GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase [Homo sapiens (human)] - Gene (original) (raw)

Exon count:

24

Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33503931..33542893, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31885765..31924746, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34876238..34915198, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes

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](#geneGenomic regions, transcripts, and products) above.

Genomic

  1. NG_029160.2 RefSeqGene
    Range
    5776..43960
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000819.5 → NP_000810.1 trifunctional purine biosynthetic protein adenosine-3 isoform 1
    See identical proteins and their annotated locations for NP_000810.1
    Status: REVIEWED
    Description
    Transcript Variant: This variant (1) encodes the longer protein (isoform 1). Variants 1, 3, and 4 encode the same protein.
    Source sequence(s)
    [AK292897, BQ010035, DB236855, X54199](/nuccore/AK292897, BQ010035, DB236855, X54199)
    Consensus CDS
    CCDS13627.1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7
    Related
    ENSP00000371236.4, ENST00000381815.9
    Conserved Domains (7) summary
    cd02196
    Location:469 → 767
    PurM; PurM (Aminoimidazole Ribonucleotide [AIR] synthetase), one of eleven enzymes required for purine biosynthesis, catalyzes the conversion of formylglycinamide ribonucleotide (FGAM) and ATP to AIR, ADP, and Pi, the fifth step in de novo purine biosynthesis. ...
    cd08645
    Location:809 → 991
    FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
    PRK05385
    Location:435 → 766
    PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
    TIGR00877
    Location:4 → 426
    purD; phosphoribosylamine--glycine ligase
    pfam01071
    Location:105 → 298
    GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
    pfam02843
    Location:334 → 424
    GARS_C; Phosphoribosylglycinamide synthetase, C domain
    pfam02844
    Location:4 → 104
    GARS_N; Phosphoribosylglycinamide synthetase, N domain
  2. NM_001136005.1 → NP_001129477.1 trifunctional purine biosynthetic protein adenosine-3 isoform 1
    See identical proteins and their annotated locations for NP_001129477.1
    Status: REVIEWED
    Description
    Transcript Variant: This variant (3) contains a different segment for its 5' UTR, compared to variant 1. Variants 1, 3, and 4 encode the same protein.
    Source sequence(s)
    [AK292560, AK292897, BM172468, BQ010035](/nuccore/AK292560, AK292897, BM172468, BQ010035)
    Consensus CDS
    CCDS13627.1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7
    Related
    ENSP00000371253.3, ENST00000381831.7
    Conserved Domains (7) summary
    cd02196
    Location:469 → 767
    PurM; PurM (Aminoimidazole Ribonucleotide [AIR] synthetase), one of eleven enzymes required for purine biosynthesis, catalyzes the conversion of formylglycinamide ribonucleotide (FGAM) and ATP to AIR, ADP, and Pi, the fifth step in de novo purine biosynthesis. ...
    cd08645
    Location:809 → 991
    FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
    PRK05385
    Location:435 → 766
    PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
    TIGR00877
    Location:4 → 426
    purD; phosphoribosylamine--glycine ligase
    pfam01071
    Location:105 → 298
    GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
    pfam02843
    Location:334 → 424
    GARS_C; Phosphoribosylglycinamide synthetase, C domain
    pfam02844
    Location:4 → 104
    GARS_N; Phosphoribosylglycinamide synthetase, N domain
  3. NM_001136006.1 → NP_001129478.1 trifunctional purine biosynthetic protein adenosine-3 isoform 1
    See identical proteins and their annotated locations for NP_001129478.1
    Status: REVIEWED
    Description
    Transcript Variant: This variant (4) contains a different segment for its 5' UTR, compared to variant 1. Variants 1, 3, and 4 encode the same protein.
    Source sequence(s)
    [AB208785, AK292897, BQ010035, DB062974](/nuccore/AB208785, AK292897, BQ010035, DB062974)
    Consensus CDS
    CCDS13627.1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7
    Related
    ENSP00000371261.3, ENST00000381839.7
    Conserved Domains (7) summary
    cd02196
    Location:469 → 767
    PurM; PurM (Aminoimidazole Ribonucleotide [AIR] synthetase), one of eleven enzymes required for purine biosynthesis, catalyzes the conversion of formylglycinamide ribonucleotide (FGAM) and ATP to AIR, ADP, and Pi, the fifth step in de novo purine biosynthesis. ...
    cd08645
    Location:809 → 991
    FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
    PRK05385
    Location:435 → 766
    PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
    TIGR00877
    Location:4 → 426
    purD; phosphoribosylamine--glycine ligase
    pfam01071
    Location:105 → 298
    GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
    pfam02843
    Location:334 → 424
    GARS_C; Phosphoribosylglycinamide synthetase, C domain
    pfam02844
    Location:4 → 104
    GARS_N; Phosphoribosylglycinamide synthetase, N domain
  4. NM_175085.3 → NP_780294.1 trifunctional purine biosynthetic protein adenosine-3 isoform 2
    See identical proteins and their annotated locations for NP_780294.1
    Status: REVIEWED
    Description
    Transcript Variant: This variant (2) is missing 3' end exons, compared to variant 1, which results in a shorter protein (isoform 2) compared to isoform 1.
    Source sequence(s)
    [BC038958, BQ477393, DB236855](/nuccore/BC038958, BQ477393, DB236855)
    Consensus CDS
    CCDS13628.1
    UniProtKB/TrEMBL
    Q15374
    Related
    ENSP00000354388.5, ENST00000361093.9
    Conserved Domains (4) summary
    TIGR00877
    Location:4 → 426
    purD; phosphoribosylamine--glycine ligase
    pfam01071
    Location:105 → 298
    GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
    pfam02843
    Location:334 → 424
    GARS_C; Phosphoribosylglycinamide synthetase, C domain
