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WIPF1 WAS/WASL interacting protein family member 1 [ Homo sapiens (human) ]

Gene ID: 7456, updated on 2-Nov-2024

Summary

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Official Symbol
WIPF1provided by HGNC
Official Full Name
WAS/WASL interacting protein family member 1provided by HGNC
Primary source
HGNC:HGNC:12736
See related
Ensembl:ENSG00000115935 MIM:602357; AllianceGenome:HGNC:12736
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
WIP; WAS2; PRPL-2; WASPIP
Summary
This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in lymph node (RPKM 61.9), appendix (RPKM 50.1) and 23 other tissues See more
Orthologs
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Genomic context

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See WIPF1 in Genome Data Viewer
Location:
2q31.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (174559574..174682913, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (175048279..175171613, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (175424302..175547641, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906097 Neighboring gene uncharacterized LOC124906096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16775 Neighboring gene RNA, U6 small nuclear 5, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12127 Neighboring gene RNA, U7 small nuclear 44 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16776 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:175469433-175469934 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:175469935-175470434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16784 Neighboring gene uncharacterized LOC124907907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12129 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:175578156-175578368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:175594551-175595290 Neighboring gene H3 histone pseudogene 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12130 Neighboring gene Sharpr-MPRA regulatory region 14969 Neighboring gene cholinergic receptor nicotinic alpha 1 subunit

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Formation of a WIP-, WASp-, actin-, and myosin IIA-containing multiprotein complex in activated NK cells and its alteration by KIR inhibitory signaling. Krzewski K, et al. J Cell Biol, 2006 Apr 10. PMID 16606694, Free PMC Article
  2. Crosstalk between WIP and Rho family GTPases. Antón IM, et al. Small GTPases, 2020 May. PMID 29172947, Free PMC Article
  3. Hematopoietic stem cell transplantation corrects WIP deficiency. Al-Mousa H, et al. J Allergy Clin Immunol, 2017 Mar. PMID 27742395
  4. WIP is essential for lytic granule polarization and NK cell cytotoxicity. Krzewski K, et al. Proc Natl Acad Sci U S A, 2008 Feb 19. PMID 18258743, Free PMC Article
  5. WASP-interacting protein (WIP): working in polymerisation and much more. Antón IM, et al. Trends Cell Biol, 2007 Nov. PMID 17949983

See all (88) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DNA Methylation-Mediated Modulation of Endocytosis as Potential Mechanism for Synaptic Function Regulation in Murine Inhibitory Cortical Interneurons.
    Title: DNA Methylation-Mediated Modulation of Endocytosis as Potential Mechanism for Synaptic Function Regulation in Murine Inhibitory Cortical Interneurons.
  2. Crosstalk between WIP and Rho family GTPases.
    Title: Crosstalk between WIP and Rho family GTPases.
  3. PD-L1 promotes tumor growth and progression by activating WIP and beta-catenin signaling pathways and predicts poor prognosis in lung cancer.
    Title: PD-L1 promotes tumor growth and progression by activating WIP and β-catenin signaling pathways and predicts poor prognosis in lung cancer.
  4. The Disordered Cellular Multi-Tasker WIP and Its Protein-Protein Interactions: A Structural View.
    Title: The Disordered Cellular Multi-Tasker WIP and Its Protein-Protein Interactions: A Structural View.
  5. Authors identified WIPF1 as an oncoprotein in PDAC and a direct target of miR-141/miR-200c. They also defined the miR-141/200c-WIPF1-YAP/TAZ as a novel signaling pathway that is involved in the regulation of the invasion and metastasis of human PDAC cells.
    Title: WIPF1 antagonizes the tumor suppressive effect of miR-141/200c and is associated with poor survival in patients with PDAC.
  6. WIP deficiency should be considered as a cause for autosomal-recessive immunodeficiency
    Title: Hematopoietic stem cell transplantation corrects WIP deficiency.
  7. WIP residues 454-456 are the major contributor to WASp affinity, and residues 449-451 were found to have the largest effect upon WASp ubiquitylation and, presumably, degradation.
    Title: New Structural Insights into Formation of the Key Actin Regulating WIP-WASp Complex Determined by NMR and Molecular Imaging.
  8. the present study identifies the WIPF1 gene as having novel oncogenic functions and playing an important role in the invasiveness and aggressiveness of thyroid cancer when aberrantly up-regulated by the BRAF V600E/MAPK pathway through its promoter demethylation.
    Title: Epigenetically upregulated WIPF1 plays a major role in BRAF V600E-promoted papillary thyroid cancer aggressiveness.
  9. WIP controls tumor growth by boosting signals that stabilize the YAP/TAZ complex via a mechanism mediated by the endocytic/endosomal system.
    Title: WIP Drives Tumor Progression through YAP/TAZ-Dependent Autonomous Cell Growth.
  10. Results suggest that local invasiveness of ameloblastoma is dependent upon the migratory potential of its tumour cells as defined by their distribution of cortactin, N-WASP and WIP in correlation with F-actin cytoskeletal dynamics.
    Title: Invadopodia proteins, cortactin, N-WASP and WIP differentially promote local invasiveness in ameloblastoma.
Submit: New GeneRIF Correction See all GeneRIFs (31)

