selenoprotein I

Summary
Gene Symbol
  • SELENOI
Aliases
  • KIAA1724
  • SELI
  • SEPI
Organism
Homo sapiens (human)
External Links
NCBI Gene
85465
HGNC
29361
KEGG Gene ID
hsa:85465
PubChem
85465
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Disease variant
  • Endoplasmic reticulum
  • Hereditary spastic paraplegia
  • Magnesium
  • Manganese
  • Metal-binding
  • Phospholipid biosynthesis
  • Reference proteome
  • Selenocysteine
  • Transferase
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9C0D9
  • Selenoprotein I
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
phosphatidylethanolamine biosynthetic process
GO Hierarchy
Human Protein Atlas
ENSG00000138018

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
K00993
Name
ethanolaminephosphotransferase [EC:2.7.8.1]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 71 in total
DO ID Disease Name Source
DOID:0050886 Troyer syndrome
DOID:0060245 Mast syndrome
DOID:0060246 MASA syndrome
DOID:0060491 SPOAN syndrome
DOID:0080067 Charcot-Marie-Tooth disease type 5
DOID:0110213 isolated cleft palate
DOID:0110763 hereditary spastic paraplegia 10
DOID:0110764 hereditary spastic paraplegia 11
DOID:0110765 hereditary spastic paraplegia 12
DOID:0110766 hereditary spastic paraplegia 13
The Human Phenotype Ontology
Displaying entries 1 - 10 of 33 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000175 Cleft palate
HP:0000193 Bifid uvula
HP:0000252 Microcephaly
HP:0000407 Sensorineural hearing impairment
HP:0000648 Optic atrophy
HP:0000750 Delayed speech and language development
HP:0001250 Seizure
HP:0001256 Intellectual disability, mild
HP:0001260 Dysarthria
Displaying all 2 entries
Disease ID Disease Name
ORPHA:506353
  • autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
OMIM:618768
  • spastic paraplegia 81, autosomal recessive
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP012361
Gene Name
ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024