Homo sapiens Protein: ANKHD1
Summary
InnateDB Protein IDBP-240940.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ANKHD1
Protein Name ankyrin repeat and KH domain containing 1
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000378211
InnateDB Gene IDBG-48558 (ANKHD1)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:16098192}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:16098192, ECO:0000269PubMed:16956752}.
Disease Associations
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. {ECO:0000269PubMed:14557257, ECO:0000269PubMed:16098192, ECO:0000269PubMed:16956752}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated
Total 17 [view]
Protein-Protein 16 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0044822 poly(A) RNA binding
Biological Process
Cellular Component
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR002110 Ankyrin repeat
IPR020683 Ankyrin repeat-containing domain
PFAM PF00023
PF13606
PF11929
PF12796
PRINTS PR01415
PIRSF
SMART SM00248
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8IWZ3
PhosphoSite PhosphoSite-Q8IWZ3
TrEMBL
UniProt Splice Variant
Entrez Gene 54882
UniGene Hs.714342
RefSeq NP_060448
HUGO HGNC:24714
OMIM 610500
CCDS CCDS43372
HPRD 16489
IMGT
EMBL AB029008 AC008438 AC011399 AF217646 AF258557 AF521882 AF521883 AK000904 AK022041 BC004457 BC009420 BC009909 BC117677 BC117678 BC127127 BC150486 CH471062
GenPept AAG23760 AAG41779 AAH04457 AAH09420 AAH09909 AAI17678 AAI17679 AAI27128 AAI50487 AAO14943 AAO14944 BAA83037 BAA91417 BAB13958 EAW62055 EAW62058