Aliases for ANKRD13D Gene
Aliases for ANKRD13D Gene
External Ids for ANKRD13D Gene
- HGNC: 27880
- Entrez Gene: 338692
- Ensembl: ENSG00000172932
- OMIM: 615126
- UniProtKB: Q6ZTN6
Previous GeneCards Identifiers for ANKRD13D Gene
- GC11P066814
- GC11P067056
- GC11P063385
Summaries for ANKRD13D Gene
-
The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integral membrane proteins that bind specifically to Lys-63-linked ubiquitin chains on membrane-bound proteins, targeting those proteins for rapid internalization. [provided by RefSeq, Dec 2016]
GeneCards Summary for ANKRD13D Gene
ANKRD13D (Ankyrin Repeat Domain 13D) is a Protein Coding gene. An important paralog of this gene is ANKRD13B.
UniProtKB/Swiss-Prot for ANKRD13D Gene
-
Ubiquitin-binding protein that specifically recognizes and binds Lys-63-linked ubiquitin. Does not bind Lys-48-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD13D Gene
Genomics for ANKRD13D Gene
Regulatory Elements for ANKRD13D Gene
Enhancers for ANKRD13D Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ANKRD13D on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the ANKRD13D gene promoter:
Regulatory Element Products
Genomic Location for ANKRD13D Gene
- Chromosome:
- 11
- Start:
- 67,288,547 bp from pter
- End:
- 67,302,485 bp from pter
- Size:
- 13,939 bases
- Orientation:
- Plus strand
Genomic View for ANKRD13D Gene
Genes around ANKRD13D on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.2 by Ensembl
- 11q13.2 by Entrez Gene
- 11q13.2 by HGNC
ANKRD13D 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 ANKRD13D Gene
Proteins for ANKRD13D Gene
-
Protein details for ANKRD13D Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6ZTN6-AN13D_HUMAN
- Recommended name:
- Ankyrin repeat domain-containing protein 13D
- Protein Accession:
- Q6ZTN6
- D6RCN6
- Q0VAK0
- Q0VGC3
- Q6ZVD0
- Q86SU1
Protein attributes for ANKRD13D Gene
- Size:
- 518 amino acids
- Molecular mass:
- 58476 Da
- Quaternary structure:
-
- Interacts with EGFR (ubiquitinated); the interaction is direct and may regulate EGFR internalization.
Protein Expression for ANKRD13D Gene
Post-translational modifications for ANKRD13D Gene
Other Protein References for ANKRD13D Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ANKRD13D
- Novus Biologicals Antibodies for ANKRD13D
-
Abcam antibodies for ANKRD13D
- Invitrogen Antibodies for ANKRD13D
- GeneTex ANKRD13D antibody for ANKRD13D
Protein Products
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OriGene Purified Proteins for ANKRD13D
- Search Origene for MassSpec and Protein Over-expression Lysates for ANKRD13D
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- Search GeneTex for Proteins for ANKRD13D
Assay Products
No data available for DME Specific Peptides for ANKRD13D Gene
Domains & Families for ANKRD13D Gene
Gene Families for ANKRD13D Gene
Protein Domains for ANKRD13D Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ANKRD13D Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ANKRD13D Gene
Function for ANKRD13D Gene
Molecular function for ANKRD13D Gene
- UniProtKB/Swiss-Prot Function:
- Ubiquitin-binding protein that specifically recognizes and binds Lys-63-linked ubiquitin. Does not bind Lys-48-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane.
