ECPAS (Ecm29 proteasome adaptor and scaffold)

Gene

• Entrez ID: 23392
• Gene name: Ecm29 proteasome adaptor and scaffold
• Gene symbol: ECPAS
• Synonyms (NCBI Gene): ECM29, KIAA0368
• Chromosome: 9
• Chromosome location: 9q31.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15496406
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	15496406
GO:0005770	Component	Late endosome	IDA	15496406
GO:0005771	Component	Multivesicular body	IDA	20682791
GO:0005771	Component	Multivesicular body	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	15496406
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005802	Component	Trans-Golgi network	IDA	15496406
GO:0005813	Component	Centrosome	IDA	15496406
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IDA	15496406
GO:0030139	Component	Endocytic vesicle	IDA	20682791
GO:0031410	Component	Cytoplasmic vesicle	IDA	15496406
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0036503	Process	ERAD pathway	IBA
GO:0036503	Process	ERAD pathway	IMP	15496406
GO:0043248	Process	Proteasome assembly	IEA
GO:0060090	Function	Molecular adaptor activity	IBA
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0070628	Function	Proteasome binding	IDA	15496406

Other IDs

• MIM: 616694
• HGNC: 29020
• e!Ensembl: ENSG00000136813

Protein

• UniProt ID: Q5VYK3
• Protein name: Proteasome adapter and scaffold protein ECM29 (Ecm29 proteasome adapter and scaffold) (Proteasome-associated protein ECM29 homolog)
• Protein function: Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role i
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13001	Ecm29	16 → 522		Family

• Sequence:

  MAAAAASASQDELNQLERVFLRLGHAETDEQLQNIISKFLPPVLLKLSSTQEGVRKKVME
  LLVHLNKRIKSRPKIQLPVETLLVQYQDPAAVSFVTNFTIIYVKMGYPRLPVEKQCELAP
  TLLTAMEGKPQPQQDSLMHLLIPTLFHMKYPVESSKSASPFNLAEKPKTVQLLLDFMLDV
  LLMPYGYVLNESQSRQNSSSAQGSSSNSGGGSGIPQPPPGMSFYAAKRVIGDNPWTPEQL
  EQCKLGIVKFIEAEQVPELEAVLHLVIASSDTRHSVATAADLELKSKQSLIDWNNPAIIN
  KMYKVYLGDIPLKTKEGAVLKPELKRDPVSTRVKLKIVPHLLRSRQAAETFPANIQVVYD
  GLFGTNTNSKLRTLSLQFVHHICITCPEIKIKPLGPMLLNGLTKLINEYKEDPKLLSMAY
  SAVGKLSSRMPHLFTKDIALVQQLFEALCKEEPETRLAIQEALSMMVGAYSTLEGAQRTL
  MEALVASYLIKPEVQVRQVAVKFASTVFPSDHIPSRYLLLLAAGDPREEVHGEAQRVLRC
  LPGRNRKESTSEQMPSFPEMVYYIQEKASHRMKTPVKYMTGTTVLPFNPAAFGEIVLYLR
  MCLAHSAGVVPTSQSLADMQDHAPAIGRYIRTLMSSGQMAPSSSNKSGETNPVQIYIGLL
  QQLLAGVGGLPVMYCLLEAVSVYPEKLATKFVDKTEWIKSLMNNSKEEMRELAALFYSVV
  VSTVSGNELKSMIEQLIKTTKDNHSPEIQHGSLLALGFTVGRYLAKKKMRMSEQQDLERN
  ADTLPDQEELIQSATETIGSFLDSTSPLLAIAACTALGEIGRNGPLPIPSEGSGFTKLHL
  VESLLSRIPSSKETNKMKERAIQTLGYFPVGDGDFPHQKLLLQGLMDSVEAKQIELQFTI
  GEAITSAAIGTSSVAARDAWQMTEEEYTPPAGAKVNDVVPWVLDVILNKHIISPNPHVRQ
  AACIWLLSLVRKLSTHKEVKSHLKEIQSAFVSVLSENDELSQDVASKGLGLVYELGNEQD
  QQELVSTLVETLMTGKRVKHEVSGETVVFQGGALGKTPDGQGLSTYKELCSLASDLSQPD
  LVYKFMNLANHHAMWNSRKGAAFGFNVIATRAGEQLAPFLPQLVPRLYRYQFDPNLGIRQ
  AMTSIWNALVTDKSMVDKYLKEILQDLVKNLTSNMWRVRESSCLALNDLLRGRPLDDIID
  KLPEIWETLFRVQDDIKESVRKAAELALKTLSKVCVKMCDPAKGAAGQRTIAALLPCLLD
  KGMMSTVTEVRALSINTLVKISKSAGAMLKPHAPKLIPALLESLSVLEPQVLNYLSLRAT
  EQEKAAMDSARLSAAKSSPMMETINMCLQYLDVSVLGELVPRLCELIRSGVGLGTKGGCA
  SVIVSLTTQCPQDLTPYSGKLMSALLSGLTDRNSVIQKSCAFAMGHLVRTSRDSSTEKLL
  QKLNGWYMEKEEPIYKTSCALTIHAIGRYSPDVLKNHAKEVLPLAFLGMHEIADEEKSEK
  EECNLWTEVWQENVPGSFGGIRLYLQELITITQKALQSQSWKMKAQGAIAMASIAKQTSS
  LVPPYLGMILTALLQGLAGRTWAGKEELLKAIACVVTACSAELEKSVPNQPSTNEILQAV
  LKECSKENVKYKIVAISCAADILKATKEDRFQEFSNIVIPLIKKNSLESSGVRTTKNEEE
  NEKEKELQLEYLLGAFESLGKAWPRNAETQRCYRQELCKLMCERLKLSTWKVQLGVLQSM
  NAFFQGLMLLEEEHADPEALAEILLETCKSITYSLENKTYSSVRTEALSVIELLLKKLEE
  SKQWECLTSECRVLLIESLATMEPDSRPELQEKAALLKKTLENLE

• Sequence length: 1845

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	Evidence Score
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular endothelial growth factor (VEGF) inhibitor response	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alzheimer Disease	Associate	34697589	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	29669860, 29867227	★☆☆☆☆ Found in Text Mining only
Epilepsy	Associate	34697589	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	29867227	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	26325107	★☆☆☆☆ Found in Text Mining only