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

    Gene ID: 5250, updated on 6-Oct-2024

    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
    NEW
    Try the new Gene table
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    Genomic context

    See SLC25A3 in Genome Data Viewer
    Location:
    12q23.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (98593686..98606367)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (98566653..98579332)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (98987464..99000145)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4753 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:98922080-98922246 Neighboring gene TMPO antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6845 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:98987254-98987878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6847 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:98987879-98988503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6848 Neighboring gene MPRA-validated peak1907 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4754 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31387 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:99037284-99037911 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:99037912-99038538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:99038539-99039166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4756 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:99043141-99044340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:99072005-99072576 Neighboring gene thymopoietin Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31421 Neighboring gene small nucleolar RNA, H/ACA box 53 Neighboring gene peptidylprolyl isomerase A pseudogene 8 Neighboring gene MPRA-validated peak1909 silencer 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 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_011702.2 RefSeqGene

      Range
      5002..17683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002635.4NP_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:60151
      Mito_carr; Mitochondrial carrier protein
      cl28162
      Location:262340
      Mito_carr; Mitochondrial carrier protein
    2. NM_005888.4NP_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:64152
      Mito_carr; Mitochondrial carrier protein
      cl28162
      Location:263341
      Mito_carr; Mitochondrial carrier protein
    3. NM_213611.3NP_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:60151
      Mito_carr; Mitochondrial carrier protein
      cl28162
      Location:262340
      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

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      98593686..98606367
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      98566653..98579332
      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.