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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55075
Gene name	Uveal autoantigen with coiled-coil domains and ankyrin repeats
Gene symbol	UACA
Synonyms (NCBI Gene)	NUCLING
Chromosome	15
Chromosome location	15q23
Summary	This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution,

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024757	hsa-miR-215-5p	Microarray	19074876
MIRT026209	hsa-miR-192-5p	Microarray	19074876
MIRT046407	hsa-miR-15b-5p	CLASH	23622248
MIRT036623	hsa-miR-940	CLASH	23622248
MIRT686411	hsa-miR-4438	HITS-CLIP	23313552
MIRT686410	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT686409	hsa-miR-6840-5p	HITS-CLIP	23313552
MIRT686408	hsa-miR-4707-5p	HITS-CLIP	23313552
MIRT686407	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT686406	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT686405	hsa-miR-5095	HITS-CLIP	23313552
MIRT686404	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT686403	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT686402	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT686411	hsa-miR-4438	HITS-CLIP	23313552
MIRT686410	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT686409	hsa-miR-6840-5p	HITS-CLIP	23313552
MIRT686408	hsa-miR-4707-5p	HITS-CLIP	23313552
MIRT686407	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT686406	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT686405	hsa-miR-5095	HITS-CLIP	23313552
MIRT686404	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT686403	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT686402	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT1466122	hsa-miR-1281	CLIP-seq
MIRT1466123	hsa-miR-1911	CLIP-seq
MIRT1466124	hsa-miR-1915	CLIP-seq
MIRT1466125	hsa-miR-1976	CLIP-seq
MIRT1466126	hsa-miR-4279	CLIP-seq
MIRT1466127	hsa-miR-4284	CLIP-seq
MIRT1466128	hsa-miR-4421	CLIP-seq
MIRT1466129	hsa-miR-4726-3p	CLIP-seq
MIRT1466130	hsa-miR-4740-3p	CLIP-seq
MIRT1466131	hsa-miR-4772-3p	CLIP-seq
MIRT1466132	hsa-miR-498	CLIP-seq
MIRT1466133	hsa-miR-1245b-3p	CLIP-seq
MIRT1466122	hsa-miR-1281	CLIP-seq
MIRT1466134	hsa-miR-1297	CLIP-seq
MIRT1466135	hsa-miR-142-5p	CLIP-seq
MIRT1466136	hsa-miR-186	CLIP-seq
MIRT1466124	hsa-miR-1915	CLIP-seq
MIRT1466125	hsa-miR-1976	CLIP-seq
MIRT1466137	hsa-miR-2110	CLIP-seq
MIRT1466138	hsa-miR-24	CLIP-seq
MIRT1466139	hsa-miR-26a	CLIP-seq
MIRT1466140	hsa-miR-26b	CLIP-seq
MIRT1466141	hsa-miR-3144-3p	CLIP-seq
MIRT1466142	hsa-miR-3162-5p	CLIP-seq
MIRT1466143	hsa-miR-3613-3p	CLIP-seq
MIRT1466144	hsa-miR-3663-5p	CLIP-seq
MIRT1466145	hsa-miR-3680	CLIP-seq
MIRT1466146	hsa-miR-4256	CLIP-seq
MIRT1466147	hsa-miR-4271	CLIP-seq
MIRT1466126	hsa-miR-4279	CLIP-seq
MIRT1466127	hsa-miR-4284	CLIP-seq
MIRT1466148	hsa-miR-4287	CLIP-seq
MIRT1466149	hsa-miR-4307	CLIP-seq
MIRT1466150	hsa-miR-4330	CLIP-seq
MIRT1466128	hsa-miR-4421	CLIP-seq
MIRT1466151	hsa-miR-4465	CLIP-seq
