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    SLC25A14 solute carrier family 25 member 14 [ Homo sapiens (human) ]

    Gene ID: 9016, updated on 17-Jun-2024

    Summary

    Official Symbol
    SLC25A14provided by HGNC
    Official Full Name
    solute carrier family 25 member 14provided by HGNC
    Primary source
    HGNC:HGNC:10984
    See related
    Ensembl:ENSG00000102078 MIM:300242; AllianceGenome:HGNC:10984
    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
    UCP5; BMCP1
    Summary
    Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins 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. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in brain (RPKM 4.0), testis (RPKM 2.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SLC25A14 in Genome Data Viewer
    Location:
    Xq26.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (130339919..130373357)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (128658734..128692156)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (129473893..129507331)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1130, pseudogene Neighboring gene SNRPN upstream reading frame protein-like Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:129473525-129474098 Neighboring gene G protein-coupled receptor 119 Neighboring gene RNA binding motif protein X-linked 2

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC149543

    General protein information

    Preferred Names
    brain mitochondrial carrier protein 1
    Names
    mitochondrial uncoupling protein 5

    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_012850.2 RefSeqGene

      Range
      4847..38285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282195.2NP_001269124.1  brain mitochondrial carrier protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001269124.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as UCP5L or long) encodes isoform 1.
      Source sequence(s)
      AF078544, DB485834
      Consensus CDS
      CCDS14623.1
      UniProtKB/Swiss-Prot
      D3DTG2, O95258, Q0VDH7, Q9HC60, Q9HC61
      Related
      ENSP00000444642.2, ENST00000545805.6
      Conserved Domains (2) summary
      PTZ00169
      Location:44323
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:234323
      Mito_carr; Mitochondrial carrier protein
    2. NM_001282196.2NP_001269125.1  brain mitochondrial carrier protein 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001269125.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as UCP5S or short) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AF078544, AK309433, DB485834
      Consensus CDS
      CCDS14624.1
      UniProtKB/Swiss-Prot
      O95258
      Related
      ENSP00000354455.5, ENST00000361980.9
      Conserved Domains (2) summary
      PTZ00169
      Location:41320
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:231320
      Mito_carr; Mitochondrial carrier protein
    3. NM_001282197.2NP_001269126.1  brain mitochondrial carrier protein 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001269126.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as UCP5SI) uses an alternate in-frame splice site in the 5' coding region, and contains an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is longer, compared to isoform 1.
      Source sequence(s)
      AF078544, AF155810, AK297499, DB485834
      Consensus CDS
      CCDS76020.1
      UniProtKB/Swiss-Prot
      O95258
      UniProtKB/TrEMBL
      B4DMK1
      Related
      ENSP00000477981.1, ENST00000612248.4
      Conserved Domains (2) summary
      PTZ00169
      Location:41351
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:262351
      Mito_carr; Mitochondrial carrier protein
    4. NM_001282198.2NP_001269127.1  brain mitochondrial carrier protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001269127.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AF078544, DB485834
      Consensus CDS
      CCDS76021.1
      UniProtKB/TrEMBL
      F6SL11
      Related
      ENSP00000445225.2, ENST00000543953.5
      Conserved Domains (2) summary
      PTZ00169
      Location:9288
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:199288
      Mito_carr; Mitochondrial carrier protein

    RNA

    1. NR_104107.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because it does not encode a supported protein.
      Source sequence(s)
      AF078544, AL520510, DB485834

    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

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      130339919..130373357
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531402.3XP_011529704.1  brain mitochondrial carrier protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011529704.1

      Conserved Domains (2) summary
      PTZ00169
      Location:53332
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:243332
      Mito_carr; Mitochondrial carrier protein
    2. XM_005262489.6XP_005262546.1  brain mitochondrial carrier protein 1 isoform X3

      See identical proteins and their annotated locations for XP_005262546.1

      Conserved Domains (1) summary
      pfam00153
      Location:133222
      Mito_carr; Mitochondrial carrier protein
    3. XM_047442617.1XP_047298573.1  brain mitochondrial carrier protein 1 isoform X5

      UniProtKB/TrEMBL
      B7Z996
    4. XM_047442615.1XP_047298571.1  brain mitochondrial carrier protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DJN2
    5. XM_047442616.1XP_047298572.1  brain mitochondrial carrier protein 1 isoform X4

      UniProtKB/TrEMBL
      B7Z996

    RNA

    1. XR_007068205.1 RNA Sequence

      Related
      ENST00000424447.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      128658734..128692156
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328066.1XP_054184041.1  brain mitochondrial carrier protein 1 isoform X1

    2. XM_054328068.1XP_054184043.1  brain mitochondrial carrier protein 1 isoform X3

    3. XM_054328070.1XP_054184045.1  brain mitochondrial carrier protein 1 isoform X5

      UniProtKB/TrEMBL
      B7Z996
    4. XM_054328067.1XP_054184042.1  brain mitochondrial carrier protein 1 isoform X2

      UniProtKB/TrEMBL
      B4DJN2
    5. XM_054328069.1XP_054184044.1  brain mitochondrial carrier protein 1 isoform X4

      UniProtKB/TrEMBL
      B7Z996

    RNA

    1. XR_008485514.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_003951.2: Suppressed sequence

      Description
      NM_003951.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    2. NM_022810.1: Suppressed sequence

      Description
      NM_022810.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.