SCLT1 - sodium channel and clathrin linker 1 Gene

Also Known as CAP1A; CAP-1A

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 132320

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	23348840	GOA
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	23348840	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in centriole	IDA IDA: Inferred from direct assay	23348840	GOA
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
part of ciliary transition fiber	IDA IDA: Inferred from direct assay	23348840	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

Protein Preferred Names	Protein Names
sodium channel and clathrin linker 1	sodium channel-associated protein 1

関連疾患

Diseases	Alias
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

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS12513	SCLT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	SCLT1	NCBI