP | Ensembl ].
VAR_038318
Natural variant5841G → D. Ref.7
Corresponds to variant rs17851959 [ dbSNP | Ensembl ].
VAR_038319
Natural variant5861G → D. Ref.7
Corresponds to variant rs17851960 [ dbSNP | Ensembl ].
VAR_038320
Natural variant6011P → R.
Corresponds to variant rs35609668 [ dbSNP | Ensembl ].
VAR_038321
Natural variant6241R → K. Ref.7
Corresponds to variant rs17856650 [ dbSNP | Ensembl ].
VAR_038322
Natural variant6261E → Q. Ref.7
Corresponds to variant rs17856651 [ dbSNP | Ensembl ].
VAR_038323
Natural variant6501R → S.
Corresponds to variant rs35605352 [ dbSNP | Ensembl ].
VAR_038324

Experimental info

Mutagenesis5111H → R: Results in a shift of the pH optimum to a more acidic pH without affecting substrate specificity. Ref.8
Sequence conflict711A → P in AAQ89126. Ref.4
Sequence conflict3321K → E in AAG49398. Ref.1
Sequence conflict5951I → M in CAE12156. Ref.2
Sequence conflict5951I → M in CAE12157. Ref.2
Sequence conflict5951I → M in CAB66788. Ref.3

Sequences

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

Last modified May 18, 2010. Version 2.
Checksum: 4EE300654EF17150

FASTA66674,354
        10         20         30         40         50         60 
MTGTPKTQEG AKDLEVDMNK TEVTPRLWTT CRDGEVLLRL SKHGPGHETP MTIPEFFRES 

        70         80         90        100        110        120 
VNRFGTYPAL ASKNGKKWEI LNFNQYYEAC RKAAKSLIKL GLERFHGVGI LGFNSAEWFI 

       130        140        150        160        170        180 
TAVGAILAGG LCVGIYATNS AEVCQYVITH AKVNILLVEN DQQLQKILSI PQSSLEPLKA 

       190        200        210        220        230        240 
IIQYRLPMKK NNNLYSWDDF MELGRSIPDT QLEQVIESQK ANQCAVLIYT SGTTGIPKGV 

       250        260        270        280        290        300 
MLSHDNITWI AGAVTKDFKL TDKHETVVSY LPLSHIAAQM MDIWVPIKIG ALTYFAQADA 

       310        320        330        340        350        360 
LKGTLVSTLK EVKPTVFIGV PQIWEKIHEM VKKNSAKSMG LKKKAFVWAR NIGFKVNSKK 

       370        380        390        400        410        420 
MLGKYNTPVS YRMAKTLVFS KVKTSLGLDH CHSFISGTAP LNQETAEFFL SLDIPIGELY 

       430        440        450        460        470        480 
GLSESSGPHT ISNQNNYRLL SCGKILTGCK NMLFQQNKDG IGEICLWGRH IFMGYLESET 

       490        500        510        520        530        540 
ETTEAIDDEG WLHSGDLGQL DGLGFLYVTG HIKEILITAG GENVPPIPVE TLVKKKIPII 

       550        560        570        580        590        600 
SNAMLVGDKL KFLSMLLTLK CEMNQMSGEP LDKLNFEAIN FCRGLGSQAS TVTEIVKQQD 

       610        620        630        640        650        660 
PLVYKAIQQG INAVNQEAMN NAQRIEKWVI LEKDFSIYGG ELGPMMKLKR HFVAQKYKKQ 


IDHMYH 

« Hide

Isoform 2 [UniParc].

Checksum: 5ECC35717120E1DF
Show »

FASTA61668,810
Isoform 3 [UniParc].

Checksum: 4E2AC26B3F0CC208
Show »

FASTA47953,548
Isoform 4 [UniParc].

Checksum: DAB7590871FD19F4
Show »

FASTA46651,891

References

« Hide 'large scale' references
[1]"Identification and characterization of the BGR-like gene with a potential role in human testicular development/spermatogenesis."
Zheng Y., Zhou Z.-M., Min X., Li J.-M., Sha J.-H.
Asian J. Androl. 7:21-32(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANT ALA-143.
Tissue: Testis.
[2]"A novel mammalian bubblegum-related acyl-CoA synthetase restricted to testes and possibly involved in spermatogenesis."
Fraisl P., Tanaka H., Forss-Petter S., Lassmann H., Nishimune Y., Berger J.
Arch. Biochem. Biophys. 451:23-33(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ENZYME ACTIVITY, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ALA-143.
Tissue: Testis.
[3]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-143.
Tissue: Testis.
[4]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ALA-143.
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
Tissue: Testis.
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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 1), VARIANTS ALA-143; ASP-584; ASP-586; LYS-624 AND GLN-626.
Tissue: Testis.
[8]"The second member of the human and murine 'bubblegum' family is a testis-and brainstem-specific acyl-CoA synthetase."
Pei Z., Jia Z., Watkins P.A.
J. Biol. Chem. 281:6632-6641(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: ENZYME ACTIVITY, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF HIS-511.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS12159.1. [Q5FVE4-1]
RefSeqNP_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_112186.3. NM_030924.4. [Q5FVE4-1]
UniGeneHs.465720.

3D structure databases

ProteinModelPortalQ5FVE4.
SMRQ5FVE4. Positions 45-549.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123551. 1 interaction.
STRING9606.ENSP00000252669.

PTM databases

PhosphoSiteQ5FVE4.

Polymorphism databases

DMDM296434386.

Proteomic databases

PaxDbQ5FVE4.
PRIDEQ5FVE4.

Protocols and materials databases

DNASU81616.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252669; ENSP00000252669; ENSG00000130377. [Q5FVE4-1]
ENST00000586696; ENSP00000465589; ENSG00000130377. [Q5FVE4-1]
ENST00000588304; ENSP00000464938; ENSG00000130377. [Q5FVE4-2]
ENST00000588485; ENSP00000466336; ENSG00000130377. [Q5FVE4-3]
ENST00000591403; ENSP00000467755; ENSG00000130377. [Q5FVE4-1]
GeneID81616.
KEGGhsa:81616.
UCSCuc002mee.1. human. [Q5FVE4-1]

Organism-specific databases

CTD81616.
GeneCardsGC19P006135.
H-InvDBHIX0014690.
HIX0014691.
HGNCHGNC:24174. ACSBG2.
HPAHPA043421.
HPA051013.
MIM614363. gene.
neXtProtNX_Q5FVE4.
PharmGKBPA142672649.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1022.
HOVERGENHBG054660.
InParanoidQ5FVE4.
KOK15013.
OMAQMYTKKK.
OrthoDBEOG7B5WVB.
PhylomeDBQ5FVE4.

Enzyme and pathway databases

BioCycMetaCyc:HS05377-MONOMER.

Gene expression databases

ArrayExpressQ5FVE4.
BgeeQ5FVE4.
CleanExHS_ACSBG2.
GenevestigatorQ5FVE4.

Family and domain databases

InterProIPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamPF00501. AMP-binding. 1 hit.
[Graphical view]
PROSITEPS00455. AMP_BINDING. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSACSBG2. human.
GeneWikiACSBG2.
GenomeRNAi81616.
NextBio71958.
PROQ5FVE4.
SOURCESearch...

Entry information

Entry nameACBG2_HUMAN
AccessionPrimary (citable) accession number: Q5FVE4
Secondary accession number(s): B3KSF2 expand/collapse secondary AC list , Q6UWJ3, Q7Z5A0, Q8WW03, Q96M36, Q9BYZ3, Q9H0C4
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 85 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 19

Human chromosome 19: entries, gene names and cross-references to MIM