Details for: ALDH5A1

Gene ID: 7915

Symbol: ALDH5A1

Ensembl ID: ENSG00000112294

Description: aldehyde dehydrogenase 5 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: 84.0913
    Cell Significance Index: -13.0800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 50.0309
    Cell Significance Index: -12.6900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 31.2364
    Cell Significance Index: -12.6900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.1440
    Cell Significance Index: -13.7400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.6181
    Cell Significance Index: -15.0500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.6543
    Cell Significance Index: -14.4200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.7502
    Cell Significance Index: 90.9200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.3287
    Cell Significance Index: 79.7700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.0796
    Cell Significance Index: 14.7300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.0242
    Cell Significance Index: 111.4100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.7580
    Cell Significance Index: 152.0600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7401
    Cell Significance Index: 146.8800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7308
    Cell Significance Index: 118.8700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.7017
    Cell Significance Index: 31.0400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.6885
    Cell Significance Index: 6.3400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.6805
    Cell Significance Index: 25.7700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.6491
    Cell Significance Index: 9.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6305
    Cell Significance Index: 226.1400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.5315
    Cell Significance Index: 8.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5205
    Cell Significance Index: 93.8400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4950
    Cell Significance Index: 34.2400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4759
    Cell Significance Index: 329.1500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.4744
    Cell Significance Index: 10.9600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4686
    Cell Significance Index: 10.2600
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.4401
    Cell Significance Index: 3.6400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.4277
    Cell Significance Index: 52.5900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3916
    Cell Significance Index: 353.6200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3821
    Cell Significance Index: 17.3200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3304
    Cell Significance Index: 9.5200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2903
    Cell Significance Index: 34.2400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2714
    Cell Significance Index: 5.8800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.2489
    Cell Significance Index: 5.3200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.2438
    Cell Significance Index: 16.3900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.2338
    Cell Significance Index: 2.9000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2267
    Cell Significance Index: 6.4700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2183
    Cell Significance Index: 13.4200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2131
    Cell Significance Index: 13.7500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2005
    Cell Significance Index: 4.2700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.1950
    Cell Significance Index: 3.2900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1622
    Cell Significance Index: 30.8600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1393
    Cell Significance Index: 76.1000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1312
    Cell Significance Index: 8.2700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1148
    Cell Significance Index: 2.8700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1065
    Cell Significance Index: 8.1800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0889
    Cell Significance Index: 10.3600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0876
    Cell Significance Index: 4.6000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0777
    Cell Significance Index: 7.6900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0738
    Cell Significance Index: 4.1400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0692
    Cell Significance Index: 1.8200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0620
    Cell Significance Index: 8.5100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0613
    Cell Significance Index: 1.0500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0530
    Cell Significance Index: 1.2700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0394
    Cell Significance Index: 17.4000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0243
    Cell Significance Index: 1.7200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0146
    Cell Significance Index: 27.5800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0088
    Cell Significance Index: 0.3100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0067
    Cell Significance Index: 10.3800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0049
    Cell Significance Index: 9.0000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0044
    Cell Significance Index: 2.8000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0035
    Cell Significance Index: 2.5500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0029
    Cell Significance Index: 0.5000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0012
    Cell Significance Index: -0.5600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0028
    Cell Significance Index: -2.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0036
    Cell Significance Index: -4.8800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0044
    Cell Significance Index: -2.7200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0065
    Cell Significance Index: -4.9500
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0104
    Cell Significance Index: -0.0800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0150
    Cell Significance Index: -0.4800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0162
    Cell Significance Index: -9.1300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0165
    Cell Significance Index: -2.1100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0177
    Cell Significance Index: -2.5700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0184
    Cell Significance Index: -0.3900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0190
    Cell Significance Index: -0.9900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0202
    Cell Significance Index: -0.5400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0259
    Cell Significance Index: -2.9700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0349
    Cell Significance Index: -7.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0399
    Cell Significance Index: -11.4700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0596
    Cell Significance Index: -0.8800
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.0659
    Cell Significance Index: -0.8600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0712
    Cell Significance Index: -1.9900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0726
    Cell Significance Index: -7.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0764
    Cell Significance Index: -9.8700
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0791
    Cell Significance Index: -1.1100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0794
    Cell Significance Index: -1.5700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0825
    Cell Significance Index: -2.2100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0909
    Cell Significance Index: -2.4800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0916
    Cell Significance Index: -2.4500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1058
    Cell Significance Index: -3.6800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1081
    Cell Significance Index: -6.6300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1113
    Cell Significance Index: -12.7000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1194
    Cell Significance Index: -3.0700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1235
    Cell Significance Index: -12.8600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1270
    Cell Significance Index: -2.5500
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1333
    Cell Significance Index: -2.8800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1429
    Cell Significance Index: -11.3200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1430
    Cell Significance Index: -1.4800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1484
    Cell Significance Index: -3.7900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1501
    Cell Significance Index: -11.1900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1934
    Cell Significance Index: -9.0900

