SII-SWORD/CoKE huggingface dataset:
Protein phosphatase 1 regulatory subunit 26 (PPP1R26)
Type: Family

Protein phosphatase 1 regulatory subunit 26 (PPP1R26) interacts with and inhibits the phosphatase activity of protein phosphatase 1 (PP1) complexes . The protein is widely expressed in multiple tissues in humans . Although its exact biological function is not known, PPP1R26 may positively regulate cell proliferation, and has oncogenic characteristics - its expression in NIH3T3 fibroblasts has been shown to cause tumour development in nude mice .
Mastermind-like domain-containing protein 1 (MAMLD1)
Type: Family

MAMLD1 (also called CXorf6) transactivates the promoter of Hes3 (a noncanonical Notch target gene hairy/enhancer of split 3), augments testosterone production, and contains the SF1(steroidogenic factor 1) target sequence .
Tastin (Tastin)
Type: Family

Tastin could be involved with bystin and trophinin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation .
MyoD family inhibitor/MyoD family inhibitor domain-containing protein (MDFI/MDFIC)
Type: Family

This family consists of MyoD family inhibitor (I-mfa, MDFI) and MyoD family inhibitor domain-containing protein.

I-mfa acts as a transcriptional activator or repressor. It retains nuclear Zic family proteins (ZIC1, ZIC2 and ZIC3) in the cytoplasm and consequently inhibits their transcriptional activation ability .
Uncharacterised protein C6orf15 (C6orf15)
Type: Family

Uncharacterised protein C6orf15 (also known as STG) was initially isolated in rhesus monkey taste buds . The human homologue is also expressed in skin and tonsils . In mice, C6orf15 has been shown to be secreted into the extracellular matrix where it binds to a number of different extracellular matrix proteins .
RIPOR family member 3 (RIPOR3)
Type: Family

The FAM65 family of proteins includes the members FAM65A (also known as Rho family-interacting cell polarization regulator 1), FAM65B (also known as Rho family-interacting cell polarization regulator 2) and FAM65C (also known as RIPOR family member 3). FAM65A has been shown to localise to the podocyte major processes and cell body in the kidney . FAM65B is upregulated early during muscle cell differentiation , and occurs in two isoforms, long and short, which are differentially expressed in different tissues. FAM65C also appears to occur in two isoforms, produced by alternative splicing.
Leucine-rich repeat-containing 41 (Leu_rpt_41)
Type: Family

Leucine-rich repeat-containing 41 protein is probably a substrate recognition component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins .
Ceroid-lipofuscinosis neuronal protein 5 (CLN5)
Type: Family

This protein family consists of Bis(monoacylglycero)phosphate synthase CLN5 and CLN5-like proteins. CLN5, in the secreted form, catalyses the synthesis of bis(monoacylglycero)phosphate (BMP) via transacylation of 2 molecules of lysophosphatidylglycerol (LPG) . BMP (also known as lysobisphosphatidic acid) plays a key role in the formation of intraluminal vesicles and in maintaining intracellular cholesterol homeostasis . CLN5 can use only LPG as the exclusive lysophospholipid acyl donor for base exchange and displays BMP synthase activity towards various LPGs (LPG 14:0, LPG 16:0, LPG 18:0, LPG 18:1) with a higher preference for longer chain lengths . Defects in CLN5 are the cause of neuronal ceroid lipofuscinosis type 5 (CLN5), also known as Finnish variant late-infantile neuronal ceroid lipofuscinosis (vLINCL). Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterised by intracellular accumulation of autofluorescent liposomal material .

CLN5 also plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane . CLN5 also exhibits palmitoyl protein thioesterase (S-depalmitoylation) activity in vitro and most likely plays a role in protein S-depalmitoylation .
GOLM1/CASC4 family (GOLM1/CASC4)
Type: Family

This entry represents proteins from the Golgi membrane protein 1 (GOLM1) and cancer susceptibility candidate 4 (CASC4), also known as GOLM2, family. GOLM1 is a Golgi-localised protein that is upregulated by viral infection , but whose precise function is unknown. CASC4, like GOLM1, appears to be a single pass membrane protein.
Small ribosomal subunit protein mS26 (Ribosomal_mS26)
Type: Family

This entry includes members of the 28S ribosomal protein S26 (also known as mS26 or MRPS26) family. Members of this family are a component of the mitochondrial ribosome small subunit (28S), which comprises a 12S rRNA and about 30 distinct proteins.
Protein phosphatase 1 regulatory subunit 36 (Pro_pase_1_reg_su_36)
Type: Family

Members of this protein family inhibit phosphatase activity of protein phosphatase 1 (PP1) complexes .
Neuritin family (Neuritin_fam)
Type: Family

