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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)
-
NM_001349335.2 → NP_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
- UniProtKB/TrEMBL
-
J3KQI1
- Related
- ENSP00000493514.1, ENST00000646290.1
- Conserved Domains (1) summary
-
- pfam00153
Location:166 → 242
- Mito_carr; Mitochondrial carrier protein
-
NM_001349336.2 → NP_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
- Consensus CDS
-
CCDS93786.1
- UniProtKB/Swiss-Prot
- Q6ZT89, Q8TAV9
- Related
- ENSP00000506858.1, ENST00000681962.1
- Conserved Domains (1) summary
-
- pfam00153
Location:220 → 296
- Mito_carr; Mitochondrial carrier protein
-
NM_001349345.2 → NP_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:53 → 94
- Mito_carr; Mitochondrial carrier protein
-
NM_145282.5 → NP_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:6 → 91
- Mito_carr; Mitochondrial carrier protein
- cl28162
Location:107 → 142
- Mito_carr; Mitochondrial carrier protein
RNA
-
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
The following sections contain reference sequences that belong to a
specific genome build. Explain
This section includes genomic Reference
Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as
RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate
assemblies. Model RNAs and proteins are also reported here.
Reference GRCh38.p14 Primary Assembly
Genomic
-
NC_000005.10 Reference GRCh38.p14 Primary Assembly
- Range
-
135579172..135888637
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_006714550.2 → XP_006714613.1 solute carrier family 25 member 48 isoform X6
- Conserved Domains (2) summary
-
- PTZ00168
Location:5 → 265
- PTZ00168; mitochondrial carrier protein; Provisional
- pfam00153
Location:6 → 91
- Mito_carr; Mitochondrial carrier protein
-
XM_011543199.2 → XP_011541501.1 solute carrier family 25 member 48 isoform X9
- Conserved Domains (1) summary
-
- pfam00153
Location:6 → 91
- Mito_carr; Mitochondrial carrier protein
-
XM_006714544.2 → XP_006714607.1 solute carrier family 25 member 48 isoform X2
- UniProtKB/TrEMBL
-
A0A3B3IRS1
- Related
- ENSP00000496992.1, ENST00000510147.2
- Conserved Domains (1) summary
-
- pfam00153
Location:6 → 91
- Mito_carr; Mitochondrial carrier protein
-
XM_005271903.2 → XP_005271960.1 solute carrier family 25 member 48 isoform X8
- Conserved Domains (1) summary
-
- pfam00153
Location:6 → 91
- Mito_carr; Mitochondrial carrier protein
-
XM_017009091.2 → XP_016864580.1 solute carrier family 25 member 48 isoform X10
-
XM_047416806.1 → XP_047272762.1 solute carrier family 25 member 48 isoform X11
-
XM_047416807.1 → XP_047272763.1 solute carrier family 25 member 48 isoform X12
-
XM_006714552.3 → XP_006714615.1 solute carrier family 25 member 48 isoform X13
- Conserved Domains (1) summary
-
- pfam00153
Location:6 → 91
- Mito_carr; Mitochondrial carrier protein
-
XM_017009088.2 → XP_016864577.1 solute carrier family 25 member 48 isoform X3
- UniProtKB/Swiss-Prot
- Q6ZT89, Q8TAV9
- Related
- ENSP00000497060.1, ENST00000650267.1
- Conserved Domains (1) summary
-
- pfam00153
Location:220 → 296
- Mito_carr; Mitochondrial carrier protein
-
XM_017009089.2 → XP_016864578.1 solute carrier family 25 member 48 isoform X5
-
XM_011543196.2 → XP_011541498.1 solute carrier family 25 member 48 isoform X7
- Conserved Domains (1) summary
-
- pfam00153
Location:6 → 91
- Mito_carr; Mitochondrial carrier protein
-
XM_017009087.2 → XP_016864576.1 solute carrier family 25 member 48 isoform X3
- UniProtKB/Swiss-Prot
- Q6ZT89, Q8TAV9
- Related
- ENSP00000399834.3, ENST00000433282.6
- Conserved Domains (1) summary
-
- pfam00153
Location:220 → 296
- Mito_carr; Mitochondrial carrier protein
-
XM_047416804.1 → XP_047272760.1 solute carrier family 25 member 48 isoform X1
-
XM_047416805.1 → XP_047272761.1 solute carrier family 25 member 48 isoform X4
Alternate T2T-CHM13v2.0
Genomic
-
NC_060929.1 Alternate T2T-CHM13v2.0
- Range
-
136106315..136411134
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_054351778.1 → XP_054207753.1 solute carrier family 25 member 48 isoform X6
-
XM_054351781.1 → XP_054207756.1 solute carrier family 25 member 48 isoform X9
-
XM_054351773.1 → XP_054207748.1 solute carrier family 25 member 48 isoform X2
-
XM_054351780.1 → XP_054207755.1 solute carrier family 25 member 48 isoform X8
-
XM_054351782.1 → XP_054207757.1 solute carrier family 25 member 48 isoform X10
-
XM_054351783.1 → XP_054207758.1 solute carrier family 25 member 48 isoform X11
-
XM_054351784.1 → XP_054207759.1 solute carrier family 25 member 48 isoform X12
-
XM_054351785.1 → XP_054207760.1 solute carrier family 25 member 48 isoform X13
-
XM_054351775.1 → XP_054207750.1 solute carrier family 25 member 48 isoform X3
- UniProtKB/Swiss-Prot
- Q6ZT89, Q8TAV9
-
XM_054351777.1 → XP_054207752.1 solute carrier family 25 member 48 isoform X5
-
XM_054351779.1 → XP_054207754.1 solute carrier family 25 member 48 isoform X7
-
XM_054351774.1 → XP_054207749.1 solute carrier family 25 member 48 isoform X3
- UniProtKB/Swiss-Prot
- Q6ZT89, Q8TAV9
-
XM_054351772.1 → XP_054207747.1 solute carrier family 25 member 48 isoform X1
-
XM_054351776.1 → XP_054207751.1 solute carrier family 25 member 48 isoform X4