Persius/hicric huggingface dataset:
ARID1A
AT-rich interactive domain-containing protein 1A is a protein that in humans is encoded by the ARID1A gene.

# Function
ARID1A is a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodelling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has an ARID domain, which is a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SWI/SNF complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SWI/SNF complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene.

# Clinical significance
This gene has been commonly found mutated in gastric cancers, ovarian clear cell carcinoma, and pancreatic cancer.
In breast cancer distant metastases acquire inactivation mutations in ARID1A not seen in the primary tumor, and reduced ARID1A expression confers resistance to different drugs such as trastuzumab and mTOR inhibitors. these findings provide a rationale for why tumors accumulate ARID1A mutations.  

# Research
Lack of this gene/protein seems to protect rats from some types of liver damage.

# Interactions
ARID1A has been shown to interact with SMARCB1 and SMARCA4.
ARID4A
AT rich interactive domain 4A (RBP1-like), also known as ARID4A, is a protein which in humans is encoded by the ARID4A gene.

# Function
The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described.

# Model organisms
Model organisms have been used in the study of ARID4A function. A conditional knockout mouse line, called Arid4atm1a(EUCOMM)Wtsi was generated as part of the International Knockout Mouse Consortium program  a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists  at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.
Twenty five tests were carried out and nine phenotypes were reported. Fewer homozygous mutant embryos were identified during gestation than expected, and in a separate study less than the predicted Mendelian ratio survived until weaning. Homozygous mutant male adults has a reduced body weight curve and a decreased grip strength. Homozygous mutant adults of both sexes had a decreased body weight as determined by DEXA, displayed vertebral fusion and had clinical chemistry abnormalities including hypoalbuminemia and decreased circulating fructosamine levels. They also had haematological defects and an increased NK cell number.

# Interactions
ARID4A has been shown to interact with Retinoblastoma protein.
ARID5B
AT-rich interactive domain-containing protein 5B is a protein that in humans is encoded by the ARID5B gene.
Alternative names for this gene include Modulator recognition factor 23.

# Genomics
The gene is located on the long arm of chromosome 10 (10q21.2) on the Watson (plus) strand. It spans 195,261 base pairs in length. It encodes a protein of predicted length and molecular weight of 1188 amino acids and 132.375 kilo Daltons respectively.

# Clinical importance
Through genome wide association studies (GWAS),some of the single nucleotide polymorphisms (SNPs) located in this gene has been noticed to be significantly associated with susceptibility 
as well as treatment outcomes  of childhood acute lymphoblastic leukaemia in ethnically diverse populations.
ARL13B
ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B  gene.

# Function
This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia.

# Clinical significance
Mutations in the ARL13B gene are associated with the Joubert syndrome.
ARMCX5
ARMCX5 is an armadillo repeatcontaining protein that is encoded by the X-linked ARMCX5 gene. It is conserved only in Eutheria, a specific group of placental mammals, but no further back in evolutionary time. ARMCX5 contains 3 ARM-like repeats, DUF364, and ARM-type fold.

# Features

# Splice Variants
ARMCX5 has 6 splice variants.

# ORTHOLOGS
ARMCX5 has ten orthologs.

# Paralogs
ARMCX5 has 8 paralogs listed by genecards: GPRASP2, ARMCX1, BHLHB9, ARMCX2, GPRASP1, ARMCX6, ARMCX10, and ARMCX3.

# Function
Proteins containing this ARMCX5 domain interact with numerous other proteins.  Through these interactions, they are involved in a wide variety of processes including carcinogenesis, control of cellular ageing and survival, regulation f circadian rhythm and lysosomal sorting of G-protein coupled receptors.
Because DUF364 contains a PLP-dependent transferase-like fold, the genomic context suggests that it may have a role in  anaerobic vitamin B12 biosynthesis.

# Expression
ARMCX5 is a highly ubiquitously expressed gene that has shown expression in many tissues.
ARMCX6
Armadillo repeat containing X-linked 6 is a protein that in humans is encoded by the ARMCX6 gene located on the X-chromosome.
It is one of six armadillo repeats containing X-linked proteins (ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX5, and ARMCX6 (this protein)).
The function of this protein is unknown at this time.

# Protein sequence

# Homology
ARMCX6 is conserved in many eukaryotic organisms.

# Orthologs

## Secondary Structure
The secondary structure of ARMCX6 is predicted to be similar to cyanase.  A comparison of the two sequences is shown below.

