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SLC25A45 solute carrier family 25 member 45 [ Homo sapiens (human) ]

Gene ID: 283130, updated on 5-Mar-2024

Summary

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Official Symbol
SLC25A45provided by HGNC
Official Full Name
solute carrier family 25 member 45provided by HGNC
Primary source
HGNC:HGNC:27442
See related
Ensembl:ENSG00000162241 MIM:610825; AllianceGenome:HGNC:27442
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
Predicted to enable acyl carnitine transmembrane transporter activity. Predicted to be involved in acyl carnitine transport and amino acid transport. Predicted to be located in mitochondrial inner membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 5.2), lymph node (RPKM 4.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11q13.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65375192..65383701, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65368510..65377020, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65142663..65151172, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4953 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65104413-65104913 Neighboring gene double PHD fingers 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3521 Neighboring gene Sharpr-MPRA regulatory region 3865 Neighboring gene tigger transposable element derived 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65144096-65144596 Neighboring gene FERM domain containing 8 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:65149420-65150619 Neighboring gene Sharpr-MPRA regulatory region 10780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65153824-65154412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65156452-65157086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65160023-65160609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65167805-65168690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65171719-65172218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4958 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3233 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65187227-65187812 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:65188260-65189459 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:65189569-65190154 and GRCh37_chr11:65190155-65190740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4968 Neighboring gene Sharpr-MPRA regulatory region 4367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4969 Neighboring gene nuclear paraspeckle assembly transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65210919-65211744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65211745-65212569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4973 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:65222520-65222823 Neighboring gene microRNA 612 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:65226769-65227414 Neighboring gene FAU pseudogene 4

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. 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
  2. Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality. Seppälä I, et al. Eur Heart J, 2014 Feb. PMID 24159190
  3. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187
  4. ΔNp63α Suppresses TGFB2 Expression and RHOA Activity to Drive Cell Proliferation in Squamous Cell Carcinomas. Abraham CG, et al. Cell Rep, 2018 Sep 18. PMID 30232004, Free PMC Article
  5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Compares and contrasts all the known human SLC25A* genes and includes functional information.
    Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
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

EBI GWAS Catalog

Description
Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
EBI GWAS Catalog

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

  • FLJ42028

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
solute carrier family 25 member 45

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_001077241.3 → NP_001070709.3  solute carrier family 25 member 45 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal exon in the 5' region which causes translation initiation at a downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 4, and 7 all encode the same isoform (b).
    Source sequence(s)
    AP000944
    Consensus CDS
    CCDS41671.1
    UniProtKB/TrEMBL
    B3KR90
    Related
    ENSP00000294187.6, ENST00000294187.10
    Conserved Domains (1) summary
    pfam00153
    Location:155 → 246
    Mito_carr; Mitochondrial carrier protein

  2. NM_001278250.3 → NP_001265179.3  solute carrier family 25 member 45 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and also lacks an in-frame coding exon, compared to variant 1. The resulting isoform (c) lacks an internal segment, compared to isoform a.
    Source sequence(s)
    AP000944
    Consensus CDS
    CCDS60850.1
    UniProtKB/TrEMBL
    B3KR90
    Related
    ENSP00000431769.1, ENST00000534028.5
    Conserved Domains (1) summary
    pfam00153
    Location:175 → 264
    Mito_carr; Mitochondrial carrier protein

  3. NM_001278251.3 → NP_001265180.3  solute carrier family 25 member 45 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2, 4, and 7 all encode the same isoform (b).
    Source sequence(s)
    AP000944
    Consensus CDS
    CCDS41671.1
    UniProtKB/TrEMBL
    B3KR90
    Conserved Domains (1) summary
    pfam00153
    Location:155 → 246
    Mito_carr; Mitochondrial carrier protein

  4. NM_001300820.2 → NP_001287749.2  solute carrier family 25 member 45 isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (d) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AP000944
    Consensus CDS
    CCDS76431.1
    UniProtKB/TrEMBL
    E9PJQ3
    Related
    ENSP00000435547.1, ENST00000526432.5
    Conserved Domains (1) summary
    pfam00153
    Location:137 → 226
    Mito_carr; Mitochondrial carrier protein

  5. NM_001352381.2 → NP_001339310.2  solute carrier family 25 member 45 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variant 1, encodes isoform a.
    Source sequence(s)
    AP000944
    Consensus CDS
    CCDS41670.1
    UniProtKB/Swiss-Prot
    Q6PL49, Q8IW29, Q8N413
    UniProtKB/TrEMBL
    B3KR90
    Related
    ENSP00000435489.1, ENST00000527174.5
    Conserved Domains (1) summary
    pfam00153
    Location:197 → 288
    Mito_carr; Mitochondrial carrier protein

  6. NM_001352382.2 → NP_001339311.2  solute carrier family 25 member 45 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7), as well as variants 2 and 4, encodes isoform b.
    Source sequence(s)
    AP000944
    Consensus CDS
    CCDS41671.1
    UniProtKB/TrEMBL
    B3KR90
    Conserved Domains (1) summary
    pfam00153
    Location:155 → 246
    Mito_carr; Mitochondrial carrier protein

  7. NM_001352383.2 → NP_001339312.2  solute carrier family 25 member 45 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variant 9, encodes isoform e.
    Source sequence(s)
    AP000944
    UniProtKB/TrEMBL
    Q8NF46
    Conserved Domains (1) summary
    pfam00153
    Location:95 → 184
    Mito_carr; Mitochondrial carrier protein

  8. NM_001352384.2 → NP_001339313.2  solute carrier family 25 member 45 isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9), as well as variant 8, encodes isoform e.
    Source sequence(s)
    AP000944
    UniProtKB/TrEMBL
    Q8NF46
    Conserved Domains (1) summary
    pfam00153
    Location:95 → 184
    Mito_carr; Mitochondrial carrier protein

  9. NM_182556.4 → NP_872362.4  solute carrier family 25 member 45 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 6 both encode the same isoform (a).
    Source sequence(s)
    AP000944
    Consensus CDS
    CCDS41670.1
    UniProtKB/Swiss-Prot
    Q6PL49, Q8IW29, Q8N413
    UniProtKB/TrEMBL
    B3KR90
    Related
    ENSP00000381782.1, ENST00000398802.6
    Conserved Domains (1) summary
    pfam00153
    Location:197 → 288
    Mito_carr; Mitochondrial carrier protein

RNA

  1. NR_147972.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP000944

  2. NR_147973.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP000944

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    65375192..65383701 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    65368510..65377020 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N413.2 GenPept UniProtKB/Swiss-Prot:Q8N413

Gene LinkOut

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

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