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
Wiskott-Aldrich syndrome 2
MedGen: C3281001 OMIM: 614493 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

  • MGC111041

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SH3 domain binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables profilin binding TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein folding chaperone EXP
Inferred from Experiment
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament-based movement IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actin polymerization or depolymerization TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein folding IEA
Inferred from Electronic Annotation
more info
  
involved_in protein-containing complex assembly TAS
Traceable Author Statement
more info
 PubMed 
involved_in response to other organism IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in actin cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
is_active_in actin filament IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in ruffle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
WAS/WASL-interacting protein family member 1
Names
WASP-interacting protein
Wiskott-Aldrich syndrome protein interacting protein
protein PRPL-2
testicular tissue protein Li 226

NCBI Reference Sequences (RefSeq)

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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_032009.1 RefSeqGene

    Range
    5001..128326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_374

mRNA and Protein(s)

  1. NM_001077269.1 → NP_001070737.1  WAS/WASL-interacting protein family member 1 isoform a

    See identical proteins and their annotated locations for NP_001070737.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), as well as variants 1 and 3-5, encodes isoform a.
    Source sequence(s)
    AA903457, AL529597, AL832275, BC002914, BC045584, BC110288, BM475558, BX640870
    Consensus CDS
    CCDS2260.1
    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9, A0A8V8TNJ8
    Related
    ENSP00000352802.3, ENST00000359761.7
    Conserved Domains (1) summary
    pfam02205
    Location:31 → 55
    WH2; WH2 motif

  2. NM_001375832.1 → NP_001362761.1  WAS/WASL-interacting protein family member 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variants 1, 2, 4, and 5, encodes isoform a.
    Source sequence(s)
    AC010894
    Consensus CDS
    CCDS2260.1
    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9, A0A8V8TNJ8
    Conserved Domains (1) summary
    pfam02205
    Location:31 → 55
    WH2; WH2 motif

  3. NM_001375833.1 → NP_001362762.1  WAS/WASL-interacting protein family member 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1-3 and 5, encodes isoform a.
    Source sequence(s)
    AC010894
    Consensus CDS
    CCDS2260.1
    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9, A0A8V8TNJ8
    Related
    ENSP00000513882.1, ENST00000698701.1
    Conserved Domains (1) summary
    pfam02205
    Location:31 → 55
    WH2; WH2 motif

  4. NM_001375834.1 → NP_001362763.1  WAS/WASL-interacting protein family member 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1-4, encodes isoform a.
    Source sequence(s)
    AC010894
    Consensus CDS
    CCDS2260.1
    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9, A0A8V8TNJ8
    Related
    ENSP00000503603.1, ENST00000679041.1
    Conserved Domains (1) summary
    pfam02205
    Location:31 → 55
    WH2; WH2 motif

  5. NM_001375835.1 → NP_001362764.1  WAS/WASL-interacting protein family member 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) encodes the longest isoform (b).
    Source sequence(s)
    AC010894, AC104595
    Consensus CDS
    CCDS92901.1
    UniProtKB/TrEMBL
    A0A8V8TNJ8
    Related
    ENSP00000272746.5, ENST00000272746.9
    Conserved Domains (1) summary
    pfam02205
    Location:31 → 55
    WH2; WH2 motif

  6. NM_001375836.1 → NP_001362765.1  WAS/WASL-interacting protein family member 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variants 8 and 9, encodes isoform c.
    Source sequence(s)
    AC010894, AC104595
    Consensus CDS
    CCDS92900.1
    UniProtKB/TrEMBL
    B4E2B2, E9PB87
    Related
    ENSP00000387150.3, ENST00000409415.7
    Conserved Domains (1) summary
    cd22076
    Location:29 → 60
    WH2_WAS_WASL-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) in WAS/WASL-interacting protein family member 1