MIRT1466152	hsa-miR-4469	CLIP-seq
MIRT1466153	hsa-miR-4504	CLIP-seq
MIRT1466154	hsa-miR-4635	CLIP-seq
MIRT1466155	hsa-miR-4653-3p	CLIP-seq
MIRT1466156	hsa-miR-4685-3p	CLIP-seq
MIRT1466157	hsa-miR-4713-5p	CLIP-seq
MIRT1466158	hsa-miR-4725-3p	CLIP-seq
MIRT1466129	hsa-miR-4726-3p	CLIP-seq
MIRT1466130	hsa-miR-4740-3p	CLIP-seq
MIRT1466159	hsa-miR-4753-5p	CLIP-seq
MIRT1466131	hsa-miR-4772-3p	CLIP-seq
MIRT1466160	hsa-miR-4780	CLIP-seq
MIRT1466161	hsa-miR-493	CLIP-seq
MIRT1466132	hsa-miR-498	CLIP-seq
MIRT1466162	hsa-miR-513c	CLIP-seq
MIRT1466163	hsa-miR-514b-5p	CLIP-seq
MIRT1466164	hsa-miR-561	CLIP-seq
MIRT1466165	hsa-miR-591	CLIP-seq
MIRT1466166	hsa-miR-623	CLIP-seq
MIRT1466167	hsa-miR-630	CLIP-seq
MIRT1466168	hsa-miR-634	CLIP-seq
MIRT1466169	hsa-miR-944	CLIP-seq
MIRT1466123	hsa-miR-1911	CLIP-seq
MIRT2140174	hsa-miR-3682-5p	CLIP-seq
MIRT2140175	hsa-miR-4699-3p	CLIP-seq
MIRT1466130	hsa-miR-4740-3p	CLIP-seq
MIRT2140176	hsa-miR-496	CLIP-seq
MIRT2140177	hsa-miR-619	CLIP-seq
MIRT2140178	hsa-miR-759	CLIP-seq
MIRT2140179	hsa-miR-3910	CLIP-seq
MIRT2140177	hsa-miR-619	CLIP-seq
MIRT2360858	hsa-miR-34a	CLIP-seq
MIRT2360859	hsa-miR-34c-5p	CLIP-seq
MIRT2360860	hsa-miR-3677-5p	CLIP-seq
MIRT2360861	hsa-miR-449a	CLIP-seq
MIRT2360862	hsa-miR-449b	CLIP-seq
MIRT1466122	hsa-miR-1281	CLIP-seq
MIRT1466123	hsa-miR-1911	CLIP-seq
MIRT1466124	hsa-miR-1915	CLIP-seq
MIRT1466138	hsa-miR-24	CLIP-seq
MIRT2360858	hsa-miR-34a	CLIP-seq
MIRT2360859	hsa-miR-34c-5p	CLIP-seq
MIRT2360860	hsa-miR-3677-5p	CLIP-seq
MIRT1466127	hsa-miR-4284	CLIP-seq
MIRT2360861	hsa-miR-449a	CLIP-seq
MIRT2360862	hsa-miR-449b	CLIP-seq
MIRT2360863	hsa-miR-4539	CLIP-seq
MIRT1466129	hsa-miR-4726-3p	CLIP-seq
MIRT2360864	hsa-miR-4762-3p	CLIP-seq
MIRT1466131	hsa-miR-4772-3p	CLIP-seq
MIRT1466132	hsa-miR-498	CLIP-seq
MIRT2140177	hsa-miR-619	CLIP-seq
MIRT2140174	hsa-miR-3682-5p	CLIP-seq
MIRT2140175	hsa-miR-4699-3p	CLIP-seq
MIRT2140176	hsa-miR-496	CLIP-seq
MIRT2140178	hsa-miR-759	CLIP-seq
MIRT1466122	hsa-miR-1281	CLIP-seq
MIRT1466124	hsa-miR-1915	CLIP-seq
MIRT1466125	hsa-miR-1976	CLIP-seq
MIRT1466126	hsa-miR-4279	CLIP-seq
MIRT1466128	hsa-miR-4421	CLIP-seq
MIRT1466129	hsa-miR-4726-3p	CLIP-seq
MIRT1466132	hsa-miR-498	CLIP-seq
MIRT2654425	hsa-miR-548c-3p	CLIP-seq
MIRT1466122	hsa-miR-1281	CLIP-seq
MIRT1466124	hsa-miR-1915	CLIP-seq
MIRT1466125	hsa-miR-1976	CLIP-seq
MIRT1466126	hsa-miR-4279	CLIP-seq
MIRT1466128	hsa-miR-4421	CLIP-seq
MIRT1466129	hsa-miR-4726-3p	CLIP-seq
MIRT1466132	hsa-miR-498	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	17003112, 25416956, 28514442, 31413325, 32296183, 33961781
GO:0005576	Component	Extracellular region	NAS	11162650
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IBA
GO:0008631	Process	Intrinsic apoptotic signaling pathway in response to oxidative stress	IBA
GO:0050728	Process	Negative regulation of inflammatory response	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IBA

