SLC25A27 solute carrier family 25 member 27 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A27provided by HGNC
Official Full Name: solute carrier family 25 member 27provided by HGNC
Primary source: HGNC:HGNC:21065
See related: Ensembl:ENSG00000153291 MIM:613725; AllianceGenome:HGNC:21065
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: UCP4
Summary: Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
Expression: Broad expression in brain (RPKM 13.5), ovary (RPKM 8.8) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (46652975..46678190)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (46490625..46515839)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (46620712..46645927)

Chromosome 6 - NC_000006.12 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?

This study evaluated the occurrence of a variant of UCP4 in patients with frontotemporal dementia, Parkinson disease, and healthy controls.
Title: Uncoupling protein 4 (UCP4) gene variability in neurodegenerative disorders: further evidence of association in Frontotemporal dementia.
our results suggested DJ-1 might regulate the expression of UCP4 by oxidation of DJ-1 and partially via NF-kappaB pathway in its protective response to oxidative stress
Title: Parkinson's disease-related DJ-1 modulates the expression of uncoupling protein 4 against oxidative stress.
This study found that the variability of UCP4 does affect the individual susceptibility to Late-Onset Alzheimer's Disease.
Title: The Genetic Variability of UCP4 Affects the Individual Susceptibility to Late-Onset Alzheimer's Disease and Modifies the Disease's Risk in APOE-ɛ4 Carriers.
UCP4 mRNA of cartilage tissues was decreased in osteoarthritis patients, which was negatively correlated with synovial fluid (SF) leptin concentration.
Title: Effects of UCP4 on the Proliferation and Apoptosis of Chondrocytes: Its Possible Involvement and Regulation in Osteoarthritis.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
UCP4 is a target effector gene of the NF-kappaB c-Rel prosurvival pathway to mitigate the effects of oxidative stress.
Title: UCP4 is a target effector of the NF-κB c-Rel prosurvival pathway against oxidative stress.
Neuronal UCP4 exhibits transmembrane chloride transport activity.
Title: Toward understanding the mechanism of ion transport activity of neuronal uncoupling proteins UCP2, UCP4, and UCP5.
Findings show how UCP4 overexpression increases ATP synthesis by specifically interacting with Complex II.
Title: Uncoupling protein-4 (UCP4) increases ATP supply by interacting with mitochondrial Complex II in neuroblastoma cells.
UCP4 expression correlated with lymph node metastases, positive estrogen/progesterone receptor expression, and positivity for p53 and Ki-67 in breast carcinomas.
Title: Mitochondrial UCP4 and bcl-2 expression in imprints of breast carcinomas: relationship with DNA ploidy and classical prognostic factors.
A homozygous genetic variant of mitochondrial uncoupling protein 4 affects the occurrence of leukoaraiosis.(
Title: A homozygous genetic variant of mitochondrial uncoupling protein 4 affects the occurrence of leukoaraiosis.

Submit: New GeneRIF Correction See all GeneRIFs (19)

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of solute carrier family 25, member 27 (SLC25A27) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-18030 (e-PCR)
- UniSTS:62464

RH46727 (e-PCR)
- UniSTS:90169

SGC31026 (e-PCR)
- UniSTS:79939

SLC25A27__5432 (e-PCR)
- UniSTS:464551

RH98902 (e-PCR)
- UniSTS:88015

RH98533 (e-PCR)
- UniSTS:90326

RH103707 (e-PCR)
- UniSTS:98032

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chloride transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables proton transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in inner ear development	IEA Inferred from Electronic Annotation more info
involved_in intracellular triglyceride homeostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mitochondrial calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mitochondrial membrane potential	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of D-glucose import	IEA Inferred from Electronic Annotation more info
involved_in response to cold	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mitochondrial uncoupling protein 4

Names: UCP 4; uncoupling protein 4

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_001204051.2 → NP_001190980.1 mitochondrial uncoupling protein 4 isoform 2

See identical proteins and their annotated locations for NP_001190980.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and lacks a portion of the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AK295233, AL591242, BC033091, BP310559

UniProtKB/TrEMBL

B4DHR4

Conserved Domains (1) summary

pfam00153
Location:125 → 219

Mito_carr; Mitochondrial carrier protein
NM_001204052.2 → NP_001190981.1 mitochondrial uncoupling protein 4 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 3' UTR, compared to variant 1. The encoded protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AL591242, BC033091, BP310559, DR002070

Consensus CDS

CCDS56431.1

UniProtKB/Swiss-Prot

O95847

Related

ENSP00000412024.2, ENST00000411689.6

Conserved Domains (1) summary

pfam00153
Location:123 → 219

Mito_carr; Mitochondrial carrier protein
NM_004277.5 → NP_004268.3 mitochondrial uncoupling protein 4 isoform 1

See identical proteins and their annotated locations for NP_004268.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AF110532, AL591242, DA144842

Consensus CDS

CCDS43470.1

UniProtKB/Swiss-Prot

F5GWR4, O95847, Q5VTS9, Q8N518

Related

ENSP00000360398.3, ENST00000371347.10

Conserved Domains (1) summary

pfam00153
Location:125 → 219

Mito_carr; Mitochondrial carrier protein

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

46652975..46678190

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005249483.3 → XP_005249540.1 mitochondrial uncoupling protein 4 isoform X1

Conserved Domains (1) summary

pfam00153
Location:125 → 219

Mito_carr; Mitochondrial carrier protein
XM_047419575.1 → XP_047275531.1 mitochondrial uncoupling protein 4 isoform X2