This entry represents the neuritin family of proteins, including neuritin-A and B from Xenopus laevis and neuritin-like protein from human and mouse. Neuritin has been shown to promote neurite outgrowth and arborisation in primary embryonic hippocampal and cortical cultures . Its expression is induced by neuronal activity and by the activity-regulated neurotrophins BDNF and NT-3 .
Interleukin-33 (IL-33)
Type: Family

This entry represents interleukin-33 (IL33), which that binds to and signals through IL1RL1/ST2 and its stimulation recruits MYD88, IRAK1, IRAK4, and TRAF6, followed by phosphorylation of MAPK3/ERK1 and/or MAPK1/ERK2, MAPK14, and MAPK8 . It also serves as a warning signal between cells at times of injury or cell death .
Small ribosomal subunit protein uS3m, metazoan (Ribosomal_uS3m)
Type: Family

This entry represents Small ribosomal subunit protein uS3m, also known as mitochondrial ribosomal subunit S24, from animals .
Rab3GAP catalytic subunit, conserved domain (Rab3GAP1_conserved)
Type: Domain

This entry represents a conserved domain found in the Rab3 GTPase-activating protein catalytic subunit (Rab3GAP1).

Small G proteins of the Rab family are regulators of intracellular vesicle traffic. Their rate of GTP hydrolysis is enhanced by specific GTPase-activating proteins (GAPs) that switch G proteins to their inactive form . Rab3GAP1 (catalytic subunit) has been shown to form a heterodimeric complex with Rab3GAP2 (the regulatory subunit), and this complex acts as a guanosine nucleotide exchange factor for Rab3 subfamily (RAB3A, RAB3B, RAB3C and RAB3D). Rab3GAP complex may participate in neurodevelopmental processes such as proliferation, migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters . It also activates Rab18 and promotes autolysosome maturation through the Vps34 Complex I .

Mutations in the Rab3GAP1/2 gene cause Warburg micro syndrome (WMS), a hereditary autosomal neuromuscular disorder .
Maspardin (Maspardin)
Type: Family

The maspardin protein (Mast syndrome, spastic paraplegia, autosomal recessive with dementia) is a member of the AB hydrolase superfamily that has been shown to localise to intracellular endosomal/trans-Golgi transportation vesicles and may function in protein transport and sorting . The protein has also been shown to interact with CD4, and may play a role as a negative regulatory factor in CD4-dependent T-cell activation . Although sequence alignments show maspardin to be a member of the AB hydrolase superfamily, they also show it to lack the nucleophile-acid-histidine triad required for catalytic function, suggesting that maspardin is unlikely to function as an enzyme . Defects in the maspardin gene are the cause of spastic paraplegia autosomal recessive type 21 (SPG21), also known as Mast syndrome. Mast syndrome is a neurodegenerative disorder characterised by a slow, gradual, progressive weakness and spasticity of the lower limbs .
Specifically androgen-regulated gene protein (SARG)
Type: Family

Human SARG is a putative androgen-specific receptor .
Treslin (Treslin)
Type: Family

Treslin, a TopBP1-interacting protein, is necessary for DNA replication in vertebrates . Treslin is the metazoan counterpart of Sld3. They differ in their molecular sizes and amino acid sequences, however, they share a Sld3-Treslin domain (STD), essential for replication origin firing . Prior to the initiation of DNA replication, treslin associates with TopBP1 in a Cdk2-dependent manner . The proteins then collaborate in the Cdk2-mediated loading of Cdc45 onto replication origins . Treslin is also an important checkpoint regulator, and is required to prevent mitotic entry after treatment with ionizing radiation .
Apelin (Apelin)
Type: Family

Apelin is a bioactive peptide with a wide variety of physiological actions, which are mediated by its interaction with its specific G protein-coupled receptor, APJ . The protein is cleaved into several different active forms, including apelin-36, apelin-17 and apelin-13. Apelin has been shown to be involved in the regulation of cardiovascular and fluid homeostasis, food intake, cell proliferation, and angiogenesis . It has also been shown to inhibit human immunodeficiency virus type 1 entry into cells coexpressing CD4 and APJ .
Folliculin-interacting protein family (FNIP_fam)
Type: Family

Birt-Hogg-Dube' syndrome, a disorder characterised by benign tumours of the hair follicle, lung cysts and renal neoplasia, is caused by germline mutations in the BHD(FLCN) gene; this encodes a tumour suppressor protein, folliculin (FLCN), of unknown function . The folliculin- interacting protein, FNIP1, has also been identified and shown to interact with 5' AMP-activated protein kinase (AMPK), which plays a vital role in energy sensing . Together, then, it is thought that folliculin (mutated in Birt-Hogg-Dube' syndrome) and its interaction partner, FNIP1, may be involved in energy and/or nutrient sensing via the AMPK and mTOR signalling pathways.

