Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51271
Gene name Gene Name - the full gene name approved by the HGNC.	Ubiquitin associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	UBAP1
Synonyms (NCBI Gene) Gene synonyms aliases	NAG20, SPG80, UAP, UBAP, UBAP-1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SPG80
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1563919973	->CCAGA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1563920000	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1563920132	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1563920172	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1563920268	->TGAG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1587878722	->GTGAATTC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1587878961	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1587879449	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant

Show/Hide all(85)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003280	hsa-miR-141-3p	Luciferase reporter assay, Western blot	20053927
MIRT003280	hsa-miR-141-3p	Luciferase reporter assay, Western blot	20053927
MIRT003280	hsa-miR-141-3p	Reporter assay;Western blot;Other	20053927
MIRT1466675	hsa-miR-1266	CLIP-seq
MIRT1466676	hsa-miR-1587	CLIP-seq
MIRT1466677	hsa-miR-1909	CLIP-seq
MIRT1466678	hsa-miR-2278	CLIP-seq
MIRT1466679	hsa-miR-2467-3p	CLIP-seq
MIRT1466680	hsa-miR-3132	CLIP-seq
MIRT1466681	hsa-miR-3135b	CLIP-seq
MIRT1466682	hsa-miR-3169	CLIP-seq
MIRT1466683	hsa-miR-3179	CLIP-seq
MIRT1466684	hsa-miR-3202	CLIP-seq
MIRT1466685	hsa-miR-3652	CLIP-seq
MIRT1466686	hsa-miR-3664-3p	CLIP-seq
MIRT1466687	hsa-miR-3685	CLIP-seq
MIRT1466688	hsa-miR-384	CLIP-seq
MIRT1466689	hsa-miR-4271	CLIP-seq
MIRT1466690	hsa-miR-4283	CLIP-seq
MIRT1466691	hsa-miR-4289	CLIP-seq
MIRT1466692	hsa-miR-4292	CLIP-seq
MIRT1466693	hsa-miR-4318	CLIP-seq
MIRT1466694	hsa-miR-4417	CLIP-seq
MIRT1466695	hsa-miR-4422	CLIP-seq
MIRT1466696	hsa-miR-4428	CLIP-seq
MIRT1466697	hsa-miR-4430	CLIP-seq
MIRT1466698	hsa-miR-4492	CLIP-seq
MIRT1466699	hsa-miR-4498	CLIP-seq
MIRT1466700	hsa-miR-4518	CLIP-seq
MIRT1466701	hsa-miR-4519	CLIP-seq
MIRT1466702	hsa-miR-452	CLIP-seq
MIRT1466703	hsa-miR-4656	CLIP-seq
MIRT1466704	hsa-miR-4675	CLIP-seq
MIRT1466705	hsa-miR-4676-3p	CLIP-seq
MIRT1466706	hsa-miR-4694-5p	CLIP-seq
MIRT1466707	hsa-miR-4716-3p	CLIP-seq
MIRT1466708	hsa-miR-4725-3p	CLIP-seq
MIRT1466709	hsa-miR-4741	CLIP-seq
MIRT1466710	hsa-miR-4747-5p	CLIP-seq
MIRT1466711	hsa-miR-4773	CLIP-seq
MIRT1466712	hsa-miR-4793-5p	CLIP-seq
MIRT1466713	hsa-miR-548aa	CLIP-seq
MIRT1466714	hsa-miR-548g	CLIP-seq
MIRT1466715	hsa-miR-592	CLIP-seq
MIRT1466716	hsa-miR-597	CLIP-seq
MIRT1466717	hsa-miR-599	CLIP-seq
MIRT1466718	hsa-miR-625	CLIP-seq
MIRT1466719	hsa-miR-664	CLIP-seq
MIRT1466720	hsa-miR-762	CLIP-seq
MIRT1466721	hsa-miR-1258	CLIP-seq
MIRT1466722	hsa-miR-141	CLIP-seq
MIRT1466723	hsa-miR-199a-5p	CLIP-seq
MIRT1466724	hsa-miR-199b-5p	CLIP-seq
MIRT1466725	hsa-miR-200a	CLIP-seq
MIRT739255	hsa-miR-2355-5p	CLIP-seq
MIRT1466726	hsa-miR-25	CLIP-seq
MIRT1466727	hsa-miR-298	CLIP-seq
MIRT739256	hsa-miR-3189-5p	CLIP-seq
MIRT1466728	hsa-miR-32	CLIP-seq
MIRT1466729	hsa-miR-363	CLIP-seq
MIRT1466730	hsa-miR-367	CLIP-seq
MIRT1466731	hsa-miR-3672	CLIP-seq
MIRT1466732	hsa-miR-3678-3p	CLIP-seq
MIRT1466733	hsa-miR-3919	CLIP-seq
MIRT1466734	hsa-miR-4712-3p	CLIP-seq
MIRT739254	hsa-miR-4749-3p	CLIP-seq
MIRT1466735	hsa-miR-4756-3p	CLIP-seq
MIRT1466736	hsa-miR-507	CLIP-seq
MIRT1466737	hsa-miR-557	CLIP-seq
MIRT1466738	hsa-miR-92a	CLIP-seq
MIRT1466739	hsa-miR-92b	CLIP-seq
MIRT2361034	hsa-miR-2681	CLIP-seq
MIRT2361035	hsa-miR-3136-5p	CLIP-seq
MIRT2361036	hsa-miR-4439	CLIP-seq
MIRT2361037	hsa-miR-4533	CLIP-seq
MIRT1466710	hsa-miR-4747-5p	CLIP-seq
MIRT2361038	hsa-miR-943	CLIP-seq
MIRT1466721	hsa-miR-1258	CLIP-seq
MIRT1466722	hsa-miR-141	CLIP-seq
MIRT1466725	hsa-miR-200a	CLIP-seq
MIRT1466731	hsa-miR-3672	CLIP-seq
MIRT2361039	hsa-miR-4266	CLIP-seq
MIRT2361040	hsa-miR-4695-5p	CLIP-seq
MIRT1466734	hsa-miR-4712-3p	CLIP-seq
MIRT2361041	hsa-miR-4779	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000813	Component	ESCRT I complex	IBA	21873635
GO:0000813	Component	ESCRT I complex	IDA	21757351
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005737	Component	Cytoplasm	IDA
GO:0005829	Component	Cytosol	IDA	21757351
GO:0005886	Component	Plasma membrane	IDA
GO:0010008	Component	Endosome membrane	TAS
GO:0015031	Process	Protein transport	IEA
GO:0016197	Process	Endosomal transport	TAS
GO:0019058	Process	Viral life cycle	TAS
GO:0043130	Function	Ubiquitin binding	IBA	21873635
GO:0043130	Function	Ubiquitin binding	IDA	21757351
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IBA	21873635
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IMP	21757351
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043657	Component	Host cell	IEA
GO:0075733	Process	Intracellular transport of virus	TAS

