1. Gene
  2. SMU1 - SMU1 DNA replication regulator and spliceosomal factor Gene

SMU1 - SMU1 DNA replication regulator and spliceosomal factor Gene

Homo sapiens

Also known as BWD; SMU-1; fSAP57

Gene ID: 55234 | Gene type: protein coding

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

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)

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  • 513 a.a.
Protein Preferred Names Protein Names

WD40 repeat-containing protein SMU1

DNA replication regulator and spliceosomal factor

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