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    YY1AP1 YY1 associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 55249, updated on 10-Dec-2024

    Summary

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    Official Symbol
    YY1AP1provided by HGNC
    Official Full Name
    YY1 associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:30935
    See related
    Ensembl:ENSG00000163374 MIM:607860; AllianceGenome:HGNC:30935
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GRNG; HCCA1; HCCA2; YY1AP
    Summary
    Predicted to enable transcription coregulator activity. Involved in cell differentiation; cell population proliferation; and regulation of cell cycle. Located in Ino80 complex; fibrillar center; and nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 35.6), bone marrow (RPKM 27.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See YY1AP1 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155659442..155688996, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154798015..154827559, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155629233..155658787, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene gon-4 like pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:155604951-155605710 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155605711-155606471 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155606472-155607231 Neighboring gene gon-4 like pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155657971-155658605 Neighboring gene translation initiation factor IF-2-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1818 Neighboring gene small Cajal body-specific RNA 26A Neighboring gene uncharacterized LOC124904431 Neighboring gene death associated protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1819 Neighboring gene misato family member 2, pseudogene Neighboring gene gon-4 like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of a novel human hepatocellular carcinoma-associated gene. Wang ZX, et al. Br J Cancer, 2001 Oct 19. PMID 11710830, Free PMC Article
    2. [Clone of a novel liver cancer associated gene and analysis of the secondary structures of the predicted protein]. Wang Z, et al. Zhonghua Gan Zang Bing Za Zhi, 2002 Feb. PMID 11856496
    3. Molecular cloning and characterization of a novel gene which is highly expressed in hepatocellular carcinoma. Zeng JZ, et al. Oncogene, 2002 Jul 25. PMID 12118372
    4. Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease. Raggio V, et al. Hum Genomics, 2021 May 10. PMID 33971976, Free PMC Article
    5. Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. Rath M, et al. Am J Med Genet A, 2019 Feb. PMID 30556293, Free PMC Article

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ROCK1 mechano-signaling dependency of human malignancies driven by TEAD/YAP activation.
      Title: ROCK1 mechano-signaling dependency of human malignancies driven by TEAD/YAP activation.
    2. Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.
      Title: Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease.
    3. KAT6A is associated with sorafenib resistance and contributes to progression of hepatocellular carcinoma by targeting YAP.
      Title: KAT6A is associated with sorafenib resistance and contributes to progression of hepatocellular carcinoma by targeting YAP.
    4. CUL4A promotes proliferation and inhibits apoptosis of colon cancer cells via regulating Hippo pathway.
      Title: CUL4A promotes proliferation and inhibits apoptosis of colon cancer cells via regulating Hippo pathway.
    5. Prostaglandin E2 and its receptor EP2 trigger signaling that contributes to YAP-mediated cell competition.
      Title: Prostaglandin E(2) and its receptor EP2 trigger signaling that contributes to YAP-mediated cell competition.
    6. The results suggest that YAP/TAZ may be modulating cell volume in combination with cytoskeletal tension during cell cycle progression.
      Title: YAP and TAZ regulate cell volume.
    7. This is the first report of biallelic YY1AP1 variants in noncoding regions and just the second family with multiple affected siblings.
      Title: Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.
    8. Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.
      Title: Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.
    9. Study proposed that the overexpression of YAP and TAZ around the human molluscum contagiosum (MC) virus infected skin lesions supports the hypothesis that the Hippo signaling pathway plays a key role in the development of MC. It is also conceivable that MCV contributes to the development of an infectious environment by increasing the expression of YAP/TAZ and subsequently inhibiting TBK1.
      Title: Expression of YAP and TAZ in molluscum contagiosum virus infected skin.
    10. Data indicate WW-binding protein 2 (WBP2) as an important co-factor of YY1 associated protein 1 (YAP) that enhances YAP/TEAD-mediated gene transcription.
      Title: A genome-wide screen identifies YAP/WBP2 interplay conferring growth advantage on human epidermal stem cells.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Grange syndrome
    MedGen: C1865267 OMIM: 602531 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10875, FLJ13914

