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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)

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

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