CTNS - cystinosin, lysosomal cystine transporter Gene

中文名称：胱氨酸，溶酶体胱氨酸转运体

种属: Homo sapiens

同用名: PQLC4; SLC66A4; CTNS-LSB

基因 ID: 1497 | 基因类型: protein coding

关于 CTNS

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:3,636,459-3,663,103 (from NCBI)

This gene has 12 transcripts (splice variants), 202 orthologues and is associated with 8 phenotypes. Ubiquitous expression in testis (RPKM 9.6), adrenal (RPKM 5.7) and 25 other tissues.

功能概要

该基因编码一个七跨膜结构域蛋白，其功能是将胱氨酸转运出溶酶体。其活性由溶酶体膜的 H+ 电化学梯度驱动。该基因的突变会导致胱氨酸增多症，这是一种溶酶体贮积症。可变剪接导致多个转录本变体。[RefSeq 提供，2009 年 7 月]

This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

CTNS 基因产物(7)

mRNA	Protein	Name
NM_001031681.3	NP_001026851.2	cystinosin isoform 1 precursor
NM_001374492.1	NP_001361421.1	cystinosin isoform 1 precursor
NM_001374493.1	NP_001361422.1	cystinosin isoform 3
NM_001374494.1	NP_001361423.1	cystinosin isoform 3
NM_001374495.1	NP_001361424.1	cystinosin isoform 3
NM_001374496.1	NP_001361425.1	cystinosin isoform 3
NM_004937.3	NP_004928.2	cystinosin isoform 2 precursor

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 L-cystine transmembrane transporter activity	IDA IDA: 通过直接分析推断	11689434	GOA
enables L-cystine transmembrane transporter activity	IMP IMP: 通过突变表型推断	15128704	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables solute:proton symporter activity	IDA IDA: 通过直接分析推断	11689434	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in ATP metabolic process	IMP IMP: 通过突变表型推断	16439594	GOA
acts upstream of or within L-cystine transport	IDA IDA: 通过直接分析推断	18337546	GOA
involved in L-cystine transport	IDA IDA: 通过直接分析推断	11689434	GOA
involved in L-cystine transport	IMP IMP: 通过突变表型推断	7112129	GOA
involved in brain development	IMP IMP: 通过突变表型推断	17471495	GOA
involved in cognition	IMP IMP: 通过突变表型推断	17471495	GOA
involved in glutathione metabolic process	IMP IMP: 通过突变表型推断	15956064	GOA
involved in regulation of TORC1 signaling	IDA IDA: 通过直接分析推断	36113465	GOA
involved in regulation of melanin biosynthetic process	IMP IMP: 通过突变表型推断	22649030	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
NOT located in early endosome	IDA IDA: 通过直接分析推断	11150305	GOA
located in late endosome	IDA IDA: 通过直接分析推断	15128704	GOA
located in lysosomal membrane	IDA IDA: 通过直接分析推断	11150305	GOA
located in lysosome	IDA IDA: 通过直接分析推断	11855931	GOA
located in melanosome	IDA IDA: 通过直接分析推断	22649030	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	18337546	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

CTNS 蛋白结构

PQ-loop

0
100
200
300
367 a.a.

蛋白主名

其他名称

cystinosin

cystinosis nephropathic

关联疾病

疾病名称

别名

Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type

Juvenile Nephropathic Cystinosis	Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic
Cystinosis, Intermediate	Intermediate Cystinosis
Juvenile Cystinosis	CTNSJAN
Cystinosis Intermediate

Cystinosis, Adult Nonnephropathic

Cystinosis, Ocular Nonnephropathic	Ocular Cystinosis
Cystinosis, Benign Nonnephropathic	Adult-Onset Cystinosis
Non-Nephropathic Cystinosis	Cystinosis, Adult, Non-Nephropathic Type
CTNSANN	Cystinosis Adult Nonnephropathic
Cystinosis Benign Nonnephropathic	Cystinosis Ocular Nonnephropathic
Cystinosis, Benign, Nonnephropathic

Cystinosis, Nephropathic

Cystinosis, Atypical Nephropathic	Nephropathic Cystinosis
CTNS	Lysosomal Cystine Transport Protein, Defect Of
Cystinosin, Defect Of	Cystinosis, Nephropathic Type
Cystinosis Atypical Nephropathic	Cystinosis Infantile Nephropathic
Defect Of Cystinosin	Defect Of Lysosomal Cystine Transport Protein
Fanconi Syndrome

