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    SEM1 SEM1 26S proteasome subunit [ Homo sapiens (human) ]

    Gene ID: 7979, updated on 26-Nov-2024

    Summary

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    Official Symbol
    SEM1provided by HGNC
    Official Full Name
    SEM1 26S proteasome subunitprovided by HGNC
    Primary source
    HGNC:HGNC:10845
    See related
    Ensembl:ENSG00000127922 MIM:601285; AllianceGenome:HGNC:10845
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ECD; DSS1; SHFD1; SHFM1; SHSF1; PSMD15; Shfdg1; C7orf76
    Summary
    The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in liver (RPKM 89.9), colon (RPKM 83.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SEM1 in Genome Data Viewer
    Location:
    7q21.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (96481626..96709846, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (97717281..97945489, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (96110938..96339158, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375410 Neighboring gene uncharacterized LOC124901702 Neighboring gene RNA, U7 small nuclear 188 pseudogene Neighboring gene eDlx#19 enhancer in SHFM1 region Neighboring gene uncharacterized LOC105375411 Neighboring gene eDlx#18 enhancer in SHFM1 region Neighboring gene uncharacterized LOC105375412 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:96187264-96187852 Neighboring gene uncharacterized LOC107986825 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96214245-96214746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96214747-96215246 Neighboring gene eDlx#16 enhancer in SHFM1 region Neighboring gene eDlx#14 enhancer in SHFM1 region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96286728-96287228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:96287229-96287729 Neighboring gene Sharpr-MPRA regulatory region 6945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26297 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26298 Neighboring gene uncharacterized LOC105375414 Neighboring gene Sharpr-MPRA regulatory region 10792 Neighboring gene eDlx#8 enhancer in SHFM1 region Neighboring gene MARK2 pseudogene 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
    • 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. Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. Sharland M, et al. Am J Med Genet, 1991 Jun 15. PMID 1877619
    2. Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. Roberts SH, et al. J Med Genet, 1991 Jul. PMID 1895319, Free PMC Article
    3. Mutations in the BRCA2 interacting DSS1 are not a risk factor for male breast cancer. Syrjäkoski K, et al. Int J Cancer, 2007 Jan 15. PMID 17066443
    4. Sample size computation for association studies using case-parents design. Kharrat N, et al. J Genet, 2006 Dec. PMID 17406092
    5. Depletion of DSS1 protein disables homologous recombinational repair in human cells. Kristensen CN, et al. Mutat Res, 2010 Dec 10. PMID 20817001

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DSS1 restrains BRCA2's engagement with dsDNA for homologous recombination, replication fork protection, and R-loop homeostasis.
      Title: DSS1 restrains BRCA2's engagement with dsDNA for homologous recombination, replication fork protection, and R-loop homeostasis.
    2. SEM1 promotes tumor progression of glioblastoma via activating the akt signaling pathway.
      Title: SEM1 promotes tumor progression of glioblastoma via activating the akt signaling pathway.
    3. The disordered PCI-binding human proteins CSNAP and DSS1 have diverged in structure and function.
      Title: The disordered PCI-binding human proteins CSNAP and DSS1 have diverged in structure and function.
    4. Increased chemosensitivity via BRCA2-independent DNA damage in DSS1- and PCID2-depleted breast carcinomas.
      Title: Increased chemosensitivity via BRCA2-independent DNA damage in DSS1- and PCID2-depleted breast carcinomas.
    5. Cancer-causing BRCA2 missense mutations disrupt an intracellular protein assembly mechanism to disable genome maintenance.
      Title: Cancer-causing BRCA2 missense mutations disrupt an intracellular protein assembly mechanism to disable genome maintenance.
    6. DSS1 allosterically regulates the conformation of the tower domain of BRCA2 that has dsDNA binding specificity for homologous recombination.
      Title: DSS1 allosterically regulates the conformation of the tower domain of BRCA2 that has dsDNA binding specificity for homologous recombination.
    7. DSS1 and ssDNA regulate oligomerization of BRCA2.
      Title: DSS1 and ssDNA regulate oligomerization of BRCA2.
    8. Our work introduces for the first time RAD52 as another interacting partner of DSS1 and shows that both proteins are important players in the SSA and BIR pathways of DSB repair.
      Title: DSS1 interacts with and stimulates RAD52 to promote the repair of DSBs.
    9. Promoter methylation plays a role in modulating DSS1 gene expression. Promoter hypomethylation is a frequent event in melanoma and squamous cell carcinoma and is closely linked to poor prognosis.
      Title: DSS1 promoter hypomethylation and overexpression predict poor prognosis in melanoma and squamous cell carcinoma patients.
    10. DSS1 is a multifunctional and intrinsically disordered protein. (Review)
      Title: DSS1/Sem1, a Multifunctional and Intrinsically Disordered Protein.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-05-14)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-05-14)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.
    EBI GWAS Catalog
    The Contribution of Common Genetic Variation to Nicotine and Cotinine Glucuronidation in Multiple Ethnic/Racial Populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in double-strand break repair via homologous recombination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA export from nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteasome assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of integrator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of proteasome complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of proteasome complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of proteasome regulatory particle, lid subcomplex IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    26S proteasome complex subunit SEM1
    Names
    26S proteasome complex subunit DSS1
    SEM1 26S proteasome complex subunit
    deleted in split hand/split foot protein 1
    deleted in split-hand/split-foot 1
    split hand/foot deleted protein 1
    split hand/foot malformation (ectrodactyly) type 1
    split hand/foot malformation type 1 protein

    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.

