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Protein

26S proteasome complex subunit DSS1

Gene

SHFM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Subunit of the 26S proteasome which plays a role in ubiquitin-dependent proteolysis (PubMed:15117943). Component of the TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, DSS1, 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 DSS1-depleted cells.3 Publications

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000127922-MONOMER.
ReactomeiR-HSA-1169091. Activation of NF-kappaB in B cells.
R-HSA-1234176. Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha.
R-HSA-1236974. ER-Phagosome pathway.
R-HSA-1236978. Cross-presentation of soluble exogenous antigens (endosomes).
R-HSA-174084. Autodegradation of Cdh1 by Cdh1:APC/C.
R-HSA-174113. SCF-beta-TrCP mediated degradation of Emi1.
R-HSA-174154. APC/C:Cdc20 mediated degradation of Securin.
R-HSA-174178. APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1.
R-HSA-174184. Cdc20:Phospho-APC/C mediated degradation of Cyclin A.
R-HSA-180534. Vpu mediated degradation of CD4.
R-HSA-180585. Vif-mediated degradation of APOBEC3G.
R-HSA-187577. SCF(Skp2)-mediated degradation of p27/p21.
R-HSA-195253. Degradation of beta-catenin by the destruction complex.
R-HSA-202424. Downstream TCR signaling.
R-HSA-211733. Regulation of activated PAK-2p34 by proteasome mediated degradation.
R-HSA-2467813. Separation of Sister Chromatids.
R-HSA-2871837. FCERI mediated NF-kB activation.
R-HSA-349425. Autodegradation of the E3 ubiquitin ligase COP1.
R-HSA-350562. Regulation of ornithine decarboxylase (ODC).
R-HSA-382556. ABC-family proteins mediated transport.
R-HSA-450408. AUF1 (hnRNP D0) binds and destabilizes mRNA.
R-HSA-4608870. Asymmetric localization of PCP proteins.
R-HSA-4641257. Degradation of AXIN.
R-HSA-4641258. Degradation of DVL.
R-HSA-5358346. Hedgehog ligand biogenesis.
R-HSA-5362768. Hh mutants that don't undergo autocatalytic processing are degraded by ERAD.
R-HSA-5607761. Dectin-1 mediated noncanonical NF-kB signaling.
R-HSA-5607764. CLEC7A (Dectin-1) signaling.
R-HSA-5610780. Degradation of GLI1 by the proteasome.
R-HSA-5610783. Degradation of GLI2 by the proteasome.
R-HSA-5610785. GLI3 is processed to GLI3R by the proteasome.
R-HSA-5632684. Hedgehog 'on' state.
R-HSA-5658442. Regulation of RAS by GAPs.
R-HSA-5668541. TNFR2 non-canonical NF-kB pathway.
R-HSA-5676590. NIK-->noncanonical NF-kB signaling.
R-HSA-5678895. Defective CFTR causes cystic fibrosis.
R-HSA-5687128. MAPK6/MAPK4 signaling.
R-HSA-5689603. UCH proteinases.
R-HSA-5689880. Ub-specific processing proteases.
R-HSA-68827. CDT1 association with the CDC6:ORC:origin complex.
R-HSA-68949. Orc1 removal from chromatin.
R-HSA-69017. CDK-mediated phosphorylation and removal of Cdc6.
R-HSA-69229. Ubiquitin-dependent degradation of Cyclin D1.
R-HSA-69481. G2/M Checkpoints.
R-HSA-69601. Ubiquitin Mediated Degradation of Phosphorylated Cdc25A.
R-HSA-8852276. The role of GTSE1 in G2/M progression after G2 checkpoint.
R-HSA-8854050. FBXL7 down-regulates AURKA during mitotic entry and in early mitosis.
R-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.

Names & Taxonomyi

Protein namesi
Recommended name:
26S proteasome complex subunit DSS1
Alternative name(s):
Deleted in split hand/split foot protein 1
Split hand/foot deleted protein 1
Split hand/foot malformation type 1 protein
Gene namesi
Name:SHFM1
Synonyms:DSS1, SHFDG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:10845. SHFM1.

Subcellular locationi

GO - Cellular componenti

  • proteasome complex Source: UniProtKB
  • proteasome regulatory particle, lid subcomplex Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Proteasome

Pathology & Biotechi

Organism-specific databases

DisGeNETi7979.
MalaCardsiSHFM1.
OpenTargetsiENSG00000127922.
Orphaneti2440. Split hand-split foot malformation.
PharmGKBiPA35749.

Polymorphism and mutation databases

BioMutaiSHFM1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001229611 – 7026S proteasome complex subunit DSS1Add BLAST70

Proteomic databases

PaxDbiP60896.
PeptideAtlasiP60896.
PRIDEiP60896.
TopDownProteomicsiP60896.

PTM databases

iPTMnetiP60896.
PhosphoSitePlusiP60896.

Expressioni

Tissue specificityi

Expressed in limb bud, craniofacial primordia and skin.

