CEPT1 - choline/ethanolamine phosphotransferase 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10390

About CEPT1

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:111,139,499-111,185,104 (from NCBI)

This gene has 13 transcripts (splice variants), 240 orthologues and 2 paralogues. Ubiquitous expression in spleen (RPKM 19.9), lymph node (RPKM 17.1) and 25 other tissues.

Summary

This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing Phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

CEPT1 Products (4)

mRNA Protein Name
NM_001007794.3 NP_001007795.1 choline/ethanolaminephosphotransferase 1 isoform 1
NM_001330743.2 NP_001317672.1 choline/ethanolaminephosphotransferase 1 isoform 1
NM_001410844.1 NP_001397773.1 choline/ethanolaminephosphotransferase 1 isoform 2
NM_006090.5 NP_006081.1 choline/ethanolaminephosphotransferase 1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables diacylglycerol cholinephosphotransferase activity IDA
IDA: Inferred from direct assay
10191259 GOA
enables ethanolaminephosphotransferase activity IDA
IDA: Inferred from direct assay
10191259 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in phosphatidylcholine biosynthetic process IDA
IDA: Inferred from direct assay
10191259 GOA
involved in phosphatidylethanolamine biosynthetic process IDA
IDA: Inferred from direct assay
10191259 GOA
Cellular Component GO Annotation Evidence References Source
is active in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
12221122 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CEPT1 Protein Structure

CDP-OH_P_transf

CDP-OH_P_transf: CDP-alcohol phosphatidyltransferase (82 - 184)

  • 0
  • 100
  • 200
  • 300
  • 416 a.a.
Protein Preferred Names Protein Names

choline/ethanolaminephosphotransferase 1

  • 1-alkenyl-2-acylglycerol choline phosphotransferase

CEPT1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CEPT1 Q9Y6K0 TMEM14B Homo sapiens Q9NUH8
Y2H Array
32296183
Intra
CEPT1 Q9Y6K0 TMEM14B Homo sapiens Q9NUH8
Y2H Prey Pooling
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Neuronopathy, Distal Hereditary Motor, Type Viia

  • HMN7A

  • Hmn Viia

  • Dhmn7a

  • Neuropathy, Distal Hereditary Motor, Type Viia

  • Dhmnvp

  • Harper-Young Myopathy

  • Distal Hereditary Motor Neuronopathy Type 7a

  • Distal Hereditary Motor Neuropathy Type Viia

  • Neuronopathy, Distal Hereditary Motor, Type 7a

  • Spinal Muscular Atrophy, Distal, With Vocal Cord Paralysis

  • Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7a

  • Harper-Young Myopath

  • Neuronopathy, Distal Hereditary Motor, 7a

  • Distal Hereditary Motor Neuronopathy Type Viia

  • Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis

  • Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

  • Neuropathy, Motor, Distal, Hereditary, Type Viia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02531 CEPT1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS29475 CEPT1 Human/Cat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-183589 Ferroptosis-IN-26 Inhibitor / Unkown
HY-RS20881 Cept1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27398 Cept1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CEPT1 RGD RGD:1359727
Macaca mulatta CEPT1 VGNC VGNC:71087
Mus musculus CEPT1 MGD MGI:2139793
Felis catus CEPT1 VGNC VGNC:80165
Bos taurus CEPT1 VGNC VGNC:27220
Canis familiaris CEPT1 VGNC VGNC:39144