country

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

CWC27 - CWC27 spliceosome associated cyclophilin Gene

Also Known as RPSKA; NY-CO-10; SDCCAG10; SDCCAG-10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10283

About CWC27

Cytogenetic location: 5q12.3 Genomic coordinates (GRCh38): 5:64,768,918-65,018,763 (from NCBI)

This gene has 29 transcripts (splice variants), 207 orthologues, 22 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 2.3), brain (RPKM 1.8) and 25 other tissues.

Summary

Predicted to enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein peptidyl-prolyl isomerization. Located in nucleoplasm. Part of U2-type precatalytic spliceosome and catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Apr 2022]

CWC27 Products (5)

mRNA	Protein	Name
NM_001297644.1	NP_001284573.1	spliceosome-associated protein CWC27 homolog isoform 2
NM_001297645.2	NP_001284574.1	spliceosome-associated protein CWC27 homolog isoform 3
NM_001318000.2	NP_001304929.1	spliceosome-associated protein CWC27 homolog isoform 4
NM_001364478.1	NP_001351407.1	spliceosome-associated protein CWC27 homolog isoform 5
NM_005869.4	NP_005860.2	spliceosome-associated protein CWC27 homolog isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
NOT enables peptidyl-prolyl cis-trans isomerase activity	IDA IDA: Inferred from direct assay	20676357	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of U2-type precatalytic spliceosome	IDA IDA: Inferred from direct assay	29360106	GOA
part of catalytic step 2 spliceosome	IDA IDA: Inferred from direct assay	11991638	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

CWC27 Protein Structure

Pro_isomerase

0
100
200
300
400
472 a.a.

Protein Preferred Names	Protein Names
spliceosome-associated protein CWC27 homolog	CWC27 spliceosome associated protein homolog

Related Diseases

Diseases	Alias
Retinitis Pigmentosa With Or Without Skeletal Anomalies	RPSKA Metaphyseal Chondrodysplasia With Retinitis Pigmentosa Metaphyseal Chondrodysplasia-Retinitis Pigmentosa Syndrome Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome Retinitis Pigmentosa, With/Without Skeletal Anomalies
Retinal Degeneration	Degeneration Of Retina
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Burn-Mckeown Syndrome	Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome Oculootofacial Dysplasia BMKS Oofd Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome Choanal Atresia Deafness Cardiac Defects Dysmorphism Oculo-Oto-Facial Dysplasia
Brachydactyly
Acrofacial Dysostosis 1, Nager Type	Nager Syndrome Nager Acrofacial Dysostosis AFD1 Preaxial Acrofacial Dysostosis Mandibulofacial Dysostosis, Treacher Collins Type, With Limb Anomalies Afd, Nager Type Nager Acrofacial Dysostosis Syndrome Nafd Acrofacial Dysostosis, Nager Type Afd Preaxial Manibulofacial Dysostosis Split Hand Deformity-Mandibulofacial Dysostosis Preaxial Mandibulofacial Dysostosis Mandibulofacial Dysostosis With Preaxial Limb Anomalies Preaxial Acrodysostosis Afd Nager Type Mandibulofacial Dysostosis Treacher Collins Type With Limb Anomalies
Mandibulofacial Dysostosis, Guion-Almeida Type	Mandibulofacial Dysostosis With Microcephaly Mandibulofacial Dysostosis-Microcephaly Syndrome MFDGA MFDM Mfdm Syndrome Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome Dysostosis, Mandibulofacial, Guion-Almeida Type
Tarp Syndrome	TARPS Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava Pierre Robin Sequence - Congenital Heart Defect - Talipes Pierre Robin Syndrome - Congenital Heart Defect - Talipes Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava
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
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

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-RS03375	CWC27 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CWC27	VGNC	VGNC:71396
Canis familiaris	CWC27	VGNC	VGNC:39743
Bos taurus	CWC27	VGNC	VGNC:27843
Felis catus	CWC27	VGNC	VGNC:61293
Mus musculus	CWC27	MGD	MGI:1914535
Rattus norvegicus	CWC27	RGD	RGD:1310697