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    ALDH1L2 aldehyde dehydrogenase 1 family member L2 [ Homo sapiens (human) ]

    Gene ID: 160428, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ALDH1L2provided by HGNC
    Official Full Name
    aldehyde dehydrogenase 1 family member L2provided by HGNC
    Primary source
    HGNC:HGNC:26777
    See related
    Ensembl:ENSG00000136010 MIM:613584; AllianceGenome:HGNC:26777
    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
    mtFDH
    Summary
    This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]
    Expression
    Ubiquitous expression in pancreas (RPKM 5.6), salivary gland (RPKM 2.9) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ALDH1L2 in Genome Data Viewer
    Location:
    12q23.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (105019790..105084458, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (104981395..105046228, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (105413568..105478236, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369952 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:105379748-105380260 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:105380261-105380771 Neighboring gene keratin 18 pseudogene 20 Neighboring gene NOP protein chaperone 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:105392867-105393367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4802 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:105454275-105455474 Neighboring gene uncharacterized LOC124903005 Neighboring gene Sharpr-MPRA regulatory region 9297 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:105477079-105477879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4803 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:105486286-105486900 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6941 Neighboring gene uncharacterized LOC414300 Neighboring gene WASH complex subunit 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder. You M, et al. Clin Genet, 2024 May. PMID 38193334,
    2. ALDH1L2 regulation of formate, formyl-methionine, and ROS controls cancer cell migration and metastasis. Hennequart M, et al. Cell Rep, 2023 Jun 27. PMID 37245210
    3. Acyl carrier protein-specific 4'-phosphopantetheinyl transferase activates 10-formyltetrahydrofolate dehydrogenase. Strickland KC, et al. J Biol Chem, 2010 Jan 15. PMID 19933275, Free PMC Article
    4. FOXO1 induced fatty acid oxidation in hepatic cells by targeting ALDH1L2. Cheng J, et al. J Gastroenterol Hepatol, 2024 Oct. PMID 38923573
    5. ALDH1L2 is the mitochondrial homolog of 10-formyltetrahydrofolate dehydrogenase. Krupenko NI, et al. J Biol Chem, 2010 Jul 23. PMID 20498374, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FOXO1 induced fatty acid oxidation in hepatic cells by targeting ALDH1L2.
      Title: FOXO1 induced fatty acid oxidation in hepatic cells by targeting ALDH1L2.
    2. Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.
      Title: Further delineation of the phenotypic and metabolomic profile of ALDH1L2-related neurodevelopmental disorder.
    3. ALDH1L2 regulation of formate, formyl-methionine, and ROS controls cancer cell migration and metastasis.
      Title: ALDH1L2 regulation of formate, formyl-methionine, and ROS controls cancer cell migration and metastasis.
    4. ALDH1L2 has enzymatic properties similar to its cytosolic counterpart
      Title: Enzymatic properties of ALDH1L2, a mitochondrial 10-formyltetrahydrofolate dehydrogenase.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    6. a gene at chromosome locus 12q24.11 of the human genome, the product of which has 74% sequence similarity with cytosolic FDH
      Title: ALDH1L2 is the mitochondrial homolog of 10-formyltetrahydrofolate dehydrogenase.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Our study identifies human PPT as the FDH-modifying enzyme and supports the hypothesis that mammals utilize a single enzyme for all phosphopantetheinylation reactions.
      Title: Acyl carrier protein-specific 4'-phosphopantetheinyl transferase activates 10-formyltetrahydrofolate dehydrogenase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of aldehyde dehydrogenase 1 family, member L2 (ALDH1L2) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36769, FLJ38508, MGC119536, MGC119537, DKFZp686M064, DKFZp686A16126, DKFZp686P14145

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 10-formyltetrahydrofolate catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in folic acid metabolic 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 extracellular exosome HDA PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial 10-formyltetrahydrofolate dehydrogenase
    Names
    10-formyltetrahydrofolate dehydrogenase ALDH1L2
    aldehyde dehydrogenase family 1 member L2, mitochondrial
    mitochondrial 10-FTHFDH
    probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2
    NP_001029345.2
    XP_011536290.1
    XP_011536291.1
    XP_016874379.1
    XP_047284362.1
    XP_047284363.1
    XP_054227214.1
    XP_054227215.1
    XP_054227216.1
    XP_054227217.1
    XP_054227218.1

    NCBI Reference Sequences (RefSeq)

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    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_012748.1 RefSeqGene

      Range
      5106..69774
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001034173.4 → NP_001029345.2  mitochondrial 10-formyltetrahydrofolate dehydrogenase precursor

      See identical proteins and their annotated locations for NP_001029345.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes a functional protein.
      Source sequence(s)
      AC090051, AK300373, BC103935, CA418450
      Consensus CDS
      CCDS31891.1
      UniProtKB/Swiss-Prot
      Q3SY68, Q3SY69, Q68D62, Q6AI55, Q8N922
      UniProtKB/TrEMBL
      B4DTU7
      Related
      ENSP00000258494.9, ENST00000258494.14
      Conserved Domains (5) summary
      cd07140
      Location:439 → 923
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08647
      Location:23 → 225
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:228 → 327
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      COG0223
      Location:22 → 326
      Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
      pfam00550
      Location:346 → 390
      PP-binding; Phosphopantetheine attachment site

    RNA

    1. NR_027752.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has alternate splice sites, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay (NMD) candidate, and is unlikely to make a functional protein.
      Source sequence(s)
      AC090051, BC103935, CA418450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      105019790..105084458 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428406.1 → XP_047284362.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X1

      UniProtKB/TrEMBL
      B4DTU7

    2. XM_047428407.1 → XP_047284363.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X2

      UniProtKB/TrEMBL
      B4DTU7
      Related
      ENST00000549335.5

    3. XM_011537988.4 → XP_011536290.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X3

      Conserved Domains (5) summary
      cd08647
      Location:23 → 225
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:228 → 327
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      COG0223
      Location:22 → 326
      Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
      pfam00550
      Location:346 → 390
      PP-binding; Phosphopantetheine attachment site
      cl11961
      Location:439 → 621
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    4. XM_011537989.4 → XP_011536291.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X5

      UniProtKB/Swiss-Prot
      Q3SY69
      Conserved Domains (5) summary
      cd08647
      Location:23 → 225
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:228 → 327
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      COG0223
      Location:22 → 326
      Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
      pfam00550
      Location:346 → 390
      PP-binding; Phosphopantetheine attachment site
      cl11961
      Location:439 → 513
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    5. XM_017018890.3 → XP_016874379.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      104981395..105046228 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371239.1 → XP_054227214.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X1

      UniProtKB/TrEMBL
      B4DTU7

    2. XM_054371240.1 → XP_054227215.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X2

      UniProtKB/TrEMBL
      B4DTU7

    3. XM_054371241.1 → XP_054227216.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X3

    4. XM_054371243.1 → XP_054227218.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X5

    5. XM_054371242.1 → XP_054227217.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3SY69.2 GenPept UniProtKB/Swiss-Prot:Q3SY69

    Gene LinkOut

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