Sign in to NCBI
Format

Send to:

Choose Destination

OXSM 3-oxoacyl-ACP synthase, mitochondrial [ Homo sapiens (human) ]

Gene ID: 54995, updated on 4-Jul-2021

Summary

Go to the top of the page Help
Official Symbol
OXSMprovided by HGNC
Official Full Name
3-oxoacyl-ACP synthase, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:26063
See related
Ensembl:ENSG00000151093 MIM:610324
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KS; CEM1; KASI; FASN2D
Summary
This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]
Expression
Ubiquitous expression in testis (RPKM 3.3), thyroid (RPKM 1.6) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See OXSM in Genome Data Viewer
Location:
3p24.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (25788283..25794534)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (25831581..25836022)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene N-glycanase 1 Neighboring gene ribosomal protein L32 pseudogene 11 Neighboring gene TATA-box binding protein associated factor 9b pseudogene 1 Neighboring gene uncharacterized LOC105377000 Neighboring gene long intergenic non-protein coding RNA 692

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Cloning, expression, and characterization of the human mitochondrial beta-ketoacyl synthase. Complementation of the yeast CEM1 knock-out strain. Zhang L, et al. J Biol Chem, 2005 Apr 1. PMID 15668256
  2. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. Basei FL, et al. Proteome Sci, 2015. PMID 25798074, Free PMC Article
  3. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article
  5. Genetic and Proteomic Interrogation of Lower Confidence Candidate Genes Reveals Signaling Networks in β-Catenin-Active Cancers. Rosenbluh J, et al. Cell Syst, 2016 Sep 28. PMID 27684187, Free PMC Article

See all (20) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  2. characterization of the human mitochondrial beta-ketoacyl synthase
    Title: Cloning, expression, and characterization of the human mitochondrial beta-ketoacyl synthase. Complementation of the yeast CEM1 knock-out strain.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ20604

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3-oxoacyl-[acyl-carrier-protein] synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables 3-oxoacyl-[acyl-carrier-protein] synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in acyl-CoA metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in medium-chain fatty acid biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in short-chain fatty acid biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial
Names
3-ketoacyl-acyl carrier protein synthase
3-oxoacyl-acyl-carrier-protein synthase
acyl-malonyl acyl carrier protein-condensing enzyme
beta-ketoacyl synthase
beta-ketoacyl-ACP synthase
type II mitochondrial beta-ketoacyl synthase
NP_001138863.1
NP_060367.1
XP_006713279.1
XP_006713280.1
XP_016862203.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001145391.2 → NP_001138863.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment in the coding region compared to variant 1. Isoform 2 is shorter than isoform 1.
    Source sequence(s)
    AK225260, DA916187
    Consensus CDS
    CCDS46780.1
    UniProtKB/Swiss-Prot
    Q9NWU1
    Related
    ENSP00000411303.2, ENST00000420173.2
    Conserved Domains (2) summary
    cd00834
    Location:42 → 373
    KAS_I_II; Beta-ketoacyl-acyl carrier protein (ACP) synthase (KAS), type I and II. KASs are responsible for the elongation steps in fatty acid biosynthesis. KASIII catalyses the initial condensation and KAS I and II catalyze further elongation steps by Claisen ...
    TIGR03150
    Location:42 → 372
    fabF; beta-ketoacyl-acyl-carrier-protein synthase II

  2. NM_017897.3 → NP_060367.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_060367.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK000611, DA916187
    Consensus CDS
    CCDS2643.1
    UniProtKB/Swiss-Prot
    Q9NWU1
    UniProtKB/TrEMBL
    A0A024R2Q9
    Related
    ENSP00000280701.3, ENST00000280701.8
    Conserved Domains (1) summary
    TIGR03150
    Location:42 → 455
    fabF; beta-ketoacyl-acyl-carrier-protein synthase II

RNA

  1. NR_026937.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK000611, AK304821
    Related
    ENST00000448177.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    25788283..25794534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006714.2 → XP_016862203.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    B4E3Q7
    Conserved Domains (1) summary
    cd00834
    Location:1 → 181
    KAS_I_II; Beta-ketoacyl-acyl carrier protein (ACP) synthase (KAS), type I and II. KASs are responsible for the elongation steps in fatty acid biosynthesis. KASIII catalyses the initial condensation and KAS I and II catalyze further elongation steps by Claisen ...

  2. XM_006713216.4 → XP_006713279.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_006713279.1

    UniProtKB/Swiss-Prot
    Q9NWU1
    UniProtKB/TrEMBL
    A0A024R2Q9
    Conserved Domains (1) summary
    TIGR03150
    Location:42 → 455
    fabF; beta-ketoacyl-acyl-carrier-protein synthase II

  3. XM_006713217.4 → XP_006713280.1  3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_006713280.1

    UniProtKB/TrEMBL
    B4E3Q7
    Conserved Domains (1) summary
    cd00834
    Location:1 → 181
    KAS_I_II; Beta-ketoacyl-acyl carrier protein (ACP) synthase (KAS), type I and II. KASs are responsible for the elongation steps in fatty acid biosynthesis. KASIII catalyses the initial condensation and KAS I and II catalyze further elongation steps by Claisen ...
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NWU1.1 GenPept UniProtKB/Swiss-Prot:Q9NWU1

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous
You are here: NCBI > Genes & Expression > Gene
Support Center