CWC27 - CWC27 spliceosome associated cyclophilin Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子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 参考文献 由来
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 参考文献 由来
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

Pro_isomerase: Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD (17 - 166)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 472 a.a.
Protein Preferred Names Protein Names

spliceosome-associated protein CWC27 homolog

  • CWC27 spliceosome associated protein homolog

関連疾患

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)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS03375 CWC27 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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