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    NEURL1B neuralized E3 ubiquitin protein ligase 1B [ Homo sapiens (human) ]

    Gene ID: 54492, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NEURL1Bprovided by HGNC
    Official Full Name
    neuralized E3 ubiquitin protein ligase 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:35422
    See related
    Ensembl:ENSG00000214357 MIM:615893; AllianceGenome:HGNC:35422
    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
    neur2; NEURL3; RNF67B; hNeur2
    Summary
    Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in ubiquitin-dependent endocytosis. Located in actin cytoskeleton and cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 15.4), colon (RPKM 11.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NEURL1B in Genome Data Viewer
    Location:
    5q35.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (172641263..172691540)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (173181429..173231748)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (172068266..172118543)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172043624-172044540 Neighboring gene uncharacterized LOC107986478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172049085-172049770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172053253-172053907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172057552-172058052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16623 Neighboring gene translation machinery associated 7 homolog (S. cerevisiae) pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172085818-172086812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23639 Neighboring gene microRNA 5003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172104581-172105165 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:172110180-172110680 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:172110681-172111181 Neighboring gene uncharacterized LOC107986479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172139792-172140399 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172141615-172142220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172153656-172154156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172170835-172171336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172171337-172171836 Neighboring gene heart enhancer 25 Neighboring gene uncharacterized LOC101928093 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23642 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:172194940-172195132 Neighboring gene cyclin Q pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16625 Neighboring gene VISTA enhancer hs1828 Neighboring gene dual specificity phosphatase 1

    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. Neuralized family member NEURL1 is a ubiquitin ligase for the cGMP-specific phosphodiesterase 9A. Taal K, et al. Sci Rep, 2019 May 8. PMID 31068605, Free PMC Article
    2. Neuralized-2: expression in human and rodents and interaction with Delta-like ligands. Rullinkov G, et al. Biochem Biophys Res Commun, 2009 Nov 20. PMID 19723503
    3. Neuralized-2 regulates a Notch ligand in cooperation with Mind bomb-1. Song R, et al. J Biol Chem, 2006 Nov 24. PMID 17003037
    4. Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults. Scannell Bryan M, et al. PLoS One, 2014. PMID 25133637, Free PMC Article
    5. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
    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

    • DKFZp761M1511

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ubiquitin-dependent endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase NEURL1B
    Names
    E3 ubiquitin-protein ligase NEURL3
    RING-type E3 ubiquitin transferase NEURL1B
    neuralized 2 alternative protein
    neuralized homolog 1B
    neuralized-2
    neuralized-like protein 1B
    neuralized-like protein 3
    NP_001136123.1
    NP_001295106.1
    NP_001295107.1

    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_001142651.3 → NP_001136123.1  E3 ubiquitin-protein ligase NEURL1B isoform hNEUR2

      See identical proteins and their annotated locations for NP_001136123.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (hNEUR2).
      Source sequence(s)
      AC027309, AK026748, AK096661, CN267889, GQ414757, HY104395
      Consensus CDS
      CCDS47342.1
      UniProtKB/Swiss-Prot
      A8MQ27, C9DQJ5, C9DQJ6, C9DQJ7
      Related
      ENSP00000358815.5, ENST00000369800.6
      Conserved Domains (4) summary
      smart00588
      Location:40 → 159
      NEUZ; domain in neuralized proteins
      pfam07177
      Location:41 → 106
      Neuralized; Neuralized
      pfam13920
      Location:499 → 549
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)
      cl02614
      Location:40 → 189
      SPRY; SPRY domain

    2. NM_001308177.2 → NP_001295106.1  E3 ubiquitin-protein ligase NEURL1B isoform hNEUR2-deltaNHR1

      See identical proteins and their annotated locations for NP_001295106.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (hNEUR2-deltaNHR1) that is shorter than isoform hNEUR2.
      Source sequence(s)
      AC027309, AK026748, AK096661, CN267889, GQ414758, HY104395
      Consensus CDS
      CCDS83042.1
      UniProtKB/Swiss-Prot
      A8MQ27
      Related
      ENSP00000430001.1, ENST00000522853.5
      Conserved Domains (3) summary
      smart00588
      Location:97 → 217
      NEUZ; domain in neuralized proteins
      pfam07177
      Location:100 → 165
      Neuralized; Neuralized
      pfam13920
      Location:317 → 367
      zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)

    3. NM_001308178.2 → NP_001295107.1  E3 ubiquitin-protein ligase NEURL1B isoform hNEUR2-deltaNHR2

      See identical proteins and their annotated locations for NP_001295107.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (hNEUR2-deltaNHR2) that is shorter than isoform hNEUR2.
      Source sequence(s)
      AC027309, AK026748, AK096661, CN267889, GQ414759, HY104395
      Consensus CDS
      CCDS78085.1
      UniProtKB/Swiss-Prot
      A8MQ27
      Related
      ENSP00000429797.1, ENST00000520919.5
      Conserved Domains (3) summary
      cd00162
      Location:263 → 302
      RING_Ubox; modified RING-HC finger (C3HC5-type) [structural motif]
      pfam07177
      Location:41 → 193
      Neuralized
      cl17238
      Location:262 → 304
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      172641263..172691540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      173181429..173231748
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_015355.3: Suppressed sequence

      Description
      NR_015355.3: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MQ27.1 GenPept UniProtKB/Swiss-Prot:A8MQ27

    Gene LinkOut

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

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