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

Gene ID: 7979, updated on 1-Jun-2020

Summary

Official Symbol
SEM1provided by HGNC
Official Full Name
SEM1 26S proteasome complex subunitprovided by HGNC
Primary source
HGNC:HGNC:10845
See related
Ensembl:ENSG00000127922 MIM:601285
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; 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

Genomic context

See SEM1 in Genome Data Viewer
Location:
7q21.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (96481626..96709891, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (96318079..96339203, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375410 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 uncharacterized LOC107986825 Neighboring gene eDlx#16 enhancer in SHFM1 region Neighboring gene eDlx#14 enhancer in SHFM1 region Neighboring gene uncharacterized LOC105375414 Neighboring gene eDlx#8 enhancer in SHFM1 region

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17342, FLJ42280, MGC176413, MGC177977

General protein information

Preferred Names
26S proteasome complex subunit SEM1
Names
26S proteasome complex subunit DSS1
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)

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
    5001..26125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006304.1NP_006295.1  26S proteasome complex subunit SEM1

    See identical proteins and their annotated locations for NP_006295.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents the protein-coding transcript.
    Source sequence(s)
    U41515
    Consensus CDS
    CCDS5646.1
    UniProtKB/Swiss-Prot
    P60896
    UniProtKB/TrEMBL
    Q6IBB7
    Related
    ENSP00000248566.2, ENST00000248566.3
    Conserved Domains (1) summary
    pfam05160
    Location:2362
    DSS1_SEM1; DSS1/SEM1 family

RNA

  1. NR_038948.1 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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    96481626..96709891 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446934.1XP_024302702.1  26S proteasome complex subunit SEM1 isoform X1

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.
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