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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10422
Gene name	UBA domain containing 1
Gene symbol	UBAC1
Synonyms (NCBI Gene)	GBDR1KPC2UBADC1
Chromosome	9
Chromosome location	9q34.3

Show/Hide all (81)

miRTarBase ID	miRNA	Experiments
MIRT1466668	hsa-miR-3156-5p	CLIP-seq
MIRT1466669	hsa-miR-383	CLIP-seq
MIRT1466670	hsa-miR-3919	CLIP-seq
MIRT1466671	hsa-miR-3942-5p	CLIP-seq
MIRT1466672	hsa-miR-4703-5p	CLIP-seq
MIRT1466673	hsa-miR-4756-3p	CLIP-seq
MIRT1466674	hsa-miR-561	CLIP-seq
MIRT2140272	hsa-miR-1184	CLIP-seq
MIRT2140273	hsa-miR-132	CLIP-seq
MIRT2140274	hsa-miR-212	CLIP-seq
MIRT1466668	hsa-miR-3156-5p	CLIP-seq
MIRT1466669	hsa-miR-383	CLIP-seq
MIRT1466670	hsa-miR-3919	CLIP-seq
MIRT1466671	hsa-miR-3942-5p	CLIP-seq
MIRT1466672	hsa-miR-4703-5p	CLIP-seq
MIRT2140275	hsa-miR-4733-3p	CLIP-seq
MIRT1466673	hsa-miR-4756-3p	CLIP-seq
MIRT1466674	hsa-miR-561	CLIP-seq
MIRT2140276	hsa-miR-646	CLIP-seq
MIRT2361028	hsa-miR-1273c	CLIP-seq
MIRT2140273	hsa-miR-132	CLIP-seq
MIRT2361029	hsa-miR-1825	CLIP-seq
MIRT2140274	hsa-miR-212	CLIP-seq
MIRT1466668	hsa-miR-3156-5p	CLIP-seq
MIRT2361030	hsa-miR-3683	CLIP-seq
MIRT1466669	hsa-miR-383	CLIP-seq
MIRT1466670	hsa-miR-3919	CLIP-seq
MIRT1466671	hsa-miR-3942-5p	CLIP-seq
MIRT2361031	hsa-miR-4436b-5p	CLIP-seq
MIRT2361032	hsa-miR-4529-5p	CLIP-seq
MIRT1466672	hsa-miR-4703-5p	CLIP-seq
MIRT1466673	hsa-miR-4756-3p	CLIP-seq
MIRT2361033	hsa-miR-483-3p	CLIP-seq
MIRT2654559	hsa-miR-103a	CLIP-seq
MIRT2654560	hsa-miR-107	CLIP-seq
MIRT2140272	hsa-miR-1184	CLIP-seq
MIRT2140273	hsa-miR-132	CLIP-seq
MIRT2140274	hsa-miR-212	CLIP-seq
MIRT2654561	hsa-miR-2278	CLIP-seq
MIRT2654562	hsa-miR-3065-3p	CLIP-seq
MIRT1466668	hsa-miR-3156-5p	CLIP-seq
MIRT2654563	hsa-miR-3197	CLIP-seq
MIRT2654564	hsa-miR-329	CLIP-seq
MIRT2654565	hsa-miR-362-3p	CLIP-seq
MIRT1466669	hsa-miR-383	CLIP-seq
MIRT1466670	hsa-miR-3919	CLIP-seq
MIRT2654566	hsa-miR-3941	CLIP-seq
MIRT1466671	hsa-miR-3942-5p	CLIP-seq
MIRT2654567	hsa-miR-4446-3p	CLIP-seq
MIRT2654568	hsa-miR-455-3p	CLIP-seq
MIRT2654569	hsa-miR-4649-3p	CLIP-seq
MIRT2654570	hsa-miR-4656	CLIP-seq
MIRT2654571	hsa-miR-466	CLIP-seq
MIRT2654572	hsa-miR-4672	CLIP-seq
MIRT2654573	hsa-miR-4685-5p	CLIP-seq
MIRT1466672	hsa-miR-4703-5p	CLIP-seq
MIRT2654574	hsa-miR-4722-5p	CLIP-seq
MIRT1466673	hsa-miR-4756-3p	CLIP-seq
MIRT1466674	hsa-miR-561	CLIP-seq
MIRT2654575	hsa-miR-603	CLIP-seq
MIRT2140276	hsa-miR-646	CLIP-seq
MIRT2654559	hsa-miR-103a	CLIP-seq
MIRT2654560	hsa-miR-107	CLIP-seq
MIRT2140272	hsa-miR-1184	CLIP-seq
MIRT2654561	hsa-miR-2278	CLIP-seq
MIRT2654562	hsa-miR-3065-3p	CLIP-seq
MIRT1466668	hsa-miR-3156-5p	CLIP-seq
MIRT2654564	hsa-miR-329	CLIP-seq
MIRT2654565	hsa-miR-362-3p	CLIP-seq
MIRT1466669	hsa-miR-383	CLIP-seq
MIRT1466670	hsa-miR-3919	CLIP-seq
MIRT2654566	hsa-miR-3941	CLIP-seq
MIRT1466671	hsa-miR-3942-5p	CLIP-seq
MIRT2654571	hsa-miR-466	CLIP-seq
MIRT2654572	hsa-miR-4672	CLIP-seq
MIRT1466672	hsa-miR-4703-5p	CLIP-seq
MIRT2654574	hsa-miR-4722-5p	CLIP-seq
MIRT1466673	hsa-miR-4756-3p	CLIP-seq
MIRT1466674	hsa-miR-561	CLIP-seq
MIRT2654575	hsa-miR-603	CLIP-seq
MIRT2140276	hsa-miR-646	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000151	Component	Ubiquitin ligase complex	IBA
GO:0005515	Function	Protein binding	IPI	16189514, 17500595, 21516116, 23275563, 25416956, 28514442, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0016567	Process	Protein ubiquitination	IDA	16227581
GO:0016567	Process	Protein ubiquitination	IEA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IDA	16227581
GO:0051604	Process	Protein maturation	IDA	25860612
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070628	Function	Proteasome binding	IDA	16227581

