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

Gene ID: 10840, updated on 27-Nov-2024

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; AllianceGenome:HGNC:3978
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
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Genomic context

See ALDH1L1 in Genome Data Viewer
Location:
3q21.3
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (126103570..126197945, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (128835963..128930120, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (125822413..125900029, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ALG1 like 1, pseudogene Neighboring gene rhophilin associated tail protein 1B Neighboring gene ReSE screen-validated silencer GRCh37_chr3:125736296-125736478 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:125740258-125741040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125744116-125744616 Neighboring gene solute carrier family 41 member 3 Neighboring gene uncharacterized LOC124909425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125777675-125778174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14672 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14673 Neighboring gene ALDH1L1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125822083-125822904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125831607-125832121 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125847779-125848549 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125850681-125851498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125855703-125856203 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_64577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125876969-125877469 Neighboring gene uncharacterized LOC105374083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125899089-125899844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125899845-125900598 Neighboring gene RNA, U1 small nuclear 30, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2719 Neighboring gene ALDH1L1 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20437 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:125926972-125928171 Neighboring gene uncharacterized LOC124909426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125932350-125932862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:125977069-125977976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:125985551-125986260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:125986261-125986971 Neighboring gene uncharacterized LOC107986124 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:126006839-126007384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:126007385-126007929 Neighboring gene KLF transcription 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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • DKFZp781N0997

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 formyltetrahydrofolate dehydrogenase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
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 10-formyltetrahydrofolate catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
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 one-carbon metabolic process IEA
Inferred from Electronic Annotation
more info
 

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
XP_054201003.1
XP_054201004.1
XP_054201005.1
XP_054201006.1
XP_054201007.1

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_012260.2 RefSeqGene

    Range
    22359..99375
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001270364.2NP_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
    Consensus CDS
    CCDS58851.1
    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_001270365.2NP_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
    Consensus CDS
    CCDS58850.1
    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_012190.4NP_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
    B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
    UniProtKB/TrEMBL
    Q53H87
    Related
    ENSP00000377083.3, ENST00000393434.7
    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_072979.2 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)
    AK222694, BC027241, DC342268
    Related
    ENST00000393431.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    126103570..126197945 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453325.2XP_024309093.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

    UniProtKB/Swiss-Prot
    B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
    UniProtKB/TrEMBL
    Q53H87
    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_011512355.2XP_011510657.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

    See identical proteins and their annotated locations for XP_011510657.1

    UniProtKB/Swiss-Prot
    B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
    UniProtKB/TrEMBL
    Q53H87
    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
  3. XM_017005613.3XP_016861102.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X2

    UniProtKB/TrEMBL
    Q53H87
  4. XM_006713481.4XP_006713544.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

    See identical proteins and their annotated locations for XP_006713544.1

    UniProtKB/Swiss-Prot
    B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
    UniProtKB/TrEMBL
    Q53H87
    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_017005614.3XP_016861103.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X3

    UniProtKB/TrEMBL
    Q53H87

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    128835963..128930120 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345030.1XP_054201005.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

    UniProtKB/Swiss-Prot
    B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
  2. XM_054345029.1XP_054201004.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

    UniProtKB/Swiss-Prot
    B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
  3. XM_054345031.1XP_054201006.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X2

  4. XM_054345028.1XP_054201003.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X1

    UniProtKB/Swiss-Prot
    B4DG36, E9PBX3, O75891, Q68CS1, Q8TBP8
  5. XM_054345032.1XP_054201007.1  cytosolic 10-formyltetrahydrofolate dehydrogenase isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_144776.1: Suppressed sequence

    Description
    NM_144776.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.