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Ino80 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    YY1-associated protein 1
    Names
    hepatocellular carcinoma susceptibility protein
    hepatocellular carcinoma-associated protein 2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001198899.2 → NP_001185828.1  YY1-associated protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001185828.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks 5' two exons but has an alternate 5' segment, resulting in a downstream AUG start codon, as compared to variant 10. The resulting isoform (1) has a shorter N-terminus, as compared to isoform 6. Variants 1, 6 and 7 encode the same isoform 1.
      Source sequence(s)
      AK303386, BC014906, DC346197
      UniProtKB/TrEMBL
      I6L9C2
      Conserved Domains (1) summary
      PRK10263
      Location:407 → 615
      PRK10263; DNA translocase FtsK; Provisional

    2. NM_001198900.2 → NP_001185829.1  YY1-associated protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001185829.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has an alternate 5' sequence, resulting in a downstream AUG start codon, as compared to variant 10. The resulting isoform (1) has a shorter N-terminus, as compared to isoform 6. Variants 1, 6 and 7 encode the same isoform 1.
      Source sequence(s)
      BC003500, BC044887
      UniProtKB/TrEMBL
      I6L9C2
      Related
      ENSP00000352134.5, ENST00000359205.9
      Conserved Domains (1) summary
      PRK10263
      Location:407 → 615
      PRK10263; DNA translocase FtsK; Provisional

    3. NM_001198901.2 → NP_001185830.1  YY1-associated protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001185830.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) has an alternate 5' sequence, resulting in a downstream AUG start codon, as compared to variant 10. The resulting isoform (3) has a shorter N-terminus, as compared to isoform 6. Variants 3, 8 and 9 encode the same isoform 3.
      Source sequence(s)
      AY604179
      Consensus CDS
      CCDS1116.1
      UniProtKB/TrEMBL
      I6L9C2
      Related
      ENSP00000357314.2, ENST00000368330.6
      Conserved Domains (1) summary
      cl26464
      Location:412 → 678
      Atrophin-1; Atrophin-1 family

    4. NM_001198902.2 → NP_001185831.1  YY1-associated protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001185831.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) has an alternate 5' sequence, resulting in a downstream AUG start codon, as compared to variant 10. The resulting isoform (3) has a shorter N-terminus, as compared to isoform 6. Variants 3, 8 and 9 encode the same isoform 3.
      Source sequence(s)
      AF466401, AL162734, BG325066
      Consensus CDS
      CCDS1116.1
      UniProtKB/TrEMBL
      I6L9C2
      Related
      ENSP00000316079.6, ENST00000347088.9
      Conserved Domains (1) summary
      cl26464
      Location:412 → 678
      Atrophin-1; Atrophin-1 family

    5. NM_001198903.1 → NP_001185832.1  YY1-associated protein 1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) encodes the longest isoform (6).
      Source sequence(s)
      AK297562, BC009358, BC025272, DC406177
      Consensus CDS
      CCDS55645.1
      UniProtKB/TrEMBL
      A0AAQ5BIA1
      Related
      ENSP00000357323.5, ENST00000368339.10
      Conserved Domains (1) summary
      PHA03379
      Location:550 → 816
      PHA03379; EBNA-3A; Provisional

    6. NM_001198904.1 → NP_001185833.1  YY1-associated protein 1 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) has an alternate splice site in the CDS, as compared to variant 10. The resulting isoform (7) lacks an internal segment, as compared to isoform 6.
      Source sequence(s)
      BC009358, BC025272, DC406177
      Consensus CDS
      CCDS55644.1
      UniProtKB/TrEMBL
      A0AAQ5BIA1
      Related
      ENSP00000357324.5, ENST00000368340.10
      Conserved Domains (1) summary
      PHA03379
      Location:530 → 796
      PHA03379; EBNA-3A; Provisional

    7. NM_001198905.2 → NP_001185834.1  YY1-associated protein 1 isoform 8

      See identical proteins and their annotated locations for NP_001185834.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) has an alternate 5' sequence, resulting in a downstream AUG start codon, and has an alternate splice site in the middle coding region, as compared to variant 10. The resulting isoform (8) has a shorter N-terminus and lacks an internal segment, as compared to isoform 6.
      Source sequence(s)
      BC008766, BC009358, DC399389
      Consensus CDS
      CCDS55643.1
      UniProtKB/TrEMBL
      A0AAQ5BI56
      Related
      ENSP00000385390.1, ENST00000404643.5
      Conserved Domains (1) summary
      PRK10263
      Location:398 → 606
      PRK10263; DNA translocase FtsK; Provisional

