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Putative homeodomain transcription factor 1

PHTF1, PHTF, putative homeodomain transcription factor 1
expressed in early pachytene spermatocytes and expression continues throughout spermatogenesis; may be localized to the Golgi and endoplasmic reticulum membranes [RGD, Feb 2006] (from NCBI)
Top mentioned proteins: HAD, PTPN22, CD226, iMpact, AGE
Papers on PHTF1
Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors.
Ziv et al., San Francisco, United States. In Hum Mol Genet, Jan 2016
Six SNPs were associated with differential transcript expression of seven nearby genes at FDR < 0.05 (BABAM1, DCLRE1B/PHTF1, PEX14, RAD51L1, SRGAP2D and STXBP4).
Analysis of the expression of PHTF1 and related genes in acute lymphoblastic leukemia.
Du et al., Guangzhou, China. In Cancer Cell Int, 2014
BACKGROUND: Previous study showed that downregulated BCL11B expression in T cell acute lymphoblastic leukemia (T-ALL) cell line Molt-4 inhibited cell proliferation and induce apoptosis, which may be related to PHTF1 gene overexpression.
LADA and T1D in Estonian population - two different genetic risk profiles.
Uibo et al., Tartu, Estonia. In Gene, 2012
METHODS: An ethnically homogenous population of Estonian origin, including 65 LADA patients, 154 patients with T1D, 260 patients with T2D and 229 non-diabetic controls, was genotyped for polymorphisms/haplotypes in HLA-DQB1, insulin gene (rs689, rs3842729), PHTF1-PTPN22 region (rs2476601, rs6679677), CTLA4 region (rs231806, rs16840252, rs5742909, rs231775, rs3087243, rs2033171), ICOS region (rs10932037, rs4675379), CD25 (rs706778), CD226(rs763361), NAA25 (rs17696736).
Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population.
Uibo et al., Tartu, Estonia. In Bmc Med Genet, 2009
Results supports the rs6679677 (PHTF1-PTPN22) SNP as a susceptibility factor for type 1 diabetes.
PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes.
Todd et al., Cambridge, United Kingdom. In Diabetes, 2008
RESULTS: Due to linkage disequilibrium, we were unable to distinguish between rs2476601/Trp(620) (P = 2.11 x10(-87)) and rs6679677 (P = 3.21 x10(-87)), an intergenic SNP between the genes putative homeodomain transcription factor 1 and round spermatid basic protein 1.
Delineation of a 1Mb breakpoint region at 1p13 in Wilms tumors by fine-tiling oligonucleotide array CGH.
Jones et al., United Kingdom. In Genes Chromosomes Cancer, 2007
The use of a 10 bp-spaced platform revealed that all four tumors in fact harbored different breakpoints, which targeted intragenic sequences in PHTF1, DCLRE1B, and NRAS, and an intergenic region immediately downstream of TRIM33.
Putative homeodomain transcription factor 1 interacts with the feminization factor homolog fem1b in male germ cells.
Raich et al., Saint George's, Grenada. In Biol Reprod, 2005
neither FEM1B nor PHTF1 are directly implicated in apoptosis in testis tissue
Expression, regulation, and immunolocalization of putative homeodomain transcription factor 1 (PHTF1) in rodent epididymis: evidence for a novel form resulting from proteolytic cleavage.
Raich et al., Paris, France. In Biol Reprod, 2005
PHTF1 is present in the proximal part of the epididymis and it appears when the rats reach 4 wk of age, the 56-kDa PHTF1 epididymal form could result from proteolytical processing.
Phtf1 is an integral membrane protein localized in an endoplasmic reticulum domain in maturing male germ cells.
Raich et al., Paris, France. In Biol Reprod, 2003
Phtf1 is a gene evolutionarily conserved from Drosophila to human that is abundantly expressed in testis.
Molecular characterization of a novel gene family (PHTF) conserved from Drosophila to mammals.
Raich et al., Créteil, France. In Genomics, 2000
PHTF1 (putative homeodomain transcriptional factor; HGMW-approved symbol PHTF1) is a putative homeobox gene located at band 1p11-p13 of the human genome.
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