DDI1 (DDI proteasomal shuttling factor 1)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 414301
• Gene name: DDI proteasomal shuttling factor 1
• Gene symbol: DDI1
• Synonyms (NCBI Gene): -
• Chromosome: 11
• Chromosome location: 11q22.3

miRNA Show/Hide all (53)

miRTarBase ID	miRNA	Experiments	Reference
MIRT929200	hsa-miR-1270	CLIP-seq
MIRT929201	hsa-miR-143	CLIP-seq
MIRT929202	hsa-miR-150	CLIP-seq
MIRT929203	hsa-miR-186	CLIP-seq
MIRT929204	hsa-miR-199a-3p	CLIP-seq
MIRT929205	hsa-miR-199b-3p	CLIP-seq
MIRT929206	hsa-miR-3129-5p	CLIP-seq
MIRT929207	hsa-miR-3189-3p	CLIP-seq
MIRT929208	hsa-miR-326	CLIP-seq
MIRT929209	hsa-miR-330-5p	CLIP-seq
MIRT929210	hsa-miR-362-5p	CLIP-seq
MIRT929211	hsa-miR-378	CLIP-seq
MIRT929212	hsa-miR-378b	CLIP-seq
MIRT929213	hsa-miR-378c	CLIP-seq
MIRT929214	hsa-miR-378d	CLIP-seq
MIRT929215	hsa-miR-378e	CLIP-seq
MIRT929216	hsa-miR-378f	CLIP-seq
MIRT929217	hsa-miR-378h	CLIP-seq
MIRT929218	hsa-miR-378i	CLIP-seq
MIRT929219	hsa-miR-422a	CLIP-seq
MIRT929220	hsa-miR-4264	CLIP-seq
MIRT929221	hsa-miR-4311	CLIP-seq
MIRT929222	hsa-miR-432	CLIP-seq
MIRT929223	hsa-miR-4436b-5p	CLIP-seq
MIRT929224	hsa-miR-4531	CLIP-seq
MIRT929225	hsa-miR-4638-3p	CLIP-seq
MIRT929226	hsa-miR-4683	CLIP-seq
MIRT929227	hsa-miR-4694-3p	CLIP-seq
MIRT929228	hsa-miR-4768-5p	CLIP-seq
MIRT929229	hsa-miR-4770	CLIP-seq
MIRT929230	hsa-miR-4797-3p	CLIP-seq
MIRT929231	hsa-miR-500b	CLIP-seq
MIRT929232	hsa-miR-577	CLIP-seq
MIRT929233	hsa-miR-605	CLIP-seq
MIRT929234	hsa-miR-620	CLIP-seq
MIRT929235	hsa-miR-7	CLIP-seq
MIRT929236	hsa-miR-936	CLIP-seq
MIRT929237	hsa-miR-944	CLIP-seq
MIRT1975160	hsa-miR-331-3p	CLIP-seq
MIRT1975161	hsa-miR-3671	CLIP-seq
MIRT1975162	hsa-miR-3679-3p	CLIP-seq
MIRT1975163	hsa-miR-4502	CLIP-seq
MIRT1975164	hsa-miR-494	CLIP-seq
MIRT2514507	hsa-miR-3647-3p	CLIP-seq
MIRT2514508	hsa-miR-3945	CLIP-seq
MIRT2514509	hsa-miR-4253	CLIP-seq
MIRT929228	hsa-miR-4768-5p	CLIP-seq
MIRT2514510	hsa-miR-649	CLIP-seq
MIRT2514507	hsa-miR-3647-3p	CLIP-seq
MIRT2514508	hsa-miR-3945	CLIP-seq
MIRT2514509	hsa-miR-4253	CLIP-seq
MIRT929228	hsa-miR-4768-5p	CLIP-seq
MIRT2514510	hsa-miR-649	CLIP-seq

Gene ontology (GO) Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004190	Function	Aspartic-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IMP	29290612
GO:0016787	Function	Hydrolase activity	IEA
GO:0031647	Process	Regulation of protein stability	IEA
GO:0031647	Process	Regulation of protein stability	IMP	29290612
GO:0072711	Process	Cellular response to hydroxyurea	IEA
GO:0072711	Process	Cellular response to hydroxyurea	IMP	29290612
GO:0097752	Process	Regulation of DNA stability	IEA
GO:0097752	Process	Regulation of DNA stability	IMP	29290612

Other IDs

• MIM: 620870
• HGNC: 18961
• e!Ensembl: ENSG00000170967

Protein

• UniProt ID: Q8WTU0
• Protein name: Protein DDI1 homolog 1 (EC 3.4.23.-)
• Protein function: Probable aspartic protease (Probable). Seems to act as a proteasomal shuttle which links the proteasome and replication fork proteins like RTF2 (Probable). Required, with DDI2, for cellular survival following replication stress. Together or redu
• PDB: 3S8I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00240	ubiquitin	3 → 79	Ubiquitin family	Domain
  PF09668	Asp_protease	220 → 343	Aspartyl protease	Family

• Sequence:

  MLITVYCVRRDLSEVTFSLQVSPDFELRNFKVLCEAESRVPVEEIQIIHMERLLIEDHCS
  LGSYGLKDGDIVVLLQKDNVGPRAPGRAPNQPRVDFSGIAVPGTSSSRPQHPGQQQQRTP
  AAQRSQGLASGEKVAGLQGLGSPALIRSMLLSNPHDLSLLKERNPPLAEALLSGSLETFS
  QVLMEQQREKALREQERLRLYTADPLDREAQAKIEEEIRQQNIEENMNIAIEEAPESFGQ
  VTMLYINCKVNGHPLKAFVDSGAQMTIMSQACAERCNIMRLVDRRWAGVAKGVGTQRIIG
  RVHLAQIQIEGDFLQCSFSILEDQPMDMLLGLDMLRRHQCSIDLKKNVLVIGTTGTQTYF
  LPEGELPLCSRMVSGQDESSDKEITHSVMDSGRKEH

• Sequence length: 396

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Premature ovarian insufficiency	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Angelman Syndrome	Angelman Syndrome	BEFREE	29788202		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	31130875		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40383808	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for DDI1.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to DDI1.