CWF19L1 - CWF19 like cell cycle control factor 1 Gene

Homo sapiens

Also known as C19L1; hDrn1; SCAR17

Gene ID: 55280 | Gene type: protein coding

About CWF19L1

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,232,298-100,267,638 (from NCBI)

This gene has 8 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 8.4), testis (RPKM 8.0) and 25 other tissues.

Summary

This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

CWF19L1 Products(5)

mRNA	Protein	Name
NM_001303404.2	NP_001290333.1	CWF19-like protein 1 isoform 2
NM_001303405.2	NP_001290334.1	CWF19-like protein 1 isoform 3
NM_001303406.2	NP_001290335.1	CWF19-like protein 1 isoform 3
NM_001303407.2	NP_001290336.1	CWF19-like protein 1 isoform 4
NM_018294.6	NP_060764.3	CWF19-like protein 1 isoform 1

CWF19L1 Protein Structure

CwfJ_C_1

CwfJ_C_2

0
100
200
300
400
500
538 a.a.

Protein Preferred Names

Protein Names

CWF19-like protein 1

CWF19 like 1, cell cycle control

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia, Autosomal Recessive 17

Autosomal Recessive Spinocerebellar Ataxia 17	SCAR17
Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency	Spinocerebellar Ataxia Autosomal Recessive Type 17
Spinocerebellar Ataxia, Autosomal Recessive, 17	Ataxia, Spinocerebellar, Autosomal Recessive, Type 17

Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities

CECBA	Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Canpmr	Nonprogressive Cerebellar Ataxia With Mental Retardation
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Cerebellar, Nonprogressive, With Mental Retardation

Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Type 17	SCA17
Huntington Disease-Like 4	Hdl4
Olivopontocerebellar Atrophy V	Cerebelloparenchymal Disorder Ii
Opca5	Cpd2
Sca 17	Ataxia, Spinocerebellar, Type 17

Donnai-Barrow Syndrome

Faciooculoacousticorenal Syndrome	Dbs/Foar Syndrome
Foar Syndrome	Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome
Facio-Oculo-Acoustico-Renal Syndrome	Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome	Holmes-Schepens Syndrome
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness	DBS
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria	Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis
Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome	Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss
Donnai Barrow Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24	Autosomal Recessive Spinocerebellar Ataxia 24
Spinocerebellar Ataxia, Autosomal Recessive, 24	Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

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-RS03376	CWF19L1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CWF19L1	VGNC	VGNC:57313
Mus musculus	CWF19L1	MGD	MGI:1919752
Canis familiaris	CWF19L1	VGNC	VGNC:56111
Felis catus	CWF19L1	VGNC	VGNC:61294
Rattus norvegicus	CWF19L1	RGD	RGD:1304716
Macaca mulatta	CWF19L1	VGNC	VGNC:103804

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