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SLC25A48 solute carrier family 25 member 48 [ Homo sapiens (human) ]

Gene ID: 153328, updated on 7-Jun-2020

Summary

Official Symbol
SLC25A48provided by HGNC
Official Full Name
solute carrier family 25 member 48provided by HGNC
Primary source
HGNC:HGNC:30451
See related
Ensembl:ENSG00000145832 MIM:616150
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
Expression
Biased expression in kidney (RPKM 2.6), skin (RPKM 1.9) and 10 other tissues See more
Orthologs

Genomic context

See SLC25A48 in Genome Data Viewer
Location:
5q31.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (135579165..135888637)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (135170365..135224326)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene neurogenin 1 Neighboring gene C-X-C motif chemokine ligand 14 Neighboring gene SLC25A48 antisense RNA 1 Neighboring gene uncharacterized LOC107986453 Neighboring gene microRNA 5692c-1 Neighboring gene interleukin 9 Neighboring gene F-box and leucine rich repeat protein 21, pseudogene

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 
protein binding IPI
Inferred from Physical Interaction
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 48
Names
CTC-321K16.1

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_001349335.1NP_001336264.1  solute carrier family 25 member 48 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR, lacks part of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC011427, AC034206, AC114296, BC025747, BM704498
    Consensus CDS
    CCDS87323.1
    Related
    ENSP00000493514.1, ENST00000646290.1
    Conserved Domains (1) summary
    pfam00153
    Location:166242
    Mito_carr; Mitochondrial carrier protein
  2. NM_001349336.1NP_001336265.1  solute carrier family 25 member 48 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest isoform (1).
    Source sequence(s)
    AC011427, BC025747, BG700532, BM704498
    Conserved Domains (1) summary
    pfam00153
    Location:220296
    Mito_carr; Mitochondrial carrier protein
  3. NM_001349345.2NP_001336274.1  solute carrier family 25 member 48 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream start codon and cause a frameshift relative to isoform 1. The encoded isoform has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC011427, AC034206, AC114296, DB307801, EL949709
    Conserved Domains (1) summary
    cl28162
    Location:5394
    Mito_carr; Mitochondrial carrier protein
  4. NM_145282.4NP_660325.4  solute carrier family 25 member 48 isoform 2

    See identical proteins and their annotated locations for NP_660325.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC011427, BC025747, BG700532
    Consensus CDS
    CCDS43366.2
    UniProtKB/Swiss-Prot
    Q6ZT89
    Related
    ENSP00000413049.2, ENST00000412661.3
    Conserved Domains (2) summary
    pfam00153
    Location:691
    Mito_carr; Mitochondrial carrier protein
    cl28162
    Location:107142
    Mito_carr; Mitochondrial carrier protein

RNA

  1. NR_146141.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate internal exon and uses an alternate 3' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC011427, BC025747, BG700532, DB307801, EL949709

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    135579165..135888637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714550.1XP_006714613.1  solute carrier family 25 member 48 isoform X4

    Conserved Domains (2) summary
    PTZ00168
    Location:5265
    PTZ00168; mitochondrial carrier protein; Provisional
    pfam00153
    Location:691
    Mito_carr; Mitochondrial carrier protein
  2. XM_011543199.1XP_011541501.1  solute carrier family 25 member 48 isoform X7

    Conserved Domains (1) summary
    pfam00153
    Location:691
    Mito_carr; Mitochondrial carrier protein
  3. XM_006714546.1XP_006714609.1  solute carrier family 25 member 48 isoform X2

    See identical proteins and their annotated locations for XP_006714609.1

    UniProtKB/Swiss-Prot
    Q6ZT89
    Related
    ENSP00000399834.3, ENST00000433282.6
    Conserved Domains (1) summary
    pfam00153
    Location:220296
    Mito_carr; Mitochondrial carrier protein
  4. XM_006714544.1XP_006714607.1  solute carrier family 25 member 48 isoform X1

    Related
    ENSP00000496992.1, ENST00000510147.2
    Conserved Domains (1) summary
    pfam00153
    Location:691
    Mito_carr; Mitochondrial carrier protein
  5. XM_005271903.1XP_005271960.1  solute carrier family 25 member 48 isoform X6

    Conserved Domains (1) summary
    pfam00153
    Location:691
    Mito_carr; Mitochondrial carrier protein
  6. XM_017009091.1XP_016864580.1  solute carrier family 25 member 48 isoform X8

  7. XM_006714552.2XP_006714615.1  solute carrier family 25 member 48 isoform X9

    Conserved Domains (1) summary
    pfam00153
    Location:691
    Mito_carr; Mitochondrial carrier protein
  8. XM_017009088.1XP_016864577.1  solute carrier family 25 member 48 isoform X2

    UniProtKB/Swiss-Prot
    Q6ZT89
    Related
    ENSP00000497060.1, ENST00000650267.1
    Conserved Domains (1) summary
    pfam00153
    Location:220296
    Mito_carr; Mitochondrial carrier protein
  9. XM_017009089.1XP_016864578.1  solute carrier family 25 member 48 isoform X3

  10. XM_017009087.1XP_016864576.1  solute carrier family 25 member 48 isoform X2

    UniProtKB/Swiss-Prot
    Q6ZT89
    Conserved Domains (1) summary
    pfam00153
    Location:220296
    Mito_carr; Mitochondrial carrier protein
  11. XM_011543196.1XP_011541498.1  solute carrier family 25 member 48 isoform X5

    Conserved Domains (1) summary
    pfam00153
    Location:691
    Mito_carr; Mitochondrial carrier protein

RNA

  1. XR_002959843.1 RNA Sequence

  2. XR_001742005.1 RNA Sequence

  3. XR_001742004.1 RNA Sequence

  4. XR_001742007.1 RNA Sequence

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