solute carrier family 33 member 1

Summary
Gene Symbol
  • SLC33A1
Aliases
  • AT-1
  • AT1
  • Acetyl-CoA transporter 1
Organism
Homo sapiens (human)
External Links
NCBI Gene
9197
HGNC
95
KEGG Gene ID
hsa:9197
PubChem
9197
Alliance of Genome Resources
Annotation
Keyword
  • Cataract
  • Deafness
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Hereditary spastic paraplegia
  • Phosphoprotein
  • Reference proteome
  • Transmembrane helix
  • Transport
Proteins
Displaying 1 entry
UniProt Protein Name
O00400
  • Solute carrier family 33 member 1
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
transmembrane transport
acetyl-CoA transmembrane transport
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000169359

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
K03372
Name
MFS transporter, PAT family, solute carrier family 33 (acetyl-CoA transportor), member 1 [EC:2.3.1.-]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 263 in total
DO ID Disease Name Source
DOID:0050662 bestrophinopathy
DOID:0050700 cardiomyopathy
DOID:0050757 deafness-dystonia-optic neuronopathy syndrome
DOID:0050848 obstructive sleep apnea
DOID:0050886 Troyer syndrome
DOID:0060041 autism spectrum disorder
DOID:0060180 colitis
DOID:0060189 ileitis
DOID:0060190 ileocolitis
DOID:0060193 amyotrophic lateral sclerosis type 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 39 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000365 Hearing impairment
HP:0000519 Developmental cataract
HP:0000639 Nystagmus
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001258 Spastic paraplegia
HP:0001272 Cerebellar atrophy
HP:0001324 Muscle weakness
Displaying all 3 entries
Disease ID Disease Name
OMIM:614482
  • Huppke-Brendel syndrome
OMIM:612539
  • hereditary spastic paraplegia 42
ORPHA:171863
  • hereditary spastic paraplegia 42
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP004676
Gene Name
solute carrier family 33 (acetyl-CoA transporter), member 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024