DBI diazepam binding inhibitor, acyl-CoA binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: DBIprovided by HGNC
Official Full Name: diazepam binding inhibitor, acyl-CoA binding proteinprovided by HGNC
Primary source: HGNC:HGNC:2690
See related: Ensembl:ENSG00000155368 MIM:125950; AllianceGenome:HGNC:2690
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EP; ACBP; ACBD1; CCK-RP
Summary: This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in prostate (RPKM 97.8), liver (RPKM 93.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q14.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (119366977..119372543)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (119800515..119806082)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (120124553..120130119)

Chromosome 2 - NC_000002.12 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

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Acyl-coenzyme a binding protein (ACBP) - a risk factor for cancer diagnosis and an inhibitor of immunosurveillance.
Title: Acyl-coenzyme a binding protein (ACBP) - a risk factor for cancer diagnosis and an inhibitor of immunosurveillance.
Acyl coenzyme A binding protein (ACBP): An aging- and disease-relevant "autophagy checkpoint".
Title: Acyl coenzyme A binding protein (ACBP): An aging- and disease-relevant "autophagy checkpoint".
Targeting fatty acid oxidation via Acyl-CoA binding protein hinders glioblastoma invasion.
Title: Targeting fatty acid oxidation via Acyl-CoA binding protein hinders glioblastoma invasion.
Acyl-CoA binding protein (ACBP) is highly expressed in the developing human kidney.
Title: Acyl-CoA binding protein (ACBP) is highly expressed in the developing human kidney.
Serum DBI and biomarkers of neuroinflammation in Alzheimer's disease and delirium.
Title: Serum DBI and biomarkers of neuroinflammation in Alzheimer's disease and delirium.
Acyl-CoA-Binding Protein Is a Lipogenic Factor that Triggers Food Intake and Obesity.
Title: Acyl-CoA-Binding Protein Is a Lipogenic Factor that Triggers Food Intake and Obesity.
By subgrouping individuals with ASD based on clinical phenotypes, and then performing an integrated transcriptome-proteome analysis, we identified DBI as a novel candidate protein for ASD with severe language impairment.
Title: Phenotypic subgrouping and multi-omics analyses reveal reduced diazepam-binding inhibitor (DBI) protein levels in autism spectrum disorder with severe language impairment.
was no significant difference in the rs2276596 genotype and allele frequencies of the DBI gene between these psychoses and healthy controls
Title: No Relationships between Psychosis and the Diazepam Binding Inhibitor rs2276596 (C/A) Polymorphism in Japanese: An Exploratory Study.
ACBP increases the activity of ceramide synthase 2 (CerS2) by more than 2-fold and CerS3 activity by 7-fold. ACBP binds very-long-chain acyl-CoA esters, which is required for its ability to stimulate CerS activity.
Title: Regulation of very-long acyl chain ceramide synthesis by acyl-CoA-binding protein.
Serum endozepine-4 levels are increased in hepatic coma.
Title: Endozepine-4 levels are increased in hepatic coma.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

GDB:181242 (e-PCR)
- UniSTS:155210

D2S1604E (e-PCR)
- UniSTS:13399

WI-18848 (e-PCR)
- UniSTS:58284

D2S2591 (e-PCR)
- UniSTS:43995

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables benzodiazepine receptor binding	TAS Traceable Author Statement more info	PubMed
enables fatty-acyl-CoA binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables long-chain fatty acyl-CoA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in fatty acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein lipidation	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylcholine acyl-chain remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of CoA-transferase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phospholipid transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in perinuclear endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
part_of protein-lipid complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: acyl-CoA-binding protein

Names: GABA receptor modulator; acyl coenzyme A binding protein; acyl-Coenzyme A binding domain containing 1; cholecystokinin-releasing peptide, trypsin-sensitive; diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein); diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein); diazepam-binding inhibitor; endozepine; epididymis secretory sperm binding protein

NP_001073331.1

EC 3.4.17.3

NP_001073332.1

EC 3.4.17.3

NP_001171488.1

EC 3.4.17.3

NP_001171512.1

EC 3.4.17.3

NP_001171513.1

EC 3.4.17.3

NP_001171514.1

EC 3.4.17.3

NP_001269562.1

EC 3.4.17.3

NP_001269563.1

EC 3.4.17.3

NP_001269564.1

EC 3.4.17.3

NP_001269565.1

EC 3.4.17.3

NP_001339361.1

EC 3.4.17.3

NP_065438.1

EC 3.4.17.3

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_001079862.4 → NP_001073331.1 acyl-CoA-binding protein isoform 3

See identical proteins and their annotated locations for NP_001073331.1

Status: REVIEWED

Source sequence(s)

