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    WIPF3 WAS/WASL interacting protein family member 3 [ Homo sapiens (human) ]

    Gene ID: 644150, updated on 2-Nov-2024

    Summary

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    Official Symbol
    WIPF3provided by HGNC
    Official Full Name
    WAS/WASL interacting protein family member 3provided by HGNC
    Primary source
    HGNC:HGNC:22004
    See related
    Ensembl:ENSG00000122574 MIM:612432; AllianceGenome:HGNC:22004
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CR16
    Summary
    Predicted to enable alpha-tubulin binding activity and gamma-tubulin binding activity. Predicted to be involved in Arp2/3 complex-mediated actin nucleation; endosomal transport; and exocytosis. Predicted to be located in cytosol. Predicted to be part of WASH complex. Predicted to be active in early endosome; recycling endosome; and synapse. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in ovary (RPKM 20.0), testis (RPKM 14.2) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WIPF3 in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (29806508..29917061)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (29944291..30054757)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (29846124..29956677)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene MIR550A3 host gene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18048 Neighboring gene DPY19L2 pseudogene 3 Neighboring gene microRNA 550a-3 Neighboring gene zinc and ring finger 2 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 13440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:29823644-29824238 Neighboring gene hESC enhancers GRCh37_chr7:29832406-29833236 and GRCh37_chr7:29833237-29834066 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:29845860-29846769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25802 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:29894186-29894764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29922848-29923743 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:29930193-29930732 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29968955-29969454 Neighboring gene secernin 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:30000281-30001070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18052 Neighboring gene FKBP14 antisense RNA 1 Neighboring gene FKBP prolyl isomerase 14

    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. [Expression of CR16 in the testis of patients with idiopathic azoospermia]. Wen ZN, et al. Zhonghua Nan Ke Xue, 2010 Dec. PMID 21348202
    2. CR16 forms a complex with N-WASP in brain and is a novel member of a conserved proline-rich actin-binding protein family. Ho HY, et al. Proc Natl Acad Sci U S A, 2001 Sep 25. PMID 11553796, Free PMC Article
    3. Identification of ARMH4 and WIPF3 as human podocyte proteins with potential roles in immunomodulation and cytoskeletal dynamics. De Luca F, et al. PLoS One, 2023. PMID 36649229, Free PMC Article
    4. The WH1 and EVH1 domains of WASP and Ena/VASP family members bind distinct sequence motifs. Zettl M, et al. Curr Biol, 2002 Sep 17. PMID 12372256
    5. Male-specific sterility caused by the loss of CR16. Suetsugu S, et al. Genes Cells, 2007 Jun. PMID 17573773

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of ARMH4 and WIPF3 as human podocyte proteins with potential roles in immunomodulation and cytoskeletal dynamics.
      Title: Identification of ARMH4 and WIPF3 as human podocyte proteins with potential roles in immunomodulation and cytoskeletal dynamics.
    2. These findings provide the basis for further functional investigations of the ITSN/CR16 complex that may play an important role in actin remodeling and cellular invasion.
      Title: Mammalian verprolin CR16 acts as a modulator of ITSN scaffold proteins association with actin.
    3. The expressions of the CR16 protein and mRNA decrease markedly in the testis of patients with idiopathic azoospermia.
      Title: [Expression of CR16 in the testis of patients with idiopathic azoospermia].
    4. CR16 and N-WASP are suggested to play important roles in spermatogenesis
      Title: Male-specific sterility caused by the loss of CR16.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genetic variants near PDGFRA are associated with corneal curvature in Australians.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36931

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables alpha-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables gamma-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Arp2/3 complex-mediated actin nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endocytic recycling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of WASH complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    WAS/WASL-interacting protein family member 3
    Names
    corticosteroids and regional expression protein 16 homolog

    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.

    mRNA and Protein(s)

    1. NM_001080529.3 → NP_001073998.2  WAS/WASL-interacting protein family member 3 isoform 1

      See identical proteins and their annotated locations for NP_001073998.2

      Status: VALIDATED

      Source sequence(s)
      AC004912, AW105171, BX107905
      Consensus CDS
      CCDS56472.1
      UniProtKB/Swiss-Prot
      A6NGB9, B8ZZV2
      Related
      ENSP00000242140.6, ENST00000242140.10
      Conserved Domains (1) summary
      pfam02205
      Location:42 → 69
      WH2; WH2 motif

    2. NM_001391973.1 → NP_001378902.1  WAS/WASL-interacting protein family member 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC004912
      Consensus CDS
      CCDS94074.1
      UniProtKB/TrEMBL
      A0A0A0MSG0
      Related
      ENSP00000386790.1, ENST00000409123.5
      Conserved Domains (1) summary
      cd22077
      Location:42 → 71
      WH2_WAS_WASL-2_3; Wiskott Aldrich syndrome homology region 2 (WH2 motif) in WAS/WASL-interacting protein (WIP) family members 2 and 3

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      29806508..29917061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012522.2 → XP_016868011.1  WAS/WASL-interacting protein family member 3 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      29944291..30054757
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358802.1 → XP_054214777.1  WAS/WASL-interacting protein family member 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NGB9.4 GenPept UniProtKB/Swiss-Prot:A6NGB9

    Gene LinkOut

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

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