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SLC25A34 solute carrier family 25 member 34 [ Homo sapiens (human) ]

Gene ID: 284723, updated on 5-Mar-2024

Summary

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Official Symbol
SLC25A34provided by HGNC
Official Full Name
solute carrier family 25 member 34provided by HGNC
Primary source
HGNC:HGNC:27653
See related
Ensembl:ENSG00000162461 MIM:610817; AllianceGenome:HGNC:27653
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
SLC25A34 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
Expression
Broad expression in duodenum (RPKM 4.5), small intestine (RPKM 4.4) and 22 other tissues See more
Orthologs
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Genomic context

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See SLC25A34 in Genome Data Viewer
Location:
1p36.21
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (15736258..15741392)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (15179763..15186130)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16062753..16067887)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DNA damage inducible 1 homolog 2 Neighboring gene MPRA-validated peak82 silencer Neighboring gene regulator of solute carriers 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16005129-16005676 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16006379-16006879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 311 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 240 Neighboring gene pleckstrin homology and RUN domain containing M2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 244 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:16051023-16051299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16051819-16052339 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16061087-16061852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16061853-16062619 Neighboring gene SLC25A34 and TMEM82 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16068575-16069355 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16070316-16070829 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16070830-16071342 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16079899-16080400 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:16080401-16080900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:16082643-16083422 Neighboring gene transmembrane protein 82 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16087099-16088043 Neighboring gene filamin binding LIM protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:16112886-16113650

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Single-cell transcriptomes identify human islet cell signatures and reveal cell-type-specific expression changes in type 2 diabetes. Lawlor N, et al. Genome Res, 2017 Feb. PMID 27864352, Free PMC Article
  2. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. Haitina T, et al. Genomics, 2006 Dec. PMID 16949250
  3. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187
  4. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. Achuthankutty D, et al. J Cell Biol, 2019 Dec 2. PMID 31615875, Free PMC Article
  5. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. Liu C, et al. Cancer Res, 2019 May 1. PMID 30862715, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The SLC25A34 transcript, based on single cell transcriptomics, is specific to the beta cells in the human islet.
    Title: Single-cell transcriptomes identify human islet cell signatures and reveal cell-type-specific expression changes in type 2 diabetes.
  2. Compares and contrasts all the known human SLC25A* genes and includes functional information.
    Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp781A10161

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in blastocyst hatching 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

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Preferred Names
solute carrier family 25 member 34

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.

mRNA and Protein(s)

  1. NM_207348.3 → NP_997231.1  solute carrier family 25 member 34

    See identical proteins and their annotated locations for NP_997231.1

    Status: VALIDATED

    Source sequence(s)
    AL450998, AW291716, BC027998
    Consensus CDS
    CCDS162.1
    UniProtKB/Swiss-Prot
    Q68DV0, Q6PIV7
    Related
    ENSP00000294454.5, ENST00000294454.6
    Conserved Domains (1) summary
    pfam00153
    Location:203 → 295
    Mito_carr; Mitochondrial carrier protein

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    15736258..15741392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001083.2 → XP_016856572.1  solute carrier family 25 member 34 isoform X1

  2. XM_011541293.2 → XP_011539595.1  solute carrier family 25 member 34 isoform X2

    Conserved Domains (1) summary
    pfam00153
    Location:2 → 91
    Mito_carr; Mitochondrial carrier protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    15179763..15186130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336150.1 → XP_054192125.1  solute carrier family 25 member 34 isoform X3

    UniProtKB/Swiss-Prot
    Q68DV0, Q6PIV7

  2. XM_054336151.1 → XP_054192126.1  solute carrier family 25 member 34 isoform X1

  3. XM_054336152.1 → XP_054192127.1  solute carrier family 25 member 34 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PIV7.1 GenPept UniProtKB/Swiss-Prot:Q6PIV7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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