APOO apolipoprotein O [Homo sapiens (human)] - Gene

Summary

Official Symbol: APOOprovided by HGNC
Official Full Name: apolipoprotein Oprovided by HGNC
Primary source: HGNC:HGNC:28727
See related: Ensembl:ENSG00000184831 MIM:300753; AllianceGenome:HGNC:28727
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: MIC26; Mic23; My025; FAM121B; MICOS26
Summary: This gene is a member of the apolipoprotein family. Members of this protein family are involved in the transport and metabolism of lipids. The encoded protein associates with HDL, LDL and VLDL lipoproteins and is characterized by chondroitin-sulfate glycosylation. This protein may be involved in preventing lipid accumulation in the myocardium in obese and diabetic patients. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 4, 5, 12 and 16.[provided by RefSeq, Sep 2009]
Expression: Ubiquitous expression in heart (RPKM 9.7), brain (RPKM 7.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.11

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (23833353..23907938, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (23417034..23491615, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (23851470..23926055, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes.
Title: A X-linked nonsense APOO/MIC26 variant causes a lethal mitochondrial disease with progeria-like phenotypes.
Role of apolipoprotein O in autophagy via the p38 mitogen-activated protein kinase signaling pathway in myocardial infarction.
Title: Role of apolipoprotein O in autophagy via the p38 mitogen-activated protein kinase signaling pathway in myocardial infarction.
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
Title: Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features.
MIC26 and MIC27 cooperate to regulate cardiolipin levels and the landscape of OXPHOS complexes.
Title: MIC26 and MIC27 cooperate to regulate cardiolipin levels and the landscape of OXPHOS complexes.
Loss of MICOS complex integrity and mitochondrial dysfunction, but not TDP-43 mitochondrial location, is essential for the development of severe motor neuron disease.
Title: Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases.
The human apolipoprotein MIC26 is a bona fide subunit of the MICOS complex.
Title: The non-glycosylated isoform of MIC26 is a constituent of the mammalian MICOS complex and promotes formation of crista junctions.
It is likely that apoO participates in fatty acid metabolism and the inflammatory response in HepG2 cells.
Title: Microarray analysis provides new insights into the function of apolipoprotein O in HepG2 cell line.
APOO represents a link between impaired mitochondrial function and cardiomyopathy onset, and targeting APOO-dependent metabolic remodeling has potential as a strategy to adjust heart metabolism and protect the myocardium from impaired contractility.
Title: Apolipoprotein O is mitochondrial and promotes lipotoxicity in heart.
relationships between plasma apoO levels and high-sensitive C-reactive protein (hs-CRP) levels, as well as other lipid parameters in healthy subjects and patients with established acute coronary syndrome
Title: Plasma apolipoprotein O level increased in the patients with acute coronary syndrome.
Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cristae formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cristae formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cristae formation	NAS Non-traceable Author Statement more info	PubMed
involved_in inner mitochondrial membrane organization	IC Inferred by Curator more info	PubMed
involved_in lipid transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
part_of MIB complex	HDA more info	PubMed
part_of MICOS complex	HDA more info	PubMed
part_of MICOS complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MICOS complex	IDA Inferred from Direct Assay more info	PubMed
part_of MICOS complex	NAS Non-traceable Author Statement more info	PubMed
part_of SAM complex	HDA more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of high-density lipoprotein particle	IEA Inferred from Electronic Annotation more info
part_of low-density lipoprotein particle	IEA Inferred from Electronic Annotation more info
located_in mitochondrial crista junction	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
part_of very-low-density lipoprotein particle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: MICOS complex subunit MIC26

Names: MICOS complex subunit MIC23; brain my025; family with sequence similarity 121B; mitochondrial contact site and cristae organizing system subunit 26

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.

Genomic

NG_013219.1 RefSeqGene

Range

5003..79588

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_024122.5 → NP_077027.1 MICOS complex subunit MIC26 precursor

See identical proteins and their annotated locations for NP_077027.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and is predicted to encode the functional protein.

Source sequence(s)

AC079376, BC010102

Consensus CDS

CCDS14208.1

UniProtKB/Swiss-Prot

B2R4K9, Q9BUR5, Q9H3J9

UniProtKB/TrEMBL

H7C1U8

Related

ENSP00000368528.4, ENST00000379226.9

Conserved Domains (1) summary

pfam09769
Location:54 → 177

ApoO; Apolipoprotein O

RNA

NR_026545.4 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) omits a coding exon resulting in a frameshift and premature stop codon. The transcript is likely non-coding because it is a candidate for nonsense-mediated decay (NMD); therefore, the truncated protein is not annotated.

Source sequence(s)

AC079376, AC131011, AF061264

Related

ENST00000490078.2

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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

23833353..23907938 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545587.4 → XP_011543889.1 MICOS complex subunit MIC26 isoform X3

See identical proteins and their annotated locations for XP_011543889.1

UniProtKB/TrEMBL

H7C1U8

Conserved Domains (1) summary

pfam09769
Location:18 → 141

ApoO; Apolipoprotein O
XM_024452447.2 → XP_024308215.1 MICOS complex subunit MIC26 isoform X3

UniProtKB/TrEMBL

H7C1U8

Conserved Domains (1) summary

pfam09769
Location:18 → 141

ApoO; Apolipoprotein O
XM_017029837.2 → XP_016885326.1 MICOS complex subunit MIC26 isoform X2

UniProtKB/Swiss-Prot

B2R4K9, Q9BUR5, Q9H3J9

UniProtKB/TrEMBL

H7C1U8

Related

ENSP00000402557.1, ENST00000439528.5

Conserved Domains (1) summary

pfam09769
Location:54 → 177

ApoO; Apolipoprotein O
XM_011545586.3 → XP_011543888.1 MICOS complex subunit MIC26 isoform X1

See identical proteins and their annotated locations for XP_011543888.1

UniProtKB/TrEMBL

H7C1U8

Conserved Domains (1) summary

pfam09769
Location:45 → 181

ApoO; Apolipoprotein O
XM_011545585.3 → XP_011543887.1 MICOS complex subunit MIC26 isoform X1

See identical proteins and their annotated locations for XP_011543887.1

UniProtKB/TrEMBL

H7C1U8

Conserved Domains (1) summary

pfam09769
Location:45 → 181

ApoO; Apolipoprotein O

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

23417034..23491615 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054327862.1 → XP_054183837.1 MICOS complex subunit MIC26 isoform X3
XM_054327861.1 → XP_054183836.1 MICOS complex subunit MIC26 isoform X3
XM_054327860.1 → XP_054183835.1 MICOS complex subunit MIC26 isoform X2

UniProtKB/Swiss-Prot

B2R4K9, Q9BUR5, Q9H3J9
XM_054327859.1 → XP_054183834.1 MICOS complex subunit MIC26 isoform X1
XM_054327858.1 → XP_054183833.1 MICOS complex subunit MIC26 isoform X1