ACSBG2 acyl-CoA synthetase bubblegum family member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACSBG2provided by HGNC
Official Full Name: acyl-CoA synthetase bubblegum family member 2provided by HGNC
Primary source: HGNC:HGNC:24174
See related: Ensembl:ENSG00000130377 MIM:614363; AllianceGenome:HGNC:24174
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BGR; BRGL; PRTDNY3; PRTD-NY3
Summary: Enables acyl-CoA hydrolase activity and arachidonate-CoA ligase activity. Acts upstream of or within fatty acid metabolic process. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis (RPKM 79.4) See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (6135633..6193091)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (6124368..6181277)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (6135644..6193102)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The limited tissue expression pattern and limited substrate specificity rule out a likely role for this enzyme in X-linked adrenoleukodystrophy pathology.
Title: The second member of the human and murine bubblegum family is a testis- and brainstem-specific acyl-CoA synthetase.
A new gene exhibiting 50-fold difference in expression level between adult and fetal human testes was cloned and named the BGR-like gene. It was exclusively expressed in testes and was a testes-specific isoform of the BGR gene.
Title: Identification and characterization of the BGR-like gene with a potential role in human testicular development/spermatogenesis.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G09501 (e-PCR)
- UniSTS:74369

RH93117 (e-PCR)
- UniSTS:84962

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables arachidonate-CoA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables fatty acyl-CoA hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables long-chain fatty acid-CoA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables long-chain fatty acid-CoA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables very long-chain fatty acid-CoA ligase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in long-chain fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in long-chain fatty-acyl-CoA biosynthetic process	TAS Traceable Author Statement more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: long-chain-fatty-acid--CoA ligase ACSBG2

Names: arachidonate--CoA ligase ACSBG2; bubblegum-related protein; testicular tissue protein Li 8

NP_001276106.1

EC 6.2.1.15

EC 6.2.1.3

NP_001276107.1

EC 6.2.1.15

EC 6.2.1.3

NP_001276108.1

EC 6.2.1.15

EC 6.2.1.3

NP_001276109.1

EC 6.2.1.15

EC 6.2.1.3

NP_001308313.1

EC 6.2.1.15

EC 6.2.1.3

NP_112186.3

EC 6.2.1.15

EC 6.2.1.3

XP_005259710.1

EC 6.2.1.15

EC 6.2.1.3

XP_011526631.1

EC 6.2.1.15

EC 6.2.1.3

XP_016882821.1

EC 6.2.1.15

EC 6.2.1.3

XP_016882822.1

EC 6.2.1.15

EC 6.2.1.3

XP_047295433.1

EC 6.2.1.15

EC 6.2.1.3

XP_047295434.1

EC 6.2.1.15

EC 6.2.1.3

XP_054178224.1

EC 6.2.1.15

EC 6.2.1.3

XP_054178225.1

EC 6.2.1.15

EC 6.2.1.3

XP_054178226.1

EC 6.2.1.15

EC 6.2.1.3

XP_054178227.1

EC 6.2.1.15

EC 6.2.1.3

XP_054178228.1

EC 6.2.1.15

EC 6.2.1.3

XP_054178229.1

EC 6.2.1.15

EC 6.2.1.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001289177.2 → NP_001276106.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform a

See identical proteins and their annotated locations for NP_001276106.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2, and 3 encode the same isoform.

Source sequence(s)

AK093433, AK302604, DB514968, HM005321, HY010944

Consensus CDS

CCDS12159.1

UniProtKB/Swiss-Prot

B3KSF2, Q5FVE4, Q6UWJ3, Q7Z5A0, Q8WW03, Q96M36, Q9BYZ3, Q9H0C4

UniProtKB/TrEMBL

A0A140VJD4, B4DYU1

Related

ENSP00000465589.1, ENST00000586696.5

Conserved Domains (1) summary

cd05933
Location:73 → 665

ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)
NM_001289178.2 → NP_001276107.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform a

See identical proteins and their annotated locations for NP_001276107.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).