  7. NM_001375837.1 → NP_001362766.1  WAS/WASL-interacting protein family member 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variants 7 and 9, encodes isoform c.
    Source sequence(s)
    AC010894
    Consensus CDS
    CCDS92900.1
    UniProtKB/TrEMBL
    B4E2B2, E9PB87
    Conserved Domains (1) summary
    cd22076
    Location:29 → 60
    WH2_WAS_WASL-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) in WAS/WASL-interacting protein family member 1

  8. NM_001375838.1 → NP_001362767.1  WAS/WASL-interacting protein family member 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 7 and 8, encodes isoform c.
    Source sequence(s)
    AC010894
    Consensus CDS
    CCDS92900.1
    UniProtKB/TrEMBL
    B4E2B2, E9PB87
    Conserved Domains (1) summary
    cd22076
    Location:29 → 60
    WH2_WAS_WASL-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) in WAS/WASL-interacting protein family member 1

  9. NM_001375839.1 → NP_001362768.1  WAS/WASL-interacting protein family member 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC010894

  10. NM_003387.5 → NP_003378.3  WAS/WASL-interacting protein family member 1 isoform a

    See identical proteins and their annotated locations for NP_003378.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), as well as variants 2-5, encodes isoform a.
    Source sequence(s)
    AC010894
    Consensus CDS
    CCDS2260.1
    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9, A0A8V8TNJ8
    Related
    ENSP00000376330.2, ENST00000392547.6
    Conserved Domains (1) summary
    pfam02205
    Location:31 → 55
    WH2; WH2 motif

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    174559574..174682913 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445756.1 → XP_047301712.1  WAS/WASL-interacting protein family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9

  2. XM_047445755.1 → XP_047301711.1  WAS/WASL-interacting protein family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9

  3. XM_047445749.1 → XP_047301705.1  WAS/WASL-interacting protein family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9

  4. XM_047445754.1 → XP_047301710.1  WAS/WASL-interacting protein family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9

  5. XM_047445753.1 → XP_047301709.1  WAS/WASL-interacting protein family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9

  6. XM_047445757.1 → XP_047301713.1  WAS/WASL-interacting protein family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9

  7. XM_047445751.1 → XP_047301707.1  WAS/WASL-interacting protein family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9

  8. XM_047445752.1 → XP_047301708.1  WAS/WASL-interacting protein family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9

  9. XM_047445750.1 → XP_047301706.1  WAS/WASL-interacting protein family member 1 isoform X1

    UniProtKB/Swiss-Prot
    B8ZZM1, D3DPE4, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1
    UniProtKB/TrEMBL
    A0A140VJZ9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    175048279..175171613 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343767.1 → XP_054199742.1  WAS/WASL-interacting protein family member 1 isoform X1

  2. XM_054343766.1 → XP_054199741.1  WAS/WASL-interacting protein family member 1 isoform X1

  3. XM_054343759.1 → XP_054199734.1  WAS/WASL-interacting protein family member 1 isoform X1

  4. XM_054343765.1 → XP_054199740.1  WAS/WASL-interacting protein family member 1 isoform X1

  5. XM_054343764.1 → XP_054199739.1  WAS/WASL-interacting protein family member 1 isoform X1

  6. XM_054343768.1 → XP_054199743.1  WAS/WASL-interacting protein family member 1 isoform X1

  7. XM_054343762.1 → XP_054199737.1  WAS/WASL-interacting protein family member 1 isoform X1

  8. XM_054343763.1 → XP_054199738.1  WAS/WASL-interacting protein family member 1 isoform X1

  9. XM_054343760.1 → XP_054199735.1  WAS/WASL-interacting protein family member 1 isoform X1

  10. XM_054343761.1 → XP_054199736.1  WAS/WASL-interacting protein family member 1 isoform X1

  11. XM_054343758.1 → XP_054199733.1  WAS/WASL-interacting protein family member 1 isoform X1

  12. XM_054343770.1 → XP_054199745.1  WAS/WASL-interacting protein family member 1 isoform X2

    UniProtKB/TrEMBL
    Q2YDC4

  13. XM_054343769.1 → XP_054199744.1  WAS/WASL-interacting protein family member 1 isoform X2

    UniProtKB/TrEMBL
    Q2YDC4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43516.3 GenPept UniProtKB/Swiss-Prot:O43516

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