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Snail homolog 1 (SNAI1) is involved in induction of the epithelial to mesenchymal transition (EMT), formation and maintenance of embryonic mesoderm, growth arrest, survival and cell migration. SNAI1 binds to 3 E-boxes of the E-cadherin gene promoter and represses its transcription. The nuclear protein encoded by SNAI1 is structurally identical to the Drosophila snail protein, and is considered as well to be vital for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. Among the diseases associated with SNAI1 are waardenburg syndrome type iid, and inappropriate adh syndrome.

PEST proteolytic signal containing nuclear protein (PCNP) is a nuclear protein involved in cell cycle regulation and tumorigenesis. The PCNP protein is ubiquitinated post-translationally by NIRF (an ubiquitin ligase). The PCNP exists as 3 isoforms produced by alternative splicing events.

Tumor-associated calcium signal transducer 2 (TACSTD2), is a member of to the EPCAM family. TACSTD2 is an intronless gene which encodes a carcinoma-associated antigen. TACSTD2 may act as a growth factor receptor and as a cell surface receptor that transduces calcium signals. Mutations of TACSTD2 have been associated with gelatinous drop-like corneal dystrophy.

LIM Homeobox Transcription Factor 1, Beta (LMX1B) is a part of LIM-homeodomain family of proteins which consists of 2 N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. LMX1B plays a role as a transcription factor and is necessary for the specification of dorsal limb fate at the zeugopodal and autopodal levels. Mutations in LMX1B are associated with nailpatella syndrome.

The CTX family of proteins (including ASAM) are type I transmembrane proteins within the Ig superfamily, which localize to junctional complexes between endothelial and epithelial cells and may play a role in cell-cell adhesion. CLMP has a role in adipocyte differentiation and development of obesity. CLMP is required for normal small intestine development.

Malignant T cell amplified sequence 1 (MCTS1) is an Anti-oncogene which takes part in cell cycle regulation by means of decreasing cell doubling time and encouraging-dependent growth and also by shorting the duration of G1 transit time and G1/S transition. MCTS1 also plays a role as translation enhancer. MCTS1 recruits the density-regulated protein/DENR and binds to the cap complex of the 5'-terminus of mRNAs, thereupon altering the mRNA translation profile; Up-regulates protein levels of BCL2L2, TFDP1, MRE11A, CCND1 and E2F1, while mRNA levels remains constant.

LCP2 (lymphocyte cytosolic protein 2) is an intracellular docking protein with a single SH2 recognition domain. LCP2 is implicated in T-cell antigen receptor mediated signaling. Moreover, LCP2 is phosphorylated by ZAP70 which leads to NF-AT as well as IL2 gene activation. B Cell Linker Protein Deficiency is one of the associated diseases with LCP2.

EIF1AY is comparable to eukaryotic translation initiation factor 1A (EIF1A). EIF1AY protein is essential for highest rate of protein biosynthesis. EIF1AY increases ribosome dissociation into subunits and is obligatory for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA.

Eukaryotic translation initiation factor 3 subunit J (EIF3J) is a member of the EIF-3 subunit J family. EIF3 has a crucial role in binding of initiator methionyl-tRNA and mRNA to the 40S ribosomal subunit to produce the 40S initiation complex. EIF3J binds to the aminoacyl (A) site and mRNA access channel of the 40S subunit, setting EIF3J directly in the ribosomal decoding center. In addition, EIF3J interacts with eIF1A and reduces 40S subunit affinity for mRNA. An elevated affinity for mRNA is restored upon enlistment of initiator tRNA, despite the fact EIF3J remains in the mRNA-binding cleft in the presence of tRNA.

COMMD1 is accountable for inhibition of TNF-induced NFκB p50 and n facilitats of biliary copper excretion within hepatocytes. High expression of COMMD1 is localized in liver tissue, with lower expressions in lung, heart, kidney and brain tissue. COMMD1 interacts directly with COMMD6 and ATP7B, and indirectly with IκB-β and COMMD7.

ELL Associated Factor 1 (EAF1) is a part of the EAF family and is expressed mainly in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, prostate, testis, small intestine and colon. EAF1 plays a role as a transcriptional transactivator of ELL and ELL2 elongation activities.

ECSIT homolog (ECSIT) is a ubiquitously expressed protein which has a vital role as an adaptor protein in the cytosolic signal transduction cascade events triggered by Toll receptor activation. ECSIT promotes proteolytic activation of MAP3K1. ECSIT is also involved in the BMP signaling pathway. ECSIT is essential for normal embryonic development. ECSIT was originally classified as a cytoplasmic protein interacting specifically with TNF receptor associated factor (TRAF)-6 in the TLR pathway. ECSIT gene knockdown results in gravely impaired complex I assembly and disrupted mitochondrial function.