MIM	HGNC	e!Ensembl
609787	12461	ENSG00000165006

Protein

UniProt ID

Q9NZ09

Protein name

Ubiquitin-associated protein 1 (UBAP-1) (Nasopharyngeal carcinoma-associated gene 20 protein)

Protein function

Component of the ESCRT-I complex, a regulator of vesicular trafficking process (PubMed:21757351, PubMed:22405001, PubMed:31203368). Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into mult

PDB

1WGN , 4AE4 , 5LM1

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle and pancreas. {ECO:0000269|PubMed:11599797}.

Sequence

MASKKLGADFHGTFSYLDDVPFKTGDKFKTPAKVGLPIGFSLPDCLQVVREVQYDFSLEK
KTIEWAEEIKKIEEAEREAECKIAEAEAKVNSKSGPEGDSKMSFSKTHSTATMPPPINPI
LASLQHNSILTPTRVSSSATKQKVLSPPHIKADFNLADFECEEDPFDNLELKTIDEKEEL
RNILVGTTGPIMAQLLDNNLPRGGSGSVLQDEEVLASLERATLDFKPLHKPNGFITLPQL
GNCEKMSLSSKVSLPPIPAVSNIKSLSFPKLDSDDSNQKTAKLASTFHSTSCLRNGTFQN
SLKPSTQSSASELNGHHTLGLSALNLDSGTEMPALTSSQMPSLSVLSVCTEESSPPNTGP
TVTPPNFSVSQVPNMPSCPQAYSELQMLSPSERQCVETVVNMGYSYECVLRAMKKKGENI
EQILDYLFAHGQLCEKGFDPLLVEEALEMHQCSEEKMMEFLQLMSKFKEMGFELKDIKEV
LLLHNNDQDNALEDLMARAGAS

Sequence length

502

Interactions

View interactions

	Reactome
			Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins Endosomal Sorting Complex Required For Transport (ESCRT) HCMV Late Events

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Spastic paraplegia	Spastic Paraplegia, Spastic Paraplegia, Hereditary	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520 View all (368 more)	30929741

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Evidence	Source
Unknown
Spastic Paraplegia	hereditary spastic paraplegia 12, spastic paraplegia 80, autosomal dominant		GenCC
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.	GWAS, CBGDA

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
Brain Diseases	Associate	38402586
Carcinoma Ovarian Epithelial	Associate	28423358
Carcinoma Renal Cell	Associate	28423358
Frontotemporal Dementia	Associate	25239657
Frontotemporal Lobar Degeneration	Associate	19217189
Gout	Associate	32630231
Hydrocephalus	Associate	38402586
Inflammation	Associate	32630231
Learning Disabilities	Associate	32934340
Motor Neuron Disease	Associate	25239657
Neurofibrosarcoma	Associate	32590748
Parkinson Disease Secondary	Associate	32934340
Spastic Paraplegia Hereditary	Associate	31696996, 32934340, 35347897, 36739287

UBAP1 (ubiquitin associated protein 1)