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Alternative titles; symbolsECM29, YEAST, HOMOLOG OF; ECM29KIAA0368HGNC Approved Gene Symbol: ECPASCytogenetic location: 9q31.3 Genomic coordinates (GRCh38): ...

Alternative titles; symbols

  • KIAA0368

HGNC Approved Gene Symbol: ECPAS

Cytogenetic location: 9q31.3 Genomic coordinates (GRCh38): 9:111,360,684-111,484,382 (from NCBI)

▼ Description
KIAA0368 encodes a 200-kD HEAT repeat adaptor protein that binds the 26S proteasome (see 602706) (Gorbea et al., 2010).

▼ Cloning and Expression
By screening for large proteins expressed in brain, Nagase et al. (1997) cloned KIAA0368, which encodes a predicted 1,441-amino acid protein. RT-PCR analysis detected expression in all human tissues examined, with highest levels in ovary and brain, followed by prostate, thymus, testis, skeletal muscle, and kidney.

By database analysis, Gorbea et al. (2004) obtained full-length KIAA0368, which they named ECM29, after its yeast homolog. The predicted 1,839-amino acid protein contains an N-terminal bipartite nuclear targeting signal, at least 23 HEAT motifs throughout its sequence, a central Vps27/HGS (604375)/STAM (601899) (VHS)-like domain, and 2 potential helical regions with homology to beta-adaptin (see 600157) N termini that the authors called HANT domains. Gorbea et al. (2004) also identified 2 additional alternative sequences for the ECM29 N terminus. Western blot analysis detected a 205-kD ECM29 protein in HeLa cells. Ecm29 protein expression was high in mouse testis and brain, low in liver, and almost undetectable in heart and kidney. ECM29 associated with the 26S proteasome in HeLa cells. Immunofluorescence analysis, confocal microscopy, and computational analysis demonstrated that ECM29 localized to centrosomes, nuclei, endoplasmic reticulum (ER), and ER-Golgi intermediate compartments of HeLa cells.

▼ Gene Function
Using genomewide 2-hybrid screens and mass spectrometric analysis, Gorbea et al. (2010) showed that the C terminus of ECM29 bound myosins (see 160730) and kinesins (see 602809), whereas the N terminus bound the endocytic proteins VPS11 (608549), RAB11FIP4 (611999), and rabaptin (RABEP1; 603616). Full-length ECM29, the ECM29 C-terminal half, and a small central region of ECM29, but not the EMC29 N-terminal half, bound 26S proteasomes. Confocal microscopy showed that ECM29-26S proteasomes were present on flotillin (FLOT1; 606998)-positive endosomes, but not clathrin (see 118960)- or caveolin (CAV1; 601047)-decorated endosomes. Gorbea et al. (2010) proposed that ECM29 serves as an adaptor for coupling 26S proteasomes to specific cellular compartments.

Using RNA interference, Gorbea et al. (2013) showed that depletion of ECM29 in human cells led to increased TLR3 (603029)-dependent signaling with increased abundance of TRAF3 (601896), increased nuclear localization of IRF3 (603734), and inhibition of autophagy. They proposed that ECM29-26S proteasomes play a role in mediating autophagy, trafficking of TLR3, and attenuation of TLR3-dependent signaling.

▼ Mapping
By radiation hybrid analysis, Nagase et al. (1997) mapped the KIAA0368 gene to chromosome 9.

Gross (2015) mapped the KIAA0368 gene to chromosome 9q31.3 based on an alignment of the KIAA0368 sequence (GenBank BC021127) with the genomic sequence (GRCh38).

Tags: 9q31.3