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

    Gene ID: 10840, updated on 5-Aug-2018

    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; Vega:OTTHUMG00000125551
    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

    Genomic context

    See ALDH1L1 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (126103561..126197758, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (125822404..125900029, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 41 member 3 Neighboring gene uncharacterized LOC105374085 Neighboring gene uncharacterized LOC112267887 Neighboring gene ALDH1L1 antisense RNA 1 Neighboring gene uncharacterized LOC105374083 Neighboring gene RNA, U1 small nuclear 30, pseudogene Neighboring gene ALDH1L1 antisense RNA 2 Neighboring gene uncharacterized LOC107986124 Neighboring gene uncharacterized LOC105374088 Neighboring gene Kruppel like 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
    NHGRI GWA Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    NHGRI GWA 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.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp781N0997

    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
    PubMed 
    catalytic activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    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

    NCBI Reference Sequences (RefSeq)

    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_012260.1 RefSeqGene

      Range
      4841..82082
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001270364.1NP_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, AK222694
      Consensus CDS
      CCDS58851.1
      UniProtKB/Swiss-Prot
      O75891
      UniProtKB/TrEMBL
      Q53H87
      Related
      ENSP00000273450.3, OTTHUMP00000155221, ENST00000273450.7, OTTHUMT00000246897
      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_001270365.1NP_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, DC342268
      Consensus CDS
      CCDS58850.1
      UniProtKB/Swiss-Prot
      O75891
      UniProtKB/TrEMBL
      Q53H87
      Related
      ENSP00000395881.2, OTTHUMP00000222724, ENST00000452905.6, OTTHUMT00000370527
      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_012190.3NP_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
      O75891
      UniProtKB/TrEMBL
      Q53H87
      Related
      ENSP00000377083.2, OTTHUMP00000214696, ENST00000393434.6, OTTHUMT00000354391
      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_072979.1 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)
      AC079848, AK222694, BC027241, DC342268
      Related
      ENST00000393431.6

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      126103561..126197758 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      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
    2. XM_011512355.1XP_011510657.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

      See identical proteins and their annotated locations for XP_011510657.1

      UniProtKB/Swiss-Prot
      O75891
      Related
      OTTHUMP00000214700, OTTHUMT00000354395
      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_017005613.2XP_016861102.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X2

    4. XM_006713481.3XP_006713544.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

      See identical proteins and their annotated locations for XP_006713544.1

      UniProtKB/Swiss-Prot
      O75891
      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_017005614.2XP_016861103.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X3

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