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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
    mouse all
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    Genomic context

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    See SLC25A45 in Genome Data Viewer
    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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    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.

    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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