Version 5.4
| Homo sapiens Gene: ANKHD1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-48558.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | ANKHD1 | ||||||||||||||||||
| Gene Name | ankyrin repeat and KH domain containing 1 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000131503 | ||||||||||||||||||
| Encoded Proteins |
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
ankyrin repeat and KH domain containing 1
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009] 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 5:140401814-140539856 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q31.3 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
| No orthologs found for this gene | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | Hs.594084 Hs.714342 | ||||||||||||||||||
| RefSeq | NM_001197030 NM_017747 NM_017978 NM_024668 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS4225 CCDS43371 CCDS43372 CCDS75319 | ||||||||||||||||||
| HPRD | 16489 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||