YY1AP1 (YY1 associated protein 1)

Gene

• Entrez ID: 55249
• Gene name: YY1 associated protein 1
• Gene symbol: YY1AP1
• Synonyms: GRNG, HCCA1, HCCA2, YY1AP
• 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]

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004478	hsa-miR-375	Luciferase reporter assay, Western blot	20226166
MIRT046762	hsa-miR-222-3p	CLASH	23622248
MIRT732624	hsa-miR-16-5p	qRT-PCR	26293467
MIRT733928	hsa-miR-132-3p	Luciferase reporter assay, qRT-PCR, Western blot	26096363

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0003712	Function	Transcription coregulator activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	14744866, 16713569, 17541814, 27939641
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	17541814, 27939641
GO:0005654	Component	Nucleoplasm	IDA	27939641
GO:0005730	Component	Nucleolus	IDA	27939641
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of transcription, DNA-templated	IBA	21873635
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

Other IDs

• MIM: 607860
• HGNC: 30935
• e!Ensembl: ENSG00000163374

Protein

• UniProt ID: 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 regulation (PubMed:17541814, PubMed:27939641).
• Sequence:

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

• Sequence length: 796

Associated diseases

Disease name	Disease term	References
	Aortic Valve Insufficiency
	Brachydactyly
	Carotid Stenosis
	Clinodactyly of fingers
	Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly	27939641
	Grange syndrome
	Hypertensive disease
	Hypertension, Renovascular
	Borderline intellectual disability
	Intellectual Disability
	Patent ductus arteriosus
	Renal Artery Stenosis
	Specific learning disability
	Syndactyly
	Ventricular Septal Defects