Free for academic non-profit institutions. Other users need a Commercial license

Aliases for YY1AP1 Gene

Aliases for YY1AP1 Gene

  • YY1 Associated Protein 1 2 3 5
  • Hepatocellular Carcinoma Susceptibility Protein 3 4
  • Hepatocellular Carcinoma-Associated Protein 2 3 4
  • HCCA2 3 4
  • YY1AP 3 4
  • YY1-Associated Protein 1 3
  • HCCA1 3
  • GRNG 3

External Ids for YY1AP1 Gene

Previous GeneCards Identifiers for YY1AP1 Gene

  • GC01M152444
  • GC01M153895
  • GC01M155630
  • GC01M126991

Summaries for YY1AP1 Gene

Entrez Gene Summary for YY1AP1 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]

GeneCards Summary for YY1AP1 Gene

YY1AP1 (YY1 Associated Protein 1) is a Protein Coding gene. Diseases associated with YY1AP1 include Grange Syndrome and Fibromuscular Dysplasia. An important paralog of this gene is GON4L.

UniProtKB/Swiss-Prot for YY1AP1 Gene

  • 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).

Gene Wiki entry for YY1AP1 Gene

Additional gene information for YY1AP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for YY1AP1 Gene

Genomics for YY1AP1 Gene

GeneHancer (GH) Regulatory Elements for YY1AP1 Gene

Promoters and enhancers for YY1AP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I155687 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 572 +0.1 92 3.9 HDGF CLOCK FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B YY1AP1 DAP3 KHDC4 GON4L CLK2 LMNA ENSG00000271267 SHC1 SYT11 ASH1L
GH01I155242 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 54.6 +444.8 444790 2.9 FEZF1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 GBA KHDC4 GON4L CLK2 ENSG00000271267 MSTO1 MSTO2P RUSC1-AS1 THBS3 SHC1
GH01I154998 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 28.6 +684.6 684581 11.3 CLOCK MLX YBX1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 ZBTB7B GON4L CLK2 UBAP2L KHDC4 ENSG00000271267 RUSC1-AS1 MSTO1 THBS3 MSTO2P
GH01I154965 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 31.4 +717.0 716978 12.2 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 SHC1 CKS1B GON4L UBAP2L CLK2 KHDC4 THBS3 ENSG00000271267 KRTCAP2 FLAD1
GH01I156111 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 25.8 -432.4 -432357 19.4 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 LMNA GON4L CLK2 RRNAD1 KHDC4 LOC246784 MSTO1 MSTO2P PRCC ISG20L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around YY1AP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the YY1AP1 gene promoter:

Genomic Locations for YY1AP1 Gene

Genomic Locations for YY1AP1 Gene
chr1:155,659,442-155,689,032
(GRCh38/hg38)
Size:
29,591 bases
Orientation:
Minus strand
chr1:155,629,233-155,658,823
(GRCh37/hg19)

Genomic View for YY1AP1 Gene

Genes around YY1AP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
YY1AP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for YY1AP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for YY1AP1 Gene

Proteins for YY1AP1 Gene

  • Protein details for YY1AP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H869-YYAP1_HUMAN
    Recommended name:
    YY1-associated protein 1
    Protein Accession:
    Q9H869
    Secondary Accessions:
    • B0QZ54
    • B4DMP2
    • B4E0I0
    • D3DV96
    • D3DV98
    • H7BY62
    • Q5VYZ1
    • Q5VYZ4
    • Q5VYZ7
    • Q7L4C3
    • Q7L5E2
    • Q8IXA6
    • Q8TEW5
    • Q8TF04
    • Q96HB6
    • Q9BQ64
    • Q9NV84

    Protein attributes for YY1AP1 Gene

    Size:
    796 amino acids
    Molecular mass:
    87944 Da
    Quaternary structure:
    • Interacts with YY1. Interacts with MAD2L2. Interacts with INO80.
    SequenceCaution:
    • Sequence=BAA91871.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for YY1AP1 Gene

neXtProt entry for YY1AP1 Gene

Post-translational modifications for YY1AP1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for YY1AP1 Gene

Domains & Families for YY1AP1 Gene

Gene Families for YY1AP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for YY1AP1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with YY1AP1: view

No data available for UniProtKB/Swiss-Prot for YY1AP1 Gene

Function for YY1AP1 Gene

Molecular function for YY1AP1 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for YY1AP1 Gene

Gene Ontology (GO) - Molecular Function for YY1AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14744866
genes like me logo Genes that share ontologies with YY1AP1: view
genes like me logo Genes that share phenotypes with YY1AP1: view

Human Phenotype Ontology for YY1AP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for YY1AP1 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for YY1AP1 Gene

Localization for YY1AP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for YY1AP1 Gene

Cytoplasm. Nucleus. Nucleus, nucleoplasm. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for YY1AP1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for YY1AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA,IEA 17541814
GO:0005654 nucleoplasm IEA,IDA 27939641
GO:0005730 nucleolus IEA,IDA 27939641
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with YY1AP1: view

Pathways & Interactions for YY1AP1 Gene

SuperPathways for YY1AP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for YY1AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008283 cell proliferation IMP 27939641
GO:0030154 cell differentiation IMP 27939641
GO:0051726 regulation of cell cycle IMP 27939641
genes like me logo Genes that share ontologies with YY1AP1: view