Suppressor of Cytokine Signaling 3, also known as SOCS3 belongs to the SOCS family; in addition SOCS3 is a member of the STAT-induced STAT inhibitor (SSI). The SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of SOCS3 is induced by different cytokines, including IL6 and IL10. SOCS3 can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of SOCS3 have shown the roles of SOCS3 in the negative regulation of fetal liver hematopoiesis, and placental development.

Pallidin is involved in intracellular vesicle trafficking. PLDN cooperates with Syntaxin 13 that facilitates intracellular membrane fusion. A Few alternatively spliced transcript variations of this gene have been discovered however the full-length nature of several of these variants has not been determined. PLDN takes part in the creation of lysosome-related organelles, for example melanosomes and platelet-dense granules. PLDN is known to cooperate with Dysbindin, BLOC1S1, STX12, CNO, MUTED, SNAPAP and BLOC1S2.

GRPEL1 is a vital component of the PAM complex, a complex necessary for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. GRPEL1 protein controls the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins.

WIBG is a cooperateing partner of Mago-Y14. The Mago-Y14 heterodimer is a key protein of the EJC(exon junction complex) that is deposited on mRNAs as a consequence of splicing and influences postsplicing mRNA metabolism. WIBG is a cytoplasmic RNA-binding protein that is excluded from the nucleus by Crm1. WIBG relates directly with Mago-Y14 by means of its N-terminal domain.

TGFBI is an extracellular matrix protein induced by transforming growth factor (TGF)-beta 1. TGFBI protein is involved in cell growth, cell differentiation, wound healing and cell adhesion. In addition, some missense mutations of TGFBI were identified in families affected with human autosomal dominant corneal dystrophies. TGFBI gene encodes for a 683 amino-acid protein containing an RGD motif and four internal repeated domains which have highly conserved sequences founded in several species (Fasciclin domain).

Diphthamide Biosynthesis 3 Pseudogene 1 also known as DPH3P1 may stand for a processed pseudogene of DPH3 since it lacks the exon/intron structurefound in the functional gene. Yet, DPH3P1 does contain an intact open reading frame, though its translation has not been established.

Asialoglycoprotein Receptor 2 (ASGR2) is a hetero-oligomeric protein comprised of major and minor subunits, encoded by different genes. ASGR2 is a subunit of the asialoglycoprotein receptor; it is the less abundant minor subunit. The ASGR2 receptor is a transmembrane protein, which has a crucial role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues.

Sprouty Homolog 4 (SPRY4) is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. SPRY4 is positioned upstream of RAS activation. SPRY4 protein functions include suppressing the EGFR-transduced MAPK signaling pathway as well as impairing the formation of GTP-Ras.

KISS1 is a metastasis suppressor protein that suppresses metastases of melanomas and breast carcinomas without affecting tumorigenicity.KISS1 functions to inhibit chemotaxis and invasion, attenuating metastasis in malignant melanomas. KISS1 is involved in the regulation of cell-matrix adhesion. KISS1 plays a role in cytoskeletal reorganization. A polymorphism in the terminal exon of KISS1 mRNA results in two protein isoforms. Expression of KiSS1 is localized to specific regions of the hypothalamus in numerous species and is regulated by gonadal steroids and across the estrous cycle..KISS1 generates a c-terminally amidated peptide, metastin which functions as the endogenous ligand of the g-protein coupled receptor gpr54. Activation of the receptor inhibits cell proliferation and cell migration, key characteristics of tumor metastasis.

GAS7 is mainly expressed in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 is involved in neuronal development by promoting maturation and morphological differentiation of cerebellar neurons. Inhibition of GAS7 production in terminally differentiating cultures of embryonic murine cerebellum impedes neurite outgrowth. Over-expression of GAS7 initiats the development of human osteosarcoma.

TSSC4 is a member of the TSSC4 family. TSSC4 protein is one of quite a few tumor-suppressing subtransferable fragments found in the imprinted gene domain of 11p15.5, a significant tumor-suppressor gene section. Modifications in this section are linked to the Beckwith-Wiedemann syndrome, rhabdomyosarcoma, Wilms tumor, adrenocortical carcinoma, and breast, ovarian, and lung cancer. TSSC4 takes part in malignancies and disease that include this section in addition to hematopoietic cell function. TSSC4 is broadly expressed in virtually all adult tissues, and is found in fetal liver, brain, lung and kidney.