    pfam02844
    Location:4 → 104
    GARS_N; Phosphoribosylglycinamide synthetase, N domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly
    Range
    33503931..33542893 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440743.1 → XP_047296699.1 trifunctional purine biosynthetic protein adenosine-3 isoform X1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7
  2. XM_006723990.3 → XP_006724053.1 trifunctional purine biosynthetic protein adenosine-3 isoform X1
    See identical proteins and their annotated locations for XP_006724053.1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7
    Conserved Domains (7) summary
    cd02196
    Location:469 → 767
    PurM; PurM (Aminoimidazole Ribonucleotide [AIR] synthetase), one of eleven enzymes required for purine biosynthesis, catalyzes the conversion of formylglycinamide ribonucleotide (FGAM) and ATP to AIR, ADP, and Pi, the fifth step in de novo purine biosynthesis. ...
    cd08645
    Location:809 → 991
    FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
    PRK05385
    Location:435 → 766
    PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
    TIGR00877
    Location:4 → 426
    purD; phosphoribosylamine--glycine ligase
    pfam01071
    Location:105 → 298
    GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
    pfam02843
    Location:334 → 424
    GARS_C; Phosphoribosylglycinamide synthetase, C domain
    pfam02844
    Location:4 → 104
    GARS_N; Phosphoribosylglycinamide synthetase, N domain
  3. XM_011529526.3 → XP_011527828.1 trifunctional purine biosynthetic protein adenosine-3 isoform X1
    See identical proteins and their annotated locations for XP_011527828.1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7
    Conserved Domains (7) summary
    cd02196
    Location:469 → 767
    PurM; PurM (Aminoimidazole Ribonucleotide [AIR] synthetase), one of eleven enzymes required for purine biosynthesis, catalyzes the conversion of formylglycinamide ribonucleotide (FGAM) and ATP to AIR, ADP, and Pi, the fifth step in de novo purine biosynthesis. ...
    cd08645
    Location:809 → 991
    FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
    PRK05385
    Location:435 → 766
    PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
    TIGR00877
    Location:4 → 426
    purD; phosphoribosylamine--glycine ligase
    pfam01071
    Location:105 → 298
    GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
    pfam02843
    Location:334 → 424
    GARS_C; Phosphoribosylglycinamide synthetase, C domain
    pfam02844
    Location:4 → 104
    GARS_N; Phosphoribosylglycinamide synthetase, N domain
  4. XM_006723989.3 → XP_006724052.1 trifunctional purine biosynthetic protein adenosine-3 isoform X1
    See identical proteins and their annotated locations for XP_006724052.1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7
    Conserved Domains (7) summary
    cd02196
    Location:469 → 767
    PurM; PurM (Aminoimidazole Ribonucleotide [AIR] synthetase), one of eleven enzymes required for purine biosynthesis, catalyzes the conversion of formylglycinamide ribonucleotide (FGAM) and ATP to AIR, ADP, and Pi, the fifth step in de novo purine biosynthesis. ...
    cd08645
    Location:809 → 991
    FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
    PRK05385
    Location:435 → 766
    PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
    TIGR00877
    Location:4 → 426
    purD; phosphoribosylamine--glycine ligase
    pfam01071
    Location:105 → 298
    GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
    pfam02843
    Location:334 → 424
    GARS_C; Phosphoribosylglycinamide synthetase, C domain
    pfam02844
    Location:4 → 104
    GARS_N; Phosphoribosylglycinamide synthetase, N domain
  5. XM_005260941.3 → XP_005260998.1 trifunctional purine biosynthetic protein adenosine-3 isoform X1
    See identical proteins and their annotated locations for XP_005260998.1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7
    Conserved Domains (7) summary
    cd02196
    Location:469 → 767
    PurM; PurM (Aminoimidazole Ribonucleotide [AIR] synthetase), one of eleven enzymes required for purine biosynthesis, catalyzes the conversion of formylglycinamide ribonucleotide (FGAM) and ATP to AIR, ADP, and Pi, the fifth step in de novo purine biosynthesis. ...
    cd08645
    Location:809 → 991
    FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
    PRK05385
    Location:435 → 766
    PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
    TIGR00877
    Location:4 → 426
    purD; phosphoribosylamine--glycine ligase
    pfam01071
    Location:105 → 298
    GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
    pfam02843
    Location:334 → 424
    GARS_C; Phosphoribosylglycinamide synthetase, C domain
    pfam02844
    Location:4 → 104
    GARS_N; Phosphoribosylglycinamide synthetase, N domain

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315970.2 Reference GRCh38.p14 ALT_REF_LOCI_1
    Range
    108061..115588 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0
    Range
    31885765..31924746 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324432.1 → XP_054180407.1 trifunctional purine biosynthetic protein adenosine-3 isoform X1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7
  2. XM_054324433.1 → XP_054180408.1 trifunctional purine biosynthetic protein adenosine-3 isoform X1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7
  3. XM_054324434.1 → XP_054180409.1 trifunctional purine biosynthetic protein adenosine-3 isoform X1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7
  4. XM_054324436.1 → XP_054180411.1 trifunctional purine biosynthetic protein adenosine-3 isoform X1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7
  5. XM_054324435.1 → XP_054180410.1 trifunctional purine biosynthetic protein adenosine-3 isoform X1
    UniProtKB/Swiss-Prot
    A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
    UniProtKB/TrEMBL
    Q3B7A7