    Genomic

    1. NG_009273.2 RefSeqGene

      Range
      5046..26130
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001393898.1 → NP_001380827.1  26S proteasome complex subunit SEM1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) encodes the longest isoform (a). Variants 9 and 10 both encode the same isoform (a).
      Source sequence(s)
      AC073230
      Consensus CDS
      CCDS94148.1
      UniProtKB/TrEMBL
      A0A096LP28
      Conserved Domains (1) summary
      cd13768
      Location:23 → 57
      DSS1_Sem1; proteasome complex subunit DSS1/Sem1

    2. NM_001393899.1 → NP_001380828.1  26S proteasome complex subunit SEM1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) encodes the longest isoform (a). Variants 9 and 10 both encode the same isoform (a).
      Source sequence(s)
      AC073230
      Consensus CDS
      CCDS94148.1
      UniProtKB/TrEMBL
      A0A096LP28
      Related
      ENSP00000485353.1, ENST00000623693.3
      Conserved Domains (1) summary
      cd13768
      Location:23 → 57
      DSS1_Sem1; proteasome complex subunit DSS1/Sem1

    3. NM_001393900.1 → NP_001380829.1  26S proteasome complex subunit SEM1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC073230
      Consensus CDS
      CCDS94150.1
      UniProtKB/TrEMBL
      F2Z309
      Related
      ENSP00000409481.1, ENST00000413065.5
      Conserved Domains (1) summary
      cd13768
      Location:23 → 58
      DSS1_Sem1; proteasome complex subunit DSS1/Sem1

    4. NM_001393901.1 → NP_001380830.1  26S proteasome complex subunit SEM1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC073230
      Consensus CDS
      CCDS94147.1
      UniProtKB/TrEMBL
      A0A087WYU0, A0A087X261
      Related
      ENSP00000482085.1, ENST00000613919.4
      Conserved Domains (1) summary
      cl04961
      Location:23 → 57
      DSS1_Sem1; proteasome complex subunit DSS1/Sem1

    5. NM_001393902.1 → NP_001380831.1  26S proteasome complex subunit SEM1 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC073230
      Consensus CDS
      CCDS94146.1
      UniProtKB/TrEMBL
      A0A087X261, F2Z2N6
      Related
      ENSP00000416322.1, ENST00000417009.5
      Conserved Domains (1) summary
      pfam05160
      Location:23 → 58
      DSS1_SEM1; DSS1/SEM1 family

    6. NM_001393903.1 → NP_001380832.1  26S proteasome complex subunit SEM1 isoform f

      Status: REVIEWED

      Source sequence(s)
      AC073230
      Consensus CDS
      CCDS94149.1
      UniProtKB/TrEMBL
      A0A087X261, A0A096LP17
      Related
      ENSP00000485341.1, ENST00000623498.3
      Conserved Domains (1) summary
      pfam05160
      Location:23 → 57
      DSS1_SEM1; DSS1/SEM1 family

    7. NM_001393904.1 → NP_001380833.1  26S proteasome complex subunit SEM1 isoform g

      Status: REVIEWED

      Source sequence(s)
      AC073230

    8. NM_001393905.1 → NP_001380834.1  26S proteasome complex subunit SEM1 isoform h

      Status: REVIEWED

      Source sequence(s)
      AC073230

    9. NM_001393906.1 → NP_001380835.1  26S proteasome complex subunit SEM1 isoform i

      Status: REVIEWED

      Source sequence(s)
      AC073230
      UniProtKB/TrEMBL
      A0A087WUG5

    10. NM_006304.2 → NP_006295.1  26S proteasome complex subunit SEM1 isoform c

      See identical proteins and their annotated locations for NP_006295.1

      Status: REVIEWED

      Source sequence(s)
      AC073230, U41515
      Consensus CDS
      CCDS5646.1
      UniProtKB/Swiss-Prot
      P60896, Q13437, Q61067
      UniProtKB/TrEMBL
      A0A087X261, Q6IBB7
      Related
      ENSP00000248566.2, ENST00000248566.4
      Conserved Domains (1) summary
      pfam05160
      Location:23 → 62
      DSS1_SEM1; DSS1/SEM1 family

    RNA

    1. NR_038948.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC073230, AK310300, BM663367
      Related
      ENST00000606019.5

    2. NR_163948.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092031
      Related
      ENST00000493858.5

    3. NR_163949.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092031
      Related
      ENST00000615352.4

    4. NR_163950.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC073230, AC092031

    5. NR_163951.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC073230, AC092031

    6. NR_163952.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC073230, AC092031

    7. NR_163953.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC073230, AC092031

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      96481626..96709846 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007060160.1 RNA Sequence

    2. XR_007060161.1 RNA Sequence

    3. XR_007060159.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      97717281..97945489 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359020.1 → XP_054214995.1  26S proteasome complex subunit SEM1 isoform X1

      UniProtKB/TrEMBL
      F2Z309

    RNA

    1. XR_008487758.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001201450.1: Suppressed sequence

      Description
      NM_001201450.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.

    2. NM_001201451.1: Suppressed sequence

      Description
      NM_001201451.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.

    3. NM_001349698.2: Suppressed sequence

      Description
      NM_001349698.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.

    4. NM_001349700.2: Suppressed sequence

      Description
      NM_001349700.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.

    5. NM_001349701.2: Suppressed sequence

      Description
      NM_001349701.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.

    6. NM_001349702.2: Suppressed sequence

      Description
      NM_001349702.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.

    7. NM_207503.1: Suppressed sequence

      Description
      NM_207503.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P60896.1 GenPept UniProtKB/Swiss-Prot:P60896

    Gene LinkOut

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