Persius/hicric huggingface dataset:
CEP170
Centrosomal protein 170kDa, also known as CEP170, is a protein that in humans is encoded by the CEP170 gene.

# Function
The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with the intraflagellar transport protein 81 (IFT81), the SH3-domain containing protein PRAX-1, and is phosphorylated by cyclin dependent kinase 1 (                Cdk1            ) and polo-like kinase 1 (                PLK1            ), and functions in maintaining Microtubule organization, cell morphology and cilium stability.
The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined.
CEP290
Centrosomal protein of 290 kDa is a protein that in humans is encoded by the CEP290 gene. CEP290 is located on the Q arm of chromosome 12.

# Function
The gene CEP290 is a centrosomal protein that plays an important role in centrosome and cilia development.  This gene is vital in the formation of the primary cilium, a small antenna-like projections of the cell membrane that plays an important role in the photoreceptors at the back of the retina (which detect light and color) and in the kidney, brain, and many other organs of the body. Knocking down levels of the CEP290 gene transcript resulted in dramatic suppression of ciliogenesis in retinal pigment epithelial cells in culture, proving just how important CEP290 is to cilia formation.
On a molecular level, CEP290 has been shown to play a critical regulatory and structural role in primary cilium formation. Recent studies have implicated CEP290 as a microtubule and membrane binding protein that might serve as a structural link between the microtubule core of the cilium and the overlying ciliary membrane. Disruption of CEP290's microtubule binding domain in the rd16 mouse model of CEP290 disease  has been shown to result in rapid and dramatic retinal degeneration, demonstrating the importance of CEP290 microtubule binding in disease. The role of CEP290 in promoting ciliogensis is inhibited both by auto-regulatory domains found at either end of the CEP290 protein  and through CEP290's interaction with the inhibitory protein CP110.
The discovery of the CEP290 gene has led researchers to find another gene critical in retinal function, LCA5. Clinical trials involving gene replacement of these two genes have started in Philadelphia, where researchers are hopeful that Leber Congenital Amaurosis will one day be cured.

# Structure
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation.

# Clinical significance
Mutations in this gene have been associated with Joubert syndrome and nephronophthisis, and recently with a frequent form of Leber's Congenital Amaurosis, called LCA10.  The presence of antibodies against this protein is associated with several forms of cancer.
A mutation in this gene leads to infant and child blindness, a disease known as Leber Congenital Amaurosis. As of today, 35 different mutations in CEP290 are responsible for causing LCA. Other mutations in CEP290 have also been identified in causing Meckel Syndrome and Joubert Syndrome, a few among many syndromes. A defective CEP290 gene is usually the cause of these disorders due to abnormal cilia.  It is unknown how one mutation in a gene can cause so many different types of syndromes, particularly many of which affect the Central Nervous System.
CEP350
Centrosome-associated protein 350 is a protein that in humans is encoded by the CEP350 gene.
CEP350 is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. It primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. CEP350 is required to anchor microtubules at the centrosome. Furthermore, it increases the stability of growing centrioles.
It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined.
CEP85L
CEP85L, for "Centrosomal Protein 85kDa-Like" is a gene which encodes a protein that has identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. It has been shown to be related to the QT interval in GWAS studies.

# Sources
-  Database, GeneCards Human Gene. "CEP85L Gene - GeneCards | CE85L Protein | CE85L Antibody". www.genecards.org..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output q{quotes:"\"""\"""'""'"}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-lock-free a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-limited a,.mw-parser-output .cs1-lock-registration a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-subscription a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{display:none;font-size:100%}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}
-  Chambers JC, Zhao J, Terracciano CM,  et al. (2010). "Genetic variation in SCN10A influences cardiac conduction". Nature Genetics. 42 (2): 149152. doi:10.1038/ng.516. PMID 20062061.
CFAP47
CFAP47, or cilia and flagella associated protein 47, is a human gene encoded on the X chromosome. in humans. CXorf59 is located  on chromosome X at locus Xp21.1 of the human genome.