Source sequence(s)

AJ577571, AK093433, BC090046, HY011431

Consensus CDS

CCDS12159.1

UniProtKB/Swiss-Prot

B3KSF2, Q5FVE4, Q6UWJ3, Q7Z5A0, Q8WW03, Q96M36, Q9BYZ3, Q9H0C4

UniProtKB/TrEMBL

A0A140VJD4, B4DYU1

Related

ENSP00000467755.1, ENST00000591403.5

Conserved Domains (1) summary

cd05933
Location:73 → 665

ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)
NM_001289179.2 → NP_001276108.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate in-frame splice site in the central coding region, compared to isoform 1. The encoded isoform (b) is shorter, compared to isoform a.

Source sequence(s)

AK302604, DB514968, HM005321, HY010944

Consensus CDS

CCDS92498.1

UniProtKB/TrEMBL

A0A7P0Z4L8, B4DYU1

Related

ENSP00000506442.1, ENST00000681525.1

Conserved Domains (2) summary

cd05933
Location:73 → 637

ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)

COG1022
Location:51 → 638

FAA1; Long-chain acyl-CoA synthetase (AMP-forming) [Lipid transport and metabolism]
NM_001289180.2 → NP_001276109.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in its 5' UTR, and uses a downstream start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AY009107, AY358766, DC399703, HM005321

UniProtKB/Swiss-Prot

Q5FVE4

Conserved Domains (1) summary

cl17068
Location:3 → 478

AFD_class_I; Adenylate forming domain, Class I superfamily
NM_001321384.2 → NP_001308313.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform d

Status: VALIDATED

Source sequence(s)

AY358766, HM005321

Consensus CDS

CCDS82282.1

UniProtKB/TrEMBL

B4DYU1

Related

ENSP00000464938.1, ENST00000588304.5

Conserved Domains (2) summary

cd05933
Location:23 → 615

ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)

COG1022
Location:1 → 616

FAA1; Long-chain acyl-CoA synthetase (AMP-forming) [Lipid transport and metabolism]
NM_030924.5 → NP_112186.3 long-chain-fatty-acid--CoA ligase ACSBG2 isoform a

See identical proteins and their annotated locations for NP_112186.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).

Source sequence(s)

AK093433, BC090046, HY011431

Consensus CDS

CCDS12159.1

UniProtKB/Swiss-Prot

B3KSF2, Q5FVE4, Q6UWJ3, Q7Z5A0, Q8WW03, Q96M36, Q9BYZ3, Q9H0C4

UniProtKB/TrEMBL

A0A140VJD4, B4DYU1

Related

ENSP00000466336.2, ENST00000588485.6

Conserved Domains (1) summary

cd05933
Location:73 → 665

ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

6135633..6193091

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017027333.2 → XP_016882822.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform X2

UniProtKB/TrEMBL

B4DYU1

Conserved Domains (2) summary

cd05933
Location:73 → 642

ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)

COG1022
Location:51 → 647

FAA1; Long-chain acyl-CoA synthetase (AMP-forming) [Lipid transport and metabolism]
XM_047439477.1 → XP_047295433.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform X3
XM_005259653.4 → XP_005259710.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform X4

UniProtKB/TrEMBL

B4DYU1

Conserved Domains (2) summary

pfam00501
Location:57 → 519

AMP-binding; AMP-binding enzyme

cl17068
Location:73 → 560

AFD_class_I; Adenylate forming domain, Class I superfamily
XM_017027332.3 → XP_016882821.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform X1

UniProtKB/Swiss-Prot

B3KSF2, Q5FVE4, Q6UWJ3, Q7Z5A0, Q8WW03, Q96M36, Q9BYZ3, Q9H0C4

UniProtKB/TrEMBL

A0A140VJD4, B4DYU1

Conserved Domains (1) summary

cd05933
Location:73 → 665

ACSBG_like; Bubblegum-like very long-chain fatty acid CoA synthetase (VL-FACS)
XM_047439478.1 → XP_047295434.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform X5
XM_011528329.2 → XP_011526631.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform X6

Conserved Domains (1) summary

cl17068
Location:38 → 458

AFD_class_I; Adenylate forming domain, Class I superfamily

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

6124368..6181277

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054322250.1 → XP_054178225.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform X2
XM_054322251.1 → XP_054178226.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform X3
XM_054322252.1 → XP_054178227.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform X4
XM_054322249.1 → XP_054178224.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform X1
XM_054322253.1 → XP_054178228.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform X5
XM_054322254.1 → XP_054178229.1 long-chain-fatty-acid--CoA ligase ACSBG2 isoform X6