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

Gene ID: 9016, updated on 11-Sep-2019

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
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

Genomic context

See SLC25A14 in Genome Data Viewer
Location:
Xq26.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (130339888..130373361)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (129472689..129507335)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1130, pseudogene Neighboring gene SNRPN upstream reading frame protein pseudogene 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 BioSystems

  • Electron Transport Chain, organism-specific biosystem (from WikiPathways)
    Electron Transport Chain, organism-specific biosystemAn electron transport chain(ETC) couples a chemical reaction between an electron donor (such as NADH) and an electron acceptor (such as O2) to the transfer of H+ ions across a membrane, through a set...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Mitochondrial Uncoupling Proteins, organism-specific biosystem (from REACTOME)
    Mitochondrial Uncoupling Proteins, organism-specific biosystemUncoupling proteins (UCPs) are members of the mitochondrial transport carrier family, and have been implicated in a wide range of physiological and pathological conditions. Physiological conditions i...
  • Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystem (from REACTOME)
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystemOxidation of fatty acids and pyruvate in the mitochondrial matrix yield large amounts of NADH. The respiratory electron transport chain couples the re-oxidation of this NADH to NAD+ to the export of ...
  • The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
    The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...
  • The fatty acid cycling model, organism-specific biosystem (from REACTOME)
    The fatty acid cycling model, organism-specific biosystemThe "fatty acid cycling" hypothesis proposes that protonated fatty acids flip-flop in the membrane and deliver a proton to the matrix side. UCP1 catalyses the return of the fatty acid anion to the cy...
  • The proton buffering model, organism-specific biosystem (from REACTOME)
    The proton buffering model, organism-specific biosystemThe "proton buffering" model proposes that UCP1 is intrinsically a proton carrier, and that fatty acid acts as a prosthetic group during proton transport. Fatty acid penetrates from the lipid phase, ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC149543

Gene Ontology Provided by GOA

Function Evidence Code Pubs
antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
malate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxaloacetate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
succinate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sulfate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiosulfate transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
aerobic respiration TAS
Traceable Author Statement
more info
PubMed 
malate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial transport IEA
Inferred from Electronic Annotation
more info
 
oxaloacetate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxaloacetate(2-) transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
phosphate ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton transmembrane transport TAS
Traceable Author Statement
more info
 
succinate transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sulfate transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sulfate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiosulfate transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

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_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
    O95258
    Related
    ENSP00000444642.2, ENST00000545805.6
    Conserved Domains (1) summary
    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 (1) summary
    pfam00153
    Location:231320
    Mito_carr; Mitochondrial carrier protein
  3. NM_001282197.1NP_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_001282198.1NP_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/Swiss-Prot
    O95258
    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: 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_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    130339888..130373361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029940.1XP_016885429.1  brain mitochondrial carrier protein 1 isoform X6

  2. XM_005262489.5XP_005262546.1  brain mitochondrial carrier protein 1 isoform X8

    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_017029936.2XP_016885425.1  brain mitochondrial carrier protein 1 isoform X1

  4. XM_011531402.2XP_011529704.1  brain mitochondrial carrier protein 1 isoform X5

    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
  5. XM_017029937.1XP_016885426.1  brain mitochondrial carrier protein 1 isoform X2

  6. XM_017029941.1XP_016885430.1  brain mitochondrial carrier protein 1 isoform X9

  7. XM_017029938.2XP_016885427.1  brain mitochondrial carrier protein 1 isoform X3

  8. XM_017029939.2XP_016885428.1  brain mitochondrial carrier protein 1 isoform X4

  9. XM_024452474.1XP_024308242.1  brain mitochondrial carrier protein 1 isoform X7

    Related
    ENSP00000402578.1, ENST00000424447.5
    Conserved Domains (1) summary
    pfam00153
    Location:40136
    Mito_carr; Mitochondrial carrier protein
  10. XM_017029943.1XP_016885432.1  brain mitochondrial carrier protein 1 isoform X10

  11. XM_017029942.1XP_016885431.1  brain mitochondrial carrier protein 1 isoform X9

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.
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