MIM	HGNC	e!Ensembl
608129	30221	ENSG00000130560

Q9BSL1

Protein name

Ubiquitin-associated domain-containing protein 1 (UBA domain-containing protein 1) (Glialblastoma cell differentiation-related protein 1) (Kip1 ubiquitination-promoting complex protein 2)

Protein function

Non-catalytic component of the KPC complex, a E3 ubiquitin-protein ligase complex that mediates polyubiquitination of target proteins, such as CDKN1B and NFKB1 (PubMed:15531880, PubMed:15746103, PubMed:16227581, PubMed:25860612). The KPC complex

PDB

2DAI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00627	UBA	192 → 228	UBA/TS-N domain	Domain
PF00627	UBA	289 → 325	UBA/TS-N domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10857748}.

Sequence

MFVQEEKIFAGKVLRLHICASDGAEWLEEATEDTSVEKLKERCLKHCAHGSLEDPKSITH
HKLIHAASERVLSDARTILEENIQDQDVLLLIKKRAPSPLPKMADVSAEEKKKQDQKAPD
KEAILRATANLPSYNMDRAAVQTNMRDFQTELRKILVSLIEVAQKLLALNPDAVELFKKA
NAMLDEDEDERVDEAALRQLTEMGFPENRATKALQLNHMSVPQAMEWLIEHAEDPTIDTP
LPGQAPPEAEGATAAASEAAAGASATDEEARDELTEIFKKIRRKREFRADARAVISLMEM
GFDEKEVIDALRVNNNQQNAACEWLLGDRKPSPEELDKGIDPDSPLFQAILDNPVVQLGL
TNPKTLLAFEDMLENPLNSTQWMNDPETGPVMLQISRIFQTLNRT

Sequence length

405

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

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 Unknown Diseases (3)

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.
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Parkinson Disease	Parkinson disease	BEFREE	29476983	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	15504876	★★★★★ ★☆☆☆☆ Found in Text Mining only

UBAC1 (UBA domain containing 1)