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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_000688.6 → NP_000679.1 5-aminolevulinate synthase, non-specific, mitochondrial isoform 1 precursor
See identical proteins and their annotated locations for NP_000679.1
Status: VALIDATED
- Description
- Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
- Source sequence(s)
-
AI868691, AU279391, BC011798, CD014147, X56351
- Consensus CDS
-
CCDS2847.1
- UniProtKB/Swiss-Prot
-
P13196
- UniProtKB/TrEMBL
- A0A024R353, B4DVA0, Q5JAM2
- Related
- ENSP00000418779.1, ENST00000484952.6
- Conserved Domains (2) summary
-
- pfam09029
Location:2 → 137
- Preseq_ALAS; 5-aminolevulinate synthase presequence
- cl18945
Location:197 → 602
- AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
-
NM_001304443.1 → NP_001291372.1 5-aminolevulinate synthase, non-specific, mitochondrial isoform 1 precursor
See identical proteins and their annotated locations for NP_001291372.1
Status: VALIDATED
- Description
- Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
- Source sequence(s)
-
AB063322, AK300993, BM546974, DA691060, Y00451
- Consensus CDS
-
CCDS2847.1
- UniProtKB/Swiss-Prot
-
P13196
- UniProtKB/TrEMBL
- A0A024R353, B4DVA0, Q5JAM2
- Related
- ENSP00000309259.2, ENST00000310271.6
- Conserved Domains (2) summary
-
- pfam09029
Location:2 → 137
- Preseq_ALAS; 5-aminolevulinate synthase presequence
- cl18945
Location:197 → 602
- AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
-
NM_001304444.1 → NP_001291373.1 5-aminolevulinate synthase, non-specific, mitochondrial isoform 2
Status: VALIDATED
- Description
- Transcript Variant: This variant (4) uses an alternate splice site in its 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
- Source sequence(s)
-
AB063322, AK300993, BM546974, DA691060
- UniProtKB/TrEMBL
-
B4DVA0
- Conserved Domains (3) summary
-
- COG0156
Location:214 → 605
- BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
- pfam09029
Location:19 → 154
- Preseq_ALAS; 5-aminolevulinate synthase presequence
- cl18945
Location:214 → 619
- AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
-
NM_199166.2 → NP_954635.1 5-aminolevulinate synthase, non-specific, mitochondrial isoform 1 precursor
See identical proteins and their annotated locations for NP_954635.1
Status: VALIDATED
- Description
- Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
- Source sequence(s)
-
AI868691, BM546974, BU173391, X56351
- Consensus CDS
-
CCDS2847.1
- UniProtKB/Swiss-Prot
-
P13196
- UniProtKB/TrEMBL
- A0A024R353, B4DVA0, Q5JAM2
- Related
- ENSP00000417719.1, ENST00000469224.5
- Conserved Domains (2) summary
-
- pfam09029
Location:2 → 137
- Preseq_ALAS; 5-aminolevulinate synthase presequence
- cl18945
Location:197 → 602
- AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
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_000003.12 Reference GRCh38.p14 Primary Assembly
- Range
-
52198083..52214327
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_011533478.3 → XP_011531780.1 5-aminolevulinate synthase, non-specific, mitochondrial isoform X2
- UniProtKB/TrEMBL
-
B4DVA0
- Conserved Domains (3) summary
-
- COG0156
Location:214 → 550
- BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
- pfam09029
Location:19 → 154
- Preseq_ALAS; 5-aminolevulinate synthase presequence
- cl18945
Location:214 → 564
- AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
-
XM_017005873.2 → XP_016861362.1 5-aminolevulinate synthase, non-specific, mitochondrial isoform X3
- UniProtKB/TrEMBL
-
B4DVA0
- Conserved Domains (2) summary
-
- pfam09029
Location:2 → 137
- Preseq_ALAS; 5-aminolevulinate synthase presequence
- cl18945
Location:197 → 547
- AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
-
XM_011533477.3 → XP_011531779.1 5-aminolevulinate synthase, non-specific, mitochondrial isoform X1
- UniProtKB/TrEMBL
-
B4DVA0
- Conserved Domains (3) summary
-
- COG0156
Location:214 → 604
- BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
- pfam09029
Location:19 → 154
- Preseq_ALAS; 5-aminolevulinate synthase presequence
- cl18945
Location:214 → 603
- AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
Alternate T2T-CHM13v2.0
Genomic
-
NC_060927.1 Alternate T2T-CHM13v2.0
- Range
-
52230963..52247212
- Download
- GenBank, FASTA, Sequence Viewer (Graphics)
mRNA and Protein(s)
-
XM_054345666.1 → XP_054201641.1 5-aminolevulinate synthase, non-specific, mitochondrial isoform X2
- UniProtKB/TrEMBL
-
B4DVA0
-
XM_054345667.1 → XP_054201642.1 5-aminolevulinate synthase, non-specific, mitochondrial isoform X3
- UniProtKB/TrEMBL
-
B4DVA0
-
XM_054345665.1 → XP_054201640.1 5-aminolevulinate synthase, non-specific, mitochondrial isoform X1
- UniProtKB/TrEMBL
-
B4DVA0