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:** 1. **Expression Pattern:** ALDH5A1 is specifically expressed in late pro-B cells, GABAergic cortical interneurons, and other neuronal populations involved in synaptic transmission and neurotransmitter release. 2. **Enzymatic Activity:** ALDH5A1 is an aldehyde dehydrogenase enzyme that catalyzes the degradation of aldehydes, including those derived from GABA. 3. **Pathway Involvement:** ALDH5A1 is implicated in various cellular pathways, including central nervous system development, GABA synthesis and degradation, and synaptic transmission. 4. **Protein Structure:** The ALDH5A1 protein consists of two domains, a N-terminal domain and a C-terminal domain, which are involved in substrate recognition and catalysis. **Pathways and Functions:** 1. **GABAergic Signaling:** ALDH5A1 is involved in the degradation of GABA-derived aldehydes, regulating synaptic transmission and neurotransmitter release. 2. **Central Nervous System Development:** ALDH5A1 is expressed during embryonic development and is involved in the regulation of neural cell fate and differentiation. 3. **Synaptic Transmission:** ALDH5A1 is implicated in the regulation of synaptic transmission, including the release and reuptake of neurotransmitters. 4. **Mitochondrial Function:** ALDH5A1 is also involved in the regulation of mitochondrial function, including the degradation of succinate-derived aldehydes. **Clinical Significance:** Dysregulation of ALDH5A1 expression has been linked to various neurodevelopmental disorders, including: 1. **Autism Spectrum Disorder (ASD):** Abnormalities in ALDH5A1 expression have been observed in individuals with ASD, highlighting the importance of this gene in maintaining proper neuronal function. 2. **Neurodevelopmental Disorders:** ALDH5A1 dysregulation has also been implicated in other neurodevelopmental disorders, including schizophrenia and intellectual disability. 3. **Neurodegenerative Diseases:** ALDH5A1 may also play a role in the regulation of neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. In conclusion, ALDH5A1 is a critical gene involved in GABAergic signaling and neurodevelopment. Its dysregulation has been linked to various neurodevelopmental disorders, highlighting the importance of this gene in maintaining proper neuronal function. Further research is needed to fully elucidate the role of ALDH5A1 in human health and disease.

Genular Protein ID: 1753834516

Symbol: SSDH_HUMAN

Name: Aldehyde dehydrogenase family 5 member A1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9683595

Title: Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

PubMed ID: 9683595

DOI: 10.1086/301964

PubMed ID: 12208142

Title: Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms.

PubMed ID: 12208142

DOI: 10.1016/s1096-7192(02)00105-1

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 7814412

Title: Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression.

PubMed ID: 7814412

DOI: 10.1074/jbc.270.1.461

PubMed ID: 9059628

Title: Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization.

PubMed ID: 9059628

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

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: 19300440

Title: Redox-switch modulation of human SSADH by dynamic catalytic loop.

PubMed ID: 19300440

DOI: 10.1038/emboj.2009.40

PubMed ID: 11243727

Title: Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.

PubMed ID: 11243727

DOI: 10.1006/mgme.2000.3145

PubMed ID: 11901270

Title: Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T>A of the ALDH5A1 gene.

PubMed ID: 11901270

DOI: 10.1159/000048603

PubMed ID: 14635103

Title: Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.

PubMed ID: 14635103

DOI: 10.1002/humu.10288

Sequence Information:

  • Length: 535
  • Mass: 57215
  • Checksum: C63A9431D3FA16C7
  • Sequence:
  • MATCIWLRSC GARRLGSTFP GCRLRPRAGG LVPASGPAPG PAQLRCYAGR LAGLSAALLR 
    TDSFVGGRWL PAAATFPVQD PASGAALGMV ADCGVREARA AVRAAYEAFC RWREVSAKER 
    SSLLRKWYNL MIQNKDDLAR IITAESGKPL KEAHGEILYS AFFLEWFSEE ARRVYGDIIH 
    TPAKDRRALV LKQPIGVAAV ITPWNFPSAM ITRKVGAALA AGCTVVVKPA EDTPFSALAL 
    AELASQAGIP SGVYNVIPCS RKNAKEVGEA ICTDPLVSKI SFTGSTTTGK ILLHHAANSV 
    KRVSMELGGL APFIVFDSAN VDQAVAGAMA SKFRNTGQTC VCSNQFLVQR GIHDAFVKAF 
    AEAMKKNLRV GNGFEEGTTQ GPLINEKAVE KVEKQVNDAV SKGATVVTGG KRHQLGKNFF 
    EPTLLCNVTQ DMLCTHEETF GPLAPVIKFD TEEEAIAIAN AADVGLAGYF YSQDPAQIWR 
    VAEQLEVGMV GVNEGLISSV ECPFGGVKQS GLGREGSKYG IDEYLELKYV CYGGL

Genular Protein ID: 2917156083

Symbol: X5D299_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 24722188

Title: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

PubMed ID: 24722188

Sequence Information:

  • Length: 548
  • Mass: 58653
  • Checksum: 98C7673CBBF74FC8
  • Sequence:
  • MATCIWLRSC GARRLGSTFP GCRLRPRAGG LVPASGPAPG PAQLRCYAGR LAGLSAALLR 
    TDSFVGGRWL PAAATFPVQD PASGAALGMV ADCGVREARA AVRAAYEAFC RWREVSAKER 
    SSLLRKWYNL MIQNKDDLAR IITAESGKPL KEAHGEILYS AFFLEWFSEE ARRVYGDIIH 
    TPAKDRRALV LKQPIGVAAV ITPWNFPSAM ITRKVGAALA AGCTVVVKPA EDTPFSALAL 
    AEVNQGFLLD LDPLLLASQA GIPSGVYNVI PCSRKNAKEV GEAICTDPLV SKISFTGSTT 
    TGKILLHHAA NSVKRVSMEL GGLAPFIVFD SANVDQAVAG AMASKFRNTG QTCVCSNQFL 
    VQRGIHDAFV KAFAEAMKKN LRVGNGFEEG TTQGPLINEK AVEKVEKQVN DAVSKGATVV 
    TGGKRHQLGK NFFEPTLLCN VTQDMLCTHE ETFGPLAPVI KFDTEEEAIA IANAADVGLA 
    GYFYSQDPAQ IWRVAEQLEV GMVGVNEGLI SSVECPFGGV KQSGLGREGS KYGIDEYLEL 
    KYVCYGGL

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.