U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 55249, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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 fibrillar center and nucleoplasm. Colocalizes with Ino80 complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 35.6), bone marrow (RPKM 27.3) and 25 other tissues See more
Orthologs
all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See YY1AP1 in Genome Data Viewer
Location:
1q22
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155659442..155688996, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154798015..154827559, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. 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
  2. Prostaglandin E(2) and its receptor EP2 trigger signaling that contributes to YAP-mediated cell competition. Ishihara E, et al. Genes Cells, 2020 Mar. PMID 31989743, Free PMC Article
  3. Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1. Saida K, et al. J Hum Genet, 2019 Sep. PMID 31270375
  4. 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
  5. 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

See all (46) 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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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 
enables transcription coregulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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 DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
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 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
YY1-associated protein 1
Names
hepatocellular carcinoma susceptibility protein
hepatocellular carcinoma-associated protein 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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
    I6L9C2
    Related
    ENSP00000357323.5, ENST00000368339.9
    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
    I6L9C2
    Related
    ENSP00000357324.5, ENST00000368340.9
    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
    I6L9C2
    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
    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
    I6L9C2
    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_2023_10

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.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous