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SLC25A43 solute carrier family 25 member 43 [ Homo sapiens (human) ]

Gene ID: 203427, updated on 22-Sep-2022

Summary

Official Symbol
SLC25A43provided by HGNC
Official Full Name
solute carrier family 25 member 43provided by HGNC
Primary source
HGNC:HGNC:30557
See related
Ensembl:ENSG00000077713 MIM:300641; AllianceGenome:HGNC:30557
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
Summary
This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009]
Expression
Ubiquitous expression in esophagus (RPKM 7.3), colon (RPKM 5.4) and 25 other tissues See more
Orthologs
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Genomic context

See SLC25A43 in Genome Data Viewer
Location:
Xq24
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119399336..119454478)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (117777069..117832189)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (118533299..118588441)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928336 Neighboring gene mitochondrial ribosomal protein S17 pseudogene 9 Neighboring gene RNA, U1 small nuclear 67, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 118, pseudogene Neighboring gene SLC25A5 antisense RNA 1 Neighboring gene RNY3 pseudogene 16 Neighboring gene solute carrier family 25 member 5

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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
solute carrier family 25 member 43

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

  1. NG_016298.2 RefSeqGene

    Range
    5042..60184
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_145305.3NP_660348.2  solute carrier family 25 member 43

    See identical proteins and their annotated locations for NP_660348.2

    Status: REVIEWED

    Source sequence(s)
    AC004000, AC004973, BC071871, BM907537
    Consensus CDS
    CCDS14577.1
    UniProtKB/Swiss-Prot
    Q8N9L5, Q8WUT9
    Related
    ENSP00000217909.7, ENST00000217909.8
    Conserved Domains (1) summary
    pfam00153
    Location:102185
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    119399336..119454478
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441902.1XP_047297858.1  solute carrier family 25 member 43 isoform X3

  2. XM_047441901.1XP_047297857.1  solute carrier family 25 member 43 isoform X1

  3. XM_047441903.1XP_047297859.1  solute carrier family 25 member 43 isoform X4

  4. XM_017029341.2XP_016884830.1  solute carrier family 25 member 43 isoform X5

  5. XM_017029340.2XP_016884829.1  solute carrier family 25 member 43 isoform X2

RNA

  1. XR_938546.2 RNA Sequence

  2. XR_001755662.2 RNA Sequence

  3. XR_938547.2 RNA Sequence

  4. XR_938545.2 RNA Sequence

  5. XR_001755664.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    117777069..117832189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)