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SIMC1 SUMO interacting motifs containing 1 [ Homo sapiens (human) ]

Gene ID: 375484, updated on 2-Nov-2024

Summary

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Official Symbol
SIMC1provided by HGNC
Official Full Name
SUMO interacting motifs containing 1provided by HGNC
Primary source
HGNC:HGNC:24779
See related
Ensembl:ENSG00000170085 MIM:618102; AllianceGenome:HGNC:24779
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OOMA1; PLEIAD; C5orf25
Summary
Enables SUMO polymer binding activity and peptidase inhibitor activity. Predicted to be involved in negative regulation of peptidase activity. Located in PML body and sarcomere. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 8.3), ovary (RPKM 7.8) and 23 other tissues See more
Orthologs
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Genomic context

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See SIMC1 in Genome Data Viewer
Location:
5q35.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (176238424..176345989)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (176781997..176890337)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (175665427..175772992)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175559705-175560206 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175560207-175560706 Neighboring gene Sharpr-MPRA regulatory region 12759 Neighboring gene selenophosphate synthetase 1 pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175579338-175580322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175580323-175581305 Neighboring gene CEP192 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:175588089-175588329 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:175610533-175611123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:175621561-175622251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175624383-175624884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16648 Neighboring gene BRCA1/BRCA2-containing complex subunit 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23680 Neighboring gene KIAA1191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16649 Neighboring gene microRNA 1271 Neighboring gene ARF like GTPase 10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A FRET Sensor to Monitor Bivalent SUMO-SIM Interactions in SUMO Chain Binding. Kost LJ, et al. Chembiochem, 2018 Jan 18. PMID 29120074
  2. PLEIAD/SIMC1/C5orf25, a novel autolysis regulator for a skeletal-muscle-specific calpain, CAPN3, scaffolds a CAPN3 substrate, CTBP1. Ono Y, et al. J Mol Biol, 2013 Aug 23. PMID 23707407, Free PMC Article
  3. Poly-small ubiquitin-like modifier (PolySUMO)-binding proteins identified through a string search. Sun H, et al. J Biol Chem, 2012 Dec 7. PMID 23086935, Free PMC Article
  4. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Connaughton DM, et al. Am J Hum Genet, 2020 Oct 1. PMID 32891193, Free PMC Article
  5. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. Brill LM, et al. Anal Chem, 2004 May 15. PMID 15144186

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Authors found that PLEIAD also interacts with CTBP1 (C-terminal binding protein 1), a transcriptional co-regulator, and CTBP1 is proteolyzed in COS7 cells expressing CAPN3.
    Title: PLEIAD/SIMC1/C5orf25, a novel autolysis regulator for a skeletal-muscle-specific calpain, CAPN3, scaffolds a CAPN3 substrate, CTBP1.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ44216, FLJ56998, MGC33586, MGC40402, MGC90345

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SUMO polymer binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables SUMO polymer binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables peptidase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of peptidase activity IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in PML body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sarcomere IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
SUMO-interacting motif-containing protein 1
Names
oocyte maturation associated 1
platform element for inhibition of autolytic degradation

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001308195.2 → NP_001295124.1  SUMO-interacting motif-containing protein 1 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AK299336, BC032390, HY028607, KF151170
    Consensus CDS
    CCDS78088.1
    UniProtKB/Swiss-Prot
    Q8NDZ2
    UniProtKB/TrEMBL
    B4DRM7, F6R0L0, R9TJD7
    Related
    ENSP00000410552.3, ENST00000429602.7
    Conserved Domains (1) summary
    PHA03307
    Location:142 → 368
    PHA03307; transcriptional regulator ICP4; Provisional

  2. NM_001308196.2 → NP_001295125.1  SUMO-interacting motif-containing protein 1 isoform c

    See identical proteins and their annotated locations for NP_001295125.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains two additional exons in the 5' region, resulting in differences in the 5' UTR and translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC139493, AK299336, BC032390, BC037298, HY028607
    Consensus CDS
    CCDS78089.1
    UniProtKB/Swiss-Prot
    F6R0L0, J3KQQ8, Q6NXN8, Q6ZTU4, Q8IZ15, Q8NDZ2, R9TJD7
    Related
    ENSP00000406571.1, ENST00000443967.5
    Conserved Domains (1) summary
    PHA03307
    Location:124 → 349
    PHA03307; transcriptional regulator ICP4; Provisional

  3. NM_001308200.2 → NP_001295129.1  SUMO-interacting motif-containing protein 1 isoform d

    See identical proteins and their annotated locations for NP_001295129.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks several 5' exons but contains an alternate 5' terminal exon, resulting in differences in the 5' UTR and translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC139493, BC073880
    Consensus CDS
    CCDS78090.1
    UniProtKB/Swiss-Prot
    Q8NDZ2
    Related
    ENSP00000331311.4, ENST00000332772.4

  4. NM_198567.6 → NP_940969.3  SUMO-interacting motif-containing protein 1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    BC066980, BC073880, HY028607
    Consensus CDS
    CCDS4398.2
    UniProtKB/Swiss-Prot
    Q8NDZ2
    Related
    ENSP00000342075.6, ENST00000341199.10

RNA

  1. NR_131772.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon in the 5' region and splices out a segment of the 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC066980, BU684936, HY028607, KF151170

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    176238424..176345989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534556.3 → XP_011532858.1  SUMO-interacting motif-containing protein 1 isoform X3

    Conserved Domains (1) summary
    PHA03307
    Location:119 → 345
    PHA03307; transcriptional regulator ICP4; Provisional

  2. XM_011534554.3 → XP_011532856.1  SUMO-interacting motif-containing protein 1 isoform X2

    Conserved Domains (1) summary
    PHA03307
    Location:146 → 372
    PHA03307; transcriptional regulator ICP4; Provisional

  3. XM_011534553.3 → XP_011532855.1  SUMO-interacting motif-containing protein 1 isoform X1

    Conserved Domains (1) summary
    PHA03307
    Location:146 → 372
    PHA03307; transcriptional regulator ICP4; Provisional

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    176781997..176890337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352561.1 → XP_054208536.1  SUMO-interacting motif-containing protein 1 isoform X3

  2. XM_054352559.1 → XP_054208534.1  SUMO-interacting motif-containing protein 1 isoform X1

  3. XM_054352560.1 → XP_054208535.1  SUMO-interacting motif-containing protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NDZ2.3 GenPept UniProtKB/Swiss-Prot:Q8NDZ2

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