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Aliases for ANKHD1 Gene

Aliases for ANKHD1 Gene

  • Ankyrin Repeat And KH Domain Containing 1 2 3 5
  • HIV-1 Vpr-Binding Ankyrin Repeat Protein 3 4
  • VBARP 3 4
  • MASK 3 4
  • Multiple Ankyrin Repeats, Single KH-Domain Homolog 3
  • Ankyrin Repeat And KH Domain-Containing Protein 1 3
  • Multiple Ankyrin Repeats Single KH Domain 4
  • KIAA1085 4
  • PP2500 3
  • MASK1 3
  • HMASK 4

External Ids for ANKHD1 Gene

Previous GeneCards Identifiers for ANKHD1 Gene

  • GC05P139811
  • GC05P139763
  • GC05P139781
  • GC05P140467
  • GC05P140471
  • GC05P140479
  • GC05P140489
  • GC05P140495

Summaries for ANKHD1 Gene

Entrez Gene Summary 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.

Gene Wiki entry for ANKHD1 Gene

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

Enhancers for ANKHD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G140609 1.7 FANTOM5 Ensembl ENCODE 11.3 +209.1 209087 3.8 PKNOX1 ATF1 FOXA2 ARNT TCF12 ZNF766 CBX5 GATA2 FOS NCOA1 CD14 APBB3 TMCO6 SLC35A4 IK EIF4EBP3 ANKHD1 NDUFA2 SRA1 HBEGF
GH05G140250 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.9 -149.3 -149292 4.6 HDGF ATF1 FOXA2 PKNOX1 ARID4B SIN3A ZNF2 GATA2 ZNF143 ZNF207 PFDN1 APBB3 CD14 HBEGF PURA SRA1 ANKHD1 SLC35A4 EIF4EBP3 IK
GH05G140563 1.1 ENCODE 10.7 +163.1 163113 3.1 HDGF PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A YBX1 ZNF2 CD14 WDR55 DND1 ENSG00000200051 ANKHD1 ANKHD1-EIF4EBP3 ENSG00000253965 IK PFDN1 PCDHB16
GH05G140257 2.1 FANTOM5 Ensembl ENCODE dbSUPER 5.3 -141.7 -141677 5.5 CREB3L1 AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 NFYC PFDN1 HBEGF APBB3 CD14 ENSG00000253965 SLC4A9 TMCO6 SRA1 CYSTM1 ANKHD1
GH05G140594 1.4 FANTOM5 Ensembl ENCODE 7.8 +194.2 194187 4.0 CREB3L1 TAF1 MAX CEBPG ZIC2 RAD21 YY1 ZNF766 CREM MIER1 CD14 APBB3 SRA1 TMCO6 PCDHA1 PCDHA2 HARS SLC35A4 PCDHA5 EIF4EBP3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANKHD1 on UCSC Golden Path with GeneCards custom track

Promoters for ANKHD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000187791 -14 3201 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC

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

Genes around ANKHD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKHD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Alternative splice isoforms for ANKHD1 Gene

neXtProt entry for ANKHD1 Gene

Post-translational modifications for ANKHD1 Gene

  • Ubiquitination at posLast=17861786 and Lys2539
  • Modification sites at PhosphoSitePlus

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

Suggested Antigen Peptide Sequences for ANKHD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IWZ3

UniProtKB/Swiss-Prot:

ANKH1_HUMAN :
  • Belongs to the mask family.
Family:
  • Belongs to the mask family.
genes like me logo Genes that share domains with ANKHD1: view

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.

Gene Ontology (GO) - Molecular Function for ANKHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,IEA 22658674
GO:0005515 protein binding IPI 14743216
genes like me logo Genes that share ontologies with ANKHD1: view
genes like me logo Genes that share phenotypes with ANKHD1: view

Animal Model Products

CRISPR Products

miRNA for ANKHD1 Gene

miRTarBase miRNAs that target ANKHD1

Inhibitory RNA 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.

Gene Ontology (GO) - Cellular Components for ANKHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
genes like me logo Genes that share ontologies with ANKHD1: view

No data available for Subcellular locations from COMPARTMENTS for ANKHD1 Gene

Pathways & Interactions for ANKHD1 Gene

SuperPathways for ANKHD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with ANKHD1: view

No data available for Pathways by source and SIGNOR curated interactions for ANKHD1 Gene

Drugs & Compounds for ANKHD1 Gene

No Compound Related Data Available

Transcripts for ANKHD1 Gene

Unigene Clusters for ANKHD1 Gene

Ankyrin repeat and KH domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKHD1 Gene

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 ^
SP1: - - -
SP2: -
SP3:
SP4: - -
SP5:
SP6: -
SP7:
SP8:
SP9:

ExUns: 18a · 18b · 18c · 18d ^ 19 ^ 20 ^ 21 ^ 22 ^ 23
SP1:
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ANKHD1 Gene

GeneLoc Exon Structure for
ANKHD1
ECgene alternative splicing isoforms for
ANKHD1

Expression for ANKHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ANKHD1 Gene

This gene is overexpressed in Fetal ovary (9.4), Pancreas (8.5), Peripheral blood mononuclear cells (7.9), and Blymphocyte (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANKHD1 Gene



Protein tissue co-expression partners for ANKHD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANKHD1 Gene:

ANKHD1

SOURCE GeneReport for Unigene cluster for ANKHD1 Gene:

Hs.594084

mRNA Expression by UniProt/SwissProt for ANKHD1 Gene:

Q8IWZ3-ANKH1_HUMAN
Tissue specificity: Ubiquitous with high expression in cervix, spleen and brain. Expressed in hematopoietic cells with increased expression in leukemia cells. Isoform 2 is highly expressed in spleen with almost no expression in muscle and brain.

Evidence 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)
genes like me logo Genes that share expression patterns with ANKHD1: view

Primer Products

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.

Orthologs for ANKHD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EIF4EBP3 35
  • 96 (a)
OneToMany
ANKHD1 34
  • 93.79 (n)
dog
(Canis familiaris)
Mammalia ANKHD1 34 35
  • 94.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ankhd1 34 35
  • 89.98 (n)
rat
(Rattus norvegicus)
Mammalia Ankhd1 34
  • 89.8 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKHD1 35
  • 89 (a)
OneToMany
chicken
(Gallus gallus)
Aves ANKHD1 34 35
  • 81.53 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ankhd1 34
  • 71.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12610 34
zebrafish
(Danio rerio)
Actinopterygii ankhd1 34 35
  • 66.72 (n)
Dr.7647 34
fruit fly
(Drosophila melanogaster)
Insecta mask 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 67 (a)
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)

Evolution for ANKHD1 Gene

ENSEMBL:
Gene Tree for ANKHD1 (if available)
TreeFam:
Gene Tree for ANKHD1 (if available)

Paralogs for ANKHD1 Gene

Variants for ANKHD1 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for ANKHD1 Gene

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

Variation tolerance for ANKHD1 Gene

Residual Variation Intolerance Score: 1.46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.50; 55.30% of all genes are more intolerant (likely to be disease-causing)

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

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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

Sources for ANKHD1 Gene

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