# Expression
Microarray data show that ARMCX6 is highly expressed during earliest stages of spermatogenesis in mice.
ARNTL2
Aryl hydrocarbon receptor nuclear translocator-like 2, also known as Mop9, Bmal2, Clif, or Arntl2, is a gene.
Arntl2 is a paralog to Arntl, which are both homologs of the Drosophila Cycle. Homologs were also isolated in fish, birds and mammals such as mice and humans. Based on phylogenetic analyses, it was proposed that Arntl2 arose from duplication of the Arntl gene early in the vertebrate lineage, followed by rapid divergence of the Arntl gene copy. The protein product of the gene interacts with both CLOCK and NPAS2 to bind to E-box sequences in regulated promoters and activate their transcription.  Although Arntl2 is not required for normal function of the mammalian circadian oscillator, it may play an important role in mediating the output of the circadian clock.  Perhaps because of this, there is relatively little published literature on the role of Arntl2 in regulation of physiology.
Arntl2 is a candidate gene for human type 1 diabetes.
In over expression studies, ARNTL2 protein forms a heterodimer with CLOCK to regulate E-box sequences in the Pai-1 promoter.  Recent work suggest that this interaction may be in concert with ARNTL/CLOCK heterodimeric complexes.
ARTS-1
Type 1 tumor necrosis factor receptor shedding aminopeptidase regulator, also known as endoplasmic reticulum aminopeptidase 1 (ARTS-1), is a protein which in humans is encoded by the ARTS-1 gene.
Endoplasmic reticulum amino peptidase 1 is active in the endoplasmic reticulum, which is involved in protein processing and transport. This protein is an aminopeptidase, which is an enzyme that cleaves other proteins into smaller fragments called peptides.

# Nomenclature
ARTS1 is also known as:
- ER aminopeptidase 1 (ERAP1) the name accepted by the Hugo Gene Nomenclature Committee
- ER aminopeptidase associated with antigen processing (ERAAP)
- Adipocyte-derived leucine aminopeptidase (ALAP)
- Puromycin-insensitive leucine aminopeptidase (PILS-AP)

# Function
ERAP1 has two major functions in the immune system:
- First, ERAP1 cleaves several proteins called cytokine receptors on the surface of cells. Cleaving these receptors reduces their ability to transmit chemical signals into the cell, which affects the process of inflammation.
- Second, ERAP1 trims peptides within the endoplasmic reticulum so that they can be loaded onto major histocompatibility complex (MHC) class I. These peptides are attached to MHC class I in the endoplasmic reticulum and exported to the cell surface, where they are displayed to the immune system. If the immune system recognizes the peptides as foreign (such as viral or bacterial peptides), it responds by triggering the infected cell to self-destruct.
ARTS-1  is a member of the M1 family of zinc metallopeptidases which acts as an aminopeptidase that degrades oligopeptides by cleavage starting at the amino terminus.  One of the functions of aminopeptidases is to degrade potentially toxic peptides in the cytosol.
ARTS-1 is a transmembrane protein that is localized to the endoplasmic reticulum.  It has been implicated in the following functions:
- Shedding of various cytokine receptors and decoy receptors
- Trimming of antigenic peptides before binding to MHC class I, affecting antigen presentation to cytotoxic T lymphocytes

# Clinical significance
Aminopeptidases play a role in the metabolism of several peptides that may be involved in blood pressure and the pathogenesis of essential hypertension. Mutations in the ARTS-1 have been linked to an increased risk of ankylosing spondylitis but only in HLA-B27 positive patients .
The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.
ARVD10
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 10; arrhythmogenic right ventricular cardiomyopathy 10;  ARVC10

# Overview
Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle.  It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.

# Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.

## Genetics
This variant ((610193) is associated with a mutation in the DSG2 gene  (125671) on chromosome 18q12.1-q12.

# Epidemiology and Demographics

# Natural History, Complications, Prognosis

# Diagnosis

## Symptoms

## Electrocardiogram

## Echocardiogram

## MRI
ARVD11
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 11; arrhythmogenic right ventricular cardiomyopathy 11;  ARVC11

# Overview
Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle.  It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.

# Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.

## Genetics
This variant (610476) is associated with a mutation in the DSC2 gene (125645) on chromosome 18q12.1.

# Epidemiology and Demographics

# Natural History, Complications, Prognosis

# Diagnosis

## Symptoms

## Electrocardiogram

## Echocardiogram

## MRI
ARVD12
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 12; arrhythmogenic right ventricular cardiomyopathy 12;  ARVC12

# Overview
Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle.  It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.

# Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.

## Genetics
This variant (611528) is associated with a mutation in the JUP gene (173325) on chromosome 17q21.

# Epidemiology and Demographics

# Natural History, Complications, Prognosis

# Diagnosis

## Symptoms

## Electrocardiogram

## Echocardiogram

## MRI
ASHRAE

# Overview
The American Society of Heating, Refrigerating and Air Conditioning Engineers (ASHRAE; pronounced 'ash'-'ray') is an international technical society for all individuals and organizations interested in heating, ventilation, air-conditioning, and refrigeration (HVAC&R). The Society, organized into Regions, Chapters, and Student Branches, allows exchange of HVAC&R knowledge and experiences for the benefit of the field's practitioners and the public.  ASHRAE provides many opportunities to participate in the development of new knowledge via, for example, research and its many Technical Committees.  These committees meet typically twice per year at the ASHRAE Annual and Winter Meetings.  A popular product show, the AHR Expo, is held in conjunction with each Winter Meeting.