# Protein
CXorf59 is most commonly known as Cilia- and flagella- associated protein 47 (CFAP47) in other species.

# Gene
CFAP47 is a 3187 amino acid protein have seven splice variants and containing 64 exons. Genecard listed aliases for CXorf59 as Cilia and Flagella Associated Protein 47 (CFAP47), Calponin Homology Domain-Containing Protein 2 (CHDC2), FLJ3660, CXorf22, and CXorf30

# Orthologs and paralogs
Orthologs have been found in mammalia, aves, reptilia, amphibia, osteichthyes; sarcopterygii and actinopterygii, ascidiacea, gastropoda, cephalopoda, insecta, and demospongiae. There are no paralogs within the human genome.

# Expression
CXorf59 is a protein coding gene that is confirmed to be expressed in 27 different tissues. The liver, testis, thyroid, brain, and endometrium were higher in reads per kilobase of transcript (RPKM). While this gene is associated with cilia and flagella, there is no current functional information available on this protein. CXorf59 is also related to Calponin, a calcium binding protein. In the 324 to 403 base pair region, there is a Calponin homology domain. Calponin homology domains are found in cytoskeletal and signal transduction proteins. They are composed of four alpha helices and are actin-binding.
CHRNA1
Neuronal acetylcholine receptor subunit alpha-1, also known as nAChR1, is a protein that in humans is encoded by the CHRNA1 gene. The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors (nAchR).
The muscle acetylcholine receptor consists of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified.

# Interactions
Cholinergic receptor, nicotinic, alpha 1 has been shown to interact with CHRND.
CHRNA4
Neuronal acetylcholine receptor subunit alpha-4, also known as nAChR4, is a protein that in humans is encoded by the CHRNA4 gene. The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors (nAchR).
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. After binding acetylcholine, these pentameric receptors respond by undergoing an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. The protein encoded by this gene is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene appear to account for a small proportion of the cases of nocturnal frontal lobe epilepsy.

# Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.
-  The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602"..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output q{quotes:"\"""\"""'""'"}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-lock-free a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-limited a,.mw-parser-output .cs1-lock-registration a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-subscription a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{display:none;font-size:100%}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}
CHRNA5
Neuronal acetylcholine receptor subunit alpha-5, also known as nAChR5, is a protein that in humans is encoded by the CHRNA5 gene. The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors (nAchR).

# Function
Nicotinic acetylcholine receptors (nAChRs), such as CHRNA5, are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be (hetero)pentamers composed of homologous subunits.

# Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.
-  The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602"..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output q{quotes:"\"""\"""'""'"}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-lock-free a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-limited a,.mw-parser-output .cs1-lock-registration a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-subscription a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{display:none;font-size:100%}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}
CHRNA6
Cholinergic receptor, nicotinic, alpha 6, also known as nAChR6,  is a protein that in humans is encoded by the CHRNA6 gene. The CHRNA6 gene codes for the 6 nicotinic receptor subunit that is found in certain types of nicotinic acetylcholine receptors found primarily in the brain. Neural nicotinic acetylcholine receptors containing 6 subunits are expressed on dopamine-releasing neurons in the midbrain, and dopamine release following activation of these neurons is thought to be involved in the addictive properties of nicotine. Due to their selective localisation on dopaminergic neurons, 6-containing nACh receptors have also been suggested as a possible therapeutic target for the treatment of Parkinson's disease.

# Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.
-  The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602"..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output q{quotes:"\"""\"""'""'"}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-lock-free a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-limited a,.mw-parser-output .cs1-lock-registration a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-subscription a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{display:none;font-size:100%}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}
CHRNA7
Neuronal acetylcholine receptor subunit alpha-7, also known as nAChR7, is a protein that in humans is encoded by the CHRNA7 gene. The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors (nAchR).

