CWC27 - CWC27 spliceosome associated cyclophilin Gene

Homo sapiens

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

Gene ID: 10283 | Gene type: protein coding

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	Reference	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	Reference	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

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

Name
Email *

	Sorry, but the email address you supplied was invalid.