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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] See more...
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
- GC06M104682
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 Visual Epilepsy. 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 UBE3C.
UniProtKB/Swiss-Prot Summary 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
- HGNC(21033)
- Entrez Gene(57531)
- Ensembl(ENSG00000085382)
- OMIM(610876)
- UniProtKB(Q8IYU2)
- Open Targets Platform(ENSG00000085382)
- 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 , Rfam classification and piRNA Summary for HACE1 Gene
Genomics for HACE1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HACE1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HACE1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HACE1
- Top Transcription factor binding sites by QIAGEN in the HACE1 gene promoter:
-
- AP-2gamma
- c-Myb
- C/EBPalpha
- E2F
- E2F-1
- Evi-1
- FOXJ2
- NRSF form 1
- NRSF form 2
- S8
Genomic Locations for HACE1 Gene
Genomic Locations for HACE1 Gene
- chr6:104,728,094-104,859,919
- (GRCh38/hg38)
- Size:
- 131,826 bases
- Orientation:
- Minus strand
- chr6:105,175,968-105,307,794
- (GRCh37/hg19)
- Size:
- 131,827 bases
- Orientation:
- Minus strand
Genomic View for HACE1 Gene
Genes around HACE1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q16.3 by HGNC
- 6q16.3 by Entrez Gene
- 6q16.3 by Ensembl
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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG57487.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG62066.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAH14462.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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
- G Biosciences Immunotag™ HACE1 Antibody
- Novus Biologicals Antibodies for HACE1
-
Abcam antibodies for HACE1
- Invitrogen Antibodies for HACE1 (AFLGC-HACE1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for HACE1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HACE1
- Origene Custom Protein Services for HACE1
- antibodies-online: Show 4 available HACE1 Proteins ranked by validation data
- Compare Top HACE1 Proteins
-
Quality Products:
-
Signalway Proteins for HACE1
-
Abcam proteins for HACE1
Assay Products
- antibodies-online: Show 12 available HACE1 Elisa Kits ranked by validation data
- Compare Top HACE1 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for HACE1
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
- InterPro:
- Blocks:
-
- Ankyrin repeat signature
- HECT domain (Ubiquitin-protein ligase)
- ProtoNet:
Suggested Antigen Peptide Sequences for HACE1 Gene
- GenScript: Design optimal peptide antigens:
-
- HECT domain and ankyrin repeat-containing E3 ubiquitin-protein ligase 1 (HACE1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HACE1 Gene
Function for HACE1 Gene
Molecular function for HACE1 Gene
- 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 CatalyticActivity:
- Reaction=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.; EC=2.3.2.26;.
- 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 | IEA,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 Models for HACE1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HACE1 - Select products 50% OFF >
- * HACE1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HACE1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HACE1
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HACE1
- Browse OriGene Inhibitory RNA Products For HACE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HACE1
Clone Products
- Applied Biological Materials (abm): Clones for HACE1 - Select products 50% OFF >
- * HACE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HACE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HACE1
Cell Line Products
-
Horizon Cell Lines for HACE1
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 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
- Endoplasmic reticulum (3)
- Nuclear bodies (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IBA,IDA | 21988917 |
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| 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 |
SMAD Signaling Network
-
|
|
| 3 | Ubiquitin-Proteasome Dependent Proteolysis |
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
- SMAD Signaling Network
- Ubiquitin-Proteasome Dependent Proteolysis
UniProtKB/Swiss-Prot Q8IYU2-HACE1_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for HACE1 Gene
Selected Interacting proteins:
Q8IYU2-HACE1_HUMAN
ENSP00000262903
for HACE1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for HACE1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000209 | protein polyubiquitination | IBA | 21873635 |
| GO:0006511 | ubiquitin-dependent protein catabolic process | IBA,IDA | 22036506 |
| GO:0007030 | Golgi organization | IDA | 21988917 |
| GO:0007049 | cell cycle | IEA | -- |
| GO:0016567 | protein ubiquitination | IEA,IDA | 21988917 |
Transcripts for HACE1 Gene
mRNA/cDNA for HACE1 Gene
- 11 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262903 4575 nts (view in UCSC)
- ENST00000369125 3102 nts (view in UCSC)
- ENST00000369127 5318 nts (view in UCSC)
- ENST00000416605 4729 nts (view in UCSC)
- ENST00000517424 1866 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HACE1 - Select products 50% OFF >
- * HACE1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HACE1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HACE1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HACE1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HACE1
- Browse OriGene Inhibitory RNA Products For HACE1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HACE1
Clone Products
- Applied Biological Materials (abm): Clones for HACE1 - Select products 50% OFF >
- * HACE1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for HACE1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products 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: |
Relevant External Links for HACE1 Gene
- GeneLoc Exon Structure for
- HACE1
Expression for HACE1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Zeugopod
-
Bone (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Zeugopod
-
Cartilage (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, MaxQB, and MOPED for HACE1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HACE1
SOURCE 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(4.6)
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
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 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Dog (Canis familiaris) |
Mammalia | HACE1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HACE1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | HACE1 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Hace1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hace1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | HACE1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | HACE1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hace1 30 |
|
||
| Str.20391 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.22891 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hace1 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TOM1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for HACE1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
Evolution for HACE1 Gene
- ENSEMBL:
- Gene Tree for HACE1 (if available)
- TreeFam:
- Gene Tree for HACE1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HACE1: view image
Paralogs for HACE1 Gene
Paralogs for HACE1 Gene
(31) SIMAP similar genes for HACE1 Gene using alignment to 9 proteins:
- HACE1_HUMAN
- E3W983_HUMAN
- E5RFX0_HUMAN
- E5RHI1_HUMAN
- H0YAU8_HUMAN
- H0YBH3_HUMAN
- H0YC01_HUMAN
- H0YC48_HUMAN
- L8E8L5_HUMAN
Variants for HACE1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HACE1 Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636307 | Likely Pathogenic: Psychomotor retardation | 104,849,166(-) | G/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 716137 | Benign: not provided | 104,796,938(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 718998 | Likely Benign: not provided | 104,785,317(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 722372 | Likely Benign: not provided | 104,772,027(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 723165 | Benign: not provided | 104,849,237(-) | C/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT |
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 |
|
|
| visual epilepsy |
|
|
| neuroblastoma |
|
|
| wilms tumor 1 |
|
|
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
- Open Targets Platform
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 23
- 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
- HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. (PMID: 26424145) Hollstein R … Bonthron DT (Journal of medical genetics 2015) 3 4
- The ubiquitin ligase HACE1 regulates Golgi membrane dynamics during the cell cycle. (PMID: 21988917) Tang D … Wang Y (Nature communications 2011) 3 4
- The E3 ubiquitin-ligase HACE1 catalyzes the ubiquitylation of active Rac1. (PMID: 22036506) Torrino S … Lemichez E (Developmental cell 2011) 3 4
ExternalLinks
Products for HACE1 Gene
- Custom Antibody ServicesOriGene Antibodies for HACE1
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- antibodies-online: Show 14 available HACE1 Antibodies ranked by validation data
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Sources for HACE1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (73) miRTarBase
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