SLC44A1 - solute carrier family 44 member 1 Gene

Homo sapiens

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

Gene ID: 23446 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

0
200
400
600
657 a.a.

Protein Preferred Names

Protein Names

choline transporter-like protein 1

CDW92 antigen

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13251	SLC44A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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