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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
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Genomic context

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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

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