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

Gene ID: 283130, updated on 1-Jun-2020

Summary

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
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
SLC25A45 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in spleen (RPKM 5.2), lymph node (RPKM 4.1) and 25 other tissues See more
Orthologs

Genomic context

See SLC25A45 in Genome Data Viewer
Location:
11q13.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65375192..65383701, complement)
105 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 double PHD fingers 2 Neighboring gene tigger transposable element derived 3 Neighboring gene Sharpr-MPRA regulatory region 983 Neighboring gene FERM domain containing 8 Neighboring gene CRISPRi-validated cis-regulatory element chr11.3233

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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42028

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
acyl carnitine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ATP transport IEA
Inferred from Electronic Annotation
more info
 
acyl carnitine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
acyl carnitine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
solute carrier family 25 member 45

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.

mRNA and Protein(s)

  1. NM_001077241.3NP_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
    Related
    ENSP00000294187.6, ENST00000294187.10
  2. NM_001278250.3NP_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
    Related
    ENSP00000431769.1, ENST00000534028.5
  3. NM_001278251.2NP_001265180.2  solute carrier family 25 member 45 isoform b

    See identical proteins and their annotated locations for NP_001265180.2

    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)
    AK091190, BC036869, BU728924
    Consensus CDS
    CCDS41671.1
    UniProtKB/Swiss-Prot
    Q8N413
    UniProtKB/TrEMBL
    B3KR90
    Conserved Domains (2) summary
    pfam00153
    Location:155246
    Mito_carr; Mitochondrial carrier protein
    cl28162
    Location:335
    Mito_carr; Mitochondrial carrier protein
  4. NM_001300820.2NP_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
    Related
    ENSP00000435547.1, ENST00000526432.5
  5. NM_001352381.2NP_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
    Related
    ENSP00000435489.1, ENST00000527174.5
  6. NM_001352382.2NP_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
  7. NM_001352383.2NP_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
  8. NM_001352384.2NP_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
  9. NM_182556.3NP_872362.3  solute carrier family 25 member 45 isoform a

    See identical proteins and their annotated locations for NP_872362.3

    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)
    BC036869, BU728924, DB049668
    Consensus CDS
    CCDS41670.1
    UniProtKB/Swiss-Prot
    Q8N413
    Related
    ENSP00000381782.1, ENST00000398802.5
    Conserved Domains (1) summary
    pfam00153
    Location:197288
    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: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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