    8. NM_001198906.2 → NP_001185835.1  YY1-associated protein 1 isoform 9

      See identical proteins and their annotated locations for NP_001185835.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) has an alternate 5' sequence and an alternate splice site in the 3' coding region, resulting in frame-shift, as compared to variant 10. The resulting isoform (9) has shorter and distinct N- and C-termini, as compared to isoform 6.
      Source sequence(s)
      AK298904, BC014906
      UniProtKB/TrEMBL
      A0AAQ5BI93, B4DQQ0

    9. NM_018253.4 → NP_060723.2  YY1-associated protein 1 isoform 1

      See identical proteins and their annotated locations for NP_060723.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has an alternate 5' sequence and an additional exon in the 5' region, resulting in a downstream AUG start codon, as compared to variant 10. The resulting isoform (1) has a shorter N-terminus, as compared to isoform 6. Variants 1, 6 and 7 encode the same isoform 1.
      Source sequence(s)
      BC001655, BC014906, DC399389
      UniProtKB/TrEMBL
      I6L9C2
      Related
      ENSP00000355298.5, ENST00000361831.9
      Conserved Domains (1) summary
      PRK10263
      Location:407 → 615
      PRK10263; DNA translocase FtsK; Provisional

    10. NM_139118.3 → NP_620829.1  YY1-associated protein 1 isoform 2

      See identical proteins and their annotated locations for NP_620829.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' sequence and an alternate splice site in the middle coding region, as compared to variant 10. The resulting isoform (2) has a shorter and distinct N-terminus and lacks an internal segment, as compared to isoform 6.
      Source sequence(s)
      BC008766, BC014906, DC388975
      Consensus CDS
      CCDS1115.1
      UniProtKB/Swiss-Prot
      B0QZ54, B4DMP2, B4E0I0, D3DV96, D3DV98, H7BY62, Q5VYZ1, Q5VYZ4, Q5VYZ7, Q7L4C3, Q7L5E2, Q8IXA6, Q8TEW5, Q8TF04, Q96HB6, Q9BQ64, Q9H869, Q9NV84
      UniProtKB/TrEMBL
      A0AAQ5BIA1
      Related
      ENSP00000295566.4, ENST00000295566.8
      Conserved Domains (1) summary
      PRK10263
      Location:464 → 672
      PRK10263; DNA translocase FtsK; Provisional

    11. NM_139119.3 → NP_620830.1  YY1-associated protein 1 isoform 3

      See identical proteins and their annotated locations for NP_620830.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' sequence, resulting in a downstream AUG start codon, as compared to variant 10. The resulting isoform (3) has a shorter N-terminus, as compared to isoform 6. Variants 3, 8 and 9 encode the same isoform 3.
      Source sequence(s)
      BC014906, BC044887
      Consensus CDS
      CCDS1116.1
      UniProtKB/TrEMBL
      I6L9C2
      Related
      ENSP00000347686.4, ENST00000355499.9
      Conserved Domains (1) summary
      cl26464
      Location:412 → 678
      Atrophin-1; Atrophin-1 family

    12. NM_139121.3 → NP_620832.1  YY1-associated protein 1 isoform 5

      See identical proteins and their annotated locations for NP_620832.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has alternate 5' sequence and an additional exon in the 5' region, resulting in a downstream AUG start codon, as compared to variant 10. The resulting isoform (5) has a shorter N-terminus, as compared to isoform 6.
      Source sequence(s)
      AL162734, BC003500
      UniProtKB/TrEMBL
      I6L9C2
      Conserved Domains (1) summary
      PHA03379
      Location:346 → 612
      PHA03379; EBNA-3A; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155659442..155688996 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154798015..154827559 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139120.1: Suppressed sequence

      Description
      NM_139120.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H869.2 GenPept UniProtKB/Swiss-Prot:Q9H869

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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