Q5FVE4 (ACBG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	ACSBG2
Synonyms:	BGR
ORF Names:	UNQ2443/PRO5005

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	666 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Differentiation Fatty acid metabolism Lipid metabolism Spermatogenesis
Cellular component	Cytoplasm Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	ATP-binding Nucleotide-binding
Molecular function	Developmental protein Ligase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	membrane Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from direct assay Ref.2. Source: MGI
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW acyl-CoA hydrolase activity Inferred from direct assay Ref.2. Source: MGI long-chain fatty acid-CoA ligase activity Inferred from direct assay Ref.8. Source: MGI
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 666	666	Long-chain-fatty-acid--CoA ligase ACSBG2		PRO_0000315812
Regions
	Nucleotide binding	230 – 238	9	ATP By similarity
	Nucleotide binding	418 – 423	6	ATP By similarity
Sites
	Binding site	496	1	ATP By similarity
	Binding site	624	1	ATP By similarity
Natural variations
	Alternative sequence	1 – 200	200	Missing in isoform 4.		VSP_030717
	Alternative sequence	1 – 187	187	Missing in isoform 3.		VSP_030718
	Alternative sequence	1 – 50	50	Missing in isoform 2.		VSP_030719
	Natural variant	143	1	V → A. Ref.1 Ref.2 Ref.3 Ref.4 Ref.7 Corresponds to variant rs4807840 [ dbSNP | Ensembl ].		VAR_038317
	Natural variant	152	1	K → R. Corresponds to variant rs33937754 [ dbSNP | Ensembl ].		VAR_038318
	Natural variant	584	1	G → D. Ref.7 Corresponds to variant rs17851959 [ dbSNP | Ensembl ].		VAR_038319
	Natural variant	586	1	G → D. Ref.7 Corresponds to variant rs17851960 [ dbSNP | Ensembl ].		VAR_038320
	Natural variant	601	1	P → R. Corresponds to variant rs35609668 [ dbSNP | Ensembl ].		VAR_038321
	Natural variant	624	1	R → K. Ref.7 Corresponds to variant rs17856650 [ dbSNP | Ensembl ].		VAR_038322
	Natural variant	626	1	E → Q. Ref.7 Corresponds to variant rs17856651 [ dbSNP | Ensembl ].		VAR_038323
	Natural variant	650	1	R → S. Corresponds to variant rs35605352 [ dbSNP | Ensembl ].		VAR_038324
Experimental info
	Mutagenesis	511	1	H → R: Results in a shift of the pH optimum to a more acidic pH without affecting substrate specificity. Ref.8
	Sequence conflict	71	1	A → P in AAQ89126. Ref.4
	Sequence conflict	332	1	K → E in AAG49398. Ref.1
	Sequence conflict	595	1	I → M in CAE12156. Ref.2
	Sequence conflict	595	1	I → M in CAE12157. Ref.2
	Sequence conflict	595	1	I → M in CAB66788. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 4EE300654EF17150	FASTA	666	74,354
	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
	Isoform 2 [UniParc]. Checksum: 5ECC35717120E1DF	FASTA	616	68,810
	10 20 30 40 50 60 MTIPEFFRES VNRFGTYPAL ASKNGKKWEI LNFNQYYEAC RKAAKSLIKL GLERFHGVGI 70 80 90 100 110 120 LGFNSAEWFI TAVGAILAGG LCVGIYATNS AEVCQYVITH AKVNILLVEN DQQLQKILSI 130 140 150 160 170 180 PQSSLEPLKA IIQYRLPMKK NNNLYSWDDF MELGRSIPDT QLEQVIESQK ANQCAVLIYT 190 200 210 220 230 240 SGTTGIPKGV MLSHDNITWI AGAVTKDFKL TDKHETVVSY LPLSHIAAQM MDIWVPIKIG 250 260 270 280 290 300 ALTYFAQADA LKGTLVSTLK EVKPTVFIGV PQIWEKIHEM VKKNSAKSMG LKKKAFVWAR 310 320 330 340 350 360 NIGFKVNSKK MLGKYNTPVS YRMAKTLVFS KVKTSLGLDH CHSFISGTAP LNQETAEFFL 370 380 390 400 410 420 SLDIPIGELY GLSESSGPHT ISNQNNYRLL SCGKILTGCK NMLFQQNKDG IGEICLWGRH 430 440 450 460 470 480 IFMGYLESET ETTEAIDDEG WLHSGDLGQL DGLGFLYVTG HIKEILITAG GENVPPIPVE 490 500 510 520 530 540 TLVKKKIPII SNAMLVGDKL KFLSMLLTLK CEMNQMSGEP LDKLNFEAIN FCRGLGSQAS 550 560 570 580 590 600 TVTEIVKQQD PLVYKAIQQG INAVNQEAMN NAQRIEKWVI LEKDFSIYGG ELGPMMKLKR 610 HFVAQKYKKQ IDHMYH
	Isoform 3 [UniParc]. Checksum: 4E2AC26B3F0CC208	FASTA	479	53,548
	10 20 30 40 50 60 MKKNNNLYSW DDFMELGRSI PDTQLEQVIE SQKANQCAVL IYTSGTTGIP KGVMLSHDNI 70 80 90 100 110 120 TWIAGAVTKD FKLTDKHETV VSYLPLSHIA AQMMDIWVPI KIGALTYFAQ ADALKGTLVS 130 140 150 160 170 180 TLKEVKPTVF IGVPQIWEKI HEMVKKNSAK SMGLKKKAFV WARNIGFKVN SKKMLGKYNT 190 200 210 220 230 240 PVSYRMAKTL VFSKVKTSLG LDHCHSFISG TAPLNQETAE FFLSLDIPIG ELYGLSESSG 250 260 270 280 290 300 PHTISNQNNY RLLSCGKILT GCKNMLFQQN KDGIGEICLW GRHIFMGYLE SETETTEAID 310 320 330 340 350 360 DEGWLHSGDL GQLDGLGFLY VTGHIKEILI TAGGENVPPI PVETLVKKKI PIISNAMLVG 370 380 390 400 410 420 DKLKFLSMLL TLKCEMNQMS GEPLDKLNFE AINFCRGLGS QASTVTEIVK QQDPLVYKAI 430 440 450 460 470 QQGINAVNQE AMNNAQRIEK WVILEKDFSI YGGELGPMMK LKRHFVAQKY KKQIDHMYH
	Isoform 4 [UniParc]. Checksum: DAB7590871FD19F4	FASTA	466	51,891
	10 20 30 40 50 60 MELGRSIPDT QLEQVIESQK ANQCAVLIYT SGTTGIPKGV MLSHDNITWI AGAVTKDFKL 70 80 90 100 110 120 TDKHETVVSY LPLSHIAAQM MDIWVPIKIG ALTYFAQADA LKGTLVSTLK EVKPTVFIGV 130 140 150 160 170 180 PQIWEKIHEM VKKNSAKSMG LKKKAFVWAR NIGFKVNSKK MLGKYNTPVS YRMAKTLVFS 190 200 210 220 230 240 KVKTSLGLDH CHSFISGTAP LNQETAEFFL SLDIPIGELY GLSESSGPHT ISNQNNYRLL 250 260 270 280 290 300 SCGKILTGCK NMLFQQNKDG IGEICLWGRH IFMGYLESET ETTEAIDDEG WLHSGDLGQL 310 320 330 340 350 360 DGLGFLYVTG HIKEILITAG GENVPPIPVE TLVKKKIPII SNAMLVGDKL KFLSMLLTLK 370 380 390 400 410 420 CEMNQMSGEP LDKLNFEAIN FCRGLGSQAS TVTEIVKQQD PLVYKAIQQG INAVNQEAMN 430 440 450 460 NAQRIEKWVI LEKDFSIYGG ELGPMMKLKR HFVAQKYKKQ IDHMYH

