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HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [ Homo sapiens (human) ]

Gene ID: 10075, updated on 6-Nov-2022

Summary

Official Symbol
HUWE1provided by HGNC
Official Full Name
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1provided by HGNC
Primary source
HGNC:HGNC:30892
See related
Ensembl:ENSG00000086758 MIM:300697; AllianceGenome:HGNC:30892
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
MULE; Ib772; LASU1; MRXST; UREB1; HECTH9; URE-B1; ARF-BP1; HSPC272
Summary
This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in ovary (RPKM 14.5), testis (RPKM 13.8) and 25 other tissues See more
Orthologs
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Genomic context

See HUWE1 in Genome Data Viewer
Location:
Xp11.22
Exon count:
87
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (53532096..53686719, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (52818443..52973077, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (53559057..53713664, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene vault RNA 3-1, pseudogene Neighboring gene Sharpr-MPRA regulatory region 13191 Neighboring gene microRNA let-7f-2 Neighboring gene microRNA 98 Neighboring gene MRPL32 pseudogene 2 Neighboring gene MRPS18C pseudogene 7

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

Associated conditions

Description Tests
Intellectual disability, X-linked syndromic, Turner type
MedGen: C2678046 OMIM: 309590 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2018-09-26)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2018-09-26)

ClinGen Genome Curation Page

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase (HUWE1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Gag-Pol gag-pol Co-immunoprecipitation shows interaction of HIV-1 Gag-Pol with Huwe1 through IN domain (residues 1148-1435) PubMed
Rev rev HIV-1 Rev interacting protein, HECT, UBA and WWE domain containing 1 (HUWE1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
Vif vif HIV-1 Vif is identified to have a physical interaction with HECT, UBA and WWE domain containing 1 (HUWE1) in human HEK293 and/or Jurkat cell lines PubMed
integrase gag-pol Co-immunoprecipitation shows interaction of HIV-1 IN with Huwe1 through the CCD domain of IN PubMed
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase (HUWE1) at amino acid residues 3686-3687 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0312

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin protein ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in Golgi organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in base-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in base-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in circadian regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in histone ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of mitochondrial fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of mitophagy in response to mitochondrial depolarization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein targeting to mitochondrion HMP PubMed 
involved_in positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
located_in membrane HDA PubMed 
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase HUWE1
Names
ARF-binding protein 1
BJ-HCC-24 tumor antigen
HECT domain protein LASU1
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
HECT-type E3 ubiquitin transferase HUWE1
Mcl-1 ubiquitin ligase E3
URE-binding protein 1
homologous to E6AP carboxyl terminus homologous protein 9
large structure of UREB1
upstream regulatory element-binding protein 1
NP_113584.3
XP_005262022.1
XP_011529049.1
XP_011529053.1
XP_016884687.1
XP_016884688.1
XP_016884691.1
XP_016884692.1
XP_047297667.1
XP_047297668.1
XP_047297669.1
XP_047297670.1
XP_047297671.1
XP_047297672.1
XP_047297673.1
XP_047297674.1
XP_047297675.1
XP_047297676.1
XP_047297677.1
XP_047297678.1
XP_047297679.1
XP_047297680.1
XP_047297681.1
XP_047297682.1
XP_047297683.1
XP_047297684.1
XP_047297685.1
XP_047297686.1
XP_047297687.1
XP_047297688.1
XP_047297689.1
XP_047297690.1
XP_047297691.1
XP_047297692.1
XP_047297693.1
XP_047297694.1
XP_047297695.1
XP_047297696.1
XP_047297697.1
XP_047297698.1
XP_047297699.1
XP_047297700.1
XP_047297701.1
XP_047297702.1
XP_047297703.1
XP_047297704.1
XP_047297705.1
XP_047297706.1
XP_047297707.1
XP_047297708.1

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.

Genomic

  1. NG_016261.2 RefSeqGene

    Range
    5015..159638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_031407.7NP_113584.3  E3 ubiquitin-protein ligase HUWE1

    See identical proteins and their annotated locations for NP_113584.3

    Status: REVIEWED

    Source sequence(s)
    AB002310, AC231658, AY772009, BX323845, DQ097177, R60532
    Consensus CDS
    CCDS35301.1
    UniProtKB/Swiss-Prot
    Q7Z6Z7, Q9P0A9
    UniProtKB/TrEMBL
    A0A024R9W5
    Related
    ENSP00000262854.6, ENST00000262854.11
    Conserved Domains (7) summary
    smart00119
    Location:40434371
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:40194372
    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 ...
    cd14288
    Location:13171356
    UBA_HUWE1; UBA domain found in eukaryotic E3 ubiquitin-protein ligase HUWE1 and similar proteins
    pfam02825
    Location:16171678
    WWE; WWE domain
    pfam06012
    Location:92367
    DUF908; Domain of Unknown Function (DUF908)
    pfam06025
    Location:430814
    DUF913; Domain of Unknown Function (DUF913)
    pfam14377
    Location:29683077
    DUF4414; Domain of unknown function (DUF4414)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    53532096..53686719 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441744.1XP_047297700.1  E3 ubiquitin-protein ligase HUWE1 isoform X20

  2. XM_047441734.1XP_047297690.1  E3 ubiquitin-protein ligase HUWE1 isoform X17

  3. XM_047441751.1XP_047297707.1  E3 ubiquitin-protein ligase HUWE1 isoform X25

  4. XM_047441741.1XP_047297697.1  E3 ubiquitin-protein ligase HUWE1 isoform X19

    UniProtKB/TrEMBL
    A0A024R9Y3
  5. XM_011530747.2XP_011529049.1  E3 ubiquitin-protein ligase HUWE1 isoform X3

    See identical proteins and their annotated locations for XP_011529049.1

    Conserved Domains (7) summary
    cd00078
    Location:41024455
    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 ...
    cd14288
    Location:14001439
    UBA_HUWE1; UBA domain found in eukaryotic E3 ubiquitin-protein ligase HUWE1 and similar proteins
    pfam02825
    Location:17001761
    WWE; WWE domain
    pfam06012
    Location:92367
    DUF908; Domain of Unknown Function (DUF908)
    pfam06025
    Location:430897
    DUF913; Domain of Unknown Function (DUF913)
    pfam14377
    Location:30513160
    DUF4414; Domain of unknown function (DUF4414)
    cl26464
    Location:28183149
    Atrophin-1; Atrophin-1 family
  6. XM_047441739.1XP_047297695.1  E3 ubiquitin-protein ligase HUWE1 isoform X18

  7. XM_047441729.1XP_047297685.1  E3 ubiquitin-protein ligase HUWE1 isoform X15

  8. XM_017029199.2XP_016884688.1  E3 ubiquitin-protein ligase HUWE1 isoform X1

  9. XM_047441736.1XP_047297692.1  E3 ubiquitin-protein ligase HUWE1 isoform X17

  10. XM_047441742.1XP_047297698.1  E3 ubiquitin-protein ligase HUWE1 isoform X19

    UniProtKB/TrEMBL
    A0A024R9Y3
  11. XM_047441732.1XP_047297688.1  E3 ubiquitin-protein ligase HUWE1 isoform X16

    UniProtKB/Swiss-Prot
    Q9P0A9
    UniProtKB/TrEMBL
    A0A024R9W5
  12. XM_047441713.1XP_047297669.1  E3 ubiquitin-protein ligase HUWE1 isoform X3

  13. XM_047441730.1XP_047297686.1  E3 ubiquitin-protein ligase HUWE1 isoform X15

  14. XM_017029202.2XP_016884691.1  E3 ubiquitin-protein ligase HUWE1 isoform X1

  15. XM_047441752.1XP_047297708.1  E3 ubiquitin-protein ligase HUWE1 isoform X26

  16. XM_047441743.1XP_047297699.1  E3 ubiquitin-protein ligase HUWE1 isoform X20

    Related
    ENSP00000515693.1, ENST00000704099.1
  17. XM_047441735.1XP_047297691.1  E3 ubiquitin-protein ligase HUWE1 isoform X17

  18. XM_047441750.1XP_047297706.1  E3 ubiquitin-protein ligase HUWE1 isoform X25

  19. XM_047441740.1XP_047297696.1  E3 ubiquitin-protein ligase HUWE1 isoform X19

    UniProtKB/TrEMBL
    A0A024R9Y3
  20. XM_005261965.5XP_005262022.1  E3 ubiquitin-protein ligase HUWE1 isoform X16

    See identical proteins and their annotated locations for XP_005262022.1

    UniProtKB/Swiss-Prot
    Q7Z6Z7, Q9P0A9
    UniProtKB/TrEMBL
    A0A024R9W5
    Related
    ENSP00000340648.3, ENST00000342160.7
    Conserved Domains (7) summary
    smart00119
    Location:40434371
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:40194372
    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 ...
    cd14288
    Location:13171356
    UBA_HUWE1; UBA domain found in eukaryotic E3 ubiquitin-protein ligase HUWE1 and similar proteins
    pfam02825
    Location:16171678
    WWE; WWE domain
    pfam06012
    Location:92367
    DUF908; Domain of Unknown Function (DUF908)
    pfam06025
    Location:430814
    DUF913; Domain of Unknown Function (DUF913)
    pfam14377
    Location:29683077
    DUF4414; Domain of unknown function (DUF4414)
  21. XM_047441714.1XP_047297670.1  E3 ubiquitin-protein ligase HUWE1 isoform X3

  22. XM_047441738.1XP_047297694.1  E3 ubiquitin-protein ligase HUWE1 isoform X18

  23. XM_047441728.1XP_047297684.1  E3 ubiquitin-protein ligase HUWE1 isoform X15

  24. XM_047441747.1XP_047297703.1  E3 ubiquitin-protein ligase HUWE1 isoform X22

  25. XM_047441727.1XP_047297683.1  E3 ubiquitin-protein ligase HUWE1 isoform X14

  26. XM_047441724.1XP_047297680.1  E3 ubiquitin-protein ligase HUWE1 isoform X11

  27. XM_047441722.1XP_047297678.1  E3 ubiquitin-protein ligase HUWE1 isoform X9

  28. XM_047441720.1XP_047297676.1  E3 ubiquitin-protein ligase HUWE1 isoform X7

  29. XM_047441718.1XP_047297674.1  E3 ubiquitin-protein ligase HUWE1 isoform X5

  30. XM_047441712.1XP_047297668.1  E3 ubiquitin-protein ligase HUWE1 isoform X2

  31. XM_047441749.1XP_047297705.1  E3 ubiquitin-protein ligase HUWE1 isoform X24

  32. XM_047441748.1XP_047297704.1  E3 ubiquitin-protein ligase HUWE1 isoform X23

  33. XM_047441746.1XP_047297702.1  E3 ubiquitin-protein ligase HUWE1 isoform X21

  34. XM_047441726.1XP_047297682.1  E3 ubiquitin-protein ligase HUWE1 isoform X13

  35. XM_047441725.1XP_047297681.1  E3 ubiquitin-protein ligase HUWE1 isoform X12

  36. XM_047441723.1XP_047297679.1  E3 ubiquitin-protein ligase HUWE1 isoform X10

  37. XM_047441721.1XP_047297677.1  E3 ubiquitin-protein ligase HUWE1 isoform X8

  38. XM_047441719.1XP_047297675.1  E3 ubiquitin-protein ligase HUWE1 isoform X6

  39. XM_047441717.1XP_047297673.1  E3 ubiquitin-protein ligase HUWE1 isoform X4

  40. XM_017029198.3XP_016884687.1  E3 ubiquitin-protein ligase HUWE1 isoform X1

  41. XM_047441745.1XP_047297701.1  E3 ubiquitin-protein ligase HUWE1 isoform X20

  42. XM_047441737.1XP_047297693.1  E3 ubiquitin-protein ligase HUWE1 isoform X17

  43. XM_047441731.1XP_047297687.1  E3 ubiquitin-protein ligase HUWE1 isoform X16

    UniProtKB/Swiss-Prot
    Q9P0A9
    UniProtKB/TrEMBL
    A0A024R9W5
    Related
    ENSP00000479451.1, ENST00000612484.4
  44. XM_011530751.3XP_011529053.1  E3 ubiquitin-protein ligase HUWE1 isoform X3

    See identical proteins and their annotated locations for XP_011529053.1

    Conserved Domains (7) summary
    cd00078
    Location:41024455
    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 ...
    cd14288
    Location:14001439
    UBA_HUWE1; UBA domain found in eukaryotic E3 ubiquitin-protein ligase HUWE1 and similar proteins
    pfam02825
    Location:17001761
    WWE; WWE domain
    pfam06012
    Location:92367
    DUF908; Domain of Unknown Function (DUF908)
    pfam06025
    Location:430897
    DUF913; Domain of Unknown Function (DUF913)
    pfam14377
    Location:30513160
    DUF4414; Domain of unknown function (DUF4414)
    cl26464
    Location:28183149
    Atrophin-1; Atrophin-1 family
  45. XM_017029203.2XP_016884692.1  E3 ubiquitin-protein ligase HUWE1 isoform X1

  46. XM_047441733.1XP_047297689.1  E3 ubiquitin-protein ligase HUWE1 isoform X16

    UniProtKB/Swiss-Prot
    Q9P0A9
    UniProtKB/TrEMBL
    A0A024R9W5
  47. XM_047441715.1XP_047297671.1  E3 ubiquitin-protein ligase HUWE1 isoform X3

  48. XM_047441711.1XP_047297667.1  E3 ubiquitin-protein ligase HUWE1 isoform X1

  49. XM_047441716.1XP_047297672.1  E3 ubiquitin-protein ligase HUWE1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    52818443..52973077 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)