U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    YAP1 Yes1 associated transcriptional regulator [ Homo sapiens (human) ]

    Gene ID: 10413, updated on 14-Nov-2024

    Summary

    Official Symbol
    YAP1provided by HGNC
    Official Full Name
    Yes1 associated transcriptional regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:16262
    See related
    Ensembl:ENSG00000137693 MIM:606608; AllianceGenome:HGNC:16262
    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
    YAP; YKI; COB1; YAP2; YAP-1; YAP65
    Summary
    This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013]
    Expression
    Ubiquitous expression in thyroid (RPKM 45.0), endometrium (RPKM 38.7) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See YAP1 in Genome Data Viewer
    Location:
    11q22.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (102110447..102233424)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (102112538..102235509)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (101981178..102104155)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene cilia and flagella associated protein 300 Neighboring gene RNA, 5S ribosomal pseudogene 535 Neighboring gene NANOG hESC enhancer GRCh37_chr11:101956512-101957013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3859 Neighboring gene Sharpr-MPRA regulatory region 8516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:102131708-102132212 Neighboring gene uncharacterized LOC105369460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3860 Neighboring gene ribosomal protein S6 pseudogene 17

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Uveal coloboma-cleft lip and palate-intellectual disability
    MedGen: C3805432 OMIM: 120433 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2014-11-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2014-11-13)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
    EBI GWAS Catalog
    Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
    EBI GWAS Catalog
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Items 1 - 25 of 59
    Process Evidence Code Pubs
    involved_in DNA damage response PubMed 
    involved_in bud elongation involved in lung branching  
    involved_in canonical Wnt signaling pathway  
    involved_in cardiac muscle tissue regeneration  
    involved_in cell morphogenesis  
    involved_in cellular response to gamma radiation PubMed 
    involved_in cellular response to retinoic acid  
    involved_in embryonic heart tube morphogenesis  
    involved_in enterocyte differentiation  
    involved_in epithelial cell proliferation  
    involved_in extrinsic apoptotic signaling pathway  
    involved_in glandular epithelial cell differentiation  
    involved_in heart process  
    involved_in hippo signaling  
    involved_in hippo signaling PubMed 
    involved_in hippo signaling PubMed 
    involved_in hippo signaling PubMed 
    involved_in interleukin-6-mediated signaling pathway  
    involved_in intestinal epithelial cell development  
    involved_in keratinocyte differentiation  
    involved_in lateral mesoderm development  
    involved_in lung epithelial cell differentiation  
    involved_in negative regulation of cilium assembly PubMed 
    involved_in negative regulation of epithelial cell apoptotic process PubMed 
    involved_in negative regulation of epithelial cell differentiation  
    involved_in negative regulation of extrinsic apoptotic signaling pathway  
    involved_in negative regulation of fat cell differentiation PubMed 
    involved_in negative regulation of gene expression PubMed 
    involved_in negative regulation of stem cell differentiation  
    involved_in negative regulation of transcription by RNA polymerase II PubMed 
    involved_in notochord development  
    involved_in organ growth  
    involved_in paraxial mesoderm development  
    involved_in polarized epithelial cell differentiation PubMed 
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of DNA-templated transcription PubMed 
    involved_in positive regulation of Notch signaling pathway  
    involved_in positive regulation of canonical Wnt signaling pathway  
    involved_in positive regulation of cardiac muscle cell proliferation  
    involved_in positive regulation of cell growth PubMed 
    involved_in positive regulation of epithelial cell proliferation PubMed 
    involved_in positive regulation of gene expression PubMed 
    involved_in positive regulation of osteoblast differentiation PubMed 
    involved_in positive regulation of protein localization to nucleus  
    involved_in positive regulation of stem cell population maintenance  
    involved_in positive regulation of transcription by RNA polymerase II  
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in protein-containing complex assembly PubMed 
    involved_in protein-containing complex assembly PubMed 
    involved_in regulation of keratinocyte proliferation  
    involved_in regulation of metanephric nephron tubule epithelial cell differentiation  
    acts_upstream_of_or_within regulation of neurogenesis PubMed 
    acts_upstream_of_or_within regulation of stem cell proliferation PubMed 
    involved_in response to progesterone PubMed 
    involved_in somatic stem cell population maintenance  
    involved_in tissue homeostasis  
    involved_in trophectodermal cell differentiation  
    involved_in vasculogenesis  
    involved_in wound healing  
    Items 1 - 25 of 59
    Component Evidence Code Pubs
    part_of TEAD-YAP complex PubMed 
    part_of TEAD-YAP complex PubMed 
    located_in bicellular tight junction  
    located_in cell junction  
    located_in cell-cell junction  
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytosol PubMed 
    located_in cytosol  
    located_in female germ cell nucleus  
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    is_active_in nucleus PubMed 
    located_in nucleus PubMed 
    located_in nucleus  
    located_in plasma membrane PubMed 

    General protein information

    Preferred Names
    transcriptional coactivator YAP1
    Names
    65 kDa Yes-associated protein
    Yes associated protein 1
    protein yorkie homolog
    yes-associated protein 2
    yes-associated protein YAP65 homolog
    yorkie homolog

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_029530.2 RefSeqGene

      Range
      4987..127964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130145.3NP_001123617.1  transcriptional coactivator YAP1 isoform 1

      See identical proteins and their annotated locations for NP_001123617.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 3' coding region, compared to variant 9. The encoded protein (isoform 1) represents the YAP1-2gamma isoform described in Figure 3 of PMID: 22939869. It is shorter, compared to isoform 9.
      Source sequence(s)
      AI128142, AL832620, AP000942, AP001527, BC038235
      Consensus CDS
      CCDS44716.1
      UniProtKB/Swiss-Prot
      B4DTY1, B7ZA01, E3WEB5, E3WEB6, E9PRV2, F5H202, K0KQ18, K0KYZ8, K0L195, K0L1G3, P46937, Q7Z574, Q8IUY9
      Related
      ENSP00000282441.5, ENST00000282441.10
      Conserved Domains (2) summary
      cd00201
      Location:174203
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:232261
      WW; WW domain
    2. NM_001195044.2NP_001181973.1  transcriptional coactivator YAP1 isoform 3

      See identical proteins and their annotated locations for NP_001181973.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site and lacks an alternate exon in the 3' coding region, compared to variant 9. The encoded protein (isoform 3) represents the YAP1-2alpha isoform described in Figure 3 of PMID: 22939869. It is shorter, compared to isoform 9.
      Source sequence(s)
      AI128142, AL832620, AP000942, AP001527, AY316529
      Consensus CDS
      CCDS53699.1
      UniProtKB/Swiss-Prot
      P46937
      UniProtKB/TrEMBL
      Q86T74
      Related
      ENSP00000431574.1, ENST00000531439.5
      Conserved Domains (2) summary
      cd00201
      Location:174203
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:232261
      WW; WW domain
    3. NM_001195045.2NP_001181974.1  transcriptional coactivator YAP1 isoform 4

      See identical proteins and their annotated locations for NP_001181974.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and has multiple differences in the coding region, compared to variant 9. These differences cause translation initiation at a downstream AUG and result in a shorter isoform (4), compared to isoform 9.
      Source sequence(s)
      AA854862, AI128142, AK316116, AL832620, AP000942, BC038235
      Consensus CDS
      CCDS53700.1
      UniProtKB/TrEMBL
      Q86T74
      Related
      ENSP00000435602.1, ENST00000524575.5
      Conserved Domains (2) summary
      cd00201
      Location:125
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:5483
      WW; WW domain
    4. NM_001282097.2NP_001269026.1  transcriptional coactivator YAP1 isoform 6

      See identical proteins and their annotated locations for NP_001269026.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an in-frame exon and uses an alternate in-frame splice site in the coding region, compared to variant 9. The encoded protein (isoform 6) represents the YAP1-1gamma isoform described in Figure 3 of PMID: 22939869. It is shorter, compared to isoform 9.
      Source sequence(s)
      AB567720, AI128142, AL832620, AP000942, AP001527, BC026212
      UniProtKB/Swiss-Prot
      P46937
      UniProtKB/TrEMBL
      Q86T74
      Conserved Domains (1) summary
      cd00201
      Location:174203
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    5. NM_001282098.2NP_001269027.1  transcriptional coactivator YAP1 isoform 5

      See identical proteins and their annotated locations for NP_001269027.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate in-frame exons in the coding region, compared to variant 9. The encoded protein (isoform 5) represents the YAP1-1beta isoform described in Figure 3 of PMID: 22939869. It is shorter, compared to isoform 9.
      Source sequence(s)
      AI128142, AL832620, AP000942, AP001527, BC026212, BC038235, HE864159
      Consensus CDS
      CCDS60945.1
      Related
      ENSP00000487519.1, ENST00000629586.2
      Conserved Domains (1) summary
      cd00201
      Location:174203
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    6. NM_001282099.2NP_001269028.1  transcriptional coactivator YAP1 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate in-frame exon in the coding region, compared to variant 9. The encoded protein (isoform 7) represents the YAP1-1delta isoform described in Figure 3 of PMID: 22939869. It is shorter, compared to isoform 9.
      Source sequence(s)
      AI128142, AL832620, AP000942, AP001527, BC026212, BC038235, HE864161
      Consensus CDS
      CCDS73374.1
      UniProtKB/Swiss-Prot
      P46937
      UniProtKB/TrEMBL
      Q86T74
      Related
      ENSP00000331023.4, ENST00000345877.6
      Conserved Domains (1) summary
      cd00201
      Location:174203
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
    7. NM_001282100.2NP_001269029.1  transcriptional coactivator YAP1 isoform 8

      See identical proteins and their annotated locations for NP_001269029.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks an alternate in-frame exon in the 3' coding region, compared to variant 9. The encoded protein (isoform 8) represents the YAP1-2beta isoform described in Figure 3 of PMID: 22939869. It is shorter, compared to isoform 9.
      Source sequence(s)
      AB567720, AI128142, AL832620, AP000942, AP001527, BC026212, BC038235, HE864162
      Consensus CDS
      CCDS60944.1
      UniProtKB/Swiss-Prot
      P46937
      UniProtKB/TrEMBL
      Q86T74
      Related
      ENSP00000445635.1, ENST00000537274.5
      Conserved Domains (2) summary
      cd00201
      Location:174203
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:232261
      WW; WW domain
    8. NM_001282101.2NP_001269030.1  transcriptional coactivator YAP1 isoform 9

      See identical proteins and their annotated locations for NP_001269030.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) represents the longest transcript and encodes the longest isoform (9). The encoded protein represents the YAP1-2delta isoform described in Figure 3 of PMID: 22939869.
      Source sequence(s)
      AI128142, AL832620, AP000942, AP001527, BC026212, BC038235, HE864163
      Consensus CDS
      CCDS73373.1
      UniProtKB/Swiss-Prot
      P46937
      UniProtKB/TrEMBL
      K0KVU2, Q86T74
      Related
      ENSP00000478927.1, ENST00000615667.4
      Conserved Domains (2) summary
      cd00201
      Location:174203
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:232261
      WW; WW domain
    9. NM_006106.5NP_006097.2  transcriptional coactivator YAP1 isoform 2

      See identical proteins and their annotated locations for NP_006097.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks two alternate exons in the coding region, compared to variant 9. The encoded protein (isoform 2) represents the YAP1-1alpha isoform described in Figure 3 of PMID: 22939869. It is shorter, compared to isoform 9.
      Source sequence(s)
      AI128142, AL832620, AP000942, AP001527, AP002777
      Consensus CDS
      CCDS8314.2
      UniProtKB/TrEMBL
      Q86T74
      Related
      ENSP00000434134.1, ENST00000526343.5
      Conserved Domains (1) summary
      cd00201
      Location:174203
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      102110447..102233424
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005271378.4XP_005271435.1  transcriptional coactivator YAP1 isoform X1

      Conserved Domains (2) summary
      cd00201
      Location:174203
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:232261
      WW; WW domain
    2. XM_005271381.4XP_005271438.1  transcriptional coactivator YAP1 isoform X3

      Conserved Domains (2) summary
      cd00201
      Location:174203
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:232261
      WW; WW domain
    3. XM_005271380.4XP_005271437.1  transcriptional coactivator YAP1 isoform X2

      See identical proteins and their annotated locations for XP_005271437.1

      Conserved Domains (2) summary
      cd00201
      Location:174203
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:232261
      WW; WW domain
    4. XM_005271383.4XP_005271440.1  transcriptional coactivator YAP1 isoform X4

      See identical proteins and their annotated locations for XP_005271440.1

      Conserved Domains (2) summary
      cd00201
      Location:174203
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      pfam00397
      Location:232261
      WW; WW domain
    5. XM_011542555.3XP_011540857.1  transcriptional coactivator YAP1 isoform X5

      See identical proteins and their annotated locations for XP_011540857.1

      UniProtKB/TrEMBL
      Q86T74
      Conserved Domains (2) summary
      smart00456
      Location:5385
      WW; Domain with 2 conserved Trp (W) residues
      cd00201
      Location:125
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      102112538..102235509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367453.1XP_054223428.1  transcriptional coactivator YAP1 isoform X1

    2. XM_054367455.1XP_054223430.1  transcriptional coactivator YAP1 isoform X3

    3. XM_054367454.1XP_054223429.1  transcriptional coactivator YAP1 isoform X2

    4. XM_054367456.1XP_054223431.1  transcriptional coactivator YAP1 isoform X4

    5. XM_054367457.1XP_054223432.1  transcriptional coactivator YAP1 isoform X5

    External link. Please review our privacy policy.