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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...

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

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

Polymorphism and mutation databases

BioMutaiSHFM1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 707026S proteasome complex subunit DSS1PRO_0000122961Add
BLAST

Proteomic databases

PaxDbiP60896.
PeptideAtlasiP60896.
PRIDEiP60896.
TopDownProteomicsiP60896.

PTM databases

iPTMnetiP60896.
PhosphoSiteiP60896.

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 interactions.
DIPiDIP-31023N.
IntActiP60896. 71 interactions.
MINTiMINT-3022106.
STRINGi9606.ENSP00000248566.

Structurei

Secondary structure

1
70
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi10 – 123Combined sources
Beta strandi21 – 233Combined sources
Helixi42 – 443Combined sources
Helixi51 – 6212Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1IYJX-ray3.40A/C1-70[»]
1MIUX-ray3.10B1-70[»]
1MJEX-ray3.50B1-70[»]
3T5XX-ray2.12B1-70[»]
DisProtiDP00617.
ProteinModelPortaliP60896.
SMRiP60896. Positions 6-67.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP60896.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi14 – 218Asp/Glu-rich (highly acidic)
Compositional biasi31 – 355Asp/Glu-rich (highly acidic)
Compositional biasi40 – 5112Asp/Glu-rich (highly acidic)Add
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171D → G.
Corresponds to variant rs1802882 [ dbSNP | Ensembl ].
VAR_012003

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
EntryMethodResolution (Å)ChainPositionsPDBsum
1IYJX-ray3.40A/C1-70[»]
1MIUX-ray3.10B1-70[»]
1MJEX-ray3.50B1-70[»]
3T5XX-ray2.12B1-70[»]
DisProtiDP00617.
ProteinModelPortaliP60896.
SMRiP60896. Positions 6-67.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113692. 136 interactions.
DIPiDIP-31023N.
IntActiP60896. 71 interactions.
MINTiMINT-3022106.
STRINGi9606.ENSP00000248566.

PTM databases

iPTMnetiP60896.
PhosphoSiteiP60896.

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

Phylogenomic databases

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

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: September 7, 2016
This is version 120 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.