2. Gene
  3. CHPT1 - choline phosphotransferase 1 Gene

CHPT1 - choline phosphotransferase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CPT; CPT1

Gene ID: 56994 | Gene type: protein coding

About CHPT1

Cytogenetic location: 12q23.2 Genomic coordinates (GRCh38): 12:101,697,640-101,729,074 (from NCBI)

This gene has 10 transcripts (splice variants), 213 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 11.8), duodenum (RPKM 11.3) and 25 other tissues.

Summary

Enables diacylglycerol cholinephosphotransferase activity. Involved in phosphatidylcholine biosynthetic process and platelet activating factor biosynthetic process. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

CHPT1 Products(1)

mRNA Protein Name
NM_020244.3 NP_064629.2 cholinephosphotransferase 1

CHPT1 Protein Structure

CDP-OH_P_transf

CDP-OH_P_transf: CDP-alcohol phosphatidyltransferase (60 - 165)

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

cholinephosphotransferase 1

AAPT1-like protein

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02655 CHPT1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris CHPT1 VGNC VGNC:54196
Bos taurus CHPT1 VGNC VGNC:27314
Macaca mulatta CHPT1 VGNC VGNC:70989
Felis catus CHPT1 VGNC VGNC:60869
Mus musculus CHPT1 MGD MGI:2384841
Rattus norvegicus CHPT1 RGD RGD:1359283