Human Gene ALDH1L1 (ENST00000455064.6) from GENCODE V46
| Description: Cytosolic 10-formyltetrahydrofolate dehydrogenase that catalyzes the NADP(+)-dependent conversion of 10-formyltetrahydrofolate to tetrahydrofolate and carbon dioxide (PubMed:19933275, PubMed:21238436). May also have an NADP(+)-dependent aldehyde dehydrogenase activity towards formaldehyde, acetaldehyde, propionaldehyde, and benzaldehyde (By similarity). (from UniProt O75891) RefSeq Summary (NM_012190): 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]. Gencode Transcript: ENST00000455064.6 Gencode Gene: ENSG00000144908.14 Transcript (Including UTRs) Position:hg38 chr3:126,103,562-126,180,802Size:77,241Total Exon Count:22Strand:- Coding Region Position:hg38 chr3:126,130,248-126,160,979Size:30,732Coding Exon Count:12
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Comments and Description Text from UniProtKB
| ID: AL1L1_HUMAN DESCRIPTION: RecName: Full=Cytosolic 10-formyltetrahydrofolate dehydrogenase; Short=10-FTHFDH; Short=FDH; EC=1.5.1.6; AltName: Full=Aldehyde dehydrogenase family 1 member L1; CATALYTIC ACTIVITY: 10-formyltetrahydrofolate + NADP(+) + H(2)O = tetrahydrofolate + CO(2) + NADPH. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Highly expressed in liver, pancreas and kidney. SIMILARITY: In the N-terminal section; belongs to the GART family. SIMILARITY: In the C-terminal section; belongs to the aldehyde dehydrogenase family. ALDH1L subfamily. SIMILARITY: Contains 1 acyl carrier domain. SEQUENCE CAUTION: Sequence=CAH18667.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; |
Primer design for this transcript
Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA. Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence. To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3 |
MalaCards Disease Associations
| MalaCards Gene Search: ALDH1L1 Diseases sorted by gene-association score: methanol poisoning (3), pilocytic astrocytoma (2), congenital hydrocephalus (2), neural tube defects (2) |
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
| Highest median expression: 57.48 RPKM in Liver Total median expression: 491.69 RPKM
View in GTEx track of Genome BrowserView at GTEx portalView GTEx Body Map |
Microarray Expression Data mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have. | |||||||||||||||||||||||
Protein Domain and Structure Information
| InterPro Domains: Graphical view of domain structure IPR011407 - 10_FTHF_DH IPR009081 - Acyl_carrier_prot-like IPR016161 - Ald_DH/histidinol_DH IPR016163 - Ald_DH_C IPR016160 - Ald_DH_CS IPR016162 - Ald_DH_N IPR015590 - Aldehyde_DH_dom IPR005793 - Formyl_trans_C IPR002376 - Formyl_transf_N IPR011034 - Formyl_transferase_C-like IPR001555 - GART_AS Pfam Domains: Protein Data Bank (PDB) 3-D Structure
ModBase Predicted Comparative 3D Structure on O75891
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Orthologous Genes in Other Species
| Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene. |
Gene Ontology (GO) Annotations with Structured Vocabulary
| Molecular Function: GO:0003824 catalytic activity GO:0004029 aldehyde dehydrogenase (NAD) activity GO:0016155 formyltetrahydrofolate dehydrogenase activity GO:0016491 oxidoreductase activity GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016742 hydroxymethyl-, formyl- and related transferase activity Biological Process: Cellular Component: |
Descriptions from all associated GenBank mRNAs
| LF207285 - JP 2014500723-A/14788: Polycomb-Associated Non-Coding RNAs. MA442862 - JP 2018138019-A/14788: Polycomb-Associated Non-Coding RNAs. AK222694 - hom*o sapiens mRNA for formyltetrahydrofolate dehydrogenase isoform a variant, clone: CBR06689. CR749807 - hom*o sapiens mRNA; cDNA DKFZp781N0997 (from clone DKFZp781N0997). BC027241 - hom*o sapiens aldehyde dehydrogenase 1 family, member L1, mRNA (cDNA clone MGC:21310 IMAGE:4484301), complete cds. AK124908 - hom*o sapiens cDNA FLJ42918 fis, clone BRHIP3027137, highly similar to 10-formyltetrahydrofolate dehydrogenase (EC 1.5.1.6). AK294392 - hom*o sapiens cDNA FLJ53469 complete cds, highly similar to 10-formyltetrahydrofolate dehydrogenase (EC 1.5.1.6). AB209299 - hom*o sapiens mRNA for aldehyde dehydrogenase 1 family, member L1 variant protein. AF052732 - hom*o sapiens 10-formyltetrahydrofolate dehydrogenase mRNA, complete cds. AK222535 - hom*o sapiens mRNA for formyltetrahydrofolate dehydrogenase isoform a variant, clone: adSE01941. JD247997 - Sequence 229021 from Patent EP1572962. JD518704 - Sequence 499728 from Patent EP1572962. JD566230 - Sequence 547254 from Patent EP1572962. EU832151 - Synthetic construct hom*o sapiens clone HAIB:100067180; DKFZo008F0525 aldehyde dehydrogenase 1 family, member L1 protein (ALDH1L1) gene, encodes complete protein. EU832152 - Synthetic construct hom*o sapiens clone HAIB:100067181; DKFZo008F0625 aldehyde dehydrogenase 1 family, member L1 protein (ALDH1L1) gene, encodes complete protein. EU832244 - Synthetic construct hom*o sapiens clone HAIB:100067273; DKFZo004F0526 aldehyde dehydrogenase 1 family, member L1 protein (ALDH1L1) gene, encodes complete protein. EU832245 - Synthetic construct hom*o sapiens clone HAIB:100067274; DKFZo004F0626 aldehyde dehydrogenase 1 family, member L1 protein (ALDH1L1) gene, encodes complete protein. AB590053 - Synthetic construct DNA, clone: pFN21AB4181, hom*o sapiens ALDH1L1 gene for aldehyde dehydrogenase 1 family, member L1, without stop codon, in Flexi system. JD494387 - Sequence 475411 from Patent EP1572962. JD490319 - Sequence 471343 from Patent EP1572962. JD221026 - Sequence 202050 from Patent EP1572962. JD318796 - Sequence 299820 from Patent EP1572962. JD177970 - Sequence 158994 from Patent EP1572962. AK308112 - hom*o sapiens cDNA, FLJ98060. JD234757 - Sequence 215781 from Patent EP1572962. BC045645 - hom*o sapiens aldehyde dehydrogenase 1 family, member L1, mRNA (cDNA clone IMAGE:5267557), with apparent retained intron. JD380209 - Sequence 361233 from Patent EP1572962. JF432177 - Synthetic construct hom*o sapiens clone IMAGE:100073331 aldehyde dehydrogenase 1 family, member L1 (ALDH1L1) gene, encodes complete protein. KJ902162 - Synthetic construct hom*o sapiens clone ccsbBroadEn_11556 ALDH1L1 gene, encodes complete protein. KU178540 - hom*o sapiens aldehyde dehydrogenase 1 family member L1 isoform 1 (ALDH1L1) mRNA, partial cds, alternatively spliced. KU178541 - hom*o sapiens aldehyde dehydrogenase 1 family member L1 isoform 2 (ALDH1L1) mRNA, complete cds, alternatively spliced. KU178542 - hom*o sapiens aldehyde dehydrogenase 1 family member L1 isoform 3 (ALDH1L1) mRNA, partial cds. AK307699 - hom*o sapiens cDNA, FLJ97647. AL133015 - hom*o sapiens mRNA; cDNA DKFZp434O2417 (from clone DKFZp434O2417); partial cds. AK294530 - hom*o sapiens cDNA FLJ60492 complete cds, highly similar to 10-formyltetrahydrofolate dehydrogenase (EC 1.5.1.6). CU693256 - Synthetic construct hom*o sapiens gateway clone IMAGE:100019711 5' read ALDH1L1 mRNA. KM111188 - hom*o sapiens cell-line IM9 MER57B-ALDH1L1 mRNA, partial cds. KM111187 - hom*o sapiens cell-line Karpas422 MER57B-ALDH1L1 mRNA, partial cds. JD151058 - Sequence 132082 from Patent EP1572962. JD402176 - Sequence 383200 from Patent EP1572962. JD197870 - Sequence 178894 from Patent EP1572962. JD121901 - Sequence 102925 from Patent EP1572962. JD121900 - Sequence 102924 from Patent EP1572962. JD406784 - Sequence 387808 from Patent EP1572962. |
Biochemical and Signaling Pathways
| KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00670 - One carbon pool by folate Reactome (by CSHL, EBI, and GO) Protein O75891 (Reactome details) participates in the following event(s): R-HSA-6808496 ALDH1L1 dehydrogenates 10-formyl-THFPG to THFPG |
| Alternate Gene Symbols: AB209299, AL1L1_HUMAN, ALDH1L1 , B4DG36, E9PBX3, ENST00000455064.1, ENST00000455064.2, ENST00000455064.3, ENST00000455064.4, ENST00000455064.5, FTHFD, O75891, Q68CS1, Q8TBP8, uc062njt.1 UCSC ID: ENST00000455064.6 RefSeq Accession: NM_012190 Protein: O75891 (aka AL1L1_HUMAN) |
