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    RMND5B required for meiotic nuclear division 5 homolog B [ Homo sapiens (human) ]

    Gene ID: 64777, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RMND5Bprovided by HGNC
    Official Full Name
    required for meiotic nuclear division 5 homolog Bprovided by HGNC
    Primary source
    HGNC:HGNC:26181
    See related
    Ensembl:ENSG00000145916 AllianceGenome:HGNC:26181
    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
    GID2; GID2B
    Summary
    Predicted to enable metal ion binding activity and ubiquitin protein ligase activity. Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 28.7), esophagus (RPKM 18.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RMND5B in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (178131014..178150568)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (178681247..178700827)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (177558015..177577569)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16711 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:177541661-177542174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:177547789-177548591 Neighboring gene NEDD4 binding protein 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:177550999-177551800 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:177553540-177554200 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:177554863-177555523 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:177556537-177557188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:177557189-177557840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:177559119-177559648 Neighboring gene Sharpr-MPRA regulatory region 11782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:177577953-177578454 Neighboring gene NHP2 ribonucleoprotein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:177590971-177591472 Neighboring gene NAD(P)HX epimerase pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:177607056-177607598 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:177607599-177608139 Neighboring gene germ cell-less 2, spermatogenesis associated

    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. RMND5 from Xenopus laevis is an E3 ubiquitin-ligase and functions in early embryonic forebrain development. Pfirrmann T, et al. PLoS One, 2015. PMID 25793641, Free PMC Article
    2. Yeast two-hybrid identification of prostatic proteins interacting with human sex hormone-binding globulin. Pope SN, et al. J Steroid Biochem Mol Biol, 2005 Feb. PMID 15862967
    3. A comprehensive framework of E2-RING E3 interactions of the human ubiquitin-proteasome system. van Wijk SJ, et al. Mol Syst Biol, 2009. PMID 19690564, Free PMC Article
    4. Distinct nuclear and cytoplasmic assemblies and interactomes of the mammalian CTLH E3 ligase complex. Onea G, et al. J Cell Sci, 2022 Jul 15. PMID 35833506
    5. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article

    See all (24) 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • FLJ22318, DKFZp434K0926

    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to ubiquitin-protein transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of GID complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein transferase RMND5B
    Names
    GID complex subunit 2 homolog B
    protein RMD5 homolog B
    NP_001275723.1
    NP_001275724.1
    NP_073599.2
    XP_005266026.1
    XP_005266029.1
    XP_016865217.1
    XP_047273481.1
    XP_047273482.1
    XP_054209114.1
    XP_054209115.1
    XP_054209116.1
    XP_054209117.1
    XP_054209118.1

    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_001288794.2 → NP_001275723.1  E3 ubiquitin-protein transferase RMND5B isoform a

      See identical proteins and their annotated locations for NP_001275723.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC136632, AK093481, AK125337, CA440193
      Consensus CDS
      CCDS4431.1
      UniProtKB/Swiss-Prot
      Q1HE27, Q6UVY7, Q96G75, Q9H6F6
      UniProtKB/TrEMBL
      B3KSG5
      Related
      ENSP00000420875.1, ENST00000515098.5
      Conserved Domains (2) summary
      COG5109
      Location:60 → 393
      COG5109; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      pfam10607
      Location:155 → 299
      CLTH; CTLH/CRA C-terminal to LisH motif domain

    2. NM_001288795.2 → NP_001275724.1  E3 ubiquitin-protein transferase RMND5B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (b) has a shorter and distinct N-terminus, compared to variant 1.
      Source sequence(s)
      AC136632, AK093481, AK125337, BC009911, CA440193
      Consensus CDS
      CCDS75382.1
      UniProtKB/TrEMBL
      B3KSG5, F5H6G4
      Related
      ENSP00000437630.1, ENST00000542098.2
      Conserved Domains (5) summary
      smart00667
      Location:103 → 135
      LisH; Lissencephaly type-1-like homology motif
      smart00668
      Location:143 → 199
      CTLH; C-terminal to LisH motif
      smart00757
      Location:198 → 291
      CRA; CT11-RanBPM
      pfam10607
      Location:142 → 286
      CLTH; CTLH/CRA C-terminal to LisH motif domain
      pfam13445
      Location:325 → 364
      zf-RING_UBOX; RING-type zinc-finger

