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

Gene ID: 10840, updated on 16-Sep-2014
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; HPRD:02594; 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]
See ALDH1L1 in Epigenomics, MapViewer
Location:
3q21.3
Exon count:
24
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 3 NC_000003.12 (126103561..126181186, 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 rhophilin associated tail protein 1B Neighboring gene solute carrier family 41, member 3 Neighboring gene ALDH1L1 antisense RNA 1 Neighboring gene ALDH1L1 antisense RNA 2 Neighboring gene uncharacterized LOC644662 Neighboring gene Kruppel-like factor 15

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Markers

Homology

Clone Names

  • DKFZp781N0997

Gene Ontology Provided by GOA

Function Evidence Code Pubs
catalytic activity TAS
Traceable Author Statement
more info
PubMed 
formyltetrahydrofolate dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
hydroxymethyl-, formyl- and related transferase activity IEA
Inferred from Electronic Annotation
more info
 
methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 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
 
methylation IEA
Inferred from Electronic Annotation
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 vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
cytosolic 10-formyltetrahydrofolate dehydrogenase
Names
cytosolic 10-formyltetrahydrofolate dehydrogenase
MER57B-ALDH1L1
10-formyltetrahydrofolate dehydrogenase
NP_001257293.1
NP_001257294.1
NP_036322.2

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 

    Range
    4457..82082
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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, OTTHUMP00000155221, ENST00000273450, 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, OTTHUMP00000222724, ENST00000452905, 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 proteins identical to 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, OTTHUMP00000214696, ENST00000393434, OTTHUMT00000354391
    Conserved Domains (5) 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
    COG0223
    Location:1309
    Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000003.12 

    Range
    126103561..126181186
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713481.1XP_006713544.1  

    See proteins identical to XP_006713544.1

    UniProtKB/Swiss-Prot
    O75891
    Related
    ENSP00000420293, OTTHUMP00000214700, ENST00000472186, OTTHUMT00000354395
    Conserved Domains (5) 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
    COG0223
    Location:1309
    Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
    pfam00550
    Location:325391
    PP-binding; Phosphopantetheine attachment site
  2. XM_006713482.1XP_006713545.1  

    Conserved Domains (5) summary
    cd07140
    Location:415900
    ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
    cd08647
    Location:1201
    FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
    cd08703
    Location:204304
    FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
    COG0223
    Location:1307
    Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
    pfam00550
    Location:323389
    PP-binding; Phosphopantetheine attachment site

Alternate HuRef

Genomic

  1. AC_000135.1 

    Range
    123202976..123280599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 

    Range
    125785177..125862716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)