Aliases for HACE1 Gene
Aliases for HACE1 Gene
External Ids for HACE1 Gene
- HGNC: 21033
- Entrez Gene: 57531
- Ensembl: ENSG00000085382
- OMIM: 610876
- UniProtKB: Q8IYU2
Previous GeneCards Identifiers for HACE1 Gene
- GC06M105176
- GC06M105221
- GC06M105282
- GC06M102619
Summaries for HACE1 Gene
-
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]
GeneCards Summary for HACE1 Gene
HACE1 (HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Diseases associated with HACE1 include Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures and Neuroblastoma. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and Rab GTPase binding. An important paralog of this gene is ITCH.
UniProtKB/Swiss-Prot for HACE1 Gene
-
E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens. May also act as a transcription regulator via its interaction with RARB.
Additional gene information for HACE1 Gene
- Monarch Initiative
- Search for HACE1 at DataMed
- Search for HACE1 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HACE1 Gene
Genomics for HACE1 Gene
GeneHancer (GH) Regulatory Elements for HACE1 Gene
Promoters and enhancers for HACE1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH06I104858 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 575.7 | +0.4 | 367 | 2 | PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF213 ZNF207 ZNF143 KLF13 SP3 | HACE1 LOC100422315 ENSG00000227535 | |
| GH06I104951 | Promoter/Enhancer | 2.8 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 5 | -96.0 | -96000 | 8.5 | HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 POLR2B | LIN28B LIN28B-AS1 HACE1 GC06M105046 RNU6-1106P | |
| GH06I104940 | Promoter/Enhancer | 1.9 | FANTOM5 Ensembl ENCODE dbSUPER | 5.5 | -81.2 | -81163 | 2.1 | PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 GLI4 ZNF2 ZNF48 ETS1 | LIN28B-AS1 HACE1 LIN28B | |
| GH06I104619 | Enhancer | 0.5 | dbSUPER | 15.6 | +237.7 | 237738 | 4.7 | CTCF ZNF189 ZNF529 RUNX3 | HACE1 GC06P104610 GC06M104657 | |
| GH06I104702 | Enhancer | 0.9 | Ensembl ENCODE | 6.7 | +155.1 | 155098 | 3.7 | ATF1 LEF1 GTF2E2 JUN ETV1 TEAD4 BACH1 ZBTB40 FOSL1 CTBP1 | HACE1 ENSG00000218173 RNU6-897P |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around HACE1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the HACE1 gene promoter:
Regulatory Element Products
Genomic Locations for HACE1 Gene
Genomic Locations for HACE1 Gene
- chr6:104,682,659-104,859,919
- (GRCh38/hg38)
- Size:
- 177,261 bases
- Orientation:
- Minus strand
- chr6:105,175,968-105,307,794
- (GRCh37/hg19)
Genomic View for HACE1 Gene
Genes around HACE1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q16.3 by Ensembl
- 6q16.3 by Entrez Gene
- 6q16.3 by HGNC
HACE1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HACE1 Gene
Proteins for HACE1 Gene
-
Protein details for HACE1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IYU2-HACE1_HUMAN
- Recommended name:
- E3 ubiquitin-protein ligase HACE1
- Protein Accession:
- Q8IYU2
- A8K6U5
- B3KY89
- B4DFM6
- B4DTQ4
- B7Z9X6
- E9PGP0
- Q5VU99
- Q5VUA0
- Q8ND12
- Q9P2M6
Protein attributes for HACE1 Gene
- Size:
- 909 amino acids
- Molecular mass:
- 102342 Da
- Quaternary structure:
-
- Interacts with RARB (By similarity). Interacts with RAB1 (RAB1A, RAB1B or RAB1C), RAB4 (RAB4A or RAB4B) and RAB11 (RAB11A or RAB11B); in a GTP-dependent manner. Interacts with RAC1; in a GTP-dependent manner. Interacts with the 26S proteasomal complex through the 20S core proteasomal subunit.
