PASD1 (PAS domain containing 1)

	Structure of the PASD1 gene from which (A) PASD1_v1 and (B) PASD1_v2 and transcribed. Lines indicate introns, boxes exons, the filled box the retained intron in PASD1_v1, "atg" the predicted start site and "tga" the predicted stop site (Liggins et al., 2004a).
Description	113205 bases.
Transcription	The PASD1 gene is alternatively spliced into two transcripts named PASD1_v1 and PASD1_v2. PASD1_v2 lacks intron 14 and a retained stop signal (Liggins et al., 2004a). Differential splicing is predicted to create additional novel PASD1 isoforms as a protein smaller than PASD1_v1 and PASD1_v2 has been detected in OCi-Ly3 and FEPD cells (Cooper et al., 2006). Transcripts found in 33% (4 of 12) acute myeloid leukaemia patients, 1 of 6 chronic myeloid leukaemia patients and 4 of 16 cell lines (Guinn et al., 2005). Transcripts have been found in 5 of 11 multiple myeloma cell lines including THIEL and RPMI8226, and 14 of 16 primary multiple myeloma samples (Sahota et al., 2006), 22 of 25 B- and T-cell malignancy cell lines (Liggins et al., 2010).

	Schematic illustration of the functional domains within the PASD1 protein. PASD1a protein translated from PASD1_v1 (A) and PASD1b translated from PASD1_v2 (B) are shown (Liggins et al., 2004a).
Description	Contains a Per Arnt Sim (PAS) domains in the N-terminal regions between aa 32-94 and aa 41-137 (Liggins et al., 2004a).
Expression	Expression highest in G361 (melanoma) and SW480 (colorectal adenocarcinoma) cell lines of a panel of nine tested. Expression in 25 of 68 solid tumours on matched tumour/normal arrays (Liggins et al., 2004a). Expression restricted in normal tissues, placenta and testes, not detected in panel of normal tissue cDNAs. Expression also found in K562, Jurkats (T-cell leukaemia), Hn5 (head and neck cancer) and highest in H1299 (lung cancer) cell lines by real-time PCR (Guinn et al., 2005). Of the normal tissues expression was restricted to testes and not found in a range of normal tissues including brain, liver, kidney, placenta, breast, uterus or ovary (Guinn et al., 2005; Cooper et al., 2006). Expression of PASD1 was demonstrated in OCI-Ly3 (non-germinal centre diffuse large B-cell lymphoma-derived cells), FEDP (ALK-negative anaplastic large-cell lymphoma), Granta519 (mantle cell lymphoma) KM-H2 (Hodgkin's lymphoma), K562 (chronic myeloid leukaemia) and Thiel (multiple myeloma) cell lines and 21/51 diffuse large B-cell lymphoma patients, 4/9 mantle cell lymphoma, 4/15 follicular lymphomas and a range of other tumour cells from patients with haematological malignancies (Cooper et al., 2006). Expression has been detected in the multiple myeloma cell lines THIEL and RPMI8226, in the testis and in two of four primary multiple myeloma tumour samples (Sahota et al., 2006). Not found in 78 basal cell carcinoma by real-time PCR (Ghafouri-Fard et al., 2010).
Localisation	In normal tissues expression was only found in the nuclei of a subpopulation of spermatogonia near the basal membrane in the testicular tubules (Cooper et al., 2006). PASD1 protein has shown variable expression. In OCI-Ly3 cells, PASD1 expression was found on the membrane and in the cytoplasm. Nuclear staining of KM-H2, K562 and Thiel cells, nuclear and cytoplasmic staining of Granta519 (Cooper et al., 2006).
Function	The protein is thought to be a transcription factor (Entrez Gene). No role in human cell cycle (Denniss and Guinn, unpublished data). Detected by virtue of patient humoral responses (Liggins et al., 2004b; Guinn et al., 2005), it has shown to stimulate CD3+ (Guinn et al., 2005), CD4+ (Ait-Tahar et al., 2011) and CD8+ T cell responses (Ait-Tahar et al., 2009; Joseph-Pietras et al., 2010; Hardwick et al., submitted) in mixed lymphocyte reactions (MLR) and cytotoxic T lymphocyte (CTL) assays.
Homology	PASD1 has been identified in cow, chicken and mouse where it is known as GM1141 (Entrez Gene). Similarity to the CLOCK gene in mice which is essential for circadian behaviour.

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