SCLT1 - sodium channel and clathrin linker 1 Gene

Homo sapiens

Also known as CAP1A; CAP-1A

Gene ID: 132320 | Gene type: protein coding

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

Protein Preferred Names

Protein Names

sodium channel and clathrin linker 1

sodium channel-associated protein 1

Related Diseases

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12513	SCLT1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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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