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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51271
Gene name	Ubiquitin associated protein 1
Gene symbol	UBAP1
Synonyms (NCBI Gene)	NAG20SPG80UAPUBAPUBAP-1
Chromosome	9
Chromosome location	9p13.3
Summary	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 assayWestern blot	20053927
MIRT003280	hsa-miR-141-3p	Luciferase reporter assayWestern 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 (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000813	Component	ESCRT I complex	IBA
GO:0000813	Component	ESCRT I complex	IDA	21757351
GO:0000813	Component	ESCRT I complex	IEA
GO:0000813	Component	ESCRT I complex	IPI	21757351
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005737	Component	Cytoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IDA	21757351
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0010008	Component	Endosome membrane	NAS	32424346
GO:0010008	Component	Endosome membrane	TAS
GO:0015031	Process	Protein transport	IEA
GO:0036258	Process	Multivesicular body assembly	NAS	32424346
GO:0043130	Function	Ubiquitin binding	IBA
GO:0043130	Function	Ubiquitin binding	IDA	21757351
GO:0043130	Function	Ubiquitin binding	IEA
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IBA
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IEA
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IMP	21757351
GO:0043328	Process	Protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	NAS	32424346
GO:0090148	Process	Membrane fission	NAS	32424346

MIM	HGNC	e!Ensembl
609787	12461	ENSG00000165006

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hereditary spastic paraplegia	Pathogenic	rs1563920252	RCV005626202	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 80, autosomal dominant	Likely pathogenic; Pathogenic	rs1227081826, rs2131620305, rs2491080250, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs1587878722, rs1587879449, rs1587878961, rs1833955862	RCV002226873 RCV002246801 RCV003388179 RCV000770927 RCV000770928 RCV000770929 RCV000770930 RCV000770931 RCV000770932 RCV000850170 RCV000850171 RCV001027715 RCV001199970	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 12	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 80	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRCAX BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UBAP1-related disorder	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Brain Diseases	Associate	38402586	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Associate	28423358	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	28423358	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Associate	25239657	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Associate	19217189	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Associate	32630231	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Associate	38402586	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	32630231	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Associate	32934340	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Associate	25239657	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Associate	32590748	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Associate	32934340	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Associate	31696996, 32934340, 35347897, 36739287	★★★★★ ★☆☆☆☆ Found in Text Mining only

UBAP1 (ubiquitin associated protein 1)