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HERC3 HECT and RLD domain containing E3 ubiquitin protein ligase 3 [ Homo sapiens (human) ]

Gene ID: 8916, updated on 20-Feb-2017
Official Symbol
HERC3provided by HGNC
Official Full Name
HECT and RLD domain containing E3 ubiquitin protein ligase 3provided by HGNC
Primary source
HGNC:HGNC:4876
See related
Ensembl:ENSG00000138641 MIM:605200; Vega:OTTHUMG00000150436
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
Summary
This gene encodes a member the HERC ubiquitin ligase family. The encoded protein is located in the cytosol and binds ubiquitin via a HECT domain. Mutations in this gene have been associated with colorectal and gastric carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
Orthologs
Location:
4q22.1
Exon count:
30
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (88592423..88709303)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (89513574..89629693)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene CD53 molecule pseudogene Neighboring gene RNA, 7SK small nuclear pseudogene 244 Neighboring gene FAM13A antisense RNA 1 Neighboring gene nucleosome assembly protein 1 like 5 Neighboring gene family with sequence similarity 13 member A Neighboring gene uncharacterized LOC105377327

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0032

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ubiquitin-protein transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
Preferred Names
probable E3 ubiquitin-protein ligase HERC3
Names
HECT domain and RCC1-like domain-containing protein 3
HECT-type E3 ubiquitin transferase HERC3
hect domain and RLD 3
NP_001258531.1
NP_001305434.1
NP_055421.1

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_001271602.1NP_001258531.1  probable E3 ubiquitin-protein ligase HERC3 isoform 2

    See identical proteins and their annotated locations for NP_001258531.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate 5' exon and portion of the 5' coding region. These differences cause translation initiation at a downstream AUG and result in an isoform (2) which has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK296379, BE044630, BQ925135, D25215, DA333248
    UniProtKB/Swiss-Prot
    Q15034
    UniProtKB/TrEMBL
    B4DK41
    Conserved Domains (5) summary
    smart00119
    Location:608929
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    COG5184
    Location:134383
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    cd00078
    Location:584930
    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 ...
    pfam00415
    Location:90139
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:2150
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  2. NM_001318505.1NP_001305434.1  probable E3 ubiquitin-protein ligase HERC3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3 which is significantly shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK289990, BC038960, CA427366, DA333248
    Consensus CDS
    CCDS82939.1
    UniProtKB/Swiss-Prot
    Q15034
    Related
    ENSP00000384005, OTTHUMP00000197356, ENST00000407637, OTTHUMT00000318082
    Conserved Domains (2) summary
    pfam00415
    Location:208257
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:3665
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  3. NM_014606.2NP_055421.1  probable E3 ubiquitin-protein ligase HERC3 isoform 1

    See identical proteins and their annotated locations for NP_055421.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK289990, BE044624, D25215, DA333248
    Consensus CDS
    CCDS34028.1
    UniProtKB/Swiss-Prot
    Q15034
    Related
    ENSP00000385684, OTTHUMP00000197355, ENST00000402738, OTTHUMT00000318081
    Conserved Domains (4) summary
    smart00119
    Location:7261047
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:7021048
    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 ...
    pfam00415
    Location:208257
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:3665
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

    Range
    88592423..88709303
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263330.3XP_005263387.1  probable E3 ubiquitin-protein ligase HERC3 isoform X3

    Conserved Domains (4) summary
    smart00119
    Location:676990
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:676991
    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 ...
    pfam00415
    Location:208257
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:3665
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  2. XM_005263329.3XP_005263386.1  probable E3 ubiquitin-protein ligase HERC3 isoform X2

    See identical proteins and their annotated locations for XP_005263386.1

    Conserved Domains (4) summary
    smart00119
    Location:7181039
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:6941040
    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 ...
    pfam00415
    Location:208257
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:3665
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  3. XM_005263331.1XP_005263388.1  probable E3 ubiquitin-protein ligase HERC3 isoform X5

    Conserved Domains (3) summary
    pfam00415
    Location:208257
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:3665
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    cl00077
    Location:702887
    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 ...
  4. XM_005263332.3XP_005263389.1  probable E3 ubiquitin-protein ligase HERC3 isoform X6

    Conserved Domains (3) summary
    pfam00415
    Location:208257
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:3665
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    cl00077
    Location:702886
    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 ...
  5. XM_005263327.3XP_005263384.1  probable E3 ubiquitin-protein ligase HERC3 isoform X1

    See identical proteins and their annotated locations for XP_005263384.1

    UniProtKB/Swiss-Prot
    Q15034
    Conserved Domains (4) summary
    smart00119
    Location:7261047
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:7021048
    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 ...
    pfam00415
    Location:208257
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:3665
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  6. XM_017008806.1XP_016864295.1  probable E3 ubiquitin-protein ligase HERC3 isoform X2

    Conserved Domains (4) summary
    smart00119
    Location:7181039
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:6941040
    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 ...
    pfam00415
    Location:208257
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:3665
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  7. XM_017008807.1XP_016864296.1  probable E3 ubiquitin-protein ligase HERC3 isoform X4

  8. XM_017008808.1XP_016864297.1  probable E3 ubiquitin-protein ligase HERC3 isoform X7

  9. XM_011532397.2XP_011530699.1  probable E3 ubiquitin-protein ligase HERC3 isoform X8

    Conserved Domains (2) summary
    smart00119
    Location:170491
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:146492
    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 ...

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    89490048..89606164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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