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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55249
Gene name	YY1 associated protein 1
Gene symbol	YY1AP1
Synonyms (NCBI Gene)	GRNGHCCA1HCCA2YY1AP
Chromosome	1
Chromosome location	1q22
Summary	The encoded gene product presumably interacts with YY1 protein; however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199653824	C>T	Pathogenic	Splice acceptor variant
rs749232831	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs759089960	CAGA>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1057519597	A>C,T	Pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs1057519598	C>A	Pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs1057519599	G>A	Pathogenic	Stop gained, coding sequence variant
rs1558307853	A>C	Pathogenic	Intron variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004478	hsa-miR-375	Luciferase reporter assayWestern blot	20226166
MIRT046762	hsa-miR-222-3p	CLASH	23622248

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0005515	Function	Protein binding	IPI	14744866, 16713569, 17541814, 27939641, 28514442, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	17541814, 27939641
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	27939641
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IDA	27939641
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0008283	Process	Cell population proliferation	IMP	27939641
GO:0030154	Process	Cell differentiation	IMP	27939641
GO:0031011	Component	Ino80 complex	IDA	27939641
GO:0051726	Process	Regulation of cell cycle	IDA	17541814
GO:0051726	Process	Regulation of cell cycle	IMP	27939641

MIM	HGNC	e!Ensembl
607860	30935	ENSG00000163374

Q9H869

Protein name

YY1-associated protein 1 (Hepatocellular carcinoma susceptibility protein) (Hepatocellular carcinoma-associated protein 2)

Protein function

Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication (PubMed:27939641). Enhances transcription activation by YY1 (PubMed:14744866). Plays a role in cell cycle re

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Detected in small intestine, skeletal muscle, lung, pancreas, brain, stomach, spleen, colon and heart. Detected at very low levels in healthy liver. Highly expressed in most liver carcinomas. {ECO:0000269|PubMed:11710830, E

Sequence

MEEEASRSAAATNPGSRLTRWPPPDKREGSAVDPGKRRSLAATPSSSLPCTLIALGLRHE
KEANELMEDLFETFQDEMGFSNMEDDGPEEEERVAEPQANFNTPQALRFEELLANLLNEQ
HQIAKELFEQLKMKKPSAKQQKEVEKVKPQCKEVHQTLILDPAQRKRLQQQMQQHVQLLT
QIHLLATCNPNLNPEASSTRICLKELGTFAQSSIALHHQYNPKFQTLFQPCNLMGAMQLI
EDFSTHVSIDCSPHKTVKKTANEFPCLPKQVAWILATSKVFMYPELLPVCSLKAKNPQDK
ILFTKAEDNKYLLTCKTARQLTVRIKNLNMNRAPDNIIKFYKKTKQLPVLGKCCEEIQPH
QWKPPIEREEHRLPFWLKASLPSIQEELRHMADGAREVGNMTGTTEINSDQGLEKDNSEL
GSETRYPLLLPKGVVLKLKPVADRFPKKAWRQKRSSVLKPLLIQPSPSLQPSFNPGKTPA
QSTHSEAPPSKMVLRIPHPIQPATVLQTVPGVPPLGVSGGESFESPAALPAMPPEARTSF
PLSESQTLLSSAPVPKVMMPSPASSMFRKPYVRRRPSKRRGARAFRCIKPAPVIHPASVI
FTVPATTVKIVSLGGGCNMIQPVNAAVAQSPQTIPIATLLVNPTSFPCPLNQPLVASSVS
PLIVSGNSVNLPIPSTPEDKAHMNVDIACAVADGENAFQGLEPKLEPQELSPLSATVFPK
VEHSPGPPPVDKQCQEGLSENSAYRWTVVKTEEGRQALEPLPQGIQESLNNSSPGDLEEV
VKMEPEDATEEISGFL

Sequence length

796

Interactions

View interactions

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Grange syndrome	Likely pathogenic; Pathogenic	rs2149039608, rs1388180864, rs778646700, rs749232831, rs1057519597, rs1057519598, rs759089960, rs1057519599, rs199653824, rs1558307853	RCV001420675 RCV002226948 RCV003990551 RCV000417115 RCV000417119 RCV000417123 RCV000417116 RCV000417120 RCV000714980 RCV000714955
YY1AP1-related disorder	Likely pathogenic; Pathogenic	rs1057519599	RCV003409584

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Uterine corpus endometrial carcinoma	Benign	rs141378369	RCV005910385

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arterial Occlusive Disease Progressive with Hypertension Heart Defects Bone Fragility and Brachysyndactyly	Associate	27939641, 30556293, 33971976
Arterial Occlusive Diseases	Stimulate	31474762
Brachydactyly	Associate	33971976
Burkitt Lymphoma	Associate	35794096
Carcinoma Hepatocellular	Associate	25597408
Carcinoma Large Cell	Associate	31474762
Cerebral Arterial Diseases	Associate	33971976
Cerebrovascular Disorders	Stimulate	31474762
Connective Tissue Diseases	Associate	33125268
Coronary Artery Dissection Spontaneous	Associate	33125268
Fibromuscular Dysplasia	Associate	27939641
Heart Defects Congenital	Associate	33971976
Learning Disabilities	Associate	33971976
Moyamoya disease 1	Associate	31474762
Neoplasms	Associate	25597408
Osteoporosis pseudoglioma syndrome	Associate	33971976
Syndactyly	Associate	33971976
Vascular Diseases	Associate	27939641

YY1AP1 (YY1 associated protein 1)