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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.
IPI	IPI00107719. IPI00642502. IPI00879473. IPI00879891.
RefSeq	NP_112186.3. NM_030924.3.
UniGene	Hs.465720.
3D structure databases
ProteinModelPortal	Q5FVE4.
SMR	Q5FVE4. Positions 45-549.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000252669.
PTM databases
PhosphoSite	Q5FVE4.
Polymorphism databases
DMDM	296434386.
Proteomic databases
PaxDb	Q5FVE4.
PRIDE	Q5FVE4.
Protocols and materials databases
DNASU	81616.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000252669; ENSP00000252669; ENSG00000130377. ENST00000586696; ENSP00000465589; ENSG00000130377. ENST00000588304; ENSP00000464938; ENSG00000130377. ENST00000588485; ENSP00000466336; ENSG00000130377. ENST00000591403; ENSP00000467755; ENSG00000130377.
GeneID	81616.
KEGG	hsa:81616.
UCSC	uc002mee.1. human.
Organism-specific databases
CTD	81616.
GeneCards	GC19P006087.
H-InvDB	HIX0014690. HIX0014691.
HGNC	HGNC:24174. ACSBG2.
HPA	HPA043421.
MIM	614363. gene.
neXtProt	NX_Q5FVE4.
PharmGKB	PA142672649.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1022.
HOVERGEN	HBG054660.
InParanoid	Q5FVE4.
KO	K15013.
OMA	GIGEICF.
OrthoDB	EOG43R3MF.
PhylomeDB	Q5FVE4.
Gene expression databases
Bgee	Q5FVE4.
CleanEx	HS_ACSBG2.
Genevestigator	Q5FVE4.
Family and domain databases
InterPro	IPR020845. AMP-binding_CS. IPR000873. AMP-dep_Synth/Lig. [Graphical view]
Pfam	PF00501. AMP-binding. 1 hit. [Graphical view]
PROSITE	PS00455. AMP_BINDING. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ACSBG2. human.
GenomeRNAi	81616.
NextBio	71958.
SOURCE	Search...

Entry information

Entry name

ACBG2_HUMAN

Accession

Primary (citable) accession number: Q5FVE4
Secondary accession number(s): B3KSF2 , Q6UWJ3, Q7Z5A0, Q8WW03, Q96M36, Q9BYZ3, Q9H0C4

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 73 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.