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

Gene ID: 54838, updated on 5-Mar-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 act upstream of or within CXCL12-activated CXCR4 signaling pathway; hemopoiesis; and positive regulation of protein ubiquitination. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 20.1), adrenal (RPKM 15.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
10q24.32
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102743948..102816262)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103629750..103702045)
105.20220307 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 ADP ribosylation factor 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: 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. 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. 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
  5. 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

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)

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

  • 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 IEA
Inferred from Electronic Annotation
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_2023_10

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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