    3. NM_022762.5 → NP_073599.2  E3 ubiquitin-protein transferase RMND5B isoform a

      See identical proteins and their annotated locations for NP_073599.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC136632, BC009911, CA440193, DB053605
      Consensus CDS
      CCDS4431.1
      UniProtKB/Swiss-Prot
      Q1HE27, Q6UVY7, Q96G75, Q9H6F6
      UniProtKB/TrEMBL
      B3KSG5
      Related
      ENSP00000320623.4, ENST00000313386.9
      Conserved Domains (2) summary
      COG5109
      Location:60 → 393
      COG5109; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      pfam10607
      Location:155 → 299
      CLTH; CTLH/CRA C-terminal to LisH motif 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
      178131014..178150568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417525.1 → XP_047273481.1  E3 ubiquitin-protein transferase RMND5B isoform X1

      UniProtKB/Swiss-Prot
      Q1HE27, Q6UVY7, Q96G75, Q9H6F6

    2. XM_017009728.2 → XP_016865217.1  E3 ubiquitin-protein transferase RMND5B isoform X2

      UniProtKB/TrEMBL
      B3KSG5
      Conserved Domains (2) summary
      COG5109
      Location:2 → 333
      COG5109; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      pfam10607
      Location:95 → 239
      CLTH; CTLH/CRA C-terminal to LisH motif domain

    3. XM_005265969.5 → XP_005266026.1  E3 ubiquitin-protein transferase RMND5B isoform X1

      See identical proteins and their annotated locations for XP_005266026.1

      UniProtKB/Swiss-Prot
      Q1HE27, Q6UVY7, Q96G75, Q9H6F6
      UniProtKB/TrEMBL
      B3KSG5
      Conserved Domains (2) summary
      COG5109
      Location:60 → 393
      COG5109; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      pfam10607
      Location:155 → 299
      CLTH; CTLH/CRA C-terminal to LisH motif domain

    4. XM_047417526.1 → XP_047273482.1  E3 ubiquitin-protein transferase RMND5B isoform X1

      UniProtKB/Swiss-Prot
      Q1HE27, Q6UVY7, Q96G75, Q9H6F6

    5. XM_005265972.4 → XP_005266029.1  E3 ubiquitin-protein transferase RMND5B isoform X2

      See identical proteins and their annotated locations for XP_005266029.1

      UniProtKB/TrEMBL
      B3KSG5
      Conserved Domains (2) summary
      COG5109
      Location:2 → 333
      COG5109; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
      pfam10607
      Location:95 → 239
      CLTH; CTLH/CRA C-terminal to LisH motif domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      178681247..178700827
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353141.1 → XP_054209116.1  E3 ubiquitin-protein transferase RMND5B isoform X1

      UniProtKB/Swiss-Prot
      Q1HE27, Q6UVY7, Q96G75, Q9H6F6

    2. XM_054353139.1 → XP_054209114.1  E3 ubiquitin-protein transferase RMND5B isoform X1

      UniProtKB/Swiss-Prot
      Q1HE27, Q6UVY7, Q96G75, Q9H6F6

    3. XM_054353142.1 → XP_054209117.1  E3 ubiquitin-protein transferase RMND5B isoform X2

    4. XM_054353140.1 → XP_054209115.1  E3 ubiquitin-protein transferase RMND5B isoform X1

      UniProtKB/Swiss-Prot
      Q1HE27, Q6UVY7, Q96G75, Q9H6F6

    5. XM_054353143.1 → XP_054209118.1  E3 ubiquitin-protein transferase RMND5B isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96G75.1 GenPept UniProtKB/Swiss-Prot:Q96G75

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