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    ALDH1L1 aldehyde dehydrogenase 1 family member L1 [ Homo sapiens (human) ]

    Gene ID: 10840, updated on 17-Jun-2024

    Summary

    Official Symbol
    ALDH1L1provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 1 family member L1provided by HGNC
    Primary source
    HGNC:HGNC:3978
    See related
    Ensembl:ENSG00000144908 MIM:600249; AllianceGenome:HGNC:3978
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FDH; FTHFD; 10-fTHF; 10-FTHFDH
    Summary
    The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
    Expression
    Biased expression in liver (RPKM 99.3), kidney (RPKM 65.2) and 8 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALDH1L1 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (126103570..126197945, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (128835963..128930120, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (125822413..125900029, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 41 member 3 Neighboring gene uncharacterized LOC124909425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125777675-125778174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14672 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14673 Neighboring gene ALDH1L1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125822083-125822904 Neighboring gene ALDH1L1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125831607-125832121 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125847779-125848549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125850681-125851498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125855703-125856203 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_64577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125876969-125877469 Neighboring gene uncharacterized LOC105374083 Neighboring gene RNA, U1 small nuclear 30, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125899089-125899844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125899845-125900598 Neighboring gene Sharpr-MPRA regulatory region 2719 Neighboring gene ALDH1L1 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20437 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:125926972-125928171 Neighboring gene uncharacterized LOC124909426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125932350-125932862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125977069-125977976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:125985551-125986260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:125986261-125986971 Neighboring gene uncharacterized LOC107986124 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126006839-126007384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126007385-126007929 Neighboring gene KLF transcription factor 15

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
    EBI GWAS Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp781N0997

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aldehyde dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables formyltetrahydrofolate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables formyltetrahydrofolate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables formyltetrahydrofolate dehydrogenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in 10-formyltetrahydrofolate catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in 10-formyltetrahydrofolate catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in NADPH regeneration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    cytosolic 10-formyltetrahydrofolate dehydrogenase
    Names
    10-formyltetrahydrofolate dehydrogenase
    MER57B-ALDH1L1
    NP_001257293.1
    NP_001257294.1
    NP_036322.2
    XP_006713544.1
    XP_011510657.1
    XP_016861102.1
    XP_016861103.1
    XP_024309093.1
    XP_054201003.1
    XP_054201004.1
    XP_054201005.1
    XP_054201006.1
    XP_054201007.1

    NCBI Reference Sequences (RefSeq)

    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 above.

    Genomic

    1. NG_012260.2 RefSeqGene

      Range
      22359..99375
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001270364.2NP_001257293.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform 1

      See identical proteins and their annotated locations for NP_001257293.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1).
      Source sequence(s)
      AC079848
      Consensus CDS
      CCDS58851.1
      UniProtKB/TrEMBL
      Q53H87
      Related
      ENSP00000273450.3, ENST00000273450.7
      Conserved Domains (5) summary
      cd07140
      Location:427912
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08647
      Location:11213
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:216316
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      COG0223
      Location:10319
      Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
      pfam00550
      Location:335401
      PP-binding; Phosphopantetheine attachment site
    2. NM_001270365.2NP_001257294.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the both the 5' UTR and the coding sequence, but maintains the reading frame, compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC079848, AK222694, AK294392
      Consensus CDS
      CCDS58850.1
      UniProtKB/TrEMBL
      Q53H87
      Related
      ENSP00000395881.2, ENST00000452905.6
      Conserved Domains (4) summary
      cd07140
      Location:316801
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08703
      Location:116205
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      pfam00550
      Location:224290
      PP-binding; Phosphopantetheine attachment site
      cl00395
      Location:1128
      FMT_core; Formyltransferase, catalytic core domain
    3. NM_012190.4NP_036322.2  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform 2

      See identical proteins and their annotated locations for NP_036322.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR, lacks an in-frame portion of the 5' coding region, and initiates translation at an alternate in-frame downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC079848, AF052732, AK222694, DC342268
      Consensus CDS
      CCDS3034.1
      UniProtKB/Swiss-Prot
      B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
      UniProtKB/TrEMBL
      Q53H87
      Related
      ENSP00000377083.3, ENST00000393434.7
      Conserved Domains (4) summary
      cd07140
      Location:417902
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08647
      Location:1203
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:206306
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      pfam00550
      Location:325391
      PP-binding; Phosphopantetheine attachment site

    RNA

    1. NR_072979.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK222694, BC027241, DC342268
      Related
      ENST00000393431.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      126103570..126197945 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453325.2XP_024309093.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

      UniProtKB/Swiss-Prot
      B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
      UniProtKB/TrEMBL
      Q53H87
      Conserved Domains (4) summary
      cd07140
      Location:417902
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08647
      Location:1203
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:206306
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      pfam00550
      Location:325391
      PP-binding; Phosphopantetheine attachment site
    2. XM_011512355.2XP_011510657.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

      See identical proteins and their annotated locations for XP_011510657.1

      UniProtKB/Swiss-Prot
      B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
      UniProtKB/TrEMBL
      Q53H87
      Related
      ENSP00000420293.1, ENST00000472186.5
      Conserved Domains (4) summary
      cd07140
      Location:417902
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08647
      Location:1203
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:206306
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      pfam00550
      Location:325391
      PP-binding; Phosphopantetheine attachment site
    3. XM_017005613.3XP_016861102.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X2

      UniProtKB/TrEMBL
      Q53H87
    4. XM_006713481.4XP_006713544.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

      See identical proteins and their annotated locations for XP_006713544.1

      UniProtKB/Swiss-Prot
      B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
      UniProtKB/TrEMBL
      Q53H87
      Conserved Domains (4) summary
      cd07140
      Location:417902
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08647
      Location:1203
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:206306
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      pfam00550
      Location:325391
      PP-binding; Phosphopantetheine attachment site
    5. XM_017005614.3XP_016861103.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X3

      UniProtKB/TrEMBL
      Q53H87

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      128835963..128930120 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345030.1XP_054201005.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

      UniProtKB/Swiss-Prot
      B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
      UniProtKB/TrEMBL
      Q53H87
    2. XM_054345029.1XP_054201004.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

      UniProtKB/Swiss-Prot
      B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
      UniProtKB/TrEMBL
      Q53H87
    3. XM_054345031.1XP_054201006.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X2

      UniProtKB/TrEMBL
      Q53H87
    4. XM_054345028.1XP_054201003.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

      UniProtKB/Swiss-Prot
      B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
      UniProtKB/TrEMBL
      Q53H87
    5. XM_054345032.1XP_054201007.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X3

      UniProtKB/TrEMBL
      Q53H87

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_144776.1: Suppressed sequence

      Description
      NM_144776.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.