aldehyde dehydrogenase 5 family member A1

Summary
Gene Symbol
  • ALDH5A1
Aliases
  • SSADH
  • SSDH
  • succinate-semialdehyde dehydrogenase
Organism
Homo sapiens (human)
External Links
NCBI Gene
7915
HGNC
408
KEGG Gene ID
hsa:7915
PubChem
7915
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Disease variant
  • Disulfide bond
  • Mitochondrion
  • NAD
  • Oxidoreductase
  • Phosphoprotein
  • Reference proteome
  • Transit peptide
Proteins
Displaying all 3 entries
UniProt Protein Name
P51649
  • Aldehyde dehydrogenase family 5 member A1
  • NAD(+)-dependent succinic semialdehyde dehydrogenase
X5DQN2
X5D299
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000112294

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00139
Name
succinate-semialdehyde dehydrogenase [EC:1.2.1.24]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 57 in total
DO ID Disease Name Source
DOID:0050589 inflammatory bowel disease
DOID:0050835 generalized dystonia
DOID:0050836 focal dystonia
DOID:0050841 focal hand dystonia
DOID:0060170 generalized epilepsy with febrile seizures plus
DOID:0060175 succinic semialdehyde dehydrogenase deficiency
DOID:0060192 Crohn's colitis
DOID:0060478 Zika fever
DOID:0060730 torsion dystonia 1
DOID:0060823 syndromic X-linked intellectual disability 94
The Human Phenotype Ontology
Displaying entries 1 - 10 of 32 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000496 Abnormality of eye movement
HP:0000708 Atypical behavior
HP:0000709 Psychosis
HP:0000717 Autism
HP:0000718 Aggressive behavior
HP:0000738 Hallucinations
HP:0000739 Anxiety
HP:0000750 Delayed speech and language development
HP:0000752 Hyperactivity
Displaying all 2 entries
Disease ID Disease Name
OMIM:271980
  • succinic semialdehyde dehydrogenase deficiency
ORPHA:22
  • succinic semialdehyde dehydrogenase deficiency

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024