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

Gene ID: 7979, updated on 2-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
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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 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)

Genotypes

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

Clone Names

  • FLJ17342, FLJ42280, MGC176413, MGC177977

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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