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

    Gene ID: 375484, updated on 14-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
    mouse all
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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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    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)

    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 
    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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