No data available for Pathways by source and SIGNOR curated interactions for YY1AP1 Gene

Drugs & Compounds for YY1AP1 Gene

No Compound Related Data Available

Transcripts for YY1AP1 Gene

Unigene Clusters for YY1AP1 Gene

YY1 associated protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for YY1AP1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c · 13d ^ 14a · 14b · 14c ·
SP1: - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - - - - - - -
SP5: - - - -
SP6: - - - -
SP7: - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - - - - - - - -
SP10: - - - - -
SP11: -
SP12: - -
SP13: - -
SP14:
SP15:

ExUns: 14d · 14e ^ 15 ^ 16 ^ 17a · 17b ^ 18
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - - -
SP10:
SP11:
SP12: -
SP13:
SP14: -
SP15:

Relevant External Links for YY1AP1 Gene

GeneLoc Exon Structure for
YY1AP1
ECgene alternative splicing isoforms for
YY1AP1

Expression for YY1AP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for YY1AP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for YY1AP1 Gene

This gene is overexpressed in Lung (56.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for YY1AP1 Gene



Protein tissue co-expression partners for YY1AP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of YY1AP1 Gene:

YY1AP1

SOURCE GeneReport for Unigene cluster for YY1AP1 Gene:

Hs.584927

mRNA Expression by UniProt/SwissProt for YY1AP1 Gene:

Q9H869-YYAP1_HUMAN
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.

Evidence on tissue expression from TISSUES for YY1AP1 Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Intestine(4.5)
  • Muscle(4.4)
  • Skin(4.3)
  • Stomach(2.8)
genes like me logo Genes that share expression patterns with YY1AP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for YY1AP1 Gene

Orthologs for YY1AP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for YY1AP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia YY1AP1 33 34
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 77 (a)
ManyToMany
-- 34
  • 29 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 62 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gon4l 34
  • 25 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 1 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 21 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 22 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-27c15.3 34
  • 12 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta mute 34
  • 7 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 7 (a)
ManyToMany
Species where no ortholog for YY1AP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for YY1AP1 Gene

ENSEMBL:
Gene Tree for YY1AP1 (if available)
TreeFam:
Gene Tree for YY1AP1 (if available)

Paralogs for YY1AP1 Gene

Paralogs for YY1AP1 Gene

(2) SIMAP similar genes for YY1AP1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with YY1AP1: view

Variants for YY1AP1 Gene

Sequence variations from dbSNP and Humsavar for YY1AP1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057519597 pathogenic, Grange syndrome 155,659,934(-) A/C/T 3_prime_UTR_variant, coding_sequence_variant, stop_gained
rs1057519598 pathogenic, Grange syndrome 155,659,923(-) C/A 3_prime_UTR_variant, coding_sequence_variant, stop_gained
rs1057519599 pathogenic, Grange syndrome 155,676,622(-) G/A coding_sequence_variant, stop_gained
rs749232831 pathogenic, Grange syndrome 155,676,562(-) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs759089960 pathogenic, Grange syndrome 155,660,418(-) CAGACAGA/CAGA 3_prime_UTR_variant, coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for YY1AP1 Gene

Variant ID Type Subtype PubMed ID
esv2718418 CNV deletion 23290073
esv2718429 CNV deletion 23290073
esv33869 CNV loss 17666407
esv3578199 CNV loss 25503493
esv3587627 CNV loss 21293372
esv3587628 CNV gain 21293372
esv3587630 CNV loss 21293372
nsv1161728 OTHER complex 26073780
nsv3054 CNV deletion 18451855
nsv428246 CNV gain 18775914
nsv436522 CNV deletion 17901297
nsv547965 CNV gain 21841781
nsv946419 CNV duplication 23825009
nsv946420 CNV duplication 23825009
nsv946421 CNV duplication 23825009

Variation tolerance for YY1AP1 Gene

Residual Variation Intolerance Score: 24.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.07; 68.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for YY1AP1 Gene

Human Gene Mutation Database (HGMD)
YY1AP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
YY1AP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for YY1AP1 Gene

Disorders for YY1AP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for YY1AP1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
grange syndrome
  • grng
fibromuscular dysplasia
  • fmda
hepatocellular carcinoma
  • hcc
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

YYAP1_HUMAN
  • Grange syndrome (GRNG) [MIM:602531]: An autosomal recessive syndrome of stenosis or occlusion of multiple arteries, including renal, abdominal, cerebral and probably coronary arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities. {ECO:0000269 PubMed:27939641}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for YY1AP1

genes like me logo Genes that share disorders with YY1AP1: view

No data available for Genatlas for YY1AP1 Gene

Publications for YY1AP1 Gene

  1. Identification and characterization of a novel human hepatocellular carcinoma-associated gene. (PMID: 11710830) Wang ZX … Wu MC (British journal of cancer 2001) 2 3 4 22 58
  2. Hepatocellular carcinoma-associated gene 2 interacts with MAD2L2. (PMID: 17541814) Li L … Huo K (Molecular and cellular biochemistry 2007) 3 4 22 58
  3. Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. (PMID: 27939641) Guo DC … Milewicz DM (American journal of human genetics 2017) 3 4 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for YY1AP1 Gene