Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

UBAP1

contributors: mct - updated : 15-05-2019

HGNC name	ubiquitin associated protein 1
HGNC id	12461

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016525 7 - 2743 NP_057609 55 502 - 2011 21757351 NM_001171204 8 - 2866 NP_001164675 - 502 - 2011 21757351 NM_001171203 8 - 2898 NP_001164674 - 502 - 2011 21757351 NM_001171202 6 - 2618 NP_001164673 - 538 - 2011 21757351 NM_001171201 6 - 2702 NP_001164672 - 566 - 2011 21757351

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen       highly Cardiovascular heart       highly Endocrine pancreas       highly Nervous brain diencephalon hypothalamus     Reproductive male system testis

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   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 (17–63 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 (389–498 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 complex

INTERACTION

DNA

RNA

small molecule

protein	UBAP1 is important for MVB12A, MVB12B sorting and degradation of ubiquitylated endosomal cargoes, including EGFR, but not for cytokinesis or retroviral budding
	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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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