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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ALDH1L1 Gene

protein-coding GIFtS: 60
GCID: GC03M125822

aldehyde dehydrogenase 1 family, member L1

(Previous name: formyltetrahydrofolate dehydrogenase )
(Previous symbol: FTHFD)

Explore 22 diseases affiliated with
ALDH1L1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Aldehyde Dehydrogenase 1 Family, Member L1¹ ²		Formyltetrahydrofolate Dehydrogenase¹
FTHFD¹ ² ³ ⁵		10-Formyltetrahydrofolate Dehydrogenase²
10-FTHF¹		Cytosolic 10-Formyltetrahydrofolate Dehydrogenase²
10-FTHFDH² ³		EC 1.5.1.6³
FDH² ³		Aldehyde Dehydrogenase Family 1 Member L1³

External Ids:	HGNC: 3978¹	Entrez Gene: 10840²	Ensembl: ENSG00000144908⁷	OMIM: 600249⁵	UniProtKB: O75891³

Export aliases for ALDH1L1 gene to outside databases

Previous GC identifers: GC03M127306 GC03M123202

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ALDH1L1:

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)

Gene Wiki entry for ALDH1L1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for ALDH1L1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ALDH1L1 promoter sequence

Search SABiosciences Chromatin IP Primers for ALDH1L1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDH1L1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21.3 Ensembl cytogenetic band: 3q21.3 HGNC cytogenetic band: 3q21.2

ALDH1L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALDH1L1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M125822: view genomic region (about GC identifiers)

Start:	125,822,408 bp from pter	End:	125,916,837 bp from pter
Size:	94,430 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AL1L1_HUMAN, O75891 (See protein sequence)

Recommended Name: Cytosolic 10-formyltetrahydrofolate dehydrogenase

Size: 902 amino acids; 98829 Da

Subcellular location: Cytoplasm

Sequence caution: Sequence=CAH18667.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

3 PDB 3D structures from and Proteopedia for ALDH1L1:

2BW0 (3D)

2CFI (3D)

2CQ8 (3D)

Secondary accessions: B4DG36 E9PBX3 Q68CS1

Alternative splicing: 2 isoforms: O75891-1 O75891-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALDH1L1: NX_O75891

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75891

ALDH1L1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001257293.1 NP_001257294.1 NP_036322.2

ENSEMBL proteins:

ENSP00000273450 ENSP00000420293 ENSP00000395881 ENSP00000377083 ENSP00000419448

ENSP00000418905 ENSP00000418711 ENSP00000419826 ENSP00000419955 ENSP00000426594

ENSP00000426713 ENSP00000377081 ENSP00000414126

Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ALDH1L1

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--

ALDH1L1 for ontologies About GeneDecksing

ALDH1L1 Antibody Products:

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ALDH1L1 for domains About GeneDecksing

5/11 InterPro domains/families (see all 11):

IPR001555 GART_AS

IPR005793 Formyl_trans_C

IPR016162 Ald_DH_N

IPR016163 Ald_DH_C

IPR011034 Formyl_transferase_C-like

Graphical View of Domain Structure for InterPro Entry O75891

ProtoNet protein and cluster: O75891

2 Blocks protein families:

IPB002086 Aldehyde dehydrogenase

IPB005793 Formyl transferase

UniProtKB/Swiss-Prot: AL1L1_HUMAN, O75891

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: AL1L1_HUMAN, O75891

Catalytic activity: 10-formyltetrahydrofolate + NADP(+) + H(2)O = tetrahydrofolate + CO(2) + NADPH

Enzyme Number (IUBMB): EC 1.5.1.6¹

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Gene Editing
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDH1L1

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	--	--
GO:0003824	catalytic activity	TAS	10204077
GO:0008168	methyltransferase activity	IEA	--
GO:0016155	formyltetrahydrofolate dehydrogenase activity	IEA	--
GO:0016491	oxidoreductase activity	--	--

ALDH1L1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ALDH1L1:

Increased gamma-H2AX phosphory

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

One Carbon Metabolism

One Carbon Metabolism

1.00

One carbon pool by folate

0.52

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for ALDH1L1

One Carbon Metabolism

1 Kegg Pathway (Kegg details for ALDH1L1):

One carbon pool by folate

ALDH1L1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ALDH1L1

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

5/22 Interacting proteins for ALDH1L1 (O75891³ ENSP00000377083⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SET	Q01105³	I2D: score=1
YWHAB	P31946³	I2D: score=1
YWHAZ	P63104³	I2D: score=1
AMT	ENSP00000273588⁴	STRING: ENSP00000273588
DHFR	ENSP00000396308⁴	STRING: ENSP00000396308

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006730	one-carbon metabolic process	IEA	--
GO:0009058	biosynthetic process	IEA	--
GO:0009258	10-formyltetrahydrofolate catabolic process	IEA	--

ALDH1L1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ALDH1L1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ALDH1L1

6 HMDB Compounds for ALDH1L1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Carbon dioxide	Carbon oxide (see all 5)	124-38-9	--
N10-Formyl-THF	10-formyl-THF (see all 20)	2800-34-2	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--
Tetrahydrofolic acid	(6S)-Tetrahydrofolate (see all 10)	135-16-0	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

1 DrugBank Compound for ALDH1L1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Tetrahydrofolic acid	5,6,7,8-tetrahydrofolate (see all 3)	135-16-0	target	cofactor	16627483 10585460 10395731 16712799 11320079

3 Novoseek chemical compound relationships for ALDH1L1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
10-formyltetrahydrofolate	98.2	51	12684508 (5), 17057331 (3), 16014005 (2), 12351832 (2) (see all 21)
tetrahydrofolate	90.7	11	10395731 (2), 16712799 (1), 18848533 (1), 11320079 (1) (see all 5)
folate	73.2	4	16627483 (2), 8975761 (1), 19933275 (1)

Search CenterWatch for drugs/clinical trials and news about ALDH1L1 / AL1L1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ALDH1L1 gene (3 alternative transcripts):

NM_001270364.1 NM_001270365.1 NM_012190.3

Unigene Cluster for ALDH1L1:

Aldehyde dehydrogenase 1 family, member L1

Hs.434435 [show with all ESTs]

Unigene Representative Sequence: NM_012190

18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000273450 ENST00000472186 ENST00000467370(uc003ein.1) ENST00000452905

ENST00000393434(uc003eim.1 uc010hse.1 uc011bki.1) ENST00000462808

ENST00000476245(uc003eio.3) ENST00000473607(uc010hsf.1) ENST00000413612

ENST00000484724(uc003eip.1 uc011bkj.1) ENST00000493803 ENST00000490367

ENST00000460368 ENST00000488356 ENST00000509952 ENST00000511283 ENST00000393431

ENST00000455064

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Additional cDNA sequence:

AB209299.1 AF052732.1 AK222535.1 AK222694.1 AK294392.1 AK294530.1 AK307699.1 AK308112.1

BC027241.1 BC107041.2 CR749807.1 NR_072979.1

10 DOTS entries:

DT.92420823 DT.100743169 DT.312589 DT.75100741 DT.99996687 DT.40296347 DT.95267790 DT.100786803

DT.120893471 DT.92420821

24/130 AceView cDNA sequences (see all 130):

CB164663 BM705315 CR749807 BU730516 BQ636094 NM_144776 AI380584 BC027241

BE855461 CA313462 BQ882944 BM694359 NM_012190 CB155117 BU734506 BM669044

AL133015 AI970775 BX331810 AL713273 AV647807 BC045645 BX480000 CB156284

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ALDH1L1 (see all 12) About this scheme

ExUns:	1	^	2	^	3a	·	3b	·	3c	·	3d	·	3e	·	3f	^	4	^	5	^	6	^	7a	·	7b	·	7c	^	8a	·	8b	·	8c	^	9	^	10	^	11a	·	11b	^	12a	·	12b	^	13	^	14	^	15	^
SP1:															-		-				-														-										-
SP2:															-		-				-														-										-
SP3:																																			-
SP4:															-		-				-		-		-		-								-
SP5:

ExUns:	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23a	·	23b	^	24	^	25a	·	25b	^	26	^	27a	·	27b	·	27c	^	28
SP1:															-						-										-
SP2:					-										-		-				-										-
SP3:
SP4:
SP5:																					-

ECgene alternative splicing isoforms for ALDH1L1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ALDH1L1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTGCATCTT

About this image

ALDH1L1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/13 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 13)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Proximal Tubule Cells

Kidney

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Brain

Brain

Kidney

Kidney

Diencephalic Ventricular Zone

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

HyStem+BMP4-induced 7SMOO32 cells (HyStem+BMP4 inductio...)

Adipose

See ALDH1L1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ALDH1L1

SOURCE GeneReport for Unigene cluster: Hs.434435

UniProtKB/Swiss-Prot: AL1L1_HUMAN, O75891

Tissue specificity: Highly expressed in liver, pancreas and kidney

SABiosciences Custom PCR Arrays for ALDH1L1

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for ALDH1L1 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
zebrafish (Danio rerio)	Actinopterygii	Dr.12971²	Transcribed sequence with moderate similarity to protein more	80.09(n)		BI881099.1
fruit fly (Drosophila melanogaster)	Insecta	CG8665⁶	--	60(a)	1 → many	2L(21371227-21377995)
worm (Caenorhabditis elegans)	Secernentea	alh-3¹	Protein ALH-3	58.05(n) 60.4(a)		177999 NM_069653.5 NP_502054.2
thale cress (Arabidopsis thaliana)	eudicotyledons	ALDH10A9⁶ ALDH10A8⁶	betaine aldehyde dehydrogenase 1	36(a) 35(a)	possible ortholog possible ortholog	3(17786140-17790008) 1(28139009-28142744)
rice (Oryza sativa)	Liliopsida	-- SK2⁶	aldehyde dehydrogenase, putative, expressed	35(a) 35(a)	possible ortholog possible ortholog	4(22986281-22991224) 8(20377081-20383348)
E. coli (Escherichia coli)	Gamma proteobacteria	aldB⁶	aldehyde dehydrogenase B	35(a)	possible ortholog	Chromosome(3752996-3754534)

ENSEMBL Gene Tree for ALDH1L1 (if available)
TreeFam Gene Tree for ALDH1L1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ALDH1L1 gene

ALDH1L2² ALDH1A1² ALDH1A2² ENSG00000257767² ALDH1B1² ALDH7A1² ALDH2² ALDH16A1²

ALDH8A1² ALDH9A1² ALDH1A3²

8 SIMAP similar genes for ALDH1L1 using alignment to 9 protein entries: AL1L1_HUMAN (see all proteins):

DKFZp434O2417 ALDH1L2 ALDH1A2 ALDH1A1 ALDH1B1 ALDH1A3

ALDH2 ALDH9A1

ALDH1L1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs142947117^1,2	C	other	125287240(+)	`CCAGGA/C/GAGCCT`	11	S C F	mis¹		1		NA	4524
rs2003334^1,2	C,F,A,H,	--	123202575(-)	`CTTCCG/ATCTGA`	4	--	ds500¹		28		NS EA NA CSA WA	2775
rs112425559^1,2	F	--	123202751(+)	`TCCCCG/ATCTTC`	4	--	ds500¹		1		CSA	4
rs111587759^1,2		--	123202808(+)	`ACTGTC/TGCAGC`	4	--	ds500¹		1		CSA	2
rs59506403^1,2	C,F,	--	123202809(+)	`CTGTCG/ACAGCT`	4	--	ds500¹		4		NA CSA WA	242
rs4646759^1,2	C,F,H,	--	123203518(-)	`CCAGAC/GAAGGC`	4	--	int¹		12		NS EA NA WA CSA	789
rs35778079^1,2	C,	--	123203661(+)	`GCCTCG/ACAGGG`	4	--	int¹		2		NA	122
rs111776509^1,2	C,	--	123204043(+)	`GGAGAA/GGGCAG`	4	--	int¹		0	--	--	--	--
rs80059760^1,2	F,	--	123204297(+)	`GGTGGG/AACCTC`	4	--	int¹		1		EA	120
rs73198440^1,2	C,	--	123204760(+)	`CTCCAC/TGACCA`	4	--	int¹		1		NA	120