AC016736

Consensus CDS

CCDS42740.1

UniProtKB/Swiss-Prot

B8ZWD2, B8ZWD6, B8ZWD7, P07108, P08869, Q4VWZ6, Q53SQ7, Q6IB48, Q9UCI8

Related

ENSP00000348116.3, ENST00000355857.8

Conserved Domains (1) summary

cd00435
Location:2 → 86

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...
NM_001079863.3 → NP_001073332.1 acyl-CoA-binding protein isoform 2

See identical proteins and their annotated locations for NP_001073332.1

Status: REVIEWED

Source sequence(s)

AC016736

Consensus CDS

CCDS42741.1

UniProtKB/Swiss-Prot

P07108

Related

ENSP00000376815.2, ENST00000393103.2

Conserved Domains (1) summary

cd00435
Location:5 → 87

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...
NM_001178017.3 → NP_001171488.1 acyl-CoA-binding protein isoform 4

See identical proteins and their annotated locations for NP_001171488.1

Status: REVIEWED

Source sequence(s)

AC016736

Consensus CDS

CCDS54391.1

UniProtKB/Swiss-Prot

P07108

Related

ENSP00000486361.1, ENST00000627305.2

Conserved Domains (1) summary

cd00435
Location:74 → 147

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...
NM_001178041.4 → NP_001171512.1 acyl-CoA-binding protein isoform 5

See identical proteins and their annotated locations for NP_001171512.1

Status: REVIEWED

Source sequence(s)

AC016736

Consensus CDS

CCDS54390.1

UniProtKB/Swiss-Prot

P07108

Related

ENSP00000486281.1, ENST00000627093.2

Conserved Domains (1) summary

cd00435
Location:55 → 128

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...
NM_001178042.4 → NP_001171513.1 acyl-CoA-binding protein isoform 1

See identical proteins and their annotated locations for NP_001171513.1

Status: REVIEWED

Source sequence(s)

AC016736

Consensus CDS

CCDS2126.1

UniProtKB/TrEMBL

A0A024RAF2

Conserved Domains (1) summary

cd00435
Location:30 → 103

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...
NM_001178043.4 → NP_001171514.1 acyl-CoA-binding protein isoform 6

See identical proteins and their annotated locations for NP_001171514.1

Status: REVIEWED

Source sequence(s)

AC016736

Consensus CDS

CCDS74568.1

UniProtKB/TrEMBL

B8ZWD1

Related

ENSP00000442917.2, ENST00000535617.5

Conserved Domains (1) summary

cd00435
Location:23 → 96

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...
NM_001282633.3 → NP_001269562.1 acyl-CoA-binding protein isoform 1

See identical proteins and their annotated locations for NP_001269562.1

Status: REVIEWED

Source sequence(s)

AC016736

Consensus CDS

CCDS2126.1

UniProtKB/TrEMBL

A0A024RAF2

Related

ENSP00000439012.1, ENST00000535757.5

Conserved Domains (1) summary

cd00435
Location:30 → 103

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...
NM_001282634.3 → NP_001269563.1 acyl-CoA-binding protein isoform 1

See identical proteins and their annotated locations for NP_001269563.1

Status: REVIEWED

Source sequence(s)

AC016736

Consensus CDS

CCDS2126.1

UniProtKB/TrEMBL

A0A024RAF2

Related

ENSP00000386486.1, ENST00000409094.5

Conserved Domains (1) summary

cd00435
Location:30 → 103

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...
NM_001282635.3 → NP_001269564.1 acyl-CoA-binding protein isoform 1

See identical proteins and their annotated locations for NP_001269564.1

Status: REVIEWED

Source sequence(s)

AC016736

Consensus CDS

CCDS2126.1

UniProtKB/TrEMBL

A0A024RAF2

Related

ENSP00000311117.4, ENST00000311521.8

Conserved Domains (1) summary

cd00435
Location:30 → 103

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...
NM_001282636.3 → NP_001269565.1 acyl-CoA-binding protein isoform 7

See identical proteins and their annotated locations for NP_001269565.1

Status: REVIEWED

Source sequence(s)

AC016736

UniProtKB/TrEMBL

B8ZWD8

Conserved Domains (1) summary

cl00221
Location:1 → 62

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...
NM_001352432.3 → NP_001339361.1 acyl-CoA-binding protein isoform 7

Status: REVIEWED

Source sequence(s)

AC016736

UniProtKB/TrEMBL

B8ZWD8

Related

ENST00000460901.1

Conserved Domains (1) summary

cl00221
Location:1 → 62

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...
NM_020548.9 → NP_065438.1 acyl-CoA-binding protein isoform 1

See identical proteins and their annotated locations for NP_065438.1

Status: REVIEWED

Source sequence(s)

AC016736

Consensus CDS

CCDS2126.1

UniProtKB/TrEMBL

A0A024RAF2

Conserved Domains (1) summary

cd00435
Location:30 → 103

ACBP; Acyl CoA binding protein (ACBP) binds thiol esters of long fatty acids and coenzyme A in a one-to-one binding mode with high specificity and affinity. Acyl-CoAs are important intermediates in fatty lipid synthesis and fatty acid degradation and play a ...