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ALDH1L2 aldehyde dehydrogenase 1 family member L2 [ Homo sapiens (human) ]

Gene ID: 160428, updated on 2-Oct-2018

Summary

Official Symbol
ALDH1L2provided by HGNC
Official Full Name
aldehyde dehydrogenase 1 family member L2provided by HGNC
Primary source
HGNC:HGNC:26777
See related
Ensembl:ENSG00000136010 MIM:613584; Vega:OTTHUMG00000169823
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
mtFDH
Summary
This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]
Expression
Ubiquitous expression in pancreas (RPKM 5.6), salivary gland (RPKM 2.9) and 22 other tissues See more
Orthologs

Genomic context

See ALDH1L2 in Genome Data Viewer
Location:
12q23.3
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (105019784..105084609, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (105413562..105478341, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369952 Neighboring gene keratin 18 pseudogene 20 Neighboring gene chromosome 12 open reading frame 45 Neighboring gene uncharacterized LOC414300 Neighboring gene WASH complex subunit 4

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of aldehyde dehydrogenase 1 family, member L2 (ALDH1L2) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36769, FLJ38508, MGC119536, MGC119537, DKFZp686M064, DKFZp686A16126, DKFZp686P14145

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 
formyltetrahydrofolate dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
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
extracellular exosome HDA PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
mitochondrial 10-formyltetrahydrofolate dehydrogenase
Names
10-formyltetrahydrofolate dehydrogenase ALDH1L2
aldehyde dehydrogenase family 1 member L2, mitochondrial
mitochondrial 10-FTHFDH
probable 10-formyltetrahydrofolate dehydrogenase ALDH1L2
NP_001029345.2
XP_011536288.1
XP_011536290.1
XP_011536291.1
XP_016874378.1
XP_016874379.1

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_012748.1 RefSeqGene

    Range
    5001..69780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001034173.3NP_001029345.2  mitochondrial 10-formyltetrahydrofolate dehydrogenase precursor

    See identical proteins and their annotated locations for NP_001029345.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes a functional protein.
    Source sequence(s)
    AC016257, AC090051, AK300373, BC103935, CA418450
    Consensus CDS
    CCDS31891.1
    UniProtKB/Swiss-Prot
    Q3SY69
    UniProtKB/TrEMBL
    B4DTU7
    Related
    ENSP00000258494.9, OTTHUMP00000242225, ENST00000258494.13, OTTHUMT00000406098
    Conserved Domains (5) summary
    cd07140
    Location:439923
    ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
    cd08647
    Location:23225
    FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
    cd08703
    Location:228327
    FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
    COG0223
    Location:22326
    Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
    pfam00550
    Location:346390
    PP-binding; Phosphopantetheine attachment site

RNA

  1. NR_027752.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has alternate splice sites, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay (NMD) candidate, and is unlikely to make a functional protein.
    Source sequence(s)
    AC016257, AC090051, BC103935, CA418450
    Related
    ENST00000549335.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    105019784..105084609 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018889.1XP_016874378.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X1

    Conserved Domains (4) summary
    cd07140
    Location:293777
    ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
    cd08703
    Location:82181
    FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
    pfam00550
    Location:200244
    PP-binding; Phosphopantetheine attachment site
    cl00395
    Location:279
    FMT_core; Formyltransferase, catalytic core domain
  2. XM_011537986.2XP_011536288.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X1

    See identical proteins and their annotated locations for XP_011536288.1

    Conserved Domains (4) summary
    cd07140
    Location:293777
    ALDH_F1L_FTFDH; 10-formyltetrahydrofolate dehydrogenase, ALDH family 1L
    cd08703
    Location:82181
    FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
    pfam00550
    Location:200244
    PP-binding; Phosphopantetheine attachment site
    cl00395
    Location:279
    FMT_core; Formyltransferase, catalytic core domain
  3. XM_011537988.3XP_011536290.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X2

    Conserved Domains (5) summary
    cd08647
    Location:23225
    FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
    cd08703
    Location:228327
    FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
    COG0223
    Location:22326
    Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
    pfam00550
    Location:346390
    PP-binding; Phosphopantetheine attachment site
    cl11961
    Location:439621
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
  4. XM_017018890.2XP_016874379.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X3

  5. XM_011537989.3XP_011536291.1  mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform X4

    UniProtKB/Swiss-Prot
    Q3SY69
    Conserved Domains (5) summary
    cd08647
    Location:23225
    FMT_core_FDH_N; 10-formyltetrahydrofolate dehydrogenase (FDH), N-terminal hydrolase domain
    cd08703
    Location:228327
    FDH_Hydrolase_C; The C-terminal subdomain of the hydrolase domain on the bi-functional protein 10-formyltetrahydrofolate dehydrogenase
    COG0223
    Location:22326
    Fmt; Methionyl-tRNA formyltransferase [Translation, ribosomal structure and biogenesis]
    pfam00550
    Location:346390
    PP-binding; Phosphopantetheine attachment site
    cl11961
    Location:439513
    ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily
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