SIMC1 - SUMO interacting motifs containing 1 Gene

Also Known as OOMA1; PLEIAD; C5orf25

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 375484

About SIMC1

Cytogenetic location: 5q35.2 Genomic coordinates (GRCh38): 5:176,238,424-176,345,989 (from NCBI)

This gene has 11 transcripts (splice variants), 186 orthologues and 2 paralogues. Broad expression in testis (RPKM 8.3), ovary (RPKM 7.8) and 23 other tissues.

Summary

Enables SUMO polymer binding activity and peptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Located in sarcomere. [provided by Alliance of Genome Resources, Apr 2022]

SIMC1 Products (4)

mRNA Protein Name
NM_001308195.2 NP_001295124.1 SUMO-interacting motif-containing protein 1 isoform a
NM_001308196.2 NP_001295125.1 SUMO-interacting motif-containing protein 1 isoform c
NM_001308200.2 NP_001295129.1 SUMO-interacting motif-containing protein 1 isoform d
NM_198567.6 NP_940969.3 SUMO-interacting motif-containing protein 1 isoform b
Molecular Function GO Annotation Evidence References Source
enables SUMO polymer binding IDA
IDA: Inferred from direct assay
23086935 GOA
enables peptidase inhibitor activity IDA
IDA: Inferred from direct assay
23707407 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21900206 GOA
Cellular Component GO Annotation Evidence References Source
located in PML body IDA
IDA: Inferred from direct assay
36373674 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
23707407 GOA
located in sarcomere IDA
IDA: Inferred from direct assay
23707407 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
Protein Preferred Names Protein Names

SUMO-interacting motif-containing protein 1

  • oocyte maturation associated 1

SIMC1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SIMC1 Q8NDZ2 SLF2 Homo sapiens Q8IX21 36373674
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Mucopolysaccharidosis, Type Iiid
  • Mucopolysaccharidosis Type Iiid

  • MPS3D

  • Mps Iiid

  • N-Acetylglucosamine-6-Sulfatase Deficiency

  • Sanfilippo Syndrome D

  • Gns Deficiency

  • Mucopolysaccharidosis Type 3d

  • Sanfilippo Syndrome Type D

  • Glucosamine N-Acetyl-6-Sulfatase Deficiency

  • Mpsiiid

  • Mps 3d

  • Mucopoly-Saccharidosis Type 3d

  • N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency

  • Mps Iii-D

  • Mucopolysaccharidosis 3d

  • Sanfilippo D Syndrome

  • Mps Iii D

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
Mus musculus SIMC1 MGD MGI:2442599
Rattus norvegicus SIMC1 RGD RGD:2319689
Felis catus SIMC1 VGNC VGNC:65149
Canis familiaris SIMC1 VGNC VGNC:46176
Bos taurus SIMC1 VGNC VGNC:54482
Macaca mulatta SIMC1 VGNC VGNC:77304
Others SIMC1 NCBI