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Aliases for ANKHD1 Gene

Aliases for ANKHD1 Gene

  • Ankyrin Repeat And KH Domain Containing 1 2 3
  • VBARP 3 4 6
  • MASK 3 4 6
  • HIV-1 Vpr-Binding Ankyrin Repeat Protein 3 4
  • KIAA1085 4 6
  • Multiple Ankyrin Repeats, Single KH-Domain Homolog 3
  • Ankyrin Repeat And KH Domain-Containing Protein 1 3
  • Multiple Ankyrin Repeats Single KH Domain 4
  • PP2500 3
  • MASK1 3
  • HMASK 4

External Ids for ANKHD1 Gene

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. Diseases associated with ANKHD1 include hiv-1. GO annotations related to this gene include RNA binding. An important paralog of this gene is TANC1.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKHD1 Gene

Genomics for ANKHD1 Gene

Genomic Location for ANKHD1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANKHD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKHD1 Gene

Regulatory Elements 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

Proteomics data for ANKHD1 Gene at MOPED

Post-translational modifications for ANKHD1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys164, Lys1302, Lys1786, and Lys2539

No data available for DME Specific Peptides for ANKHD1 Gene

Domains for ANKHD1 Gene

Gene Families for ANKHD1 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

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
Domain:
  • Contains 1 KH domain.:
    • Q8IWZ3
Family:
  • Belongs to the mask family.:
    • Q8IWZ3
Similarity:
  • Contains 25 ANK repeats.:
    • Q8IWZ3
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:0003676 nucleic acid binding --
GO:0003723 RNA binding --
GO:0005515 protein binding IPI 12812986
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with ANKHD1: view

Phenotypes for ANKHD1 Gene

GenomeRNAi human phenotypes for ANKHD1:
genes like me logo Genes that share phenotypes with ANKHD1: view

miRNA for ANKHD1 Gene

miRTarBase miRNAs that target ANKHD1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ANKHD1 Gene

Localization for ANKHD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKHD1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKHD1 Gene COMPARTMENTS Subcellular localization image for ANKHD1 gene
Compartment Confidence
nucleus 4
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for ANKHD1 Gene

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

Pathways for ANKHD1 Gene

SuperPathways for ANKHD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKHD1 Gene

None

No data available for Pathways by source for ANKHD1 Gene

Transcripts for ANKHD1 Gene

Unigene Clusters for ANKHD1 Gene

Ankyrin repeat and KH domain containing 1:
Representative Sequences:

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 for ANKHD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ANKHD1 Gene

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.
genes like me logo Genes that share expressions with ANKHD1: view

No data available for mRNA differential expression in normal tissues 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 ANKHD1 35
  • 93.79 (n)
  • 96.57 (a)
EIF4EBP3 36
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ANKHD1 35
  • 94.28 (n)
  • 97.2 (a)
ANKHD1 36
  • 96 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ankhd1 35
  • 89.98 (n)
  • 92.63 (a)
Ankhd1 16
Ankhd1 36
  • 92 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ANKHD1 36
  • 89 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 91 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ankhd1 35
  • 89.8 (n)
  • 92.62 (a)
chicken
(Gallus gallus)
Aves ANKHD1 35
  • 81.53 (n)
  • 87.21 (a)
ANKHD1 36
  • 85 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 82 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.12610 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ankhd1 35
  • 71.83 (n)
  • 74.48 (a)
zebrafish
(Danio rerio)
Actinopterygii ankhd1 35
  • 66.72 (n)
  • 74.94 (a)
ankhd1 36
  • 70 (a)
OneToMany
Dr.7647 35
fruit fly
(Drosophila melanogaster)
Insecta mask 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 67 (a)
OneToMany
Species with no ortholog for ANKHD1:
  • 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

genes like me logo Genes that share paralogs with ANKHD1: view

Variants for ANKHD1 Gene

Sequence variations from dbSNP and Humsavar for ANKHD1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
VAR_035291 -
VAR_035292 -
VAR_035293 -
VAR_048281 -

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

Variant ID Type Subtype PubMed ID
nsv509090 CNV Insertion 20534489
esv2418311 CNV Deletion 18987734
nsv330052 CNV Loss 16902084

Relevant External Links for ANKHD1 Gene

HapMap Linkage Disequilibrium report
ANKHD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKHD1 Gene

Disorders for ANKHD1 Gene

(1) MalaCards Diseases for ANKHD1 Gene

Search for ANKHD1 Gene in MalaCards »
genes like me logo Genes that share disorders with ANKHD1: view

No data available for UniProtKB/Swiss-Prot for ANKHD1 Gene

Publications for ANKHD1 Gene

  1. 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 23
  2. 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
  3. 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
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for ANKHD1 Gene

Sources for ANKHD1 Gene

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