Aliases for ANKRD13A Gene
Aliases for ANKRD13A Gene
External Ids for ANKRD13A Gene
- HGNC: 21268
- Entrez Gene: 88455
- Ensembl: ENSG00000076513
- OMIM: 615123
- UniProtKB: Q8IZ07
Previous HGNC Symbols for ANKRD13A Gene
- ANKRD13
Previous GeneCards Identifiers for ANKRD13A Gene
- GC12P108921
- GC12P110437
- GC12P107452
Summaries for ANKRD13A Gene
GeneCards Summary for ANKRD13A Gene
ANKRD13A (Ankyrin Repeat Domain 13A) is a Protein Coding gene. Diseases associated with ANKRD13A include Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia. An important paralog of this gene is ANKRD13D.
UniProtKB/Swiss-Prot for ANKRD13A 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 Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD13A Gene
Genomics for ANKRD13A Gene
Regulatory Elements for ANKRD13A Gene
Enhancers for ANKRD13A Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ANKRD13A on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for ANKRD13A Gene
- Chromosome:
- 12
- Start:
- 109,999,169 bp from pter
- End:
- 110,039,763 bp from pter
- Size:
- 40,595 bases
- Orientation:
- Plus strand
Genomic View for ANKRD13A Gene
Genes around ANKRD13A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q24.11 by Ensembl
- 12q24.11 by Entrez Gene
- 12q24.11 by HGNC
ANKRD13A 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 ANKRD13A Gene
Proteins for ANKRD13A Gene
-
Protein details for ANKRD13A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IZ07-AN13A_HUMAN
- Recommended name:
- Ankyrin repeat domain-containing protein 13A
- Protein Accession:
- Q8IZ07
- O60736
Protein attributes for ANKRD13A Gene
- Size:
- 590 amino acids
- Molecular mass:
- 67619 Da
- Quaternary structure:
-
- Interacts (via the UIM 3 and 4 repeats) with EGFR (ubiquitinated); the interaction is direct, inhibited by ANKRD13A monoubiquitination and may regulate EGFR internalization.
- SequenceCaution:
-
- Sequence=AAC17109.1; Type=Frameshift; Positions=343, 348; Evidence={ECO:0000305};
Protein Expression for ANKRD13A Gene
Post-translational modifications for ANKRD13A Gene
- Monoubiquitinated, inhibits interaction with ubiquitinated EGFR.
- Ubiquitination at Lys19, Lys27, Lys217, posLast=239239, posLast=247247, Lys257, Lys279, posLast=400400, and posLast=410410
- Modification sites at PhosphoSitePlus
Other Protein References for ANKRD13A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ANKRD13A
- Invitrogen Antibodies for ANKRD13A
- GeneTex ANKRD13A antibody for ANKRD13A
Protein Products
-
OriGene Purified Proteins for ANKRD13A
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- Search GeneTex for Proteins for ANKRD13A
-
Abcam proteins for ANKRD13A
Assay Products
No data available for DME Specific Peptides for ANKRD13A Gene
Domains & Families for ANKRD13A Gene
Gene Families for ANKRD13A Gene
Protein Domains for ANKRD13A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ANKRD13A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8IZ07UniProtKB/Swiss-Prot:
AN13A_HUMAN :- The UIM repeats 3 and 4 are required for binding to ubiquitinated EGFR and Lys-63-linked ubiquitin.
- Domain:
-
- The UIM repeats 3 and 4 are required for binding to ubiquitinated EGFR and Lys-63-linked ubiquitin.
Function for ANKRD13A Gene
Molecular function for ANKRD13A 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 ANKRD13A Gene
- GenomeRNAi human phenotypes for ANKRD13A:
Animal Model Products
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Taconic Biosciences Mouse Models for ANKRD13A
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for ANKRD13A gene
-
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- Search ViGene Biosciences for ANKRD13A
CRISPR Products
-
OriGene CRISPR knockouts for ANKRD13A
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANKRD13A
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miRNA for ANKRD13A Gene
- miRTarBase miRNAs that target ANKRD13A
-
- hsa-mir-192-5p (MIRT026934)
- hsa-mir-204-5p (MIRT054350)
- hsa-mir-3149 (MIRT705688)
- hsa-mir-297 (MIRT705689)
- hsa-mir-675-3p (MIRT705690)
- hsa-mir-6828-5p (MIRT705691)
- hsa-mir-3663-3p (MIRT705692)
- hsa-mir-4521 (MIRT705693)
- hsa-mir-6865-3p (MIRT705694)
- hsa-mir-556-5p (MIRT705695)
- hsa-mir-6871-3p (MIRT705696)
- hsa-mir-4274 (MIRT705697)
- hsa-mir-651-3p (MIRT705698)
miRNA Products
- Search ViGene Biosciences for ANKRD13A
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ANKRD13A
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-
ViGene Biosciences ready-to-package AAV shRNAs for ANKRD13A gene
Clone Products
-
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- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANKRD13A
-
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 ANKRD13A
-
ViGene Biosciences adenoviral particle packaged cDNA for ANKRD13A gene
-
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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 , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD13A Gene
Localization for ANKRD13A Gene
Subcellular locations from UniProtKB/Swiss-Prot for ANKRD13A Gene
- Cell membrane. Late endosome. Note=Interaction with EGFR may enhance association with the cell membrane.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 3 |
| endosome | 3 |
| nucleus | 2 |
| extracellular | 1 |
| mitochondrion | 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 | IDA | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for ANKRD13A Gene
No Data Available
Interacting Proteins for ANKRD13A Gene
Selected Interacting proteins:
Q8IZ07-AN13A_HUMAN
ENSP00000261739
for ANKRD13A Gene via
IID
STRING
MINT
No data available for Pathways by source and SIGNOR curated interactions for ANKRD13A Gene
Transcripts for ANKRD13A Gene
mRNA/cDNA for ANKRD13A Gene
- (14) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (278) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ANKRD13A Gene
CRISPR Products
-
OriGene CRISPR knockouts for ANKRD13A
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANKRD13A
- GenScript: Design CRISPR guide RNA sequences for ANKRD13A
miRNA Products
- Search ViGene Biosciences for ANKRD13A
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ANKRD13A
- Browse OriGene Inhibitory RNA Products For ANKRD13A
-
ViGene Biosciences ready-to-package AAV shRNAs for ANKRD13A gene
Clone Products
-
OriGene ORF clones in human for ANKRD13A
- 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 ANKRD13A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANKRD13A
-
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: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | · | 16c | · | 16d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
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| SP8: |
Expression for ANKRD13A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
- Outflow Tract
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for ANKRD13A Gene
This gene is overexpressed in Whole Blood (x5.8).
This gene is overexpressed in Bone (25.9), Lymph node (10.5), and Peripheral blood mononuclear cells (8.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKRD13A Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ANKRD13A Gene:
ANKRD13ASOURCE GeneReport for Unigene cluster for ANKRD13A Gene:
Hs.528703Evidence on tissue expression from TISSUES for ANKRD13A Gene
- Liver(4.2)
- Blood(4.1)
- Nervous system(2.7)
- Lymph node(2.2)
Primer Products
-
OriGene qPCR primer pairs for ANKRD13A
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD13A Gene
Orthologs for ANKRD13A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ANKRD13A 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ANKRD13A 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ANKRD13A 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ANKRD13A 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Ankrd13a 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ankrd13a 34 16 35 |
|
||
| chicken (Gallus gallus) |
Aves | ANKRD13A 34 35 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.9215 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4388 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ankrd13a 34 35 |
|
||
| Dr.27327 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG15118 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | C18F10.7 34 35 |
|
- Species where no ortholog for ANKRD13A 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)
- 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)
- lizard (Anolis carolinensis)
- 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)
- wheat (Triticum aestivum)
Paralogs for ANKRD13A Gene
(5) SIMAP similar genes for ANKRD13A Gene using alignment to 5 proteins:
Variants for ANKRD13A Gene
| SNP ID | Clin | Chr 12 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000103581 | -- | 110,009,129(+) | CAGGC(C/T)GGAGT | intron-variant | |
| rs1000136168 | -- | 110,008,863(+) | CTGGG(C/T)GACAG | intron-variant | |
| rs1000198569 | -- | 110,015,291(+) | TCTTT(C/T)GGTTT | intron-variant | |
| rs1000324268 | -- | 110,008,909(+) | CTGCA(-/T)TTTTT | intron-variant | |
| rs1000424766 | -- | 110,008,633(+) | TAATC(C/G)CAGCA | intron-variant |
Residual Variation Intolerance Score:
18.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.59;
65.24% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for ANKRD13A Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD13A Gene
Disorders for ANKRD13A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| inclusion body myopathy with paget disease of bone and frontotemporal dementia |
|
|
Search ANKRD13A in MalaCards
View complete list of genes associated with diseases
Relevant External Links for ANKRD13A
No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD13A Gene
Publications for ANKRD13A 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
- 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
- Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PMID: 10508479) Scanlan M.J. … Old L.J. (Int. J. Cancer 1999) 2 3 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
- Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64
Products for ANKRD13A Gene
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- Horizon Cell Lines for ANKRD13A
- Cyagen custom Knockout/knockin (KOKI) mouse models for ANKRD13A
- VectorBuilder custom plasmid, inducible vectors for ANKRD13A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANKRD13A
- 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 ANKRD13A 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
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (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
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
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- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
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- (92) Vector BioLabs
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- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
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- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
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- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer