Aliases for ANKHD1 Gene
Aliases for ANKHD1 Gene
External Ids for ANKHD1 Gene
- HGNC: 24714
- Entrez Gene: 54882
- Ensembl: ENSG00000131503
- OMIM: 610500
- UniProtKB: Q8IWZ3
Previous GeneCards Identifiers for ANKHD1 Gene
- GC05P139811
- GC05P139763
- GC05P139781
- GC05P140467
- GC05P140471
- GC05P140479
- GC05P140489
- GC05P140495
Summaries for ANKHD1 Gene
-
This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]
GeneCards Summary for ANKHD1 Gene
ANKHD1 (Ankyrin Repeat And KH Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is ANKHD1-EIF4EBP3.
UniProtKB/Swiss-Prot for ANKHD1 Gene
-
May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKHD1 Gene
Genomics for ANKHD1 Gene
Regulatory Elements for ANKHD1 Gene
- Transcription factor binding sites by QIAGEN in the ANKHD1 gene promoter:
Regulatory Element Products
Genomic Location for ANKHD1 Gene
- Chromosome:
- 5
- Start:
- 140,401,814 bp from pter
- End:
- 140,539,856 bp from pter
- Size:
- 138,043 bases
- Orientation:
- Plus strand
Genomic View for ANKHD1 Gene
- Cytogenetic band:
-
- 5q31.3 by Ensembl
- 5q31.3 by Entrez Gene
- 5q31.3 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ANKHD1 Gene
Proteins for ANKHD1 Gene
-
Protein details for ANKHD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IWZ3-ANKH1_HUMAN
- Recommended name:
- Ankyrin repeat and KH domain-containing protein 1
- Protein Accession:
- Q8IWZ3
- A6NH85
- Q149P2
- Q8IWZ2
- Q8WY90
- Q96G77
- Q96GK0
- Q9H2U0
- Q9HA95
- Q9NWG4
- Q9UPR7
Protein attributes for ANKHD1 Gene
- Size:
- 2542 amino acids
- Molecular mass:
- 269458 Da
- Quaternary structure:
-
- Interacts with PTPN11. Isoform 2 interacts with HIV-1 VPR.
- SequenceCaution:
-
- Sequence=BAA91417.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB13958.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for ANKHD1 Gene
Post-translational modifications for ANKHD1 Gene
Other Protein References for ANKHD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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Custom Antibody ServicesOriGene Antibodies for ANKHD1
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Abcam antibodies for ANKHD1
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- antibodies-online Antibodies for ANKHD1: See all 38
- GeneTex ANKHD1 antibody for ANKHD1
Protein Products
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-
Abcam proteins for ANKHD1
Assay Products
- antibodies-online Kits for ANKHD1: See all 9
No data available for DME Specific Peptides for ANKHD1 Gene
Domains & Families for ANKHD1 Gene
Gene Families for ANKHD1 Gene
Protein Domains for ANKHD1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ANKHD1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8IWZ3- Family:
-
- Belongs to the mask family.
Function for ANKHD1 Gene
Molecular function for ANKHD1 Gene
- UniProtKB/Swiss-Prot Function:
- May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IDA,IEA | 22658674 |
| GO:0005515 | protein binding | IPI | 14743216 |
Phenotypes for ANKHD1 Gene
- GenomeRNAi human phenotypes for ANKHD1:
Animal Model Products
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CRISPR Products
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miRNA for ANKHD1 Gene
- miRTarBase miRNAs that target ANKHD1
miRNA Products
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Inhibitory RNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for ANKHD1
-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKHD1 Gene
Localization for ANKHD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ANKHD1 Gene
- Cytoplasm.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IBA | -- |
No data available for Subcellular locations from COMPARTMENTS for ANKHD1 Gene
Pathways & Interactions for ANKHD1 Gene
Interacting Proteins for ANKHD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0045087 | innate immune response | IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for ANKHD1 Gene
Transcripts for ANKHD1 Gene
mRNA/cDNA for ANKHD1 Gene
- (4) REFSEQ mRNAs :
- (25) Additional mRNA sequences :
- (365) Selected AceView cDNA sequences:
- (21) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ANKHD1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ANKHD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANKHD1
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miRNA Products
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Inhibitory RNA Products
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-
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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
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | · | 15c | · | 15d | ^ | 16 | ^ | 17a | · | 17b | · | 17c | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
| ExUns: | 18a | · | 18b | · | 18c | · | 18d | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||
| SP2: | - | - | |||||||||||||||
| SP3: | |||||||||||||||||
| SP4: | |||||||||||||||||
| SP5: | |||||||||||||||||
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| SP8: | |||||||||||||||||
| SP9: |
Expression for ANKHD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANKHD1 Gene
NURSA nuclear receptor signaling pathways regulating expression of ANKHD1 Gene:
ANKHD1SOURCE GeneReport for Unigene cluster for ANKHD1 Gene:
Hs.594084mRNA Expression by UniProt/SwissProt for ANKHD1 Gene:
Q8IWZ3-ANKH1_HUMANEvidence on tissue expression from TISSUES for ANKHD1 Gene
- Nervous system(4.8)
- Lung(4.7)
- Liver(4.5)
- Intestine(3.6)
- Eye(2.9)
- Blood(2)
Primer Products
-
OriGene qPCR primer pairs for ANKHD1
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKHD1 Gene
Orthologs for ANKHD1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | EIF4EBP3 35 |
|
OneToMany | |
| ANKHD1 34 |
|
||||
| dog (Canis familiaris) |
Mammalia | ANKHD1 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| mouse (Mus musculus) |
Mammalia | Ankhd1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ankhd1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ANKHD1 35 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | ANKHD1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ankhd1 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.12610 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ankhd1 34 35 |
|
||
| Dr.7647 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | mask 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for ANKHD1 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)
- chimpanzee (Pan troglodytes)
- 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 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 ANKHD1 Gene
Paralogs for ANKHD1 Gene
(18) SIMAP similar genes for ANKHD1 Gene using alignment to 12 proteins:
Variants for ANKHD1 Gene
| SNP ID | Clin | Chr 05 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000003066 | -- | 140,525,065(+) | GAGCC(A/G)AGTTC | intron-variant | |
| rs1000003539 | -- | 140,475,096(+) | TTTCT(A/G)TGTTA | intron-variant | |
| rs1000044560 | -- | 140,426,550(+) | TCTTG(A/G)GTGTT | intron-variant | |
| rs1000066991 | -- | 140,500,617(+) | CACTC(C/T)AGCAT | intron-variant | |
| rs1000103364 | -- | 140,472,644(+) | TTGTT(C/T)ATCAA | intron-variant, downstream-variant-500B |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2418311 | CNV | deletion | 18987734 |
| esv3606950 | CNV | loss | 21293372 |
| nsv1109730 | CNV | deletion | 24896259 |
| nsv330052 | CNV | deletion | 16902084 |
| nsv472329 | CNV | novel sequence insertion | 20440878 |
| nsv509090 | CNV | insertion | 20534489 |
Relevant External Links for ANKHD1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ANKHD1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKHD1 Gene
Disorders for ANKHD1 Gene
Relevant External Links for ANKHD1
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- ANKHD1
No disorders were found for ANKHD1 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKHD1 Gene
Publications for ANKHD1 Gene
- Molecular and functional characterization of a novel splice variant of ANKHD1 that lacks the KH domain and its role in cell survival and apoptosis. (PMID: 16098192) Miles M.C. … Ayyavoo V. (FEBS J. 2005) 2 3 4 64
- Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK. (PMID: 14557257) Poulin F. … Sonenberg N. (J. Biol. Chem. 2003) 3 4 22 64
- Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 2 3 4 64
- ANKHD1, ankyrin repeat and KH domain containing 1, is overexpressed in acute leukemias and is associated with SHP2 in K562 cells. (PMID: 16956752) Traina F. … Saad S.T.O. (Biochim. Biophys. Acta 2006) 3 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
Products for ANKHD1 Gene
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- Cyagen custom Knockout/knockin (KOKI) mouse models for ANKHD1
- VectorBuilder custom plasmid, inducible vectors for ANKHD1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANKHD1
- 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 ANKHD1 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
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- (20) STRING
- (21) IntAct
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- (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
- (61) DME
- (62) NCBI
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- (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
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- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
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- (92) Vector BioLabs
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- (95) BioSystems
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- (97) IUPHAR
- (98) BioGPS
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- (100) COMPARTMENTS
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- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