- SequenceCaution:
-
- Sequence=BAA92558.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG57487.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG62066.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAH14462.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH71890.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH74024.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16815.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for HACE1 Gene
Selected DME Specific Peptides for HACE1 Gene
- Q8IYU2:
-
- LLQFVTGSSRVP
- YFTRSFYKHILG
- TFSVETD
- LPTSSTC
- ENDILLVHRDSIFRSSCE
Post-translational modifications for HACE1 Gene
Other Protein References for HACE1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HACE1
-
Abcam antibodies for HACE1
- Invitrogen Antibodies for HACE1
- Search GeneTex for Antibodies for HACE1
-
Santa Cruz Biotechnology (SCBT) Antibodies for HACE1
Protein Products
-
OriGene Purified Proteins for HACE1
- Search Origene for MassSpec and Protein Over-expression Lysates for HACE1
- Origene Custom Protein Services for HACE1
- antibodies-online: Search results for 4 available HACE1 Proteins ranked by validation data
- Compare Top HACE1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for HACE1
-
Abcam proteins for HACE1
Assay Products
- antibodies-online: Search results for 10 available HACE1 Elisa Kits ranked by validation data
- Compare Top HACE1 Elisa Kits
-
Quality Products:
Domains & Families for HACE1 Gene
Gene Families for HACE1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for HACE1 Gene
Suggested Antigen Peptide Sequences for HACE1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for HACE1 Gene
Function for HACE1 Gene
Molecular function for HACE1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
- UniProtKB/Swiss-Prot Function:
- E3 ubiquitin-protein ligase involved in Golgi membrane fusion and regulation of small GTPases. Acts as a regulator of Golgi membrane dynamics during the cell cycle: recruited to Golgi membrane by Rab proteins and regulates postmitotic Golgi membrane fusion. Acts by mediating ubiquitination during mitotic Golgi disassembly, ubiquitination serving as a signal for Golgi reassembly later, after cell division. Specifically interacts with GTP-bound RAC1, mediating ubiquitination and subsequent degradation of active RAC1, thereby playing a role in host defense against pathogens. May also act as a transcription regulator via its interaction with RARB.
- UniProtKB/Swiss-Prot Induction:
- Down-regulated in sporadic Wilms tumor.
Enzyme Numbers (IUBMB) for HACE1 Gene
Phenotypes From GWAS Catalog for HACE1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | IEA,IDA | 21988917 |
| GO:0005515 | protein binding | IPI | 25026213 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0017137 | Rab GTPase binding | IDA | 21988917 |
| GO:0048365 | Rac GTPase binding | IPI | 22036506 |
Phenotypes for HACE1 Gene
- MGI mutant phenotypes for HACE1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for HACE1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for HACE1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for HACE1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HACE1 gene
- Search ViGene Biosciences for HACE1
CRISPR Products
-
OriGene CRISPR knockouts for HACE1
- genomics-online: gRNA clones - Search results for 82 available HACE1 gene related products
- Overview of 82 available HACE1 gene related products
- Applied Biological Materials CRISPR for HACE1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HACE1
- GenScript: Design CRISPR guide RNA sequences for HACE1
miRNA for HACE1 Gene
- miRTarBase miRNAs that target HACE1
-
- hsa-mir-16-5p (MIRT000854)
- hsa-mir-15a-5p (MIRT000855)
- hsa-mir-193b-3p (MIRT016517)
- hsa-mir-190a-3p (MIRT097918)
- hsa-mir-3924 (MIRT097925)
- hsa-mir-5011-5p (MIRT097927)
- hsa-mir-223-5p (MIRT238687)
- hsa-mir-6887-5p (MIRT484566)
- hsa-mir-7111-5p (MIRT484567)
- hsa-mir-6795-5p (MIRT484568)
- hsa-mir-6870-5p (MIRT484569)
- hsa-mir-5698 (MIRT484570)
- hsa-mir-4723-5p (MIRT484571)
- hsa-mir-3175 (MIRT484572)
- hsa-mir-6883-5p (MIRT484573)
- hsa-mir-6785-5p (MIRT484574)
- hsa-mir-4728-5p (MIRT484575)
- hsa-mir-8085 (MIRT484576)
- hsa-mir-149-3p (MIRT484577)
- hsa-mir-6731-5p (MIRT484578)
- hsa-mir-766-5p (MIRT484579)
- hsa-mir-4644 (MIRT484580)
- hsa-mir-4306 (MIRT484581)
- hsa-mir-185-5p (MIRT484582)
- hsa-mir-6133 (MIRT484583)
- hsa-mir-6130 (MIRT484584)
- hsa-mir-6129 (MIRT484585)
- hsa-mir-6127 (MIRT484586)
- hsa-mir-4510 (MIRT484587)
- hsa-mir-4419a (MIRT484588)
- hsa-mir-4756-5p (MIRT484589)
- hsa-mir-4739 (MIRT484590)
- hsa-mir-1321 (MIRT484591)
- hsa-mir-6758-5p (MIRT484592)
- hsa-mir-6856-5p (MIRT484593)
- hsa-mir-552-5p (MIRT623718)
- hsa-mir-1179 (MIRT623719)
- hsa-mir-892c-3p (MIRT623720)
- hsa-mir-4676-3p (MIRT623721)
- hsa-mir-452-5p (MIRT623722)
- hsa-mir-7703 (MIRT675622)
- hsa-mir-6720-5p (MIRT675623)
- hsa-mir-6512-3p (MIRT675624)
- hsa-mir-196a-3p (MIRT675625)
- hsa-mir-661 (MIRT675626)
- hsa-mir-4252 (MIRT675627)
- hsa-mir-4424 (MIRT675628)
- hsa-mir-6860 (MIRT675629)
- hsa-mir-612 (MIRT675630)
