APOOL apolipoprotein O like [Homo sapiens (human)] - Gene

Summary

Official Symbol: APOOLprovided by HGNC
Official Full Name: apolipoprotein O likeprovided by HGNC
Primary source: HGNC:HGNC:24009
See related: Ensembl:ENSG00000155008 MIM:300955; AllianceGenome:HGNC:24009
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: Mic27; CXorf33; FAM121A; MICOS27; UNQ8193
Summary: This gene encodes a protein which contains an apolipoprotein O superfamily domain. This domain is found on proteins in circulating lipoprotein complexes. [provided by RefSeq, Sep 2011]
Expression: Ubiquitous expression in brain (RPKM 7.7), thyroid (RPKM 6.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq21.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (85003877..85093315)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (83432345..83522274)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (84258883..84348321)

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
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?

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.
APOOL is a cardiolipin-binding component of the Mitofilin/MINOS protein complex.
Title: APOOL is a cardiolipin-binding constituent of the Mitofilin/MINOS protein complex determining cristae morphology in mammalian mitochondria.

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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Markers

SHGC-63599 (e-PCR)
- UniSTS:44546

DXS8341 (e-PCR)
- UniSTS:23336

AL022453 (e-PCR)
- UniSTS:69431

D15S1477 (e-PCR)
- UniSTS:474482

NoName (e-PCR)
- UniSTS:484228

DXS6994E (e-PCR)
- UniSTS:42135

DXS326 (e-PCR)
- UniSTS:99243

SHGC-33825 (e-PCR)
- UniSTS:39605

A006S21 (e-PCR)
- UniSTS:16349

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	NAS Non-traceable Author Statement more info	PubMed
involved_in inner mitochondrial membrane organization	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
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 extracellular region	TAS Traceable Author Statement more info
located_in mitochondrial crista junction	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: MICOS complex subunit MIC27

Names: AAIR8193; family with sequence similarity 121A; mitochondrial contact site and cristae organizing system subunit 27

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.