2. Gene
  3. SLC44A1 - solute carrier family 44 member 1 Gene

SLC44A1 - solute carrier family 44 member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：溶质载体家族 44 成员 1

种属: Homo sapiens

同用名: CD92; CTL1; CDW92; CHTL1; CONATOC

基因 ID: 23446 | 基因类型: protein coding

关于 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.

功能概要

启用胆碱跨膜转运蛋白活性。参与胆碱转运和跨膜转运。位于几种细胞成分中，包括细胞质；线粒体；和核质。涉及高级别神经胶质瘤。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables choline transmembrane transporter activity IDA
IDA: 通过直接分析推断
16319125 GOA
enables choline transmembrane transporter activity IMP
IMP: 通过突变表型推断
20410607 GOA
enables ethanolamine transmembrane transporter activity IDA
IDA: 通过直接分析推断
33789160 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in choline transport IDA
IDA: 通过直接分析推断
16319125 GOA
involved in choline transport IMP
IMP: 通过突变表型推断
20410607 GOA
involved in ethanolamine transport IDA
IDA: 通过直接分析推断
33789160 GOA
involved in transmembrane transport IDA
IDA: 通过直接分析推断
16319125 GOA
involved in transmembrane transport IMP
IMP: 通过突变表型推断
20410607 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
21185344 GOA
located in mitochondrial outer membrane IDA
IDA: 通过直接分析推断
19357133 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
26746385 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
16319125 GOA
located in plasma membrane IMP
IMP: 通过突变表型推断
31855247 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SLC44A1 蛋白结构

Choline_transpo

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

  • 0
  • 200
  • 400
  • 600
  • 657 a.a.
蛋白主名 其他名称

choline transporter-like protein 1

CDW92 antigen

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13251 SLC44A1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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