- hsa-mir-5189-5p (MIRT675631)
- hsa-mir-3187-5p (MIRT675632)
- hsa-mir-1285-3p (MIRT675633)
- hsa-mir-4793-3p (MIRT675634)
- hsa-mir-766-3p (MIRT675635)
- hsa-mir-939-3p (MIRT675636)
- hsa-mir-6849-3p (MIRT675637)
- hsa-mir-1273g-3p (MIRT675638)
- hsa-mir-508-5p (MIRT675639)
- hsa-mir-4797-5p (MIRT675640)
- hsa-mir-6083 (MIRT708109)
- hsa-mir-297 (MIRT708111)
- hsa-mir-567 (MIRT708112)
- hsa-mir-511-3p (MIRT708113)
- hsa-mir-1273e (MIRT761840)
- hsa-mir-3614-5p (MIRT766038)
- hsa-mir-3689d (MIRT767070)
- hsa-mir-377-5p (MIRT767406)
- hsa-mir-4459 (MIRT769277)
- hsa-mir-4537 (MIRT770158)
- hsa-mir-455-3p (MIRT770333)
- hsa-mir-5694 (MIRT775069)
- hsa-mir-6086 (MIRT775537)
- hsa-mir-6134 (MIRT775942)
- hsa-mir-6499-3p (MIRT776270)
- hsa-mir-6500-3p (MIRT776444)
- hsa-mir-6516-5p (MIRT777131)
- hsa-mir-665 (MIRT777559)
- hsa-mir-6840-3p (MIRT780136)
- hsa-mir-6851-5p (MIRT780408)
- hsa-mir-6880-5p (MIRT780831)
- hsa-mir-7847-3p (MIRT782148)
miRNA Products
- Search ViGene Biosciences for HACE1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for HACE1
- Browse OriGene Inhibitory RNA Products For HACE1
- genomics-online: shRNA clones - Search results for 82 available HACE1 gene related products
- Overview of 82 available HACE1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for HACE1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for HACE1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HACE1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for HACE1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for HACE1
-
ViGene Biosciences adenoviral particle packaged cDNA for HACE1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HACE1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HACE1 gene
No data available for Transcription Factor Targets and HOMER Transcription for HACE1 Gene
Localization for HACE1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HACE1 Gene
- Golgi apparatus, Golgi stack membrane. Cytoplasm. Endoplasmic reticulum. Note=A significant portion localizes to the endoplasmic reticulum. Targeted to Golgi membrane via its interaction with Rab proteins.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| nucleus | 4 |
| cytosol | 3 |
- Endoplasmic reticulum (3)
- Nuclear bodies (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IDA | 21988917 |
| GO:0005634 | nucleus | IBA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IDA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
Pathways & Interactions for HACE1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Class I MHC mediated antigen processing and presentation | ||
| 2 | SMAD Signaling Network | ||
| 3 | Ubiquitin-Proteasome Dependent Proteolysis | ||
| 4 | Innate Immune System |
.61
|
|
Pathways by source for HACE1 Gene
4 Reactome pathways for HACE1 Gene
2 Qiagen pathways for HACE1 Gene
UniProtKB/Swiss-Prot Q8IYU2-HACE1_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for HACE1 Gene
Selected Interacting proteins:
ENSP00000262903
Q8IYU2-HACE1_HUMAN
for HACE1 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0007030 | Golgi organization | IDA | 21988917 |
| GO:0007049 | cell cycle | IEA | -- |
| GO:0016567 | protein ubiquitination | IEA,IDA | 21988917 |
No data available for SIGNOR curated interactions for HACE1 Gene
Transcripts for HACE1 Gene
mRNA/cDNA for HACE1 Gene
- (20) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (69) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HACE1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HACE1
- genomics-online: gRNA clones - Search results for 82 available HACE1 gene related products
- Overview of 82 available HACE1 gene related products
- Applied Biological Materials CRISPR for HACE1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HACE1
- GenScript: Design CRISPR guide RNA sequences for HACE1
miRNA Products
- Search ViGene Biosciences for HACE1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for HACE1
- Browse OriGene Inhibitory RNA Products For HACE1
- genomics-online: shRNA clones - Search results for 82 available HACE1 gene related products
- Overview of 82 available HACE1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for HACE1 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for HACE1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HACE1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for HACE1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for HACE1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Cartilage (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Zeugopod
-
Bone (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Zeugopod
-
Limb (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Zeugopod
This gene is overexpressed in Bone marrow stromal cell (18.9) and Retina (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HACE1 Gene
NURSA nuclear receptor signaling pathways regulating expression of HACE1 Gene:
HACE1SOURCE GeneReport for Unigene cluster for HACE1 Gene:
Hs.434340mRNA Expression by UniProt/SwissProt for HACE1 Gene:
Q8IYU2-HACE1_HUMAN
Tissue specificity:
Expressed in multiple tissues including heart, brain and kidney.
