CWF19L1 - CWF19 like cell cycle control factor 1 Gene

Also Known as C19L1; hDrn1; SCAR17

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55280

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03376	CWF19L1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CWF19L1	NCBI