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    ACSM6 acyl-CoA synthetase medium chain family member 6 [ Homo sapiens (human) ]

    Gene ID: 142827, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ACSM6provided by HGNC
    Official Full Name
    acyl-CoA synthetase medium chain family member 6provided by HGNC
    Primary source
    HGNC:HGNC:31665
    See related
    Ensembl:ENSG00000173124 AllianceGenome:HGNC:31665
    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
    C10orf129; bA310E22.3
    Summary
    Predicted to enable fatty acid ligase activity and fatty-acyl-CoA synthase activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See ACSM6 in Genome Data Viewer
    Location:
    10q23.33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (95194238..95228929)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (96073280..96108083)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (96953995..96988686)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CYP2C8 promoter Neighboring gene -8 kb enhancer of CYP2C8 Neighboring gene cytochrome P450 family 2 subfamily C member 8 Neighboring gene Sharpr-MPRA regulatory region 2936 Neighboring gene uncharacterized LOC107984257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2639 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:96961907-96962201 Neighboring gene pro-apoptotic WT1 regulator pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96987152-96987893 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:96988638-96989207 Neighboring gene Sharpr-MPRA regulatory region 8644 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr10:96990347-96990915 and GRCh37_chr10:96990916-96991485 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:97000971-97001634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:97001635-97002298 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3792 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3793 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:97020155-97020844 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:97024067-97024842 Neighboring gene PDZ and LIM domain 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2640 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3795 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:97054719-97055315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3798 Neighboring gene CRISPRi-validated cis-regulatory element chr10.3436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3799 Neighboring gene Sharpr-MPRA regulatory region 12220 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:97106670-97107322 Neighboring gene sorbin and SH3 domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2645 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3800 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:97190228-97190728 Neighboring gene Sharpr-MPRA regulatory region 10569 Neighboring gene VISTA enhancer hs2353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:97291131-97291878 Neighboring gene NANOG hESC enhancer GRCh37_chr10:97299485-97299986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:97311480-97312414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:97320711-97321473

    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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    Related articles in PubMed

    1. An integrated clinico-metabolomic model improves prediction of death in sepsis. Langley RJ, et al. Sci Transl Med, 2013 Jul 24. PMID 23884467, Free PMC Article
    2. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. Hasson SA, et al. Nature, 2013 Dec 12. PMID 24270810, Free PMC Article
    3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article
    4. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    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)

    Genotypes

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables fatty acid ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables fatty-acyl-CoA synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables medium-chain fatty acid-CoA ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in acyl-CoA metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    acyl-coenzyme A synthetase ACSM6, mitochondrial
    Names
    AMP-binding enzyme
    NP_997204.2
    XP_047280594.1
    XP_047280595.1
    XP_054220843.1
    XP_054220844.1

    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_207321.3 → NP_997204.2  acyl-coenzyme A synthetase ACSM6, mitochondrial precursor

      See identical proteins and their annotated locations for NP_997204.2

      Status: VALIDATED

      Source sequence(s)
      AK126134, BC063654, BC104211
      Consensus CDS
      CCDS7440.2
      UniProtKB/Swiss-Prot
      A4FU95, A4IF38, Q5VZX2, Q6P461, Q6ZTX1
      Related
      ENSP00000377573.3, ENST00000394005.4
      Conserved Domains (2) summary
      pfam00501
      Location:76 → 472
      AMP-binding; AMP-binding enzyme
      cl17068
      Location:45 → 480
      AFD_class_I; Adenylate forming domain, Class I superfamily

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      95194238..95228929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424639.1 → XP_047280595.1  acyl-coenzyme A synthetase ACSM6, mitochondrial isoform X1

    2. XM_047424638.1 → XP_047280594.1  acyl-coenzyme A synthetase ACSM6, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      96073280..96108083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364869.1 → XP_054220844.1  acyl-coenzyme A synthetase ACSM6, mitochondrial isoform X1

    2. XM_054364868.1 → XP_054220843.1  acyl-coenzyme A synthetase ACSM6, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P461.3 GenPept UniProtKB/Swiss-Prot:Q6P461

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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