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

    Gene ID: 84320, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 4.9), placenta (RPKM 3.6) and 25 other tissues See more
    Orthologs
    mouse all
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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
    • 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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    Related articles in PubMed

    1. Dual Role of ACBD6 in the Acylation Remodeling of Lipids and Proteins. Soupene E, et al. Biomolecules, 2022 Nov 22. PMID 36551154, Free PMC Article
    2. Characterization of an acyl-coenzyme A binding protein predominantly expressed in human primitive progenitor cells. Soupene E, et al. J Lipid Res, 2008 May. PMID 18268358, Free PMC Article
    3. Ligand binding to the ACBD6 protein regulates the acyl-CoA transferase reactions in membranes. Soupene E, et al. J Lipid Res, 2015 Oct. PMID 26290611, Free PMC Article
    4. ACBD6 protein controls acyl chain availability and specificity of the N-myristoylation modification of proteins. Soupene E, et al. J Lipid Res, 2019 Mar. PMID 30642881, Free PMC Article
    5. Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction. Soupene E, et al. PLoS One, 2020. PMID 32108178, Free PMC Article

    See all (23) citations in PubMed

    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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    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)

    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
      UniProtKB/TrEMBL
      B2RAA8

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

      UniProtKB/Swiss-Prot
      Q9BR61
      UniProtKB/TrEMBL
      B2RAA8
      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
      UniProtKB/TrEMBL
      B2RAA8

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

      UniProtKB/Swiss-Prot
      Q9BR61
      UniProtKB/TrEMBL
      B2RAA8

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

      UniProtKB/Swiss-Prot
      Q9BR61
      UniProtKB/TrEMBL
      B2RAA8

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

      UniProtKB/Swiss-Prot
      Q9BR61
      UniProtKB/TrEMBL
      B2RAA8

    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
      UniProtKB/TrEMBL
      B2RAA8

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

      UniProtKB/Swiss-Prot
      Q9BR61
      UniProtKB/TrEMBL
      B2RAA8

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

      UniProtKB/Swiss-Prot
      Q9BR61
      UniProtKB/TrEMBL
      B2RAA8

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

      UniProtKB/Swiss-Prot
      Q9BR61
      UniProtKB/TrEMBL
      B2RAA8

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

      UniProtKB/Swiss-Prot
      Q9BR61
      UniProtKB/TrEMBL
      B2RAA8

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

      UniProtKB/Swiss-Prot
      Q9BR61
      UniProtKB/TrEMBL
      B2RAA8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BR61.1 GenPept UniProtKB/Swiss-Prot:Q9BR61

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