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

Summary

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; AllianceGenome:HGNC:26063
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
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Genomic context

Location:: 3p24.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (25790090..25794531)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (25792856..25797297)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (25831581..25836022)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the OXSM gene: The OXSM gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 455 organisms have orthologs with human gene OXSM
Orthologs

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

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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

EC 2.3.1.41

NP_060367.1

EC 2.3.1.41

XP_006713279.1

EC 2.3.1.41

XP_006713280.1

EC 2.3.1.41

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)

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
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

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 Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

25790090..25794531

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006713216.5 → 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
XM_006713217.5 → 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 ...