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HPMR

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176557

ankyrin repeat domain 1 (cardiac muscle) OKDB#: 4807
 Symbols: ANKRD1 Species: human
 Synonyms: ALRP, CARP, C-193, CVARP, MCARP, bA320F15.2,ALRP, CARP, C-193, CVARP, MCARP, bA320F15.2,  Locus: 10q23.31 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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DNA Microarrays
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link to BioGPS
General Comment Downstream of Hippo signaling

NCBI Summary: The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]
General function Cytoskeleton
Comment
Cellular localization Nuclear
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization Granulosa, Luteal cells
Comment Changes in granulosa cells gene expression associated with increased oocyte competence in bovine. Nivet AL et al. One of the challenges in mammalian reproduction is to understand basic physiology of oocyte quality. It is believed that the follicle status is linked to developmental competence of the enclosed oocyte. To explore the link between follicles and competence in cows, a previous experiment from our laboratory has developed an ovarian stimulation protocol that increases and then decreases oocyte quality according to the timing of oocyte recovery post FSH withdrawal (coasting). Using such protocol, we have obtained the granulosa cells associated with oocytes of different qualities at selected times of coasting. Transcriptome analysis was done with Embryogene microarray slides and validation by real-time PCR. Results shows that the major changes in gene expression occurred from 20h to 44h of coasting, when oocyte quality rising. Secondly, among up-regulated genes (20h to 44h), 25%were extracellular molecules, highlighting potential granulosa signaling cascades. Principal component analysis identified 2 patterns: one resembling the competence profile and another associated with follicle growth and atresia. Additionally, 3 major functional changes were identified: 1) the end of follicle growth (BMPR1B, IGF2, RELN), involving interactions with the extracellular matrix (TFPI2); angiogenesis (NRP1), including early hypoxia, and potentially oxidative stress (GFPT2, TF, VNN1) and 2) apoptosis (KCNJ8) followed by 3) inflammation (ANKRD1). This unique window of analysis indicates a progressive hypoxia during coasting mixed with an increase of apoptosis and inflammation. Potential signaling pathways leading to competence have been identified and will require downstream testing. This preliminary analysis supports the potential role of the follicular differentiation in oocyte quality both during competence increase and decrease phases.
Follicle stages
Comment DNA microarray showed increases after hCG induction of luteinization
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: Dec. 18, 2012, 10:30 a.m. by: dvpradeepreddy   email:
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