MIM	HGNC	e!Ensembl
612516	15947	ENSG00000137831

Q9BZF9

Protein name

Uveal autoantigen with coiled-coil domains and ankyrin repeats

Protein function

Regulates APAF1 expression and plays an important role in the regulation of stress-induced apoptosis. Promotes apoptosis by regulating three pathways, apoptosome up-regulation, LGALS3/galectin-3 down-regulation and NF-kappa-B inactivation. Regul

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	38 → 129	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	72 → 164	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	116 → 197	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	166 → 230	Ankyrin repeats (3 copies)	Repeat

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in skeletal muscle, heart, kidney and pancreas. Expressed in choroid, retina and epidermal melanocytes. Expressed in eye muscles and thyroid follicular cells. {ECO:0000269|PubMed:11162650, ECO:0000269|PubMed:15358194}.

Sequence

MKSLKSRLRRQDVPGPASSGAAAASAHAADWNKYDDRLMKAAERGDVEKVTSILAKKGVN
PGKLDVEGRSVFHVVTSKGNLECLNAILIHGVDITTSDTAGRNALHLAAKYGHALCLQKL
LQYNCPTEHADLQGRTALHDAAMADCPSSIQLLCDHGASVNAKDVDGRTPLVLATQMSRP
TICQLLIDRGADVNSRDKQNRTALMLGCEYGCRDAVEVLIKNGADISLLDALGHDSSYYA
RIGDNLDILTLLKTASENTNKGRELWKKGPSLQQRNLTHMQDEVNVKSHQREHQNIQDLE
IENEDLKERLRKIQQEQRILLDKVNGLQLQLNEEVMVADDLESEREKLKSLLAAKEKQHE
ESLRTIEALKNRFKYFESDHLGSGSHFSNRKEDMLLKQGQMYMADSQCTSPGIPAHMQSR
SMLRPLELSLPSQTSYSENEILKKELEAMRTFCESAKQDRLKLQNELAHKVAECKALALE
CERVKEDSDEQIKQLEDALKDVQKRMYESEGKVKQMQTHFLALKEHLTSEAASGNHRLTE
ELKDQLKDLKVKYEGASAEVGKLRNQIKQNEMIVEEFKRDEGKLIEENKRLQKELSMCEM
EREKKGRKVTEMEGQAKELSAKLALSIPAEKFENMKSSLSNEVNEKAKKLVEMEREHEKS
LSEIRQLKRELENVKAKLAQHVKPEEHEQVKSRLEQKSGELGKKITELTLKNQTLQKEIE
KVYLDNKLLKEQAHNLTIEMKNHYVPLKVSEDMKKSHDAIIDDLNRKLLDVTQKYTEKKL
EMEKLLLENDSLSKDVSRLETVFVPPEKHEKEIIALKSNIVELKKQLSELKKKCGEDQEK
IHALTSENTNLKKMMSNQYVPVKTHEEVKMTLNDTLAKTNRELLDVKKKFEDINQEFVKI
KDKNEILKRNLENTQNQIKAEYISLAEHEAKMSSLSQSMRKVQDSNAEILANYRKGQEEI
VTLHAEIKAQKKELDTIQECIKVKYAPIVSFEECERKFKATEKELKDQLSEQTQKYSVSE
EEVKKNKQENDKLKKEIFTLQKDLRDKTVLIEKSHEMERALSRKTDELNKQLKDLSQKYT
EVKNVKEKLVEENAKQTSEILAVQNLLQKQHVPLEQVEALKKSLNGTIENLKEELKSMQR
CYEKEQQTVTKLHQLLENQKNSSVPLAEHLQIKEAFEKEVGIIKASLREKEEESQNKMEE
VSKLQSEVQNTKQALKKLETREVVDLSKYKATKSDLETQISSLNEKLANLNRKYEEVCEE
VLHAKKKEISAKDEKELLHFSIEQEIKDQKERCDKSLTTITELQRRIQESAKQIEAKDNK
ITELLNDVERLKQALNGLSQLTYTSGNPTKRQSQLIDTLQHQVKSLEQQLADADRQHQEV
IAIYRTHLLSAAQGHMDEDVQEALLQIIQMRQGLVC