HapMap Linkage Disequilibrium report for ALDH1L1 (125822408 - 125916837 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for ALDH1L1
     2 CNVs: 68445 4352
     1 Indel: 68446
     1 Inversion: 59786

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ALDH1L1 for disorders           About GeneDecksing

OMIM gene information: 600249    OMIM disorders: --

20/22 diseases for ALDH1L1 (see all 22):    About MalaCards

diffuse large b-cell lymphoma b-cell lymphomas non-hodgkin lymphoma spina bifida

pilocytic astrocytoma hodgkin's lymphoma follicular lymphoma hyperhomocysteinemia

hydrocephalus astrocytoma pulmonary disease colorectal cancer

prostate cancer breast cancer esophagitis retinitis

prostatitis tuberculosis adenocarcinoma neural tube defect

1 Novoseek disease relationship for ALDH1L1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cancer	10.7	5	16014005 (2), 17525747 (1), 19147541 (1), 12805405 (1)

Human Genome Epidemiology (HuGE) Navigator: ALDH1L1 (23 documents)

Export disorders for ALDH1L1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ALDH1L1 gene, integrated from 9 sources (see all 69):
(articles sorted by number of sources associating them with ALDH1L1)

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Isolation and characterization of cDNA clone for human liver 10-formyltetrahydrofolate dehydrogenase. (PubMed id 10204077)^{1, 9} Hong M....Choe I.S. (1999)
Structures of the hydrolase domain of human 10-formyltetrahydrofolate dehydrogenase and its complex with a substrate analogue. (PubMed id 17057331)^{2, 9} Kursula P....Stenmark P. (2006)
Gene expression profiling of NF-1-associated and sporadic pilocytic astrocytoma identifies aldehyde dehydrogenase 1 family member L1 (ALDH1L1) as an underexpressed candidate biomarker in aggressive subtypes. (PubMed id 19018242)^{1, 9} Rodriguez F.J....Gutmann D.H. (2008)
Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence. (PubMed id 17548676)^{1, 9} Stevens V.L....Calle E.E. (2007)
Regulation of folate-mediated one-carbon metabolism by 10-formyltetrahydrofolate dehydrogenase. (PubMed id 16627483)^{7, 9} Anguera M.C....Stover P.J. (2006)
Ectopic expression of 10-formyltetrahydrofolate dehydrogenase in A549 cells induces G1 cell cycle arrest and apoptosis. (PubMed id 12805405)^{1, 9} Oleinik N.V. and Krupenko S.A. (2003)
On the role of conserved histidine 106 in 10-formyltetrahydrofolate dehydrogenase catalysis: connection between hydrolase and dehydrogenase mechanisms. (PubMed id 11320079)^{7, 9} Krupenko S.A....Wagner C. (2001)
A noncatalytic tetrahydrofolate tight binding site is on the small domain of 10-formyltetrahydrofolate dehydrogenase. (PubMed id 10395731)^{7, 9} Fu T.F....Schirch V. (1999)
FDH: an aldehyde dehydrogenase fusion enzyme in folate metabolism. (PubMed id 18848533)^{1, 9} Krupenko S.A. (2009)
Aspartate 142 is involved in both hydrolase and dehydrogenase catalytic centers of 10-formyltetrahydrofolate dehydrogenase. (PubMed id 10585460)^{7, 9} Krupenko S.A. and Wagner C. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 10840	HGNC: 3978	AceView: FTHFD	Ensembl:ENSG00000144908	euGenes: HUgn10840
ECgene: ALDH1L1	Kegg: 10840	H-InvDB: ALDH1L1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ALDH1L1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ALDH1L1 gene
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Patent Information for ALDH1L1 gene:
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ALDH1L1 Gene

aldehyde dehydrogenase 1 family, member L1

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ALDH1L1 Gene

aldehyde dehydrogenase 1 family, member L1

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