Gene expression databases

BgeeiENSG00000127922.
CleanExiHS_SHFM1.
ExpressionAtlasiP60896. baseline and differential.
GenevisibleiP60896. HS.

Interactioni

Subunit structurei

Part of the 26S proteasome. Belongs to the TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, DSS1, and either centrin CETN2 or CETN3 (PubMed:22307388). Interacts with the C-terminal of BRCA2 (PubMed:21719596).4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
BRCA2P515878EBI-79819,EBI-79792
PSMD3O432423EBI-79819,EBI-357622

Protein-protein interaction databases

BioGridi113692. 136 interactors.
DIPiDIP-31023N.
IntActiP60896. 72 interactors.
MINTiMINT-3022106.
STRINGi9606.ENSP00000248566.

Structurei

Secondary structure

170
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi10 – 12Combined sources3
Beta strandi21 – 23Combined sources3
Helixi42 – 44Combined sources3
Helixi51 – 62Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1IYJX-ray3.40A/C1-70[»]
1MIUX-ray3.10B1-70[»]
1MJEX-ray3.50B1-70[»]
3T5XX-ray2.12B1-70[»]
5GJQelectron microscopy4.50Y1-70[»]
5GJRelectron microscopy3.50AB/Y1-70[»]
5L4Kelectron microscopy4.50Y1-70[»]
5T0Celectron microscopy3.80Ae/Be1-70[»]
5T0Gelectron microscopy4.40e1-70[»]
5T0Helectron microscopy6.80e1-70[»]
5T0Ielectron microscopy8.00e1-70[»]
5T0Jelectron microscopy8.00e1-70[»]
DisProtiDP00617.
ProteinModelPortaliP60896.
SMRiP60896.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP60896.

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi14 – 21Asp/Glu-rich (highly acidic)8
Compositional biasi31 – 35Asp/Glu-rich (highly acidic)5
Compositional biasi40 – 51Asp/Glu-rich (highly acidic)Add BLAST12

Sequence similaritiesi

Belongs to the DSS1/SEM1 family.Curated

Phylogenomic databases

eggNOGiKOG4764. Eukaryota.
ENOG41126I3. LUCA.
GeneTreeiENSGT00390000002695.
HOVERGENiHBG005536.
InParanoidiP60896.
KOiK10881.
OMAiINEEWKE.
PhylomeDBiP60896.
TreeFamiTF314699.

Family and domain databases

InterProiIPR007834. DSS1_SEM1.
[Graphical view]
PfamiPF05160. DSS1_SEM1. 1 hit.
[Graphical view]
SMARTiSM01385. DSS1_SEM1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P60896-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSEKKQPVDL GLLEEDDEFE EFPAEDWAGL DEDEDAHVWE DNWDDDNVED
60 70
DFSNQLRAEL EKHGYKMETS
Length:70
Mass (Da):8,278
Last modified:April 13, 2004 - v1
Checksum:i0E0F58D2F3D9F723
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01200317D → G.Corresponds to variant rs1802882dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U41515 mRNA. Translation: AAA91179.1.
AC073230 Genomic DNA. Translation: AAQ93368.1.
BC032782 mRNA. Translation: AAH32782.1.
CCDSiCCDS5646.1.
PIRiG02284.
RefSeqiNP_006295.1. NM_006304.1.
UniGeneiHs.489201.

Genome annotation databases

EnsembliENST00000248566; ENSP00000248566; ENSG00000127922.
GeneIDi7979.
KEGGihsa:7979.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U41515 mRNA. Translation: AAA91179.1.
AC073230 Genomic DNA. Translation: AAQ93368.1.
BC032782 mRNA. Translation: AAH32782.1.
CCDSiCCDS5646.1.
PIRiG02284.
RefSeqiNP_006295.1. NM_006304.1.
UniGeneiHs.489201.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1IYJX-ray3.40A/C1-70[»]
1MIUX-ray3.10B1-70[»]
1MJEX-ray3.50B1-70[»]
3T5XX-ray2.12B1-70[»]
5GJQelectron microscopy4.50Y1-70[»]
5GJRelectron microscopy3.50AB/Y1-70[»]
5L4Kelectron microscopy4.50Y1-70[»]
5T0Celectron microscopy3.80Ae/Be1-70[»]
5T0Gelectron microscopy4.40e1-70[»]
5T0Helectron microscopy6.80e1-70[»]
5T0Ielectron microscopy8.00e1-70[»]
5T0Jelectron microscopy8.00e1-70[»]
DisProtiDP00617.
ProteinModelPortaliP60896.
SMRiP60896.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113692. 136 interactors.
DIPiDIP-31023N.
IntActiP60896. 72 interactors.
MINTiMINT-3022106.
STRINGi9606.ENSP00000248566.

PTM databases

iPTMnetiP60896.
PhosphoSitePlusiP60896.

Polymorphism and mutation databases

BioMutaiSHFM1.

Proteomic databases

PaxDbiP60896.
PeptideAtlasiP60896.
PRIDEiP60896.
TopDownProteomicsiP60896.