Sequence length

1416

Interactions

View interactions

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs62016913	RCV005935426
Adrenocortical carcinoma, hereditary	Benign	rs62016913	RCV005935429
Cervical cancer	Benign	rs61746365	RCV005938706
Cholangiocarcinoma	Likely benign; Benign	rs534411044, rs62016913	RCV005871460 RCV005935435
Clear cell carcinoma of kidney	Benign	rs61746365, rs150049035, rs62016913	RCV005938707 RCV005935291 RCV005935430
Colon adenocarcinoma	Benign	rs61746365, rs62016913	RCV005938705 RCV005935425
Colorectal cancer	Benign	rs62016913	RCV005935432
Familial cancer of breast	Likely benign; Benign	rs534411044, rs150049035	RCV005871458 RCV005935287
Gastric cancer	Benign	rs61746365	RCV005938708
Hepatocellular carcinoma	Benign	rs150049035	RCV005935288
Lung cancer	Benign	rs61746365, rs150049035	RCV005938712 RCV005935295
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs534411044	RCV005871459
Malignant tumor of esophagus	Benign	rs150049035, rs62016913	RCV005935289 RCV005935427
Melanoma	Benign	rs150049035	RCV005935294
Nonpapillary renal cell carcinoma	Benign	rs150049035, rs62016913	RCV005935290 RCV005935428
Ovarian serous cystadenocarcinoma	Benign	rs62016913	RCV005935434
Sarcoma	Benign	rs62016913	RCV005935433
Thymoma	Benign	rs61746365, rs150049035	RCV005938710 RCV005935292
Thyroid cancer, nonmedullary, 1	Benign	rs61746365, rs150049035	RCV005938711 RCV005935293
UACA-related disorder	Likely benign; Benign	rs138757062, rs2030901389, rs1424400, rs575121985, rs147338503, rs1288295243, rs1004131889, rs934005, rs142570134, rs78551559, rs3743315, rs534411044, rs61742861, rs145929072, rs150013138 View all (18 more)	RCV003909318 RCV003907156 RCV003919761 RCV003914688 RCV003923968 RCV003929598 RCV003964634 RCV003974541 RCV003897319 RCV003974096 RCV003911953 RCV003979329 RCV003973905 RCV003944128 RCV003959493 RCV003939557 RCV003924416 RCV003922132 RCV003926960 RCV003932140 RCV003947038 RCV003952322 RCV003972319 RCV003979314 RCV003981971 RCV003971587 RCV003976731 RCV003976746 RCV003981293 RCV003981324 RCV003925495 RCV003915933 RCV003928460
Uterine carcinosarcoma	Benign	rs61746365	RCV005938709
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs534411044, rs61746365, rs62016913	RCV005871461 RCV005938713 RCV005935436
Uveal melanoma	Benign	rs62016913	RCV005935431

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Pancreatic Ductal	Associate	32899691
Colorectal Neoplasms	Associate	24146633, 33294438
Mitochondrial Diseases	Associate	28813012

UACA (uveal autoantigen with coiled-coil domains and ankyrin repeats)