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Aliases & Descriptions for HACE1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| 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 |
|
| | Search outside databases for aliases for HACE1 genePrevious GC identifers: GC06M105176 GC06M105221 |
Summaries for HACE1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2Function: E3 ubiquitin-protein ligase that may function in cellular proteins degradation |
Genomic Location for HACE1
(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) About This Section
| 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: 6q21HACE1 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
| Proteins for HACE1
(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)
About This Section
| 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 Q9P2M6Alternative splicing: 3 isoforms: Q8IYU2-1 Q8IYU2-2 Q8IYU2-3 REFSEQ proteins: NP_065822.2
ENSEMBL proteins: ENSP00000262903 ENSP00000358121 ENSP00000358123
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for HACE1: Assays for HACE1: | Protein
Domains/ Families for HACE1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, Q8IYU2Similarity: Contains 6 ANK repeatsSimilarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain | Gene Function for HACE1
(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
|               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 
              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, Q8IYU2Function: E3 ubiquitin-protein ligase that may function in cellular proteins degradationInduction: Down-regulated in sporadic Wilms tumorEnzyme Number (IUBMB): EC 6.3.2.- 1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Hace1):
2 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016874 | ligase activity |
IEA | -- | | GO:0016881 | acid-amino acid ligase activity |
IEA | -- | About this table | Pathways & Interactions for HACE1
(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.)
About This Section
| UniProtKB/Swiss-Prot: HACE1_HUMAN, Q8IYU2Pathway: Protein modification; protein ubiquitination 3 Interacting proteins for HACE1 (ENSP000002629033) via UniProtKB, MINT, and/or STRINGAbout this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006464 | protein modification process |
IEA | -- | | GO:0019941 | modification-dependent protein catabolic process |
IEA | -- | About this table
|
Drugs & Compounds for HACE1(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 Tocris compounds for HACE1
|
Transcripts 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
|               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
|
Expression for HACE1
(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 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, Q8IYU2Tissue specificity: Expressed in multiple tissues including heart, brain and kidney |
Orthologs for HACE1
(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
)
About this table Species with no ortholog for HACE1
ENSEMBL Gene Tree for HACE1 | Paralogs for HACE1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for HACE1 gene
- HUWE12
|
SNPs/Variants for HACE1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for HACE1 (up to first 250kb)
|
Disorders & Mutations for HACE1
(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
|
Medical News for HACE1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for HACE1 (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
):- Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)2, 3, 4 Nagase T....Ohara O. (2000)
- Differential expression of a novel ankyrin containing E3 ubiquitin- protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney. (PubMed id 15254018)1, 3, 4 Anglesio M.S....Sorensen P.H.B. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)3, 4 Mungall A.J.... Beck S. (2003)
- Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)3 Gudbjartsson D.F....Stefansson K. (2008)
- Aberrant methylation of the HACE1 gene is frequently detected in advanced colorectal cancer. (PubMed id 18630515)3 Hibi K....Sanada Y. (2008)
- A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)3 Hwang S.J....Fox C.S. (2007)
- The E3 ligase HACE1 is a critical chromosome 6q21 tumor suppressor involved in multiple cancers. (PubMed id 17694067)3 Zhang L....Penninger J.M. (2007)
- The full-ORF clone resource of the German cDNA Consortium. (PubMed id 17974005)4 Bechtel S....Schupp I. (2007)
- Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PubMed id 12421765)3 Nakayama M....Ohara O. (2002)
|
Search for HACE1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing HACE1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing HACE1
(According to HUGE)
About This Section
| |
Specialized Databases showing HACE1(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
|
| About This Section
| --
| Services for HACE1(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:

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Incremental update: 13 Oct 2009
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