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HACE1 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 [ Homo sapiens (human) ]

Gene ID: 57531, updated on 12-Aug-2018

Summary

Official Symbol
HACE1provided by HGNC
Official Full Name
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1provided by HGNC
Primary source
HGNC:HGNC:21033
See related
Ensembl:ENSG00000085382 MIM:610876; Vega:OTTHUMG00000015287
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
SPPRS
Summary
This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]
Expression
Broad expression in placenta (RPKM 13.5), testis (RPKM 6.0) and 22 other tissues See more
Orthologs

Genomic context

See HACE1 in Genome Data Viewer
Location:
6q16.3
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (104682670..104859919, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (105175968..105307794, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377918 Neighboring gene VISTA enhancer hs1452 Neighboring gene RNA, U6 small nuclear 897, pseudogene Neighboring gene poly(A) binding protein cytoplasmic 4 pseudogene Neighboring gene LIN28B antisense RNA 1 Neighboring gene lin-28 homolog B

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spastic paraplegia and psychomotor retardation with or without seizures
MedGen: C4225215 OMIM: 616756 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.
NHGRI GWA Catalog
A genome-wide association study of brain lesion distribution in multiple sclerosis.
NHGRI GWA Catalog
Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
NHGRI GWA Catalog
Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche.
NHGRI GWA Catalog
Genome-wide association study of obsessive-compulsive disorder.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42274

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Rac GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Golgi organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi organization IDA
Inferred from Direct Assay
more info
PubMed 
Rac protein signal transduction TAS
Traceable Author Statement
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
membrane fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
E3 ubiquitin-protein ligase HACE1
Names
HECT-type E3 ubiquitin transferase HACE1
NP_001308009.1
NP_001308012.1
NP_001308013.1
NP_001337483.1
NP_001337484.1
NP_001337485.1
NP_001337486.1
NP_001337487.1
NP_001337488.1
NP_001337489.1
NP_065822.2
XP_016866603.1
XP_016866608.1
XP_016866611.1

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.

Genomic

  1. NG_046782.1 RefSeqGene

    Range
    5001..136827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321080.1NP_001308009.1  E3 ubiquitin-protein ligase HACE1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AK131207, AL513472, AL590402, BC034982
    UniProtKB/Swiss-Prot
    Q8IYU2
    Conserved Domains (7) summary
    smart00248
    Location:6693
    ANK; ankyrin repeats
    smart00119
    Location:535858
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:510859
    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 ...
    cd00204
    Location:92205
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam12796
    Location:69178
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:155205
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:6695
    ANK; ANK repeat [structural motif]
  2. NM_001321083.1NP_001308012.1  E3 ubiquitin-protein ligase HACE1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL513472, AL590402, BC034982, CN288032, DB094058
    UniProtKB/Swiss-Prot
    Q8IYU2
    Conserved Domains (5) summary
    cd00078
    Location:520869
    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 ...
    cd00204
    Location:58183
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:6394
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:492
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:165215
    Ank_4; Ankyrin repeats (many copies)
  3. NM_001321084.1NP_001308013.1  E3 ubiquitin-protein ligase HACE1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 9 and 10, encodes isoform d.
    Source sequence(s)
    AL513472, AL590402, BC034982, DB094058
    UniProtKB/Swiss-Prot
    Q8IYU2
    Conserved Domains (2) summary
    cd00078
    Location:386735
    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 ...
    cd00204
    Location:3883
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
  4. NM_001350554.1NP_001337483.1  E3 ubiquitin-protein ligase HACE1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AL357315, AL513472, AL590402
    Conserved Domains (3) summary
    cd00078
    Location:476825
    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 ...
    cd00204
    Location:32139
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:3261
    ANK; ANK repeat [structural motif]
  5. NM_001350555.1NP_001337484.1  E3 ubiquitin-protein ligase HACE1 isoform f

