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    WBP1L WW domain binding protein 1 like [ Homo sapiens (human) ]

    Gene ID: 54838, updated on 27-Dec-2024

    Summary

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    Official Symbol
    WBP1Lprovided by HGNC
    Official Full Name
    WW domain binding protein 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:23510
    See related
    Ensembl:ENSG00000166272 MIM:611129; AllianceGenome:HGNC:23510
    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
    OPA1L; OPAL1; C10orf26
    Summary
    Predicted to enable ubiquitin protein ligase binding activity. Predicted to be involved in CXCL12-activated CXCR4 signaling pathway. Predicted to act upstream of or within hemopoiesis and positive regulation of protein ubiquitination. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 20.1), adrenal (RPKM 15.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WBP1L in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102743948..102816262)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103629750..103702045)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104503705..104576019)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104433562-104434111 Neighboring gene ARF like GTPase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104474219-104474795 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104474796-104475371 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104488530-104489304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104489305-104490077 Neighboring gene sideroflexin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3948 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3949 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104534833-104535364 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104535897-104536428 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:104536429-104536960 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104540708-104541208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104541209-104541709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3950 Neighboring gene RNA, U6 small nuclear 1231, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104575177-104575710 Neighboring gene CYP17A1 antisense RNA 1 Neighboring gene CYP17A1 promoter Neighboring gene cytochrome P450 family 17 subfamily A member 1 Neighboring gene profilin 1 pseudogene 11

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Evaluation of the relationships of the WBP1L gene with schizophrenia and the general psychopathology scale based on a case-control study. Guan F, et al. Am J Med Genet B Neuropsychiatr Genet, 2020 Apr. PMID 31840934
    2. Detection of Putative Functional Single Nucleotide Polymorphisms in Blood Pressure Loci and Validation of Association Between Single Nucleotide Polymorphism in WBP1L and Hypertension in the Chinese Han Population. Zhang H, et al. J Cardiovasc Pharmacol, 2019 Jan. PMID 30422892
    3. Expression of the outcome predictor in acute leukemia 1 (OPAL1) gene is not an independent prognostic factor in patients treated according to COALL or St Jude protocols. Holleman A, et al. Blood, 2006 Sep 15. PMID 16709928, Free PMC Article
    4. Expression profiling and characterization of 4200 genes cloned from primary neuroblastomas: identification of 305 genes differentially expressed between favorable and unfavorable subsets. Ohira M, et al. Oncogene, 2003 Aug 21. PMID 12934113
    5. Unexpected diversity in Shisa-like proteins suggests the importance of their roles as transmembrane adaptors. Pei J, et al. Cell Signal, 2012 Mar. PMID 22120523, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Evaluation of the relationships of the WBP1L gene with schizophrenia and the general psychopathology scale based on a case-control study.
      Title: Evaluation of the relationships of the WBP1L gene with schizophrenia and the general psychopathology scale based on a case-control study.
    2. WBP1L SNP rs176185 may be associated with hypertension in the Chinese Han population.
      Title: Detection of Putative Functional Single Nucleotide Polymorphisms in Blood Pressure Loci and Validation of Association Between Single Nucleotide Polymorphism in WBP1L and Hypertension in the Chinese Han Population.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    4. OPAL1 expression may not be an independent prognostic feature in childhood ALL, and its previously reported prognostic impact appears to be treatment dependent.
      Title: Expression of the outcome predictor in acute leukemia 1 (OPAL1) gene is not an independent prognostic factor in patients treated according to COALL or St Jude protocols.
    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20154, FLJ20367, MGC125648

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in CXCL12-activated CXCR4 signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    WW domain binding protein 1-like
    Names
    outcome predictor in acute leukemia 1

    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_001083913.2 → NP_001077382.1  WW domain binding protein 1-like isoform 1 precursor

      See identical proteins and their annotated locations for NP_001077382.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL358790, AL391121, AY656171, CX163170
      Consensus CDS
      CCDS44473.1
      UniProtKB/Swiss-Prot
      Q9NX94
      Related
      ENSP00000414721.1, ENST00000448841.7
      Conserved Domains (2) summary
      pfam11669
      Location:43 → 144
      WBP-1; WW domain-binding protein 1
      PHA03249
      Location:159 → 280
      PHA03249; DNA packaging tegument protein UL25; Provisional

    2. NM_017787.5 → NP_060257.4  WW domain binding protein 1-like isoform 2

      See identical proteins and their annotated locations for NP_060257.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate exon at its 5' end, compared to variant 1, resulting in a unique 5' UTR and use of a distinct translation initiation codon, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
      Source sequence(s)
      AL358790, AY656171, DA797839
      Consensus CDS
      CCDS7540.1
      UniProtKB/Swiss-Prot
      B3KPF4, B7Z6S7, D3DR90, Q1EG70, Q2HIY7, Q5F2G6, Q9NX94
      Related
      ENSP00000358905.4, ENST00000369889.5
      Conserved Domains (2) summary
      pfam11669
      Location:22 → 123
      WBP-1; WW domain-binding protein 1
      PHA03249
      Location:138 → 259
      PHA03249; DNA packaging tegument protein UL25; Provisional

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      102743948..102816262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539913.3 → XP_011538215.1  WW domain binding protein 1-like isoform X1

      Conserved Domains (2) summary
      pfam11669
      Location:34 → 135
      WBP-1; WW domain-binding protein 1
      PHA03249
      Location:150 → 271
      PHA03249; DNA packaging tegument protein UL25; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      103629750..103702045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366165.1 → XP_054222140.1  WW domain binding protein 1-like isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NX94.2 GenPept UniProtKB/Swiss-Prot:Q9NX94

    Gene LinkOut

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

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