Evidence on tissue expression from TISSUES for HACE1 Gene
- Nervous system(4.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HACE1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- heart
- rib
- rib cage
- scapula
- sternum
Abdomen:
- adrenal gland
- intestine
- kidney
- large intestine
- small intestine
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for HACE1
-
OriGene qPCR primer pairs and template standards for HACE1
- genomics-online: primer clones - Search results for 82 available HACE1 gene related products
- Overview of 82 available HACE1 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for HACE1 Gene
Orthologs for HACE1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HACE1 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | HACE1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | HACE1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HACE1 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Hace1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hace1 33 |
|
||
| chicken (Gallus gallus) |
Aves | HACE1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HACE1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hace1 33 |
|
||
| Str.20391 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.22891 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hace1 33 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TOM1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for HACE1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for HACE1 Gene
(31) SIMAP similar genes for HACE1 Gene using alignment to 9 proteins:
Variants for HACE1 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs750371878 | pathogenic, Spastic paraplegia and psychomotor retardation with or without seizures | 104,796,666(-) | G/A | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs751809418 | pathogenic, Spastic paraplegia and psychomotor retardation with or without seizures | 104,776,752(-) | TG/ | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
| rs761086584 | pathogenic, Spastic paraplegia and psychomotor retardation with or without seizures | 104,849,228(-) | G/A/T | 5_prime_UTR_variant, coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant | |
| rs869025280 | pathogenic, Spastic paraplegia and psychomotor retardation with or without seizures | 104,796,988(-) | G/A | coding_sequence_variant, non_coding_transcript_variant, stop_gained | |
| rs869025281 | pathogenic, Spastic paraplegia and psychomotor retardation with or without seizures | 104,750,442(-) | G/A | coding_sequence_variant, non_coding_transcript_variant, stop_gained |
Residual Variation Intolerance Score:
5.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.30;
25.85% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HACE1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HACE1 Gene
Disorders for HACE1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia and psychomotor retardation with or without seizures |
|
|
| neuroblastoma |
|
|
Search HACE1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HACE1_HUMAN- Note=Defects in HACE1 are a cause of Wilms tumor (WT). WT is a pediatric malignancy of kidney and one of the most common solid cancers in childhood. HACE1 is epigenetically down-regulated in sporadic Wilms tumor. Moreover, a t(5;6)(q21;q21) translocation that truncates HACE1 has been found in a child with bilateral, young-onset Wilms tumor (PubMed:19948536). {ECO:0000269 PubMed:17694067, ECO:0000269 PubMed:19948536}.
- Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS) [MIM:616756]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPPRS is an autosomal recessive neurodevelopmental disorder manifesting in infancy. Affected individuals show hypotonia and psychomotor retardation. Most develop seizures. {ECO:0000269 PubMed:26424145, ECO:0000269 PubMed:26437029}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for HACE1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for HACE1 Gene
Publications for HACE1 Gene
- Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney. (PMID: 15254018) Anglesio MS … Sorensen PH (Human molecular genetics 2004) 3 4 22 58
- 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. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
- HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. (PMID: 26424145) Hollstein R … Bonthron DT (Journal of medical genetics 2015) 3 4 58
- The ubiquitin ligase HACE1 regulates Golgi membrane dynamics during the cell cycle. (PMID: 21988917) Tang D … Wang Y (Nature communications 2011) 3 4 58
- The E3 ubiquitin-ligase HACE1 catalyzes the ubiquitylation of active Rac1. (PMID: 22036506) Torrino S … Lemichez E (Developmental cell 2011) 3 4 58
Products for HACE1 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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- Santa Cruz Biotechnology (SCBT) Antibodies for HACE1
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- genomics-online: cdna clones - Search results for 82 available HACE1 gene related products
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Sources for HACE1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
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- (39) Pseudogene
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- (48) Cell Signaling Technology
- (49) GenBank
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- (52) HUGE
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- (54) Leiden
- (55) miRBase
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- (58) PubMed
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- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
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- (84) Vector BioLabs
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