SLC44A1 - solute carrier family 44 member 1 Gene

Also Known as CD92; CTL1; CDW92; CHTL1; CONATOC

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23446

About SLC44A1

Cytogenetic location: 9q31.1-q31.2 Genomic coordinates (GRCh38): 9:105,244,651-105,438,504 (from NCBI)

This gene has 9 transcripts (splice variants), 271 orthologues, 4 paralogues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 21.5), thyroid (RPKM 20.3) and 25 other tissues.

Summary

Enables choline transmembrane transporter activity. Involved in choline transport and transmembrane transport. Located in several cellular components, including cytosol; mitochondrion; and nucleoplasm. Implicated in high grade glioma. [provided by Alliance of Genome Resources, Apr 2022]

SLC44A1 Products (3)

mRNA Protein Name
NM_001286730.2 NP_001273659.1 choline transporter-like protein 1 isoform b
NM_001330731.2 NP_001317660.1 choline transporter-like protein 1 isoform c
NM_080546.5 NP_536856.2 choline transporter-like protein 1 isoform a
Molecular Function GO Annotation Evidence References Source
enables choline transmembrane transporter activity IDA
IDA: Inferred from direct assay
16319125 GOA
enables choline transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
20410607 GOA
enables ethanolamine transmembrane transporter activity IDA
IDA: Inferred from direct assay
33789160 GOA
Biological Process GO Annotation Evidence References Source
involved in choline transport IDA
IDA: Inferred from direct assay
16319125 GOA
involved in choline transport IMP
IMP: Inferred from mutant phenotype
20410607 GOA
involved in ethanolamine transport IDA
IDA: Inferred from direct assay
33789160 GOA
involved in transmembrane transport IDA
IDA: Inferred from direct assay
16319125 GOA
involved in transmembrane transport IMP
IMP: Inferred from mutant phenotype
20410607 GOA
Cellular Component GO Annotation Evidence References Source
located in cytosol IDA
IDA: Inferred from direct assay
21185344 GOA
located in mitochondrial outer membrane IDA
IDA: Inferred from direct assay
19357133 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
26746385 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
16319125 GOA
located in plasma membrane IMP
IMP: Inferred from mutant phenotype
31855247 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

SLC44A1 Protein Structure

Choline_transpo

Choline_transpo: Plasma-membrane choline transporter (292 - 607)

  • 0
  • 200
  • 400
  • 600
  • 657 a.a.
Protein Preferred Names Protein Names

choline transporter-like protein 1

  • CDW92 antigen

SLC44A1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P89834 CD92 Antibody (YA9178) WB, IP, ELISA human

Related Diseases

Diseases Alias
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
  • CONATOC

Postural Orthostatic Tachycardia Syndrome
  • Irritable Heart

  • Mitral Valve Prolapse Syndrome

  • Neurocirculatory Asthenia

  • Orthostatic Intolerance Due To Net Deficiency

  • Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

  • Orhtostatic Intolerance

  • Postural Tachycardia Syndrome Due To Net Deficiency

  • Soldiers Heart

Choline Deficiency Disease
  • Choline Deficiency

Toxocariasis
  • Toxocara Infection

  • Visceral Larva Migrans

  • Larva Migrans, Visceral

  • Infection By Toxascaris

  • Larva Migrans Visceral

  • Larva Migrans Visceralis

  • Toxocaral Visceral Larva Migrans

  • Visceral Larva Migrans Syndrome

  • Toxocara Infestation

Froelich Syndrome
  • Froehlich'S Syndrome

  • Froelich'S Syndrome

  • Adiposogenital Syndrome

  • Babinski-Froelich Syndrome

  • Froehlich Syndrome

High Grade Glioma
  • Malignant Glioma

  • Glial Cell Tumor

  • Glioma, Malignant

  • Malignant Neuroglial Tumor

  • Neuroglial Tumor

  • Glioma

  • Malignant Gliomas

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

Orthologs Information

Species Symbol Source ID
Canis familiaris SLC44A1 VGNC VGNC:46417
Mus musculus SLC44A1 MGD MGI:2140592
Bos taurus SLC44A1 VGNC VGNC:56984
Macaca mulatta SLC44A1 VGNC VGNC:77511
Rattus norvegicus SLC44A1 RGD RGD:621426
Felis catus SLC44A1 VGNC VGNC:65371
Others SLC44A1 NCBI