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Gene : ANKHD1 Homo sapiens

Name  ? ankyrin repeat and KH domain containing 1 Cytological Location  5q31.3
Brief Description  ankyrin repeat and KH domain containing 1
Description  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]
  • synonyms:
  • FLJ20288,
  • HGNC:24714,
  • MASK1,
  • FLJ11979,
  • KIAA1085,
  • OTTHUMG00000161610,
  • MASK1,
  • AF521882,
  • uc003lfr.3,
  • MASK,
  • MASK,
  • FLJ10042,
  • PP2500,
  • VBARP,
  • FLJ14127,
  • ANKHD1,
  • NM_017747
  • identifiers:
  • 54882,
  • ENSG00000131503,
  • ANKHD1

Genome feature

Region: gene ? Length: 138017  
Location: 5:140401833-140539849 Cyto location: 5q31.3

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

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Gene --> Proteins.


Gene Report --> GWAS hit


0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



0 Pathways

202 SNPs

5 Cross References

16 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results