Human Gene ANP32C (uc011cjk.2) Description and Page Index
Description: Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA. RefSeq Summary (NM_012403): Phosphoprotein 32 (PP32) is a tumor suppressor that can inhibit several types of cancers, including prostate and breast cancers. The protein encoded by this gene is one of at least two proteins that are similar in amino acid sequence to PP32 and are part of the same acidic nuclear phosphoprotein gene family. However, unlike PP32, the encoded protein is tumorigenic. The tumor suppressor function of PP32 has been localized to a 25 amino acid region that is divergent between PP32 and the protein encoded by this gene. This gene does not contain introns. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr4:165,118,159-165,118,863 Size: 705 Total Exon Count: 1 Strand: - Coding Region Position: hg19 chr4:165,118,159-165,118,863 Size: 705 Coding Exon Count: 1
ID:AN32C_HUMAN DESCRIPTION: RecName: Full=Acidic leucine-rich nuclear phosphoprotein 32 family member C; AltName: Full=Phosphoprotein 32-related protein 1; AltName: Full=Tumorigenic protein pp32r1; TISSUE SPECIFICITY: Expressed in activated stem cells, such as mobilized CD34+ cells and cord blood CD34+ cells, but not in resting bone marrow CD34+ cells. Expressed in a variety of neoplastic cell lines, mainly in prostatic adenocarcinoma cell lines. Not expressed in normal prostatic tissue. SIMILARITY: Belongs to the ANP32 family. SIMILARITY: Contains 4 LRR (leucine-rich) repeats. CAUTION: The His-140 polymorphism is uncertain. It has been found in prostatic cell line without corresponding normal tissue sample. Cells transfected with this variant expressed at least twice as much proteins than native cells.
Genetic Association Studies of Complex Diseases and Disorders
Blood Cells Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics.
Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
SCOP Domains: 52047 - RNI-like 52058 - L domain-like 52075 - Outer arm dynein light chain 1
ModBase Predicted Comparative 3D Structure on O43423
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.