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HACE1 Gene

protein-coding   GIFtS: 51

GC06M105282
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
EC 6.3.2.- 3
KIAA1320 1, 3
Descriptions
HECT domain and ankyrin repeat containing, E3 ubiquitin
protein ligase 1 2
HECT domain and ankyrin repeat-containing E3
ubiquitin-protein ligase 1 3
External Ids
HGNC: 210331
Entrez Gene: 575312
UniProtKB: Q8IYU23
Ensembl: ENSG000000853827
Search outside databases for aliases for HACE1 gene

Previous GC identifers: GC06M105176 GC06M105221

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2
Function: E3 ubiquitin-protein ligase that may function in cellular proteins degradation

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HACE1 gene  

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

HACE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M105282:     (about GC identifiers)

Start:
105,282,661 bp from pter
End:
105,414,867 bp from pter
Size:
132,207 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000006.10  NT_025741.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase HACE1  
Size: 909 amino acids; 102342 Da
Subunit: Interacts with the 26S proteasomal complex through the 20S core proteasomal subunit
Subcellular location: Cytoplasm. Endoplasmic reticulum. Note=A significant portion localizes to the
endoplasmic reticulum
Developmental stage: Expressed in fetal and pediatric kidney cells
Sequence caution: Sequence=CAH71890.1; Type=Erroneous gene model prediction; Sequence=CAH74024.1;
Type=Erroneous gene model prediction; Sequence=CAI16815.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5VU99 Q5VUA0 Q8ND12 Q9P2M6
Alternative splicing: 3 isoforms:  Q8IYU2-1   Q8IYU2-2   Q8IYU2-3   

REFSEQ proteins: NP_065822.2  

ENSEMBL proteins: 
ENSP00000262903 ENSP00000358121 ENSP00000358123 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (HACE1)
Human Recombinant Proteins from Abnova (HACE1)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005622 intracellular IEA--
GO:0005737 cytoplasm IEA--
GO:0005783 endoplasmic reticulum IEA--
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Antibodies for HACE1: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for HACE1
Browse R&D Systems for Antibodies
Antibodies from Abcam (HACE1), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (HACE1)
Novus Biologicals Antibodies for HACE1

Assays for HACE1: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro domains/families:
 IPR000569 HECT
 IPR002110 ANK


   GeneDecks  HACE1 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q8IYU2

ProtoNet protein and cluster: Q8IYU2

2 Blocks protein families:
IPB000569 HECT domain (Ubiquitin-protein ligase)
IPB002110 Ankyrin repeat signature


UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2
Similarity: Contains 6 ANK repeats
Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HACE1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HACE1)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020771

              Applied Biosystems Silencer® siRNAs for HACE1

              Sigma-Aldrich siRNA and siRNA Panels for HACE1  
                     Sigma-Aldrich shRNA Panels and shRNA for HACE1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020771
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_020771
                                 untagged cDNA clone in CMV expression vector: NM_020771 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_020771

UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2
Function: E3 ubiquitin-protein ligase that may function in cellular proteins degradation
Induction: Down-regulated in sporadic Wilms tumor
Enzyme Number (IUBMB): EC 6.3.2.- 

1 MGI mutant phenotype (inferred from 1 allele(MGI details for Hace1):

tumorigenesis

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0016874 ligase activity IEA--
GO:0016881 acid-amino acid ligase activity IEA--
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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2
Pathway: Protein modification; protein ubiquitination


3 Interacting proteins for HACE1 (ENSP000002629033) via UniProtKB, MINT, and/or STRING

InteractantInteraction Details
GeneCardExternal ID(s)
UBE2L3ENSP000003442593STRING (score=.767)
HRASENSP000003733823STRING (score=.756)
LATS1ENSP000002533393STRING (score=.73)
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2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006464 protein modification process IEA--
GO:0019941 modification-dependent protein catabolic process IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HACE1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (HACE1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (HACE1)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_020771

              Sigma-Aldrich siRNA and siRNA Panels for HACE1  
                     Sigma-Aldrich shRNA Panels and shRNA for HACE1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_020771  

REFSEQ mRNAs for HACE1 gene: 

NM_020771.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_020771  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020771
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_020771
                                 untagged cDNA clone in CMV expression vector: NM_020771 

Additional cDNA sequence: 

AB037741.1 AJ420474.1 AK124268.1 AK131207.1 AK291760.1 AK292683.1 AK294164.1 AK300314.1 
AK311633.1 AK316091.1 AL834202.1 BC034982.2 BC038119.1 BC041919.1 

7 DOTS entries:

DT.441135  DT.102825254  DT.101982466  DT.75198210  DT.100749435  DT.100671861  DT.95333293 

24/69 AceView cDNA sequences (see all 69 ):

AL706627 BM904923 AB037741 NM_020771 BU622562 BC034982 AA321932 AI872447 
AA678428 BC041919 AL834202 CA450182 AW317008 AJ420474 BU570591 AK131207 
BC038119 BI597060 BG705644 CA943195 BM739238 AK124268 BF439293 BI597053 

highest scoring ESTs for HACE1:

BG773252 BI459117 BU172263 CD109812 N48618 R71006 AK131207 BC034982 BC038119 AA321932 

Unigene Cluster for HACE1:

HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
Hs.434340  [show with all ESTs]
Unigene Representative Sequence: AB037741


GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for HACE1

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^
SP1:                                                                          -                                                                       -         
SP2:                                                                          -                       -     -     -     -     -                       -         
SP3:                                                                                                                                                  -         
SP4:                                                                                                                                                            

ExUns: 24a · 24b · 24c
SP1:                  
SP2:                  
SP3:                  
SP4:                  

About this scheme

ECgene alternative splicing isoforms for HACE1

3 Ensembl transcripts including schematic representations:
ENST00000262903  ENST00000369125  ENST00000369127  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

HACE1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for HACE1

1 / 2 / 3

4 probe-sets matching HACE1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
63130_at2, 3 U95-C 1 1.00 1.00 0.92 1.56 R71006 0.80 1.00 0.91 1

47428_r_at2, 3 U95-B 1 1.00 1.00 0.96 0.48 N48618 0.80 1.00 0.91 1

227471_at2, 3 U133-B 1 1.00 1.00 -- -- AB037741 0.60 1.00 0.82 1

227471_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  HACE1 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: AAATTTAGGA

SOURCE GeneReport for Unigene cluster: Hs.434340

UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2
Tissue specificity: Expressed in multiple tissues including heart, brain and kidney

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for HACE1 gene from 5/9 species (see all 9 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
HACE11   -- HECT domain and ankyrin repeat containing, E3 ubiquitin more 95.2(n)
98.35(a)
475010  XM_863241.1  XP_868334.1 
chimpanzee
(Pan troglodytes)
HACE11   -- HECT domain and ankyrin repeat containing, E3 ubiquitin more 99.82(n)
99.89(a)
462900  XM_518654.2  XP_518654.2 
cow
(Bos taurus)
HACE11   -- HECT domain and ankyrin repeat containing, E3 ubiquitin more 95.1(n)
98.53(a)
527565  XM_605958.3  XP_605958.3 
rat
(Rattus norvegicus)
Hace11   -- HECT domain and ankyrin repeat containing, E3 ubiquitin more 88.6(n)
96.92(a)
361866  XM_342160.3  XP_342161.3 
mouse
(Mus musculus)
Hace11, 5 105
HECT domain and ankyrin repeat containing, E3 ubiquitin more1, 5 90.94(n)1
97.03(a)1
2094621  NM_172473.21  NP_766061.11 
 AK0066875  AK0291625  (see all 14)
About this table        Species with no ortholog for HACE1

ENSEMBL Gene Tree for HACE1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for HACE1 gene
HUWE12  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/753 NCBI SNPs in HACE1 are shown (see all 753 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 191)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 6 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs24861431,2
A,C,F,H105415286(+) ATGTGG/AGCCTG 1 -- ng315Minor allele frequency- A:0.44EA EU WA 1720
rs125260101,2
C,F,H105415616(+) TAATCA/CGATGA 1 -- ng3111Minor allele frequency- C:0.21EU EA WA NA 920
--
rs178570381,2
H105339841(+) TGGCTA/GTTAAA 1 I/T mis1 ese34Minor allele frequency- G:0.00EU EA WA 418
rs22823251,2
F105415217(+) GCACAG/TAAGTT 1 -- ng311Minor allele frequency- T:0.03EA 1504
rs77526141,2
A,C,F,H105304960(+) ATATGA/GAAGCC 1 F/F syn1 ese312Minor allele frequency- G:0.14NA EU EA WA 1054
rs349796821,2
F105305017(-) GTTACT/AGAACT 1 T/T syn11Minor allele frequency- A:0.03NA 78
rs24996631,2
A,C,F,H,O105407263(+) GCCCGC/TGCATC 1 -- int116Minor allele frequency- T:0.47EA NA EU WA 1444
rs24996581,2
A,C,F,H,O105398105(-) CCCAAC/TGATAT 1 -- int116Minor allele frequency- N:0.00EA NA EU WA 1414
rs13169081,2
A,C,F,H,O105385119(+) TCATAC/TATCCT 1 -- int18Minor allele frequency- T:0.14EU EA WA NA 778
rs69405221,2
A,C,F,H105305511(+) gatccG/Agcagc 1 -- int14Minor allele frequency- A:0.14EU EA WA 418
About this table

HapMap Linkage Disequilibrium images for HACE1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 610876

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/12 PubMed articles for HACE1 gene (see all 12 ):
(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 57531 HGNC: 21033 AceView: HACE1 Ensembl:ENSG00000085382 euGenes: HUgn57531
ECgene: HACE1 H-InvDB: HACE1
(According to HUGE)
About This Section

HUGE: KIAA1320
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for HACE1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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 Predesigned and custom siRNAs for HACE1 Antibodies for HACE1
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for HACE1 Browse small molecules at Sigma-Aldrich
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 Antibodies for HACE1

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