    Status: REVIEWED

    Source sequence(s)
    AL357315, AL513472, AL590402
    Conserved Domains (3) summary
    cd00078
    Location:457806
    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 ...
    cd00204
    Location:25152
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:6695
    ANK; ANK repeat [structural motif]
  6. NM_001350556.1NP_001337485.1  E3 ubiquitin-protein ligase HACE1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AL357315, AL513472, AL590402
    Conserved Domains (3) summary
    cd00078
    Location:392741
    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 ...
    cd00204
    Location:287
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:132
    ANK; ANK repeat [structural motif]
  7. NM_001350557.1NP_001337486.1  E3 ubiquitin-protein ligase HACE1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 5 and 10, encodes isoform d.
    Source sequence(s)
    AL357315, AL513472, AL590402
    Conserved Domains (2) summary
    cd00078
    Location:386735
    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 ...
    cd00204
    Location:3883
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
  8. NM_001350558.1NP_001337487.1  E3 ubiquitin-protein ligase HACE1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 5 and 9, encodes isoform d.
    Source sequence(s)
    AL357315, AL513472, AL590402
    Conserved Domains (2) summary
    cd00078
    Location:386735
    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 ...
    cd00204
    Location:3883
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
  9. NM_001350559.1NP_001337488.1  E3 ubiquitin-protein ligase HACE1 isoform h

    Status: REVIEWED

    Source sequence(s)
    AL357315, AL513472, AL590402
    Conserved Domains (2) summary
    cd00078
    Location:360709
    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 ...
    cd00204
    Location:1258
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
  10. NM_001350560.1NP_001337489.1  E3 ubiquitin-protein ligase HACE1 isoform i

    Status: REVIEWED

    Source sequence(s)
    AL357315, AL513472, AL590402
    Conserved Domains (1) summary
    cd00078
    Location:293642
    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 ...
  11. NM_020771.3NP_065822.2  E3 ubiquitin-protein ligase HACE1 isoform a

    See identical proteins and their annotated locations for NP_065822.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AJ420474, AK131207, BC034982, BC038119
    Consensus CDS
    CCDS5050.1
    UniProtKB/Swiss-Prot
    Q8IYU2
    Related
    ENSP00000262903.4, OTTHUMP00000016907, ENST00000262903.8, OTTHUMT00000041643
    Conserved Domains (4) summary
    cd00078
    Location:554903
    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 ...
    cd00204
    Location:92217
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:97128
    ANK; ANK repeat [structural motif]
    cl26073
    Location:27283
    Ank_2; Ankyrin repeats (3 copies)

RNA

  1. NR_104424.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an additional exon in both the 5' and central regions, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC034982, BC038119, DA651352
    Related
    ENST00000416605.6, OTTHUMT00000376893
  2. NR_146787.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL357315, AL513472, AL590402
  3. NR_146788.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL357315, AL513472, AL590402
  4. NR_146789.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL357315, AL513472, AL590402
  5. NR_146790.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL357315, AL513472, AL590402
  6. NR_146791.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL357315, AL513472, AL590402
  7. NR_146792.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL357315, AL513472, AL590402

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    104682670..104859919 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011114.2XP_016866603.1  E3 ubiquitin-protein ligase HACE1 isoform X1

    Conserved Domains (3) summary
    cd00078
    Location:476825
    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 ...
    cd00204
    Location:32139
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    sd00045
    Location:3261
    ANK; ANK repeat [structural motif]
  2. XM_017011119.2XP_016866608.1  E3 ubiquitin-protein ligase HACE1 isoform X2

    Conserved Domains (2) summary
    cd00078
    Location:386735
    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 ...
    cd00204
    Location:3883
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
  3. XM_017011122.1XP_016866611.1  E3 ubiquitin-protein ligase HACE1 isoform X3

    Conserved Domains (2) summary
    cd00078
    Location:360709
    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 ...
    cd00204
    Location:1258
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

RNA

  1. XR_001743536.1 RNA Sequence

  2. XR_942529.2 RNA Sequence

  3. XR_001743538.1 RNA Sequence

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