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

Gene ID: 5250, updated on 11-Sep-2019

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
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; 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

Genomic context

See SLC25A3 in Genome Data Viewer
Location:
12q23.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (98593625..98606367)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (98987403..98995778)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene TMPO antisense RNA 1 Neighboring gene thymopoietin Neighboring gene small nucleolar RNA, H/ACA box 53 Neighboring gene peptidylprolyl isomerase A pseudogene 8 Neighboring gene IKBKB interacting protein Neighboring gene apoptotic peptidase activating factor 1 Neighboring gene ankyrin repeat and sterile alpha motif domain containing 1B

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
inorganic phosphate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphate:proton symporter activity TAS
Traceable Author Statement
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
phosphate ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane HDA PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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

  1. NG_011702.1 RefSeqGene

    Range
    5001..13376
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002635.4NP_002626.1  phosphate carrier protein, mitochondrial 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/Swiss-Prot
    Q00325
    UniProtKB/TrEMBL
    A0A024RBE8, Q6MZF9
    Related
    ENSP00000448708.1, ENST00000552981.5
    Conserved Domains (2) summary
    pfam00153
    Location:60151
    Mito_carr; Mitochondrial carrier protein
    cl28162
    Location:262340
    Mito_carr; Mitochondrial carrier protein
  2. NM_005888.3NP_005879.1  phosphate carrier protein, mitochondrial 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
    Q00325
    UniProtKB/TrEMBL
    A0A024RBH9, Q6MZF9
    Related
    ENSP00000228318.3, ENST00000228318.7
    Conserved Domains (2) summary
    pfam00153
    Location:64152
    Mito_carr; Mitochondrial carrier protein
    cl28162
    Location:263341
    Mito_carr; Mitochondrial carrier protein
  3. NM_213611.3NP_998776.1  phosphate carrier protein, mitochondrial 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/Swiss-Prot
    Q00325
    UniProtKB/TrEMBL
    A0A024RBE8, Q6MZF9
    Related
    ENSP00000188376.5, ENST00000188376.9
    Conserved Domains (2) summary
    pfam00153
    Location:60151
    Mito_carr; Mitochondrial carrier protein
    cl28162
    Location:262340
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    98593625..98606367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_213612.1: Suppressed sequence

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