# Function
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene.

# Interactions
CHRNA7 has been shown to interact with FYN.

# Gene expression
The CHRNA7 gene is primarily expressed in the posterior amygdalar nucleus and the field CA3 of Ammon's horn in the mouse, and in the mammillary body in humans. Gene expression patterns from the Allen Brain Atlases can be seen here.
CHRNA9
Neuronal acetylcholine receptor subunit alpha-9, also known as nAChR9, is a protein that in humans is encoded by the CHRNA9 gene. The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors (nAchR).
This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell function and is expressed in both the inner and outer hair cells (OHCs) of the adult cochlea, although expression levels in adult inner hair cells is low. The activation of the alpha9/10 nAChR is via olivocochlear activity, represented by cholinergic efferent synaptic terminals originating from the superior olive region of the brainstem.  The protein is additionally expressed in keratinocytes, the pituitary gland, B-cells and T-cells.
Selective block of 910 nicotinic acetylcholine receptors by the conotoxin RgIA has been shown to be analgesic in an animal model of nerve injury pain.
CHRNB2
Neuronal acetylcholine receptor subunit beta-2 is a protein that in humans is encoded by the CHRNB2 gene.
Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy.

# Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.
-  The interactive pathway map can be edited at WikiPathways: "NicotineDopaminergic_WP1602"..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output q{quotes:"\"""\"""'""'"}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-lock-free a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-limited a,.mw-parser-output .cs1-lock-registration a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-subscription a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{display:none;font-size:100%}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}
CHRNB4
Neuronal acetylcholine receptor subunit beta-4 is a protein that in humans is encoded by the CHRNB4 gene.

# Interactive pathway map
Click on genes, proteins and metabolites below to link to respective Wikipedia articles. 
-  The interactive pathway map can be edited at WikiPathways: "NicotineActivityonChromaffinCells_WP1603"..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output q{quotes:"\"""\"""'""'"}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-lock-free a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-limited a,.mw-parser-output .cs1-lock-registration a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-subscription a{background:url("")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{display:none;font-size:100%}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}
CHST11
Carbohydrate sulfotransferase 11 is an enzyme that in humans is encoded by the CHST11 gene.

# Clinical relevance
Mutations in this gene have been associated to susceptibility for osteoarthritis.

# Model organisms
Model organisms have been used in the study of CHST11 function. A conditional knockout mouse line called Chst11tm1a(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens performed:  - In-depth immunological phenotyping - in-depth bone and cartilage phenotyping
CHST14
Carbohydrate sulfotransferase 14 is an enzyme that in humans is encoded by the CHST14 gene.

# Gene
CHST14, a protein-coding gene, encodes for the enzyme carbohydrate sulfotransferase 14 (CHST14)/ dermatan 4-O-sulfotransferase (D4ST1).
In humans, CHST14 is positioned on the long arm (q) of chromosome 15 at position 15.1, from base pair 40,470,961 to base pair 40,474,571. The CHST14 gene is 3,611 bases long, composed of 376 amino acids, and has a molecular mass of 42997 Da.

# Ontology
CHST14 is implicated in fetal development of connective tissues throughout multiple organ systems. It is also implicated in regulation of proliferation and neurogenesis of neural precursor cells. It has been linked to inhibition of peripheral nerve regeneration in adults.

# Function
Dermatan 4-O-sulfotransferase enzymatically transfers an active sulfate to position 4 of N-acetyl-D-galactosamine residues of dermatan sulfate, stabilizing this glycosaminoglycan. Dermatan sulfate is essential to extracellular matrix formation and is found in extensively in skin, tendons, cartilage, and the aortic wall. Mutation of CHST14 results in a deficiency of dermatan sulfate, which disrupts glycosaminoglycan constituents in fibroblasts and impairs collagen fibril linkage within collagen bundles.

# Clinical significance
Mutation of CHST14 is associated with a specific type of EhlersDanlos syndromes,  recently specified as CHST14/D4ST1 deficiency. Previously, this condition has been independently referred to as adducted thumb-clubfoot syndrome, Ehlers-Danlos syndrome, Kosho type, musculocontractural Ehlers-Danlos syndrome, and Ehlers-Danlos type VIB. Currently, 40 patients from 27 families have been diagnosed with this autosomal recessive mutation. CHST14/D4ST1 deficiency is the first identified human disease that directly impacts dermatan sulfate production." Hallmark features include congenital malformations (extensive craniofacial defects, skin elasticity, joint laxity, multiple contractures) combined with progressive fragility of affected structures, with increased incidence of bruising, recurrent joint dislocations, pneumothorax, spinal degeneration, and other deformities.