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ACBD6 acyl-CoA binding domain containing 6 [ Homo sapiens (human) ]

Gene ID: 84320, updated on 2-Nov-2024

Summary

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Official Symbol
ACBD6provided by HGNC
Official Full Name
acyl-CoA binding domain containing 6provided by HGNC
Primary source
HGNC:HGNC:23339
See related
Ensembl:ENSG00000230124 MIM:616352; AllianceGenome:HGNC:23339
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
NEDPM
Summary
Enables fatty-acyl-CoA binding activity. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 4.9), placenta (RPKM 3.6) and 25 other tissues See more
Orthologs
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Genomic context

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See ACBD6 in Genome Data Viewer
Location:
1q25.2-q25.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (180269653..180502577, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (179625056..179857576, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (180257365..180471712, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2159 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180134845-180135502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180135503-180136160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180136161-180136816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180136817-180137474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180162034-180162705 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1382 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1383 Neighboring gene quiescin sulfhydryl oxidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1593 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180213501-180214248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180217481-180217981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180218267-180219247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180223097-180223616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180227074-180227843 Neighboring gene Sharpr-MPRA regulatory region 8966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180240649-180241576 Neighboring gene LIM homeobox 4 Neighboring gene MPRA-validated peak481 silencer Neighboring gene LHX4 antisense RNA 1 Neighboring gene MPRA-validated peak482 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:180295724-180296224 Neighboring gene MPRA-validated peak483 silencer Neighboring gene MPRA-validated peak484 silencer Neighboring gene uncharacterized LOC124904702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2162 Neighboring gene uncharacterized LOC105371637 Neighboring gene voltage dependent anion channel 1 pseudogene 4 Neighboring gene microRNA 3121 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180470119-180470634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180470635-180471150 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:180471258-180471758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2164 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:180490465-180491664 Neighboring gene uncharacterized LOC124904658 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:180540570-180541769 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:180555052-180555235 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10130 Neighboring gene ovarian adenocarcinoma amplified long non-coding RNA Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:180601022-180601522 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:180601523-180602023 Neighboring gene MPRA-validated peak486 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:180679967-180680667 Neighboring gene xenotropic and polytropic retrovirus receptor 1 Neighboring gene uncharacterized LOC124904687

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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?
  1. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
    Title: Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
  2. Dual Role of ACBD6 in the Acylation Remodeling of Lipids and Proteins.
    Title: Dual Role of ACBD6 in the Acylation Remodeling of Lipids and Proteins.
  3. ACBD6 proteins promote N-myristoylation in mammalian cells
    Title: ACBD6 protein controls acyl chain availability and specificity of the N-myristoylation modification of proteins.
  4. The acyl-CoA binding domain (ACB) and the ankyrin-repeat motifs (ANK) of ACBD6 can perform their functions independently. Interaction of ANK with NMT2 was necessary and sufficient to provide protection.
    Title: Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction.
  5. ACBD6 gene, related to acyl-CoA binding, might play momentous roles in the initiation and development of consecutive Trauma-Induced Sepsis.
    Title: Identification of genes related to consecutive trauma-induced sepsis via gene expression profiling analysis.
  6. ligand binding properties of the NMT/ACBD6 complex can explain how the NMT reaction can proceed in the presence of the very abundant competitive substrate, C(16)-CoA.
    Title: Association of NMT2 with the acyl-CoA carrier ACBD6 protects the N-myristoyltransferase reaction from palmitoyl-CoA.
  7. Findings provide evidence that the binding properties of ACBD6 are adapted to prevent its constant saturation by the very abundant C16:0-CoA and protect membrane systems.
    Title: Ligand binding to the ACBD6 protein regulates the acyl-CoA transferase reactions in membranes.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  9. ACBD6 is a modular protein that carries an acyl-CoA binding domain at its N terminus and two ankyrin motifs at its C terminus.
    Title: Characterization of an acyl-coenzyme A binding protein predominantly expressed in human primitive progenitor cells.
Submit: New GeneRIF Correction

Phenotypes

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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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC2404

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables fatty-acyl-CoA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables fatty-acyl-CoA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables lipid binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
acyl-CoA-binding domain-containing protein 6
Names
acyl-Coenzyme A binding domain containing 6

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)

  1. NM_032360.4 → NP_115736.1  acyl-CoA-binding domain-containing protein 6

    See identical proteins and their annotated locations for NP_115736.1

    Status: VALIDATED

    Source sequence(s)
    AA085012, AK314112, BU170874
    Consensus CDS
    CCDS1339.1
    UniProtKB/Swiss-Prot
    Q9BR61
    UniProtKB/TrEMBL
    B2RAA8
    Related
    ENSP00000356567.3, ENST00000367595.4
    Conserved Domains (3) summary
    cd00204
    Location:165 → 261
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:191 → 222
    ANK; ANK repeat [structural motif]
    pfam00887
    Location:44 → 123
    ACBP; Acyl CoA binding protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    180269653..180502577 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432083.1 → XP_047288039.1  acyl-CoA-binding domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BR61

  2. XM_047432080.1 → XP_047288036.1  acyl-CoA-binding domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BR61
    Related
    ENSP00000495710.1, ENST00000642319.1

  3. XM_047432082.1 → XP_047288038.1  acyl-CoA-binding domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BR61

  4. XM_047432081.1 → XP_047288037.1  acyl-CoA-binding domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BR61

  5. XM_047432085.1 → XP_047288041.1  acyl-CoA-binding domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BR61

  6. XM_047432084.1 → XP_047288040.1  acyl-CoA-binding domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BR61

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    179625056..179857576 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339188.1 → XP_054195163.1  acyl-CoA-binding domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BR61

  2. XM_054339185.1 → XP_054195160.1  acyl-CoA-binding domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BR61

  3. XM_054339187.1 → XP_054195162.1  acyl-CoA-binding domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BR61

  4. XM_054339186.1 → XP_054195161.1  acyl-CoA-binding domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BR61

  5. XM_054339190.1 → XP_054195165.1  acyl-CoA-binding domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BR61

  6. XM_054339189.1 → XP_054195164.1  acyl-CoA-binding domain-containing protein 6 isoform X1

    UniProtKB/Swiss-Prot
    Q9BR61
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BR61.1 GenPept UniProtKB/Swiss-Prot:Q9BR61

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