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... See more...

Aliases for ANKHD1 Gene

Aliases for ANKHD1 Gene

  • Ankyrin Repeat And KH Domain Containing 1 2 3 5
  • MASK 2 3 4
  • Ankyrin Repeat And KH Domain-Containing Protein 1 3 4
  • HIV-1 Vpr-Binding Ankyrin Repeat Protein 3 4
  • KIAA1085 2 4
  • MASK1 2 3
  • VBARP 3 4
  • Multiple Ankyrin Repeats, Single KH-Domain Homolog 3
  • Multiple Ankyrin Repeats Single KH Domain 4
  • FLJ20288 2
  • FLJ11979 2
  • FLJ10042 2
  • FLJ14127 2
  • PP2500 3
  • ANKHD1 5
  • HMASK 4

External Ids for ANKHD1 Gene

Previous GeneCards Identifiers for ANKHD1 Gene

  • GC05P139811
  • GC05P139763
  • GC05P139781
  • GC05P140467
  • GC05P140471
  • GC05P142378
  • GC05P142484
  • GC05P142596
  • GC05P142823
  • GC05P140479
  • GC05P140489
  • GC05P140495
  • GC05P140504
  • GC05P140511
  • GC05P140516
  • GC05P140521
  • GC05P140525

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. Gene Ontology (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 Summary 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

Additional gene information for ANKHD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKHD1 Gene

Genomics for ANKHD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANKHD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J140397 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 631.6 -0.5 -468 6.9 ZNF221 CEBPG SP1 HNRNPL CREB1 TEAD4 PRDM10 ZNF629 REST TFE3 ANKHD1 ANKHD1-EIF4EBP3 ENSG00000249637 PURA HARS2 PCDHB18P PCDHGA6 APBB3 SRA1 SLC35A4
GH05J140513 Promoter 0.6 EPDnew 600.1 +111.6 111576 0.1 GABPA NR2F2 HNF4A RXRA SP1 ANKHD1 EIF4EBP3 lnc-EIF4EBP3-1 piR-31540 ANKHD1-EIF4EBP3
GH05J140486 Promoter 0.3 EPDnew 611.5 +85.1 85097 0.1 ANKHD1 ENSG00000200051 ANKHD1-EIF4EBP3 EIF4EBP3 RF00017-4951 piR-43583-454
GH05J140458 Promoter 0.3 EPDnew 600.2 +56.9 56932 0.1 ANKHD1 piR-43583-454 RF00017-4951 ANKHD1-EIF4EBP3 EIF4EBP3
GH05J140509 Promoter 0.3 EPDnew 600.1 +107.9 107878 0.1 piR-31540 ANKHD1 EIF4EBP3 IK NDUFA2 SLC35A4 APBB3 lnc-EIF4EBP3-1 ANKHD1-EIF4EBP3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKHD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKHD1

Top Transcription factor binding sites by QIAGEN in the ANKHD1 gene promoter:
  • C/EBPalpha
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for ANKHD1 Gene

Genomic Locations for ANKHD1 Gene
chr5:140,401,814-140,539,856
(GRCh38/hg38)
Size:
138,043 bases
Orientation:
Plus strand
chr5:139,781,399-139,929,163
(GRCh37/hg19)
Size:
147,765 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. Interacts with NOD2 (PubMed:27812135).
    SequenceCaution:
    • Sequence=BAA91417.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB13958.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKHD1 Gene

neXtProt entry for ANKHD1 Gene

Post-translational modifications for ANKHD1 Gene

  • Ubiquitination at Lys1786 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ANKHD1 Gene

GenScript: Design optimal peptide antigens:
  • Multiple ankyrin repeats single KH domain (ANKH1_HUMAN)
  • ANKHD1 protein (Q8IWG5_HUMAN)

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.

Phenotypes From GWAS Catalog for ANKHD1 Gene

Gene Ontology (GO) - Molecular Function for ANKHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,HDA 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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKHD1

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKHD1 gene
Compartment Confidence
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ANKHD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with ANKHD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ANKHD1 Gene

Pathways & Interactions for ANKHD1 Gene

PathCards logo

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 21873635
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

mRNA/cDNA for ANKHD1 Gene

4 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKHD1

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

Expression for ANKHD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ANKHD1 Gene



Protein tissue co-expression partners for ANKHD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.2)
  • Liver(4.2)
  • Lung(4)
genes like me logo Genes that share expression patterns with ANKHD1: view

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 31
  • 96 (a)
OneToMany
ANKHD1 30
  • 93.79 (n)
Dog
(Canis familiaris)
Mammalia ANKHD1 30 31
  • 94.28 (n)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 91 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Ankhd1 30 31
  • 89.98 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ankhd1 30
  • 89.8 (n)
Oppossum
(Monodelphis domestica)
Mammalia ANKHD1 31
  • 89 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ANKHD1 30 31
  • 81.53 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 82 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ankhd1 30
  • 71.83 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12610 30
Zebrafish
(Danio rerio)
Actinopterygii ankhd1 30 31
  • 66.72 (n)
OneToMany
Dr.7647 30
Fruit Fly
(Drosophila melanogaster)
Insecta mask 31
  • 28 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 67 (a)
OneToMany
Species where no ortholog for ANKHD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKHD1: view image

Paralogs for ANKHD1 Gene

Paralogs for ANKHD1 Gene

(18) SIMAP similar genes for ANKHD1 Gene using alignment to 12 proteins:

  • ANKH1_HUMAN
  • D6RHC4_HUMAN
  • E9PDP5_HUMAN
  • F6WFL0_HUMAN
  • H0Y472_HUMAN
  • H0Y4P6_HUMAN
  • H0Y785_HUMAN
  • H0Y7Y3_HUMAN
  • H3BLS9_HUMAN
  • H7C2E1_HUMAN
  • H7C2F5_HUMAN
  • Q8IWG5_HUMAN
genes like me logo Genes that share paralogs with ANKHD1: view

Variants for ANKHD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKHD1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
775225 Benign: not provided 140,537,517(+) C/G MISSENSE_VARIANT
rs1051309 - p.Gly1586Ser
rs17850570 - p.Leu175Met
rs17850572 - p.Gly228Cys
rs3752704 - p.Asn1760Ser

Additional dbSNP identifiers (rs#s) for ANKHD1 Gene

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)

Additional Variant Information for ANKHD1 Gene

Human Gene Mutation Database (HGMD)
ANKHD1
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

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 MC … Ayyavoo V (The FEBS journal 2005) 2 3 4
  2. Gene fusion and overlapping reading frames in the mammalian genes for 4E-BP3 and MASK. (PMID: 14557257) Poulin F … Sonenberg N (The Journal of biological chemistry 2003) 3 4 23
  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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  4. Characterization and Genetic Analyses of New Genes Coding for NOD2 Interacting Proteins. (PMID: 27812135) Thiébaut R … Ollendorff V (PloS one 2016) 3 4
  5. 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 ST (Biochimica et biophysica acta 2006) 3 4

Products for ANKHD1 Gene

Sources for ANKHD1 Gene