# Publications
The ASHRAE Handbook is a four-volume resource for HVAC&R technology and is available in both print and electronic versions.  The volumes are Fundamentals, HVAC Applications, HVAC Systems and Equipment, and Refrigeration.  One of the four volumes is updated each year.
ASHRAE also publishes a well recognized series of standards and guidelines relating to HVAC systems and issues.  These standards are often referenced in building codes. Examples of some ASHRAE Standards are:
- Standard 34  Designation and Safety Classification of Refrigerants
- Standard 55  Thermal Environmental Conditions for Human Occupancy
- Standard 62.1  Ventilation for Acceptable Indoor Air Quality (versions: 2001 and earlier as "62", 2004 and beyond as "62.1")
- Standard 62.2 - Ventilation and Acceptable Indoor Air Quality in Low-Rise Residential Buildings
- Standard 90.1 - Energy Standard for Buildings Except Low-Rise Residential Buildings
- Standard 135  BACnet - A Data Communication Protocol for Building Automation and Control Networks
These and many other ASHRAE Standards are periodically reviewed, revised, and published, so the year of publication of a particular standard is important for code compliance.
The ASHRAE Journal is a monthly magazine published by ASHRAE. It includes peer-reviewed articles on the practical application of HVAC&R technology, information on upcoming meetings and product shows, classified and display advertising, and editorials. Members of ASHRAE receive the magazine and the current year's volume of the ASHRAE Handbook as  membership benefits.  ASHRAE also publishes many books, ASHRAE Transactions, and the International Journal of HVAC&R Research.

# History
ASHRAE was founded in 1894 at a meeting of like-minded engineers in New York City.  Until 1954 it was known as the American Society of Heating and Ventilating Engineers (ASHVE); in that year it changed its name to the American Society of Heating and Air-Conditioning Engineers (ASHAE).  Its current name and organization came from the 1959 merger of ASHAE and the American Society of Refrigerating Engineers (ASRE).  The result, ASHRAE, despite having 'American' in its name, is an influential international organization.  Its 55,000 members worldwide are dedicated to advancing the arts and sciences of HVAC&R.  ASHRAE's headquarters is in Atlanta, Georgia, USA.

# See Also
- The ASHRAE Handbook
ASRGL1
L-asparaginase is an enzyme that in humans is encoded by the ASRGL1 gene.

# Function
The ASRGL1 protein consists of 308 amino acids and is activated by autocleavage at amino acid 168 to form an alpha- and a beta-chain, which can dimerize into a heterodimer. The ASRGL1 enzyme has both L-asparaginase and beta-aspartyl peptidase activity and may be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions.
According to antibody-based profiling and transcriptomics analysis, ASRGL1 protein is present in all analysed human tissues, with highest expression in brain, in female tissues such as the uterine cervix and fallopian tube, and in male tissues as testis. Based on confocal microscopy ASRGL1 is mainly localized to the microtubules.

# Clinical significance
ASRGL1 is highly expressed in the normal endometrium and differentially expressed in endometrial cancer. Loss of ASRGL1 expression is an unfavorable prognostic feature for patients with endometrial cancer.
ATP1A2
ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide, also known as ATP1A2, is a protein which in humans is encoded by the ATP1A2 gene.

# Function
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+-ATPases. Na+/K+-ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+-ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit.

# Clinical significance
Mutations in the ATP1A2 gene has been implicated in the familial form of alternating hemiplegia of childhood.
ATP1A3
Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene.

# Function
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+-ATPases. Na+/K+-ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+-ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit.

# Clinical significance
Mutations in ATP1A3 are often seen in rapid-onset dystoniaparkinsonism (RDP) (also known as DYT12), and genetic testing is recommended in patients where this diagnosis is suspected.
In mice, mutations in this gene are associated with epilepsy. By manipulating this gene in the offspring of such mice, epilepsy can be avoided.
This gene is the likely genetic cause of alternating hemiplegia of childhood.
ATP2A1
Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 is an enzyme that in humans is encoded by the ATP2A1 gene.

# Function
This gene encodes one of the SERCA Ca2+-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction.

# Clinical significance
Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in two transcript variants encoding different isoforms.

# Interactions
ATP2A1 has been shown to interact with:
- SLN, and
- PLN.
ATP5C1
The human ATP5F1C gene encodes the gamma subunit of an enzyme called mitochondrial ATP synthase.
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes adenosine triphosphate(ATP) synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation.
ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, F0, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core.
Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14.
ATP5F1
ATP synthase subunit b, mitochondrial is an enzyme that in humans is encoded by the ATP5PB gene.
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel.
The b subunits are part of the peripheral stalk that links the F1 and FO complexes together, and which acts as a stator to prevent certain subunits from rotating with the central rotary element. The peripheral stalk differs in subunit composition between mitochondrial, chloroplast and bacterial F-ATPases. In bacterial and chloroplast F-ATPases, the peripheral stalk is composed of one copy of the delta subunit (homologous to OSCP in mitochondria), and two copies of subunit b in bacteria, or one copy each of subunits b and b' in chloroplasts and photosynthetic bacteria.
ATP8B3
The human gene ATP8B3 encodes the protein ATPase, aminophospholipid transporter, class I, type 8B, member 3.
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene encodes the member 3 of the phospholipid-transporting ATPase 8B.
Alternatively spliced transcript variants encoding different isoforms have been found for this gene.