2. Gene
  3. SLC7A14 - solute carrier family 7 member 14 Gene

SLC7A14 - solute carrier family 7 member 14 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 7 成员 14

种属: Homo sapiens

同用名: PPP1R142

基因 ID: 57709 | 基因类型: protein coding

关于 SLC7A14

Cytogenetic location: 3q26.2 Genomic coordinates (GRCh38): 3:170,459,548-170,586,075 (from NCBI)

This gene has 2 transcripts (splice variants), 217 orthologues, 12 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 21.6) and adrenal (RPKM 2.0).

功能概要

预计该基因编码具有 14 个跨膜结构域的糖基化阳离子氨基酸转运蛋白。该基因主要在皮肤成纤维细胞、神经组织和原代内皮细胞中表达，其蛋白质预计可介导阳离子氨基酸的溶酶体摄取。该基因的突变与常染色体隐性遗传性视网膜色素变性有关。在小鼠中，该基因在视网膜的感光层中表达，在视网膜发育过程中其表达增加，并持续存在于成熟的视网膜中。[RefSeq 提供，2014 年 4 月]

This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic Amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]

SLC7A14 基因产物(1)

mRNA Protein Name
NM_020949.3 NP_066000.2 probable cationic amino acid transporter
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

SLC7A14 蛋白结构

AA_permease_2

AA_permease_2: Amino acid permease (53 - 434)

AA_permease_C

AA_permease_C: C-terminus of AA_permease (627 - 677)

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

probable cationic amino acid transporter

protein phosphatase 1, regulatory subunit 142

SLC7A14 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra SLC7A14 Q8TBB6 IL10RA Homo sapiens Q13651
Y2H Prey Pooling
32296183
Intra SLC7A14 Q8TBB6 IL10RA Homo sapiens Q13651
Y2H Array
32296183
Intra SLC7A14 Q8TBB6 NINJ2 Homo sapiens Q9NZG7
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 ADGRE2 Homo sapiens Q9UHX3
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 MFF Homo sapiens Q9GZY8-5
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 AIG1 Homo sapiens Q9NVV5-2
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 DCBLD2 Homo sapiens Q96PD2-2
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 TREX1 Homo sapiens Q9NSU2-1
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 FAM209A Homo sapiens Q5JX71
Y2H Prey Pooling
32296183
Intra SLC7A14 Q8TBB6 FAM209A Homo sapiens Q5JX71
Y2H Array
32296183
Intra SLC7A14 Q8TBB6 UBIAD1 Homo sapiens Q9Y5Z9
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 ACSL5 Homo sapiens Q9ULC5
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 TECR Homo sapiens Q9NZ01
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 FKBP7 Homo sapiens Q9Y680
Y2H Prey Pooling
32296183
Intra SLC7A14 Q8TBB6 FKBP7 Homo sapiens Q9Y680
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 FKBP7 Homo sapiens Q9Y680
Y2H Array
32296183
Intra SLC7A14 Q8TBB6 DERL1 Homo sapiens Q9BUN8
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 MMGT1 Homo sapiens Q8N4V1
Y2H Array
32296183
Intra SLC7A14 Q8TBB6 MMGT1 Homo sapiens Q8N4V1
Y2H Prey Pooling
32296183
Intra SLC7A14 Q8TBB6 VKORC1 Homo sapiens Q9BQB6
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 FATE1 Homo sapiens Q969F0
Y2H Prey Pooling
32296183
Intra SLC7A14 Q8TBB6 FATE1 Homo sapiens Q969F0
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 FATE1 Homo sapiens Q969F0
Y2H Array
32296183
Intra SLC7A14 Q8TBB6 YIPF6 Homo sapiens Q96EC8
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 YIPF6 Homo sapiens Q96EC8
Anti Tag CoIP
33961781
Intra SLC7A14 Q8TBB6 YIPF4 Homo sapiens Q9BSR8
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 SMCO4 Homo sapiens Q9NRQ5
Validated Y2H
32296183
Intra SLC7A14 Q8TBB6 CCDC167 Homo sapiens Q9P0B6
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Retinitis Pigmentosa 68

RP68

Retinitis Pigmentosa, Type 68
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Developmental And Epileptic Encephalopathy 3

Epileptic Encephalopathy, Early Infantile, 3

DEE3

Eiee3

Early Myoclonic Encephalopathy

Developmental And Epileptic Encephalopathy, 3

Early Infantile Epileptic Encephalopathy 3

Eme

Neonatal Epilepsy With Suppression-Burst Pattern

Encephalopathy, Epileptic, Early Infantile, Type 3
Retinitis Pigmentosa 42

RP42

Retinitis Pigmentosa-42

Retinitis Pigmentosa, Type 42
Cystinuria

CSNU

Cystinuria Type B

Cystinuria Type A

Cystinuria, Type I, Formerly

Csnu1, Formerly

Cystinuria, Type Ii, Formerly

Cystinuria, Type Iii, Formerly

Csnu3, Formerly

Cystinuria, Type Non-I, Formerly

Cystinuria-Lysinuria

Cystinuria-Lysinuria Syndrome

Csnu1

Csnu3

Cystinuria 1

Cystinuria Type A/B

Cystinuria Type I

Cystinuria Type Ii

Cystinuria Type Iii

Cystinuria Type Non-I

Cystinuria, Type A/B

Cystinuria Type 1

Cystinuria - Lysinuria

Csnu - [Cystinuria]

Cystine Disease
Iminoglycinuria

Iminoglycinuria, Digenic

IG
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
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-RS13327 SLC7A14 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta SLC7A14 VGNC VGNC:77791
Felis catus SLC7A14 VGNC VGNC:65424
Rattus norvegicus SLC7A14 RGD RGD:1594375
Mus musculus SLC7A14 MGD MGI:3040688
Canis familiaris SLC7A14 VGNC VGNC:46473
Bos taurus SLC7A14 VGNC VGNC:34927
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