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

    Gene ID: 160428, updated on 6-Jun-2017
    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; Vega:OTTHUMG00000169823
    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]
    Orthologs
    Location:
    12q23.3
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (105019784..105084609, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (105413562..105478341, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369952 Neighboring gene keratin 18 pseudogene 20 Neighboring gene chromosome 12 open reading frame 45 Neighboring gene uncharacterized LOC414300 Neighboring gene WASH complex subunit 4

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aldehyde dehydrogenase (NAD) activity EXP
    Inferred from Experiment
    more info
    PubMed 
    aldehyde dehydrogenase (NAD) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    formyltetrahydrofolate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    hydroxymethyl-, formyl- and related transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    10-formyltetrahydrofolate catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    folic acid metabolic process TAS
    Traceable Author Statement
    more info
     
    one-carbon metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    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_011536288.1
    XP_011536290.1
    XP_011536291.1
    XP_016874378.1
    XP_016874379.1

    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
      5001..69780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001034173.3NP_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)
      AC016257, AC090051, AK300373, BC103935, CA418450
      Consensus CDS
      CCDS31891.1
      UniProtKB/Swiss-Prot
      Q3SY69
      UniProtKB/TrEMBL
      B4DTU7
      Related
      ENSP00000258494.9, OTTHUMP00000242225, ENST00000258494.13, OTTHUMT00000406098
      Conserved Domains (5) summary
      cd07140
      Location:439923
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08647
      Location:23225
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:228327
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      COG0223
      Location:22326
      Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
      pfam00550
      Location:346390
      PP-binding; Phosphopantetheine attachment site

    RNA

    1. NR_027752.1 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)
      AC016257, AC090051, BC103935, CA418450
      Related
      ENST00000549335.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      105019784..105084609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018889.1XP_016874378.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X1

      Conserved Domains (4) summary
      cd07140
      Location:293777
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08703
      Location:82181
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      pfam00550
      Location:200244
      PP-binding; Phosphopantetheine attachment site
      cl00395
      Location:279
      FMT_core; Formyltransferase, catalytic core domain
    2. XM_011537986.2XP_011536288.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X1

      See identical proteins and their annotated locations for XP_011536288.1

      Conserved Domains (4) summary
      cd07140
      Location:293777
      ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
      cd08703
      Location:82181
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      pfam00550
      Location:200244
      PP-binding; Phosphopantetheine attachment site
      cl00395
      Location:279
      FMT_core; Formyltransferase, catalytic core domain
    3. XM_011537988.2XP_011536290.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X2

      Conserved Domains (5) summary
      cd08647
      Location:23225
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:228327
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      COG0223
      Location:22326
      Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
      pfam00550
      Location:346390
      PP-binding; Phosphopantetheine attachment site
      cl11961
      Location:439621
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
    4. XM_017018890.1XP_016874379.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X3

    5. XM_011537989.2XP_011536291.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X4

      UniProtKB/Swiss-Prot
      Q3SY69
      Conserved Domains (5) summary
      cd08647
      Location:23225
      FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
      cd08703
      Location:228327
      FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
      COG0223
      Location:22326
      Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
      pfam00550
      Location:346390
      PP-binding; Phosphopantetheine attachment site
      cl11961
      Location:439513
      ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      105379314..105443992 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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