Details for: ALDH6A1

Gene ID: 4329

Symbol: ALDH6A1

Ensembl ID: ENSG00000119711

Description: aldehyde dehydrogenase 6 family member A1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 165.9967
    Cell Significance Index: -25.8200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 96.2769
    Cell Significance Index: -24.4200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 58.1840
    Cell Significance Index: -27.4700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 55.6052
    Cell Significance Index: -22.5900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 23.7446
    Cell Significance Index: -22.6700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 22.0851
    Cell Significance Index: -27.2300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.0603
    Cell Significance Index: -26.9500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.9589
    Cell Significance Index: -27.4600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.2381
    Cell Significance Index: -19.1600
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 2.8231
    Cell Significance Index: 22.5400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.4833
    Cell Significance Index: 161.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.3174
    Cell Significance Index: 153.5300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1997
    Cell Significance Index: 1083.2500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.1418
    Cell Significance Index: 26.3800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.0135
    Cell Significance Index: 201.1300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0042
    Cell Significance Index: 163.3300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.8093
    Cell Significance Index: 55.9700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.6095
    Cell Significance Index: 28.4200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5570
    Cell Significance Index: 15.1600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5008
    Cell Significance Index: 95.3100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4550
    Cell Significance Index: 13.1100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4508
    Cell Significance Index: 57.7900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4495
    Cell Significance Index: 61.7300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4376
    Cell Significance Index: 5.9700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.3694
    Cell Significance Index: 29.2600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3353
    Cell Significance Index: 231.9400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.3245
    Cell Significance Index: 4.7900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3103
    Cell Significance Index: 55.9400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.2944
    Cell Significance Index: 4.9600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2783
    Cell Significance Index: 20.7400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2719
    Cell Significance Index: 5.8900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.2668
    Cell Significance Index: 9.2700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2535
    Cell Significance Index: 31.1700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2489
    Cell Significance Index: 49.9200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2454
    Cell Significance Index: 134.0100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2185
    Cell Significance Index: 78.3600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1621
    Cell Significance Index: 71.6500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1587
    Cell Significance Index: 8.3300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1557
    Cell Significance Index: 4.1000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.1286
    Cell Significance Index: 1.0800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.1190
    Cell Significance Index: 87.2300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1145
    Cell Significance Index: 14.7900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1100
    Cell Significance Index: 4.9900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1099
    Cell Significance Index: 5.7100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0333
    Cell Significance Index: 62.6400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0299
    Cell Significance Index: 1.0500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0187
    Cell Significance Index: 0.6000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0186
    Cell Significance Index: 11.8000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0115
    Cell Significance Index: 1.9600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0051
    Cell Significance Index: 7.9000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0025
    Cell Significance Index: 3.4500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0014
    Cell Significance Index: -2.5300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0021
    Cell Significance Index: -1.5700
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0044
    Cell Significance Index: -0.0700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0046
    Cell Significance Index: -0.3500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0079
    Cell Significance Index: -0.4900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0108
    Cell Significance Index: -0.2300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0131
    Cell Significance Index: -0.8400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0288
    Cell Significance Index: -4.1800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0322
    Cell Significance Index: -3.2900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0335
    Cell Significance Index: -15.2100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.0378
    Cell Significance Index: -3.7400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0389
    Cell Significance Index: -28.8400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0486
    Cell Significance Index: -3.4400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0500
    Cell Significance Index: -28.1900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0502
    Cell Significance Index: -31.3300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0674
    Cell Significance Index: -1.4100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0764
    Cell Significance Index: -21.9700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0814
    Cell Significance Index: -4.5700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0991
    Cell Significance Index: -2.6500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1040
    Cell Significance Index: -1.7400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1076
    Cell Significance Index: -12.6900
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.1150
    Cell Significance Index: -1.1900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1167
    Cell Significance Index: -2.5000
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.1295
    Cell Significance Index: -0.9900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1327
    Cell Significance Index: -6.9100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1348
    Cell Significance Index: -3.3700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1419
    Cell Significance Index: -3.9700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1441
    Cell Significance Index: -2.9900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1502
    Cell Significance Index: -31.6400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1560
    Cell Significance Index: -17.8700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1715
    Cell Significance Index: -8.0600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1825
    Cell Significance Index: -3.0700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2307
    Cell Significance Index: -24.0200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2566
    Cell Significance Index: -6.8800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2948
    Cell Significance Index: -7.5300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3172
    Cell Significance Index: -21.3300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3275
    Cell Significance Index: -20.0800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3303
    Cell Significance Index: -9.7300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3373
    Cell Significance Index: -14.9200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3507
    Cell Significance Index: -6.0100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3719
    Cell Significance Index: -2.5200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.3968
    Cell Significance Index: -23.8200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4032
    Cell Significance Index: -24.7800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.4117
    Cell Significance Index: -20.8100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4201
    Cell Significance Index: -15.9100
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4559
    Cell Significance Index: -6.7300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.5216
    Cell Significance Index: -10.1800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.5270
    Cell Significance Index: -5.4600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5812
    Cell Significance Index: -20.3600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** ALDH6A1 is a gene that encodes for an enzyme, which is involved in the oxidation of aldehydes to carboxylic acids. This enzyme is a member of the aldehyde dehydrogenase family and is characterized by its ability to catalyze the conversion of aldehydes to their corresponding carboxylic acids. The gene is significantly expressed in various cell types, including those involved in the metabolism of branched-chain amino acids (BCAAs), which are essential for protein synthesis and energy production. **Pathways and Functions:** ALDH6A1 is involved in several metabolic pathways, including: 1. **Branched-chain amino acid catabolic process**: ALDH6A1 plays a crucial role in the metabolism of BCAAs, which are essential for protein synthesis and energy production. The gene's product is involved in the oxidation of leucine, isoleucine, and valine, leading to the production of acetyl-CoA, which is used for energy production. 2. **Brown fat cell differentiation**: ALDH6A1 is involved in the differentiation of brown adipose tissue (BAT) cells, which are responsible for thermogenesis and energy expenditure. The gene's product is required for the expression of genes involved in BAT cell differentiation and function. 3. **Metabolism of amino acids and derivatives**: ALDH6A1 is involved in the metabolism of various amino acids and derivatives, including valine, leucine, and isoleucine. The gene's product is required for the oxidation of these amino acids, leading to the production of energy and other metabolites. 4. **Methylmalonate-semialdehyde dehydrogenase (acylating, nad) activity**: ALDH6A1 is involved in the oxidation of methylmalonate-semialdehyde, leading to the production of succinyl-CoA, which is used for energy production. **Clinical Significance:** ALDH6A1 has significant implications in various clinical settings, including: 1. **Metabolic disorders**: Mutations in the ALDH6A1 gene have been associated with metabolic disorders, including BCAA-related disorders and brown fat cell dysfunction. 2. **Cancer**: ALDH6A1 is overexpressed in various types of cancer, including breast, lung, and colon cancer. The gene's product is involved in the metabolism of amino acids and derivatives, leading to the promotion of tumorigenesis. 3. **Neurological disorders**: ALDH6A1 is involved in the metabolism of amino acids and derivatives, which are essential for neuronal function and survival. Mutations in the ALDH6A1 gene have been associated with neurological disorders, including Parkinson's disease and Alzheimer's disease. In conclusion, ALDH6A1 is a gene with multiple functions in cellular metabolism and development. Its involvement in various pathways, including amino acid catabolism, brown fat cell differentiation, and metabolism, makes it a critical regulator of cellular function. The gene's significance in clinical settings, including metabolic disorders, cancer, and neurological disorders, highlights the importance of further research into the role of ALDH6A1 in human health and disease.

