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

Gene ID: 160428, updated on 16-Apr-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
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Genomic context

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Location:
12q23.3
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (105019790..105084458, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (104981395..105046228, complement)
105.20220307 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. 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
  2. ALDH1L2 is the mitochondrial homolog of 10-formyltetrahydrofolate dehydrogenase. Krupenko NI, et al. J Biol Chem, 2010 Jul 23. PMID 20498374, Free PMC Article
  3. Enzymatic properties of ALDH1L2, a mitochondrial 10-formyltetrahydrofolate dehydrogenase. Strickland KC, et al. Chem Biol Interact, 2011 May 30. PMID 21238436, Free PMC Article
  4. Identification and analysis of intermediate size noncoding RNAs in the human fetal brain. Yan D, et al. PLoS One, 2011. PMID 21789175, Free PMC Article
  5. Proteomic analysis identifies novel binding partners of BAP1. Baas R, et al. PLoS One, 2021. PMID 34591877, Free PMC Article

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. ALDH1L2 has enzymatic properties similar to its cytosolic counterpart
    Title: Enzymatic properties of ALDH1L2, a mitochondrial 10-formyltetrahydrofolate dehydrogenase.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  5. 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.
  6. 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.
  7. 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)

Genotypes

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 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_2023_10

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

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

    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

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

  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

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