SLC25A3 solute carrier family 25 member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC25A3provided by HGNC
Official Full Name: solute carrier family 25 member 3provided by HGNC
Primary source: HGNC:HGNC:10989
See related: Ensembl:ENSG00000075415 MIM:600370; AllianceGenome:HGNC:10989
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: PHC; PTP; PiC; OK/SW-cl.48
Summary: The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in heart (RPKM 179.1), kidney (RPKM 125.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q23.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (98593686..98606367)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (98566653..98579332)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (98987464..99000145)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Getting out what you put in: Copper in mitochondria and its impacts on human disease.
Title: Getting out what you put in: Copper in mitochondria and its impacts on human disease.
SLC25A3 is a mitochondrial copper transporter.
Title: The mammalian phosphate carrier SLC25A3 is a mitochondrial copper transporter required for cytochrome c oxidase biogenesis.
these results indicate that PiC depletion may need to be profound (>85%) to substantially affect maximal oxphos and that pathogenesis associated with PiC depletion or loss of function may be independent of phosphate limitation when ATP requirements are not high.
Title: Natural and Induced Mitochondrial Phosphate Carrier Loss: DIFFERENTIAL DEPENDENCE OF MITOCHONDRIAL METABOLISM AND DYNAMICS AND CELL SURVIVAL ON THE EXTENT OF DEPLETION.
Compares and contrasts all the known human SLC25A* genes and includes functional information.
Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
This protein has been found differentially expressed in the Wernicke's Area from patients with schizophrenia.
Title: Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.
An analysis of the promoter region of the human mitochondrial phosphate transporter, including its activation and inhibition domains, is reported.
Title: Functional analysis of the promoter of the mitochondrial phosphate carrier human gene: identification of activator and repressor elements and their transcription factors.
SLC25A3 protein deficiency is associated with lactic acidosis, hypertrophic cardiomyopathy, and muscular hypotonia
Title: Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.

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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

Associated conditions

Description	Tests
Cardiomyopathy-hypotonia-lactic acidosis syndrome MedGen: C1835845 OMIM: 610773 GeneReviews: Not available	Compare labs

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

RK1219_1220 (e-PCR)
- UniSTS:35695

G28613 (e-PCR)
- UniSTS:62143

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphate:proton symporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial phosphate ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in phosphate ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: solute carrier family 25 member 3

Names: phosphate transport protein; solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3

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_011702.2 RefSeqGene

Range

5002..17683

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002635.4 → NP_002626.1 solute carrier family 25 member 3 isoform b precursor

See identical proteins and their annotated locations for NP_002626.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the predominant transcript. Variants 2 and 3 encode the same isoform (b).

Source sequence(s)

AC013283, BI458030, BX647062, X60036

Consensus CDS

CCDS9065.1

UniProtKB/TrEMBL

A0A024RBE8, B2RE88, Q53HC3, Q8NCF7

Related

ENSP00000448708.2, ENST00000552981.6

Conserved Domains (2) summary

pfam00153
Location:60 → 151

Mito_carr; Mitochondrial carrier protein

cl28162
Location:262 → 340

Mito_carr; Mitochondrial carrier protein
NM_005888.4 → NP_005879.1 solute carrier family 25 member 3 isoform a precursor

See identical proteins and their annotated locations for NP_005879.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) has an alternate exon in the 5' coding region, compared to variant 2. It encodes isoform a, which has an internal segment that differs from isoform b.

Source sequence(s)

AC013283, AK092689, BI458030, BX647062

Consensus CDS

CCDS9066.1

UniProtKB/Swiss-Prot

B3KS34, Q00325, Q7Z7N7, Q96A03

UniProtKB/TrEMBL

A0A024RBH9, B2RE88, Q53HC3, Q8NCF7

Related

ENSP00000228318.3, ENST00000228318.8

Conserved Domains (2) summary

pfam00153
Location:64 → 152

Mito_carr; Mitochondrial carrier protein

cl28162
Location:263 → 341

Mito_carr; Mitochondrial carrier protein
NM_213611.3 → NP_998776.1 solute carrier family 25 member 3 isoform b precursor

See identical proteins and their annotated locations for NP_998776.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 2. Variants 2 and 3 both encode isoform b.

Source sequence(s)

AC013283, BC001328, BI458030, BX647062

Consensus CDS

CCDS9065.1

UniProtKB/TrEMBL

A0A024RBE8, B2RE88, Q53HC3, Q8NCF7

Related

ENSP00000188376.5, ENST00000188376.9

Conserved Domains (2) summary

pfam00153
Location:60 → 151

Mito_carr; Mitochondrial carrier protein

cl28162
Location:262 → 340

Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

98593686..98606367

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

98566653..98579332

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_213612.1: Suppressed sequence

Description

NM_213612.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.