Genular Protein ID: 3729939876

Symbol: MMSA_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q02252 B2R609 B4DFS8 J3KNU8 Q9UKM8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 39 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 2 EMBL 11 Ensembl 2 ExpressionAtlas 1 GO 12 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 8 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10947204

Title: Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.

PubMed ID: 10947204

DOI: 10.1023/a:1005616315087

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1527093

Title: CoA-dependent methylmalonate-semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution.

PubMed ID: 1527093

DOI: 10.1016/s0021-9258(18)41835-2

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 23835272

Title: Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.

PubMed ID: 23835272

DOI: 10.1186/1750-1172-8-98

Sequence Information:

  • Length: 535
  • Mass: 57840
  • Checksum: 0786AF63897E7962
  • Sequence:
    • MAALLAAAAV RARILQVSSK VKSSPTWYSA SSFSSSVPTV KLFIGGKFVE SKSDKWIDIH 
NPATNEVIGR VPQATKAEMD AAIASCKRAF PAWADTSVLS RQQVLLRYQQ LIKENLKEIA 
KLITLEQGKT LADAEGDVFR GLQVVEHACS VTSLMMGETM PSITKDMDLY SYRLPLGVCA 
GIAPFNFPAM IPLWMFPMAM VCGNTFLMKP SERVPGATML LAKLLQDSGA PDGTLNIIHG 
QHEAVNFICD HPDIKAISFV GSNKAGEYIF ERGSRHGKRV QANMGAKNHG VVMPDANKEN 
TLNQLVGAAF GAAGQRCMAL STAVLVGEAK KWLPELVEHA KNLRVNAGDQ PGADLGPLIT 
PQAKERVCNL IDSGTKEGAS ILLDGRKIKV KGYENGNFVG PTIISNVKPN MTCYKEEIFG 
PVLVVLETET LDEAIQIVNN NPYGNGTAIF TTNGATARKY AHLVDVGQVG VNVPIPVPLP 
MFSFTGSRSS FRGDTNFYGK QGIQFYTQLK TITSQWKEED ATLSSPAVVM PTMGR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.