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

Cystinosis

Cystine Storage Disease	Cystine Diathesis
Cystine Disease	Cystinoses
Protein Defect Of Cystin Transport	Cystin Transport, Protein Defect Of
Nephropathic Cystinosis	Protein Defect Of Cystine Transport

Lysosomal Storage Disease

Lysosomal Storage Diseases	Disorder Of Lysosomal Enzyme
Inborn Lysosomal Enzyme Disorder	Lysosomal Storage Metabolism Disorder
Lysosomal Storage Disorder

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Corneal Dystrophy, Band-Shaped

Band Keratopathy

Band-Shaped Keratopathy

Conjunctival Deposit

Scheie Syndrome

Mucopolysaccharidosis Type Is	Alpha-L-Iduronidase Deficiency
Mucopolysaccharidosis Type I	Mucopolysaccharidosis I
Hurler-Scheie Syndrome	Mucopolysaccharidosis Type 1
Mucopolysaccharidosis Is	Mucopolysaccharidosis Type 1s
Mucopolysaccharidosis Type V	Hurler Syndrome
Idua Deficiency	Mps I
MPS1S	Mps1-S
Mucopolysaccharidosis Type V, Formerly	Mps V, Formerly
Mps5, Formerly	Lipochondrodystrophy
Mpsis	Mucopolysaccharidosis, Type I
Iduronidase Deficiency Disease	Mps I - Hurler Syndrome
Mucopolysaccharidosis, Mps-I	Mucopolysaccharidosis, Type 1
Attenuated Mps I	Mps 1
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)	Severe Mps I
Mps I H	Mps I H-S
Mps I S	Mps1
Mpsi	Mucopolysaccharidosis 1s
Mps Is	Mps-Is
Mps V	Mucopolysaccharidosis V
Pfaundler-Hurler Syndrome	L-Iduronidase Deficiency
Dysostosis Multiplex	Dysostosis Multiplex Syndrome
Gargoylism	Mps1 - [Mucopolysaccharidosis Type 1]

Corneal Deposit

Deposits - Cornea

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Aspartylglucosaminuria

Aspartylglycosaminuria	Glycosylasparaginase Deficiency
Aspartylglucosaminidase Deficiency	Aga Deficiency
AGU	Aspartylglucosamidase Deficiency
Glycoasparaginase	Aspartylglucosamidase Deficiency
Hyperammonemia, Type Iii

Dent Disease 1

Dent Disease	Dent'S Disease
Dent Disease 2	Dent Disease Type 1
DENT1	Urolithiasis, Hypercalciuric, X-Linked
Nephrolithiasis 2	Nphl2
Dent Syndrome	Dents Disease
Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis	Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets	X-Linked Recessive Nephrolithiasis
Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones	Nephrolithiasis, Hypercalciuric, X-Linked
Nephrolithiasis-Hypercalciuria X-Linked Recessive	Nephrolithiasis, X-Linked Recessive
Dent Disease, Type 1

Osteogenesis Imperfecta, Type Vi

OI6	Osteogenesis Imperfecta Type 6
Osteogenesis Imperfecta Type Vi	Oi Type Vi
Oi Type 6	Osteogenesis Imperfecta Type
Serpinfi- Related Osteogenesis Imperfecta	Osteogenesis Imperfecta 6
Oi-Vi

Corneal Degeneration

Degenerative Corneal Opacity

Filamentary Keratitis

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-NP196	Human cardiac troponin (mixture)		/	否
HY-RS03313	CTNS Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	CTNS	MGD	MGI:1932872
Felis catus	CTNS	VGNC	VGNC:61259
Rattus norvegicus	CTNS	RGD	RGD:1308466
Macaca mulatta	CTNS	VGNC	VGNC:71548
Bos taurus	CTNS	VGNC	VGNC:27807
Canis familiaris	CTNS	VGNC	VGNC:39703

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CTNS - cystinosin, lysosomal cystine transporter Gene

关于 CTNS

功能概要

CTNS 基因产物(7)

CTNS 蛋白结构

关联疾病

直系同源

热门区域

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CTNS - cystinosin, lysosomal cystine transporter Gene

关于 CTNS

功能概要

CTNS 基因产物(7)

CTNS 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z