Protocols and materials databases

DNASUi7979.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000248566; ENSP00000248566; ENSG00000127922.
GeneIDi7979.
KEGGihsa:7979.

Organism-specific databases

CTDi7979.
DisGeNETi7979.
GeneCardsiSHFM1.
HGNCiHGNC:10845. SHFM1.
MalaCardsiSHFM1.
MIMi601285. gene.
neXtProtiNX_P60896.
OpenTargetsiENSG00000127922.
Orphaneti2440. Split hand-split foot malformation.
PharmGKBiPA35749.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4764. Eukaryota.
ENOG41126I3. LUCA.
GeneTreeiENSGT00390000002695.
HOVERGENiHBG005536.
InParanoidiP60896.
KOiK10881.
OMAiINEEWKE.
PhylomeDBiP60896.
TreeFamiTF314699.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000127922-MONOMER.
ReactomeiR-HSA-1169091. Activation of NF-kappaB in B cells.
R-HSA-1234176. Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha.
R-HSA-1236974. ER-Phagosome pathway.
R-HSA-1236978. Cross-presentation of soluble exogenous antigens (endosomes).
R-HSA-174084. Autodegradation of Cdh1 by Cdh1:APC/C.
R-HSA-174113. SCF-beta-TrCP mediated degradation of Emi1.
R-HSA-174154. APC/C:Cdc20 mediated degradation of Securin.
R-HSA-174178. APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1.
R-HSA-174184. Cdc20:Phospho-APC/C mediated degradation of Cyclin A.
R-HSA-180534. Vpu mediated degradation of CD4.
R-HSA-180585. Vif-mediated degradation of APOBEC3G.
R-HSA-187577. SCF(Skp2)-mediated degradation of p27/p21.
R-HSA-195253. Degradation of beta-catenin by the destruction complex.
R-HSA-202424. Downstream TCR signaling.
R-HSA-211733. Regulation of activated PAK-2p34 by proteasome mediated degradation.
R-HSA-2467813. Separation of Sister Chromatids.
R-HSA-2871837. FCERI mediated NF-kB activation.
R-HSA-349425. Autodegradation of the E3 ubiquitin ligase COP1.
R-HSA-350562. Regulation of ornithine decarboxylase (ODC).
R-HSA-382556. ABC-family proteins mediated transport.
R-HSA-450408. AUF1 (hnRNP D0) binds and destabilizes mRNA.
R-HSA-4608870. Asymmetric localization of PCP proteins.
R-HSA-4641257. Degradation of AXIN.
R-HSA-4641258. Degradation of DVL.
R-HSA-5358346. Hedgehog ligand biogenesis.
R-HSA-5362768. Hh mutants that don't undergo autocatalytic processing are degraded by ERAD.
R-HSA-5607761. Dectin-1 mediated noncanonical NF-kB signaling.
R-HSA-5607764. CLEC7A (Dectin-1) signaling.
R-HSA-5610780. Degradation of GLI1 by the proteasome.
R-HSA-5610783. Degradation of GLI2 by the proteasome.
R-HSA-5610785. GLI3 is processed to GLI3R by the proteasome.
R-HSA-5632684. Hedgehog 'on' state.
R-HSA-5658442. Regulation of RAS by GAPs.
R-HSA-5668541. TNFR2 non-canonical NF-kB pathway.
R-HSA-5676590. NIK-->noncanonical NF-kB signaling.
R-HSA-5678895. Defective CFTR causes cystic fibrosis.
R-HSA-5687128. MAPK6/MAPK4 signaling.
R-HSA-5689603. UCH proteinases.
R-HSA-5689880. Ub-specific processing proteases.
R-HSA-68827. CDT1 association with the CDC6:ORC:origin complex.
R-HSA-68949. Orc1 removal from chromatin.
R-HSA-69017. CDK-mediated phosphorylation and removal of Cdc6.
R-HSA-69229. Ubiquitin-dependent degradation of Cyclin D1.
R-HSA-69481. G2/M Checkpoints.
R-HSA-69601. Ubiquitin Mediated Degradation of Phosphorylated Cdc25A.
R-HSA-8852276. The role of GTSE1 in G2/M progression after G2 checkpoint.
R-HSA-8854050. FBXL7 down-regulates AURKA during mitotic entry and in early mitosis.
R-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.

Miscellaneous databases

ChiTaRSiSHFM1. human.
EvolutionaryTraceiP60896.
GeneWikiiSHFM1.
GenomeRNAii7979.
PROiP60896.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000127922.
CleanExiHS_SHFM1.
ExpressionAtlasiP60896. baseline and differential.
GenevisibleiP60896. HS.

Family and domain databases

InterProiIPR007834. DSS1_SEM1.
[Graphical view]
PfamiPF05160. DSS1_SEM1. 1 hit.
[Graphical view]
SMARTiSM01385. DSS1_SEM1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDSS1_HUMAN
AccessioniPrimary (citable) accession number: P60896
Secondary accession number(s): Q13437, Q61067
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: November 30, 2016
This is version 123 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.