Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
7979 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
SEM1 26S proteasome subunit |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SEM1 |
SynonymsGene synonyms aliases
|
C7orf76, DSS1, ECD, PSMD15, SHFD1, SHFM1, SHSF1, Shfdg1 |
ChromosomeChromosome number
|
7 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
7q21.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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] |
miRNAmiRNA information provided by mirtarbase database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P60896 |
Protein name |
26S proteasome complex subunit SEM1 (26S proteasome complex subunit DSS1) (Deleted in split hand/split foot protein 1) (Split hand/foot deleted protein 1) (Split hand/foot malformation type 1 protein) |
Protein function |
Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair (PubMed:15117943). Component of the TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, SEM1, and either centrin CETN2 or CETN3 (PubMed:22307388). The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery. Binds and stabilizes BRCA2 and is thus involved in the control of R-loop-associated DNA damage and thus transcription-associated genomic instability. R-loop accumulation increases in SEM1-depleted cells. |
PDB |
1IYJ
,
1MIU
,
1MJE
,
3T5X
,
5GJQ
,
5GJR
,
5L4K
,
5LN3
,
5M32
,
5T0C
,
5T0G
,
5T0H
,
5T0I
,
5T0J
,
5VFR
,
5VFT
,
5VGZ
,
5VHF
,
5VHH
,
5VHI
,
5VHS
,
6MSB
,
6MSD
,
6MSG
,
6MSH
,
6MSJ
,
6MSK
,
6WJD
,
6WJN
|
UniProt ID |
Q6ZVN7 |
Protein name |
Putative protein SEM1, isoform 2 |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF17697 |
DUF5543 |
1 → 128 |
|
Family |
|
Sequence |
|
Sequence length |
128 |
Interactions |
View interactions |