RBCC Red Blood Cell Collection

ASPC1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: ASPSCR1 , ASPL, RCC17, TUG, UBXD9, UBXN9
Protein names and data: ASPC1_HUMAN , Tether containing UBX domain for GLUT4 , Alveolar soft part sarcoma chromosomal region candidate gene 1 protein; Alveolar soft part sarcoma locus; Renal papillary cell carcinoma protein 17; UBX domain-containing protein 9 Lenght: 553 a.a.
Mass: 60183 Da
fasta formatted sequence
Function: Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT.
Disease: ( OMIM: 606236 ) Note=A chromosomal aberration involving ASPSCR1 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein. Note=A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal cell carcinoma. Translocation t(X;17)(p11.2;q25).
Cellular location: Endomembrane system; Peripheral membrane protein (By similarity). Cytoplasm. Nucleus.
Tissue specificity: Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas.

Genetic variants

252 - 252 L -> Q (in dbSNP:rs8074498). VAR_027503 8074498
318 - 318 V -> M (in dbSNP:rs34085048). VAR_034745 34085048
487 - 487 D -> E (in dbSNP:rs13087). VAR_027504 13087

Database cross-references

UniProt: Q9BZE9
Ensembl: ENST00000306729
Ensembl: ENST00000306739
Ensembl: ENST00000580534
MIM: 606236
neXtProt: NX_Q9BZE9
Antibodypedia: Q9BZE9 (may not find the protein thus also not any antibody)
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