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HERC6 HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 [ Homo sapiens (human) ]

Gene ID: 55008, updated on 1-Jun-2020

Summary

Official Symbol
HERC6provided by HGNC
Official Full Name
HECT and RLD domain containing E3 ubiquitin protein ligase family member 6provided by HGNC
Primary source
HGNC:HGNC:26072
See related
Ensembl:ENSG00000138642 MIM:609249
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
Summary
HERC6 belongs to the HERC family of ubiquitin ligases, all of which contain a HECT domain and at least 1 RCC1 (MIM 179710)-like domain (RLD). The 350-amino acid HECT domain is predicted to catalyze the formation of a thioester with ubiquitin before transferring it to a substrate, and the RLD is predicted to act as a guanine nucleotide exchange factor for small G proteins (Hochrainer et al., 2005 [PubMed 15676274]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in esophagus (RPKM 12.4), gall bladder (RPKM 7.3) and 25 other tissues See more
Orthologs

Genomic context

See HERC6 in Genome Data Viewer
Location:
4q22.1
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (88378485..88443097)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (89299838..89364249)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene PPM1K divergent transcript Neighboring gene uncharacterized LOC105377326 Neighboring gene uncharacterized LOC102723458 Neighboring gene HECT and RLD domain containing E3 ubiquitin protein ligase 5 Neighboring gene nuclear receptor coactivator 4 pseudogene 2

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

Phenotypes

NHGRI GWAS Catalog

Description
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 (HERC6) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20637

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ubiquitin-protein transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
probable E3 ubiquitin-protein ligase HERC6
Names
HECT domain and RCC1-like domain-containing protein 6
HECT-type E3 ubiquitin transferase HERC6
hect domain and RLD 6
potential ubiquitin ligase
NP_001158608.1
NP_060382.3
XP_005263140.1
XP_011530355.1
XP_016863822.1

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_001165136.2NP_001158608.1  probable E3 ubiquitin-protein ligase HERC6 isoform 2

    See identical proteins and their annotated locations for NP_001158608.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AC083829, FJ695209
    Consensus CDS
    CCDS54777.1
    UniProtKB/Swiss-Prot
    Q8IVU3
    Related
    ENSP00000369617.5, ENST00000380265.9
    Conserved Domains (4) summary
    smart00119
    Location:663978
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:636978
    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:93143
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:238267
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  2. NM_017912.4NP_060382.3  probable E3 ubiquitin-protein ligase HERC6 isoform 1

    See identical proteins and their annotated locations for NP_060382.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC083829, FJ695209
    Consensus CDS
    CCDS47098.1
    UniProtKB/Swiss-Prot
    Q8IVU3
    Related
    ENSP00000264346.7, ENST00000264346.11
    Conserved Domains (4) summary
    smart00119
    Location:6991014
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:6721014
    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:93143
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:238267
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    88378485..88443097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263083.4XP_005263140.1  probable E3 ubiquitin-protein ligase HERC6 isoform X1

    Conserved Domains (4) summary
    smart00119
    Location:7111026
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:6841026
    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:105155
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:250279
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  2. XM_011532053.3XP_011530355.1  probable E3 ubiquitin-protein ligase HERC6 isoform X2

    Conserved Domains (4) summary
    smart00119
    Location:675990
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:648990
    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:105155
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:250279
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  3. XM_017008333.1XP_016863822.1  probable E3 ubiquitin-protein ligase HERC6 isoform X3

    Conserved Domains (2) summary
    smart00119
    Location:291606
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:264606
    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_001741267.2 RNA Sequence

    Related
    ENST00000273960.7

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001013000.1: Suppressed sequence

    Description
    NM_001013000.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_001013002.1: Suppressed sequence

    Description
    NM_001013002.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  3. NM_001013005.1: Suppressed sequence

    Description
    NM_001013005.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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