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FLASH GENE
Symbol UBAP1 contributors: mct - updated : 15-05-2019
HGNC name ubiquitin associated protein 1
HGNC id 12461
Corresponding disease
SPG80 spastic paraplegia 80
Location 9p13.3      Physical location : 34.179.002 - 34.252.520
Synonym name nasopharyngeal carcinoma-associated gene 20 protein
Synonym symbol(s) UAP, NAG20, UBAP, MGC119669, MGC8710, NAG20, SPG80, UBAP-1
DNA
TYPE functioning gene
STRUCTURE 73.52 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
TRBV25OR9-2 9p21 T cell receptor beta variable 25/OR9-2 PTENP1 9p21 phosphatase and tensin homolog (mutated in multiple advanced cancers 1), pseudogene 1 TRBVAOR9-2 9p21 T cell receptor beta variable A/OR9-2 TRBV26OR9-2 9p21 T cell receptor beta variable 26/OR9-2 TRBV29OR9-2 9p21 T cell receptor beta variable 29/OR9-2 PRSS3 7q35 protease, serine, 3 (mesotrypsin) UBE2R2 9p11.2 ubiquitin-conjugating enzyme E2R 2 UBAP2 9p13.2 ubiquitin associated protein 2 KIAA1892 9p11.2 KIAA1892 LOC340499 9p13.2 similar to inosine monophosphate dehydrogenase 1 isoform b; sWSS2608 UBAP1 9p22-p21 ubiquitin associated protein 1 C9orf48 9p13.2 chromosome 9 open reading frame 48 KIF24 9p13.2 kinesin family member 24 NUDT2 9p13 nudix (nucleoside diphosphate linked moiety X)-type motif 2 KIAA1161 9p11.2 KIAA1161 C9orf24 9p11.2 chromosome 9 open reading frame 24 C9orf25 9p11.2 chromosome 9 open reading frame 25 DNAI1 9p13.3 dynein, axonemal, intermediate polypeptide 1 UNQ470 9p13.2 GAAI470 CNTFR 9p21-p13 ciliary neurotrophic factor receptor
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 2743 55 502 - 2011 21757351
8 - 2866 - 502 - 2011 21757351
8 - 2898 - 502 - 2011 21757351
6 - 2618 - 538 - 2011 21757351
6 - 2702 - 566 - 2011 21757351
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen   highly
Cardiovascularheart   highly
Endocrinepancreas   highly
Nervousbraindiencephalonhypothalamus  
Reproductivemale systemtestis   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Lymphoid    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • UMA (UBAP1-MVB12-associated) domain in the N-terminal region (1763 aa) which mediates the association with the ESCRT-I complex,
  • UBA/THIF type NAD/FAD binding fold
  • a coiled-coil domain
  • two possible N-glycosylation sites
  • five PKC phosphorylation sites
  • seven casein kinase II phosphorylation sites
  • three N-myristoylation sites
  • a SOUBA (solenoid of overlapping ubiquitin-associated domains) domain in the C-terminal region (389498 aa)
  • HOMOLOGY
    Homologene
    FAMILY
  • UBA domain family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • regulator of vesicular trafficking processes, binding to ubiquitinated cargo proteins, and essential for sorting endocytic ubiquitinated cargos into multivesicular bodies
  • UBAP1, a subunit of human ESCRT-I, coassembles in a stable 1:1:1:1 complex with TSG101, VPS28, and VPS37A
  • links endosomal trafficking to the ubiquitination machinery pathways
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • presence of UBAP1, in combination with VPS37A, defines an endosome-specific ESCRT-I comple
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • specific interaction between PTPN23 and the ESCRT-I subunit UBAP1 critical for degradation of growth factor receptors and integrins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG80
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in nasopharyngeal carcinoma
    tumoral fusion      
    UBAP1-TGM7, was unique to clear cell (CC) epithelial ovarian cancer (EOC) tumors
    Susceptibility to Frontotemporal lobar degeneration (FTLD)
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS