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

Gene ID: 10413, updated on 29-Nov-2020

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
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; 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

Genomic context

See YAP1 in Genome Data Viewer
Location:
11q22.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (102109957..102233424)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (101981151..102104154)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene centrosomal protein 126 Neighboring gene proline rich 21 pseudogene Neighboring gene cilia and flagella associated protein 300 Neighboring gene RNA, 5S ribosomal pseudogene 535 Neighboring gene uncharacterized LOC105369460 Neighboring gene ribosomal protein S6 pseudogene 17

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
MedGen: C3805432 OMIM: 120433 GeneReviews: Not available
not available
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
GeneReviews: Not available
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
GeneReviews: Not available
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
GeneReviews: Not available
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
proline-rich region binding IEA
Inferred from Electronic Annotation
more info
 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
bud elongation involved in lung branching IEA
Inferred from Electronic Annotation
more info
 
cardiac muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to gamma radiation IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
contact inhibition IDA
Inferred from Direct Assay
more info
PubMed 
embryonic heart tube morphogenesis IEA
Inferred from Electronic Annotation
more info
 
heart process IEA
Inferred from Electronic Annotation
more info
 
hippo signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hippo signaling TAS
Traceable Author Statement
more info
PubMed 
interleukin-6-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
intestinal epithelial cell development IDA
Inferred from Direct Assay
more info
PubMed 
keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
lateral mesoderm development IEA
Inferred from Electronic Annotation
more info
 
lung epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of extrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of fat cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of stem cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
notochord development IEA
Inferred from Electronic Annotation
more info
 
paraxial mesoderm development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cardiac muscle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of intracellular estrogen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein localization to nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
progesterone receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of hematopoietic stem cell differentiation TAS
Traceable Author Statement
more info
 
regulation of keratinocyte proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of metanephric nephron tubule epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of neurogenesis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of stem cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
response to progesterone IDA
Inferred from Direct Assay
more info
PubMed 
somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
tissue homeostasis IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
vasculogenesis IEA
Inferred from Electronic Annotation
more info
 
wound healing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
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)

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
    P46937
    UniProtKB/TrEMBL
    Q86T74
    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 (3) 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
    pfam15238
    Location:76158
    FAM181
  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/Swiss-Prot
    P46937
    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
    UniProtKB/Swiss-Prot
    P46937
    UniProtKB/TrEMBL
    A0A024R3E4, Q86T74
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    102109957..102233424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271378.3XP_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_005271380.3XP_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
  3. XM_005271383.3XP_005271440.1  transcriptional coactivator YAP1 isoform X4

    See identical proteins and their annotated locations for XP_005271440.1

    Conserved Domains (3) 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
    pfam15238
    Location:76158
    FAM181
  4. XM_005271381.3XP_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
  5. XM_011542556.2XP_011540858.1  transcriptional coactivator YAP1 isoform X6

    See identical proteins and their annotated locations for XP_011540858.1

    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 ...
  6. XM_017017093.1XP_016872582.1  transcriptional coactivator YAP1 isoform X7

    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 ...
  7. XM_011542555.2XP_011540857.1  transcriptional coactivator YAP1 isoform X5

    See identical proteins and their annotated locations for XP_011540857.1

    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 ...
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