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

Gene ID: 10840, updated on 3-Jan-2019

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
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 Apr 4 07:08:55 2018

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 
formyltetrahydrofolate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
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, ENST00000273450.7
    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, ENST00000452905.6
    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, ENST00000393434.6
    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

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
    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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