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    UBE2Q1 ubiquitin conjugating enzyme E2 Q1 [ Homo sapiens (human) ]

    Gene ID: 55585, updated on 9-Dec-2024

    Summary

    Official Symbol
    UBE2Q1provided by HGNC
    Official Full Name
    ubiquitin conjugating enzyme E2 Q1provided by HGNC
    Primary source
    HGNC:HGNC:15698
    See related
    Ensembl:ENSG00000160714 MIM:617429; AllianceGenome:HGNC:15698
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GTAP; NICE5; UBE2Q; NICE-5; PRO3094
    Summary
    The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 25.0), lymph node (RPKM 18.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See UBE2Q1 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (154548577..154558662, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153685704..153695786, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154521053..154531138, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154390689-154391202 Neighboring gene interleukin 6 receptor Neighboring gene proteasome 26S subunit, non-ATPase, 8 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154399170-154399670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154399671-154400171 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154404493-154405326 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154405327-154406158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154406159-154406992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154417761-154418260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154437441-154437942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154461067-154461569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154461570-154462071 Neighboring gene Src homology 2 domain containing E Neighboring gene tudor domain containing 10 Neighboring gene Sharpr-MPRA regulatory region 5559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1359 Neighboring gene UBE2Q1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154530992-154531573 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154531574-154532154 Neighboring gene uncharacterized LOC107985206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1363 Neighboring gene Sharpr-MPRA regulatory region 5811 Neighboring gene cholinergic receptor nicotinic beta 2 subunit

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin conjugating enzyme activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in embryo implantation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in prolactin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in reproductive system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in suckling behavior IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in filopodium IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ubiquitin-conjugating enzyme E2 Q1
    Names
    E2 ubiquitin-conjugating enzyme Q1
    galactosyl transferase-associated protein
    protein NICE-5
    ubiquitin carrier protein Q1
    ubiquitin conjugating enzyme E2Q family member 1
    ubiquitin-conjugating enzyme E2Q (putative) 1
    ubiquitin-protein ligase Q1
    NP_060052.3
    XP_047280423.1
    XP_054193503.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_017582.7NP_060052.3  ubiquitin-conjugating enzyme E2 Q1

      See identical proteins and their annotated locations for NP_060052.3

      Status: REVIEWED

      Source sequence(s)
      AL592078, AY112698, CA391436
      Consensus CDS
      CCDS1069.1
      UniProtKB/Swiss-Prot
      B4DF92, Q29SN7, Q3B841, Q5I0X2, Q6IS04, Q6P7P2, Q7Z7E8, Q96MV4, Q9BVX5, Q9UGL6
      UniProtKB/TrEMBL
      A7MAV4
      Related
      ENSP00000292211.4, ENST00000292211.5
      Conserved Domains (1) summary
      cl00154
      Location:253409
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      154548577..154558662 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424467.1XP_047280423.1  ubiquitin-conjugating enzyme E2 Q1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      153685704..153695786 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337528.1XP_054193503.1  ubiquitin-conjugating enzyme E2 Q1 isoform X1