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Q5FVE4

- ACBG2_HUMAN

UniProt

Q5FVE4 - ACBG2_HUMAN

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Protein

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

Gene

ACSBG2

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei496 – 4961ATPBy similarity
Binding sitei624 – 6241ATPBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi230 – 2389ATPBy similarity
Nucleotide bindingi418 – 4236ATPBy similarity

GO - Molecular functioni

  1. acyl-CoA hydrolase activity Source: MGI
  2. ATP binding Source: UniProtKB-KW
  3. long-chain fatty acid-CoA ligase activity Source: MGI

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. fatty acid metabolic process Source: MGI
  3. long-chain fatty acid metabolic process Source: GOC
  4. multicellular organismal development Source: UniProtKB-KW
  5. spermatogenesis Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Ligase

Keywords - Biological processi

Differentiation, Fatty acid metabolism, Lipid metabolism, Spermatogenesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS05377-MONOMER.

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
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:24174. ACSBG2.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. cytosol Source: Ensembl
  3. membrane Source: UniProtKB-KW
  4. mitochondrion Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi511 – 5111H → R: Results in a shift of the pH optimum to a more acidic pH without affecting substrate specificity. 1 Publication

Organism-specific databases

PharmGKBiPA142672649.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 666666Long-chain-fatty-acid--CoA ligase ACSBG2PRO_0000315812Add
BLAST

Proteomic databases

PaxDbiQ5FVE4.
PRIDEiQ5FVE4.

PTM databases

PhosphoSiteiQ5FVE4.

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

BgeeiQ5FVE4.
CleanExiHS_ACSBG2.
ExpressionAtlasiQ5FVE4. baseline and differential.
GenevestigatoriQ5FVE4.

Organism-specific databases

HPAiHPA043421.
HPA051013.

Interactioni

Protein-protein interaction databases

BioGridi123551. 1 interaction.
STRINGi9606.ENSP00000252669.

Structurei

3D structure databases

ProteinModelPortaliQ5FVE4.
SMRiQ5FVE4. Positions 45-549.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1022.
GeneTreeiENSGT00690000101725.
HOVERGENiHBG054660.
InParanoidiQ5FVE4.
KOiK15013.
OMAiQMYTKKK.
OrthoDBiEOG7B5WVB.
PhylomeDBiQ5FVE4.

Family and domain databases

InterProiIPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamiPF00501. AMP-binding. 1 hit.
[Graphical view]
PROSITEiPS00455. AMP_BINDING. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti71 – 711A → P in AAQ89126. (PubMed:12975309)Curated
Sequence conflicti332 – 3321K → E in AAG49398. (PubMed:15685348)Curated
Sequence conflicti595 – 5951I → M in CAE12156. (PubMed:16762313)Curated
Sequence conflicti595 – 5951I → M in CAE12157. (PubMed:16762313)Curated
Sequence conflicti595 – 5951I → M in CAB66788. (PubMed:11230166)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti143 – 1431V → A.5 Publications
Corresponds to variant rs4807840 [ dbSNP | Ensembl ].
VAR_038317
Natural varianti152 – 1521K → R.
Corresponds to variant rs33937754 [ dbSNP | Ensembl ].
VAR_038318
Natural varianti584 – 5841G → D.1 Publication
Corresponds to variant rs17851959 [ dbSNP | Ensembl ].
VAR_038319
Natural varianti586 – 5861G → D.1 Publication
Corresponds to variant rs17851960 [ dbSNP | Ensembl ].
VAR_038320
Natural varianti601 – 6011P → R.
Corresponds to variant rs35609668 [ dbSNP | Ensembl ].
VAR_038321
Natural varianti624 – 6241R → K.1 Publication
Corresponds to variant rs17856650 [ dbSNP | Ensembl ].
VAR_038322
Natural varianti626 – 6261E → Q.1 Publication
Corresponds to variant rs17856651 [ dbSNP | Ensembl ].
VAR_038323
Natural varianti650 – 6501R → S.
Corresponds to variant rs35605352 [ dbSNP | Ensembl ].
VAR_038324

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 200200Missing in isoform 4. 1 PublicationVSP_030717Add
BLAST
Alternative sequencei1 – 187187Missing in isoform 3. 1 PublicationVSP_030718Add
BLAST
Alternative sequencei1 – 5050Missing in isoform 2. 1 PublicationVSP_030719Add
BLAST

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]
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_112186.3. NM_030924.4. [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.1. human. [Q5FVE4-1]

Polymorphism databases

DMDMi296434386.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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 .
CCDSi CCDS12159.1. [Q5FVE4-1 ]
CCDS74269.1. [Q5FVE4-3 ]
RefSeqi NP_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 ]
UniGenei Hs.465720.

3D structure databases

ProteinModelPortali Q5FVE4.
SMRi Q5FVE4. Positions 45-549.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123551. 1 interaction.
STRINGi 9606.ENSP00000252669.

PTM databases

PhosphoSitei Q5FVE4.

Polymorphism databases

DMDMi 296434386.

Proteomic databases

PaxDbi Q5FVE4.
PRIDEi Q5FVE4.

Protocols and materials databases

DNASUi 81616.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000586696 ; ENSP00000465589 ; ENSG00000130377 . [Q5FVE4-1 ]
ENST00000588304 ; ENSP00000464938 ; ENSG00000130377 . [Q5FVE4-2 ]
ENST00000588485 ; ENSP00000466336 ; ENSG00000130377 . [Q5FVE4-3 ]
ENST00000591403 ; ENSP00000467755 ; ENSG00000130377 . [Q5FVE4-1 ]
GeneIDi 81616.
KEGGi hsa:81616.
UCSCi uc002mee.1. human. [Q5FVE4-1 ]

Organism-specific databases

CTDi 81616.
GeneCardsi GC19P006135.
H-InvDB HIX0014690.
HIX0014691.
HGNCi HGNC:24174. ACSBG2.
HPAi HPA043421.
HPA051013.
MIMi 614363. gene.
neXtProti NX_Q5FVE4.
PharmGKBi PA142672649.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1022.
GeneTreei ENSGT00690000101725.
HOVERGENi HBG054660.
InParanoidi Q5FVE4.
KOi K15013.
OMAi QMYTKKK.
OrthoDBi EOG7B5WVB.
PhylomeDBi Q5FVE4.

Enzyme and pathway databases

BioCyci MetaCyc:HS05377-MONOMER.

Miscellaneous databases

ChiTaRSi ACSBG2. human.
GeneWikii ACSBG2.
GenomeRNAii 81616.
NextBioi 71958.
PROi Q5FVE4.
SOURCEi Search...

Gene expression databases

Bgeei Q5FVE4.
CleanExi HS_ACSBG2.
ExpressionAtlasi Q5FVE4. baseline and differential.
Genevestigatori Q5FVE4.

Family and domain databases

InterProi IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view ]
Pfami PF00501. AMP-binding. 1 hit.
[Graphical view ]
PROSITEi PS00455. AMP_BINDING. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-143.
    Tissue: Testis.
  4. 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. 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.

Entry informationi

Entry nameiACBG2_HUMAN
AccessioniPrimary (citable) accession number: Q5FVE4
Secondary accession number(s): B3KSF2
, Q6UWJ3, Q7Z5A0, Q8WW03, Q96M36, Q9BYZ3, Q9H0C4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 87 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

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

External Data

Dasty 3