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    ACSM5 acyl-CoA synthetase medium chain family member 5 [ Homo sapiens (human) ]

    Gene ID: 54988, updated on 2-May-2024

    Summary

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    Official Symbol
    ACSM5provided by HGNC
    Official Full Name
    acyl-CoA synthetase medium chain family member 5provided by HGNC
    Primary source
    HGNC:HGNC:26060
    See related
    Ensembl:ENSG00000183549 MIM:614361; AllianceGenome:HGNC:26060
    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
    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. Predicted to be active in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in liver (RPKM 53.9), fat (RPKM 14.6) and 1 other tissue See more
    Orthologs
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    Genomic context

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    See ACSM5 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (20409534..20441336)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (20340542..20372354)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20420856..20452658)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uromodulin Neighboring gene protein disulfide isomerase like, testis expressed Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:20397845-20398378 Neighboring gene uncharacterized LOC105371119 Neighboring gene acyl-CoA synthetase medium chain family member 2A

    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. Integrative analysis of genome-wide DNA methylation and single-nucleotide polymorphism identified ACSM5 as a suppressor of lumbar ligamentum flavum hypertrophy. Cao Y, et al. Arthritis Res Ther, 2021 Sep 30. PMID 34593020, Free PMC Article
    2. New loci associated with kidney function and chronic kidney disease. Köttgen A, et al. Nat Genet, 2010 May. PMID 20383146, Free PMC Article
    3. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. Watkins PA, et al. J Lipid Res, 2007 Dec. PMID 17762044
    4. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. Xu XR, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11752456, Free PMC Article
    5. An atlas of genetic influences on human blood metabolites. Shin SY, et al. Nat Genet, 2014 Jun. PMID 24816252, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Integrative analysis of genome-wide DNA methylation and single-nucleotide polymorphism identified ACSM5 as a suppressor of lumbar ligamentum flavum hypertrophy.
      Title: Integrative analysis of genome-wide DNA methylation and single-nucleotide polymorphism identified ACSM5 as a suppressor of lumbar ligamentum flavum hypertrophy.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog

    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

    • FLJ20581

    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
    		  

    General protein information

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    Preferred Names
    acyl-coenzyme A synthetase ACSM5, mitochondrial
    NP_001311300.1
    NP_001311301.1
    NP_001311302.1
    NP_060358.2

    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_001324371.2 → NP_001311300.1  acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC137056
      Consensus CDS
      CCDS10585.1
      UniProtKB/Swiss-Prot
      Q6NUN0, Q96AV1, Q96CX8, Q9NWV3
      Conserved Domains (2) summary
      cd05928
      Location:49 → 577
      MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)
      COG0365
      Location:49 → 576
      Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

    2. NM_001324372.2 → NP_001311301.1  acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC137056
      Conserved Domains (2) summary
      COG0365
      Location:49 → 552
      Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]
      cl17068
      Location:49 → 552
      AFD_class_I; Adenylate forming domain, Class I superfamily

    3. NM_001324373.2 → NP_001311302.1  acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC137056, BC013753, BC016703
      Consensus CDS
      CCDS81954.1
      UniProtKB/Swiss-Prot
      Q6NUN0
      Related
      ENSP00000460112.1, ENST00000575584.5
      Conserved Domains (1) summary
      cl17068
      Location:49 → 208
      AFD_class_I; Adenylate forming domain, Class I superfamily

    4. NM_017888.3 → NP_060358.2  acyl-coenzyme A synthetase ACSM5, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_060358.2

      Status: VALIDATED

      Source sequence(s)
      AC137056, AK000588, AV648626, AV653851, AV696798, BC016703, BX505437
      Consensus CDS
      CCDS10585.1
      UniProtKB/Swiss-Prot
      Q6NUN0, Q96AV1, Q96CX8, Q9NWV3
      Related
      ENSP00000327916.4, ENST00000331849.8
      Conserved Domains (2) summary
      cd05928
      Location:49 → 577
      MACS_euk; Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM)
      COG0365
      Location:49 → 576
      Acs; Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      20409534..20441336
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      20340542..20372354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NUN0.2 GenPept UniProtKB/Swiss-Prot:Q6NUN0

    Gene LinkOut

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

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