YY1AP1 (YY1 associated protein 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55249
Gene name Gene Name - the full gene name approved by the HGNC.
YY1 associated protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
YY1AP1
Synonyms (NCBI Gene) Gene synonyms aliases
GRNG, HCCA1, HCCA2, YY1AP
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q22
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT004478 hsa-miR-375 Luciferase reporter assay, Western blot 20226166
MIRT046762 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607860 30935 ENSG00000163374
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Grange Syndrome grange syndrome rs1057519599, rs199653824, rs1558307853, rs749232831, rs1057519597, rs1057519598, rs759089960 N/A
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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