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UBE3C ubiquitin protein ligase E3C [ Homo sapiens (human) ]

Gene ID: 9690, updated on 1-Jun-2020

Summary

Official Symbol
UBE3Cprovided by HGNC
Official Full Name
ubiquitin protein ligase E3Cprovided by HGNC
Primary source
HGNC:HGNC:16803
See related
Ensembl:ENSG00000009335 MIM:614454
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
HECTH2
Expression
Ubiquitous expression in testis (RPKM 21.1), esophagus (RPKM 16.8) and 25 other tissues See more
Orthologs

Genomic context

See UBE3C in Genome Data Viewer
Location:
7q36.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (157138926..157269370)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (156931655..157062066)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene adenosylmethionine decarboxylase 1 pseudogene Neighboring gene uncharacterized LOC105375607 Neighboring gene RPS27A pseudogene 12 Neighboring gene UBX domain protein 2B pseudogene Neighboring gene ribosomal protein L36a pseudogene 30 Neighboring gene DnaJ heat shock protein family (Hsp40) member B6 Neighboring gene uncharacterized LOC101927914

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

NHGRI GWAS Catalog

Description
A genomewide association study of citalopram response in major depressive disorder.
NHGRI GWA Catalog
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA10, KIAA0010

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin conjugating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
proteasome complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ubiquitin-protein ligase E3C
Names
HECT-type ubiquitin transferase E3C
ubiquitin-protein isopeptide ligase (E3)
NP_055486.2
XP_005249621.1
XP_016868307.1

NCBI Reference Sequences (RefSeq)

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_014671.3NP_055486.2  ubiquitin-protein ligase E3C

    See identical proteins and their annotated locations for NP_055486.2

    Status: VALIDATED

    Source sequence(s)
    AA596042, AC004898, AK127280, CD366848, D13635, DB085748, DB454915
    Consensus CDS
    CCDS34789.1
    UniProtKB/Swiss-Prot
    Q15386
    Related
    ENSP00000309198.8, ENST00000348165.10
    Conserved Domains (3) summary
    smart00015
    Location:4764
    IQ; Calmodulin-binding motif
    smart00119
    Location:7471080
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:7251081
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    157138926..157269370
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012818.1XP_016868307.1  ubiquitin-protein ligase E3C isoform X1

    Conserved Domains (3) summary
    smart00015
    Location:2643
    IQ; Calmodulin-binding motif
    smart00119
    Location:7261059
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:7041060
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
  2. XM_005249564.4XP_005249621.1  ubiquitin-protein ligase E3C isoform X2

    Conserved Domains (2) summary
    smart00119
    Location:7221055
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:7001056
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

RNA

  1. XR_927552.3 RNA Sequence

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