Phenotypes for ANKRD13D Gene
- MGI mutant phenotypes for ANKRD13D:
- inferred from 1 alleles
Animal Models for ANKRD13D Gene
- MGI Knock Outs for ANKRD13D:
-
- Ankrd13d tm2a(KOMP)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for ANKRD13D gene
-
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CRISPR Products
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-
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miRNA for ANKRD13D Gene
- miRTarBase miRNAs that target ANKRD13D
miRNA Products
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Inhibitory RNA Products
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Clone Products
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-
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
Cell Line Products
-
Horizon Cell Lines for ANKRD13D
-
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-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANKRD13D Gene
Localization for ANKRD13D Gene
Subcellular locations from UniProtKB/Swiss-Prot for ANKRD13D Gene
- Cell membrane. Late endosome. Note=Interaction with EGFR may enhance association with the cell membrane.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| endosome | 3 |
| mitochondrion | 2 |
| nucleus | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | -- |
| GO:0005768 | endosome | IEA | -- |
| GO:0005770 | late endosome | IEA | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for ANKRD13D Gene
No Data Available
No data available for Pathways by source and SIGNOR curated interactions for ANKRD13D Gene
Transcripts for ANKRD13D Gene
mRNA/cDNA for ANKRD13D Gene
- (6) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (171) Selected AceView cDNA sequences:
- (18) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ANKRD13D Gene
CRISPR Products
-
OriGene CRISPR knockouts for ANKRD13D
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANKRD13D
- GenScript: Design CRISPR guide RNA sequences for ANKRD13D
miRNA Products
- Search ViGene Biosciences for ANKRD13D
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ANKRD13D
- Browse OriGene Inhibitory RNA Products For ANKRD13D
-
ViGene Biosciences ready-to-package AAV shRNAs for ANKRD13D gene
Clone Products
-
OriGene ORF clones in human for ANKRD13D
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ANKRD13D
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANKRD13D
-
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
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 17 | ^ | 18 | ^ | 19 |
|---|---|---|---|---|---|
| SP1: | |||||
| SP2: | |||||
| SP3: | |||||
| SP4: | |||||
| SP5: | |||||
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| SP12: |
Expression for ANKRD13D Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Bone (Muscoskeletal System)
-
Spleen (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for ANKRD13D Gene
This gene is overexpressed in Whole Blood (x7.9).
This gene is overexpressed in Fetal Brain (41.0), Frontal cortex (10.8), and CD8 Tcells (6.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKRD13D Gene
NURSA nuclear receptor signaling pathways regulating expression of ANKRD13D Gene:
ANKRD13DSOURCE GeneReport for Unigene cluster for ANKRD13D Gene:
Hs.438673Evidence on tissue expression from TISSUES for ANKRD13D Gene
- Nervous system(4.7)
- Blood(4.3)
- Lung(4.2)
- Bone marrow(2)
Primer Products
-
OriGene qPCR primer pairs for ANKRD13D
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD13D Gene
Orthologs for ANKRD13D Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ANKRD13D 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ANKRD13D 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ANKRD13D 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ANKRD13D 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Ankrd13d 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ankrd13d 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ANKRD13D 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ANKRD13D 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ANKRD13D 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | ANKRD13D 35 |
|
OneToOne | |
| LOC562931 34 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010677 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG15118 34 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | C18F10.7 35 |
|
OneToMany |
- Species where no ortholog for ANKRD13D was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- 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)
- 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 squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for ANKRD13D Gene
Variants for ANKRD13D Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs386352277 | Uncertain significance | 67,290,346(+) | CACTG(G/T)AGACC | nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime | |
| rs1000210030 | -- | 67,290,219(+) | GTACT(G/T)CAGAG | intron-variant, upstream-variant-2KB | |
| rs1000217417 | -- | 67,293,245(+) | GAGCT(C/G)TACTG | intron-variant | |
| rs1000262406 | -- | 67,290,492(+) | GGGCA(C/T)CACCC | intron-variant, upstream-variant-2KB | |
| rs1000378333 | -- | 67,301,660(+) | GGACT(C/T)GCCCA | intron-variant, upstream-variant-2KB |
Residual Variation Intolerance Score:
12.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.18;
23.75% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for ANKRD13D Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ANKRD13D
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD13D Gene
Disorders for ANKRD13D Gene
Relevant External Links for ANKRD13D
No disorders were found for ANKRD13D Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD13D Gene
Publications for ANKRD13D Gene
- The Ankrd 13 family of UIM-bearing proteins regulates EGF receptor endocytosis from the plasma membrane. (PMID: 22298428) Tanno H. … Komada M. (Mol. Biol. Cell 2012) 3 4 64
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- The Ankrd13 Family of Ubiquitin-interacting Motif-bearing Proteins Regulates Valosin-containing Protein/p97 Protein-mediated Lysosomal Trafficking of Caveolin 1. (PMID: 26797118) Burana D. … Komada M. (J. Biol. Chem. 2016) 3 64
Products for ANKRD13D Gene
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- VectorBuilder custom plasmid, inducible vectors for ANKRD13D
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- 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
Sources for ANKRD13D Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
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- (15) Blocks
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- (24) DrugBank
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- (26) UniGene
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- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
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- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
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- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer