SMU1 - SMU1 DNA replication regulator and spliceosomal factor Gene

Also Known as BWD; SMU-1; fSAP57

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55234

About SMU1

Cytogenetic location: 9p21.1 Genomic coordinates (GRCh38): 9:33,041,765-33,076,674 (from NCBI)

This gene has 1 transcript (splice variant) and 212 orthologues. Ubiquitous expression in brain (RPKM 7.9), thyroid (RPKM 7.2) and 25 other tissues.

Summary

Involved in mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Apr 2022]

SMU1 Products (1)

mRNA Protein Name
NM_018225.3 NP_060695.2 WD40 repeat-containing protein SMU1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
21516116 GOA
Biological Process GO Annotation Evidence References Source
involved in mRNA splicing, via spliceosome IDA
IDA: Inferred from direct assay
28781166 GOA
Cellular Component GO Annotation Evidence References Source
part of U2-type precatalytic spliceosome IDA
IDA: Inferred from direct assay
28781166 GOA
located in nucleus IDA
IDA: Inferred from direct assay
28781166 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

SMU1 Protein Structure

WD40

WD40: WD domain, G-beta repeat (214 - 242)

WD40

WD40: WD domain, G-beta repeat (265 - 292)

WD40

WD40: WD domain, G-beta repeat (296 - 333)

WD40

WD40: WD domain, G-beta repeat (339 - 377)

WD40

WD40: WD domain, G-beta repeat (475 - 512)

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

WD40 repeat-containing protein SMU1

  • DNA replication regulator and spliceosomal factor

SMU1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SMU1 Q2TAY7 CERT1 Homo sapiens Q9Y5P4-2 32296183
Intra
SMU1 Q2TAY7 CERT1 Homo sapiens Q9Y5P4-2 32296183
Intra
SMU1 Q2TAY7 CERT1 Homo sapiens Q9Y5P4-2 32296183
Intra
SMU1 Q2TAY7 MSS51 Homo sapiens Q4VC12 32296183
Intra
SMU1 Q2TAY7 MSS51 Homo sapiens Q4VC12 32296183
Intra
SMU1 Q2TAY7 MSS51 Homo sapiens Q4VC12 32296183
Intra
SMU1 Q2TAY7 TLX3 Homo sapiens O43711 32296183
Intra
SMU1 Q2TAY7 TLX3 Homo sapiens O43711 32296183
Intra
SMU1 Q2TAY7 RASSF10 Homo sapiens A6NK89 32296183
Intra
SMU1 Q2TAY7 RASSF10 Homo sapiens A6NK89 32296183
Intra
SMU1 Q2TAY7 IK Homo sapiens Q13123 33961781
Intra
SMU1 Q2TAY7 IK Homo sapiens Q13123 28514442
Intra
SMU1 Q2TAY7 IK Homo sapiens Q13123 34694367
Intra
SMU1 Q2TAY7 IK Homo sapiens Q13123 22365833
Intra
SMU1 Q2TAY7 WFS1 Homo sapiens O76024 32814053
Intra
SMU1 Q2TAY7 WFS1 Homo sapiens O76024 32814053
Intra
SMU1 Q2TAY7 WFS1 Homo sapiens O76024 32814053
Intra
SMU1 Q2TAY7 NDUFV1 Homo sapiens P49821 32814053
Intra
SMU1 Q2TAY7 NDUFV1 Homo sapiens P49821 32814053
Intra
SMU1 Q2TAY7 NDUFV1 Homo sapiens P49821 32814053
Intra
SMU1 Q2TAY7 MRFAP1L1 Homo sapiens Q96HT8 32296183
Intra
SMU1 Q2TAY7 MRFAP1L1 Homo sapiens Q96HT8 25416956
Intra
SMU1 Q2TAY7 MRFAP1L1 Homo sapiens Q96HT8 32296183
Intra
SMU1 Q2TAY7 MRFAP1L1 Homo sapiens Q96HT8
Y2H
21516116
Intra
SMU1 Q2TAY7 MRFAP1L1 Homo sapiens Q96HT8 32296183
Intra
SMU1 Q2TAY7 MRFAP1 Homo sapiens Q9Y605 32296183
Intra
SMU1 Q2TAY7 MRFAP1 Homo sapiens Q9Y605 32296183
Intra
SMU1 Q2TAY7 MRFAP1 Homo sapiens Q9Y605 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Influenza
  • Flu

  • Influenza With Non-Respiratory Manifestation

  • Influenza With Other Manifestations

  • Influenza, Human

  • Influenza, Susceptibility To

  • Seasonal Influenza, Virus Identified

Mandibular Cancer
  • Mandibular Neoplasms

  • Malignant Neoplasm Of Inferior Maxilla

  • Malignant Neoplasm Of Lower Jaw Bone

  • Malignant Neoplasm Of Mandible

  • Mandible Cancer

  • Mandibular Neoplasm

  • Neoplasm Of Mandible

Exudative Vitreoretinopathy 2, X-Linked
  • EVR2

  • Evrx

  • Fevrx

  • X-Linked Exudative Vitreoretinopathy 2

  • Exudative Vitreoretinopathy, Familial, 2

  • Fevr, X-Linked

  • Vitreoretinopathy, Exudative 2

  • Exudative Vitreoretinopathy Familial 2

  • Fevr X-Linked

  • X-Linked Familial Exudative Vitreoretinopathy

  • Vitreoretinopathy, Exudative, X-Linked, Type 2

  • Exudative Vitreoretinopathy, Familial, X-Linked Recessive

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SMU1 RGD RGD:620694
Macaca mulatta SMU1 VGNC VGNC:77733
Bos taurus SMU1 VGNC VGNC:35038
Canis familiaris SMU1 VGNC VGNC:46578
Felis catus SMU1 VGNC VGNC:97637
Mus musculus SMU1 MGD MGI:1915546
Others SMU1 NCBI