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    CCNB1IP1 cyclin B1 interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 57820, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CCNB1IP1provided by HGNC
    Official Full Name
    cyclin B1 interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:19437
    See related
    Ensembl:ENSG00000100814 MIM:608249; AllianceGenome:HGNC:19437
    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
    HEI10; C14orf18
    Summary
    HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004]
    Expression
    Ubiquitous expression in ovary (RPKM 41.4), thyroid (RPKM 28.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCNB1IP1 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20311370..20333279, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14508267..14530172, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (20779529..20801438, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903279 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:20763215-20764414 Neighboring gene tetratricopeptide repeat domain 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8067 Neighboring gene MPRA-validated peak2110 silencer Neighboring gene small nucleolar RNA, H/ACA box 79B Neighboring gene small nucleolar RNA, C/D box 126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8070 Neighboring gene ribonuclease P RNA component H1 Neighboring gene poly(ADP-ribose) polymerase 2

    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. A functional association between merlin and HEI10, a cell cycle regulator. Grönholm M, et al. Oncogene, 2006 Jul 27. PMID 16532029
    2. A novel RING finger protein, human enhancer of invasion 10, alters mitotic progression through regulation of cyclin B levels. Toby GG, et al. Mol Cell Biol, 2003 Mar. PMID 12612082, Free PMC Article
    3. Cytosolic quality control of mislocalized proteins requires RNF126 recruitment to Bag6. Rodrigo-Brenni MC, et al. Mol Cell, 2014 Jul 17. PMID 24981174, Free PMC Article
    4. Evidence Implicating CCNB1IP1, a RING Domain-Containing Protein Required for Meiotic Crossing Over in Mice, as an E3 SUMO Ligase. Strong ER, et al. Genes (Basel), 2010 Dec 2. PMID 21779533, Free PMC Article
    5. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCNB1IP1 prevents ubiquitination-mediated destabilization of MYCN and potentiates tumourigenesis of MYCN-amplificated neuroblastoma.
      Title: CCNB1IP1 prevents ubiquitination-mediated destabilization of MYCN and potentiates tumourigenesis of MYCN-amplificated neuroblastoma.
    2. HEI10 defines a divergent class of E3 ubiquitin ligase, functioning in progression through G(2)/M.
      Title: A novel RING finger protein, human enhancer of invasion 10, alters mitotic progression through regulation of cyclin B levels.
    3. The cyclin B-binding protein and cell cycle regulator HEI10 is identified as a novel merlin-binding partner; interaction with merlin affects HEI10 protein levels.
      Title: A functional association between merlin and HEI10, a cell cycle regulator.
    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in blastocyst formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chiasma assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in reciprocal meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in reciprocal meiotic recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    colocalizes_with synaptonemal complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase CCNB1IP1
    Names
    RING-type E3 ubiquitin transferase CCNB1IP1
    cyclin B1 interacting protein 1, E3 ubiquitin protein ligase
    epididymis secretory sperm binding protein
    human enhancer of invasion 10
    NP_067001.3
    NP_878269.1
    NP_878272.1

    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_021178.5 → NP_067001.3  E3 ubiquitin-protein ligase CCNB1IP1

      See identical proteins and their annotated locations for NP_067001.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) and variants 2 and 4 encode the same protein.
      Source sequence(s)
      AF216381, AI301662, AK026233, DB029392
      Consensus CDS
      CCDS9547.1
      UniProtKB/Swiss-Prot
      Q9NPC3
      UniProtKB/TrEMBL
      A0A384MR52
      Related
      ENSP00000351810.4, ENST00000358932.9
      Conserved Domains (2) summary
      pfam14634
      Location:10 → 52
      zf-RING_5; zinc-RING finger domain
      cl27218
      Location:100 → 175
      OmpH; Outer membrane protein (OmpH-like)

    2. NM_182849.3 → NP_878269.1  E3 ubiquitin-protein ligase CCNB1IP1

      See identical proteins and their annotated locations for NP_878269.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AF216381, AI301662, BM741413
      Consensus CDS
      CCDS9547.1
      UniProtKB/Swiss-Prot
      Q9NPC3
      UniProtKB/TrEMBL
      A0A384MR52
      Related
      ENSP00000337396.4, ENST00000353689.8
      Conserved Domains (2) summary
      pfam14634
      Location:10 → 52
      zf-RING_5; zinc-RING finger domain
      cl27218
      Location:100 → 175
      OmpH; Outer membrane protein (OmpH-like)

    3. NM_182852.4 → NP_878272.1  E3 ubiquitin-protein ligase CCNB1IP1

      See identical proteins and their annotated locations for NP_878272.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
      Source sequence(s)
      AI301662, BC000369, BI763317, DB029392
      Consensus CDS
      CCDS9547.1
      UniProtKB/Swiss-Prot
      Q9NPC3
      UniProtKB/TrEMBL
      A0A384MR52
      Related
      ENSP00000381235.3, ENST00000398169.7
      Conserved Domains (2) summary
      pfam14634
      Location:10 → 52
      zf-RING_5; zinc-RING finger domain
      cl27218
      Location:100 → 175
      OmpH; Outer membrane protein (OmpH-like)

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      20311370..20333279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791796.1 Reference GRCh38.p14 PATCHES

      Range
      514051..535960 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      14508267..14530172 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182851.1: Suppressed sequence

      Description
      NM_182851.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPC3.1 GenPept UniProtKB/Swiss-Prot:Q9NPC3

    Gene LinkOut

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

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