2. Gene
  3. SCLT1 - sodium channel and clathrin linker 1 Gene

SCLT1 - sodium channel and clathrin linker 1 Gene

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

中文名称：钠通道和网格蛋白接头 1

种属: Homo sapiens

同用名: CAP1A; CAP-1A

基因 ID: 132320 | 基因类型: protein coding

关于 SCLT1

Cytogenetic location: 4q28.2 Genomic coordinates (GRCh38): 4:128,873,241-129,093,539 (from NCBI)

This gene has 10 transcripts (splice variants), 192 orthologues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 5.4), spleen (RPKM 4.9) and 25 other tissues.

功能概要

该基因编码衔接蛋白。对大鼠相关基因的研究表明，编码的蛋白质起到连接网格蛋白和钠通道蛋白 10 型亚基 α 蛋白的作用。编码的蛋白质也已被确定为纤毛发生所必需的中心粒远端附属物的组成部分。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 7 月]

This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the Sodium Channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

SCLT1 基因产物(4)

mRNA Protein Name
NM_001300897.2 NP_001287826.1 sodium channel and clathrin linker 1 isoform 2
NM_001300898.2 NP_001287827.1 sodium channel and clathrin linker 1 isoform 3
NM_001410807.1 NP_001397736.1 sodium channel and clathrin linker 1 isoform 4
NM_144643.4 NP_653244.2 sodium channel and clathrin linker 1 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within cilium assembly IMP
IMP: 通过突变表型推断
23348840 GOA
involved in cilium assembly IMP
IMP: 通过突变表型推断
23348840 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centriole IDA
IDA: 通过直接分析推断
23348840 GOA
located in centrosome IDA
IDA: 通过直接分析推断
21399614 GOA
part of ciliary transition fiber IDA
IDA: 通过直接分析推断
23348840 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
蛋白主名 其他名称

sodium channel and clathrin linker 1

sodium channel-associated protein 1

关联疾病

疾病名称 别名
Orofaciodigital Syndrome Ix

OFD9

Orofaciodigital Syndrome With Retinal Abnormalities

Oral-Facial-Digital Syndrome With Retinal Abnormalities

Orofaciodigital Syndrome 9

Oral-Facial-Digital Syndrome Type 9

Ofds Ix

Oral-Facial-Digital Syndrome, Type Ix

Ofd Syndrome 9

Ofds 9

Oral Facial Digital Syndrome 9

Oral Facial Digital Syndrome Type 9

Orofaciodigital Syndrome Type 9

Orofaciodigital Syndrome, Type Ix
Nephronophthisis 18

NPHP18

Nephronophthisis, Type 18
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation

Lymphedema, Microcephaly And Chorioretinopathy Syndrome

Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability

MCLMR

Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome

Mlcrd Syndrome

Cdmmr Syndrome

Lymphedema And Retinal Folds With Microcephaly And Microphthalmos

Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome

Microcephaly Lymphedema Chorioretinal Dysplasia

Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant

Lymphedema, Microcephaly, Chorioretinopathy Syndrome

Lymphedema And Retinal Folds With Ficrocephaly And Microphthalmos

Chorioretinal Dysplasia-Microcephaly-Intellectual Disability Syndrome

Microcephaly-Lymphedema-Chorioretinopathy Syndrome

Mlcrd

Lymphedema Microcephaly Chorioretinopathy Syndrome

Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome

Microcephaly With Or Without Chorioretinopathy, Lymphedema Or Intellectual Disability

Microcephaly With/Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Orofaciodigital Syndrome

Oral-Facial-Digital Syndrome

Orofaciodigital Syndromes

Ofd

Oral Facial Digital Syndromes

Oral-Facial-Digital Syndromes

Dysplasia Linguofacialis

Ofds

Oro-Facio-Digital Syndrome

Orodigitofacial Dysostosis

Orodigitofacial Syndrome

Oral Facial Digital Syndrome

Orofaciodigital Syndrome I
Spinocerebellar Ataxia 11

Spinocerebellar Ataxia Type 11

SCA11

Spinocerebellar Ataxia-11

Ataxia, Spinocerebellar, Type 11
Hydrolethalus Syndrome 1

Hydrolethalus Syndrome

HLS1

Salonen-Herva-Norio Syndrome

Hls

Hydrolethalus

Hydrolethalus Syndrome, Type 1
Neu-Laxova Syndrome 2

NLS2
Orofaciodigital Syndrome I

OFD1

Orofaciodigital Syndrome 1

Oral-Facial-Digital Syndrome, Type I

Oral-Facial-Digital Syndrome 1

Ofds I

Papillon-Leage And Psaume Syndrome

Papillon-Leage-Psaume Syndrome

Oral-Facial-Digital Syndrome Type 1

Orofaciodigital Syndrome Type 1

Orofaciodigital Syndromes

Orofaciodigital Syndrome Type I

Oral-Facial-Digital Syndrome Type I

Ofd Syndrome 1

Ofds 1

Oral Facial Digital Syndrome 1

Oral Facial Digital Syndrome Type 1

Papillon-League-Psaume Syndrome

Ofdi

Ofdsi

Orofaciodigital Syndrome, Type I
Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary
Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1
Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
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
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-RS12513 SCLT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus SCLT1 MGD MGI:1914411
Felis catus SCLT1 VGNC VGNC:64915
Canis familiaris SCLT1 VGNC VGNC:54813
Bos taurus SCLT1 VGNC VGNC:59362
Macaca mulatta SCLT1 VGNC VGNC:77110
Rattus norvegicus SCLT1 RGD RGD:628721
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