FNIP1 has a homologue, FNIP2, which also interacts with FLCN and AMPK. C-terminally-deleted FLCN mutants, like those produced by germline mutations in BHD patients, do not bind FNIP2, suggesting that FLCN tumour-suppressor function may be facilitated by interactions with both FNIP1 and FNIP2 via its C terminus . FNIP1 and FNIP2 are able to form homo- or heteromeric multimers, and may hence function either independently or cooperatively with FLCN .

This entry represents the FNIP family, including FNIP1 and FNIP2.
Leucine zipper transcription factor-like protein 1 (LZTFL1)
Type: Family

The functions of this family are unclear. Human LZTFL1 is ubiquitously expressed .
Apolipoprotein B receptor (ApolipoprotB_rcpt)
Type: Family

Apolipoprotein B receptor (also known as apolipoprotein B-100 receptor) is a macrophage receptor that binds to apolipoprotein (apo) B48 of dietary triglyceride (TG)-rich lipoproteins, or to an apoB100-like domain in hypertriglyceridemic very low-density lipoproteins . The receptor has been shown to be capable of binding and internalising triglyceride-rich lipoproteins, even in the absence of other macrophage-specific proteins, such as apoE or lipoprotein lipase, that can enhance macrophage uptake of lipoproteins . Apolipoprotein B receptor may be involved in provision of essential lipids to reticuloendothelial cells. It also has a role in remnant lipoprotein-induced macrophage foam cell formation, and thus may be involved in atherosclerosis .
Cerebral cavernous malformations 2 (Malcavernin)
Type: Family

Cerebral cavernous malformations 2 (CCM2, also known Malcavernin) is a component of the cerebral cavernous malformations (CCM) signalling pathway. The CCM pathway is a crucial regulator of heart and vessel formation and integrity, and aberrations in the pathway cause CCM pathogenesis, resulting in congenital vascular anomalies of the central nervous system .

CCM2 may also function as a scaffold protein for MAP2K3-MAP3K3 signalling. It seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock .
Resistance to inhibitors of cholinesterase protein 3 (Ric3)
Type: Family

Human Ric3 promotes functional expression of homomeric alpha-7 and alpha-8 nicotinic acetylcholine receptors at the cell surface. It may also promote functional expression of homomeric serotoninergic 5-HT3 receptors, and of heteromeric acetylcholine receptors alpha-3/beta-2, alpha-3/beta-4, alpha-4/beta-2 and alpha-4/beta-4 .
FAM178 family (FAM178)
Type: Family

This entry represents the FAM178 family, whose members are metazoan proteins and include FAM178A and FAM178B. The human FAM178A protein has been shown to be widely expressed and is phosphorylated upon DNA damage, probably by ATM (ataxia telangiectasia mutated) or ATR (ATM and Rad3-related) .

FAM178A, also known as SLF2 (SMC5-SMC6 complex localization factor 2), forms a complex with RAD18 and SLF1, and together they define a pathway that suppresses genome instability by recruiting the SMC5/6 cohesion complex to DNA lesions .
Myb/SANT-like DNA-binding domain-containing protein 4 (MSANTD4)
Type: Family

The functions of this family are still unclear.
Nck-associated protein 5-like (Nckap5l)
Type: Family

Human NCKAP5 interacts with the SH3-containing region of the adapter protein Nck. It's functions are still unclear .
Integrator complex subunit 10 (Int_cplx_su10)
Type: Family

Integrator complex subunit 10 is a component of the multiprotein complex Integrator, which is
responsible for the endonucleolytic cleavage of small nuclear RNA (snRNA) transcripts within the nucleus .

The Integrator is an RNA polymerase II complex which contains at least 12 novel subunits and core RNAPII subunits. Two of the Integrator subunits share similarity with subunits of the cleavage and polyadenylation specificity factor (CPSF) complex. Integrator has been shown to be recruited to the U1 and U2 snRNA genes, and to mediate the snRNAs' 3' end processing. The Integrator complex is evolutionarily conserved in metazoans, and directly interacts with the C-terminal domain of the RNA polymerase II largest subunit .
Cytoskeleton-associated protein 2 family (CKAP2_fam)
Type: Family

Mouse CKAP2 has been shown to possess microtubule stabilising properties and is involved in regulating aneuploidy, cell cycle, and cell death in a p53-dependent manner . In human, CKAMP2 is up-regulated in primary gastric cancers . It has been shown that human CKAP2 is degraded by APC/C-Cdh1 during mitotic exit and that a tight regulation of CKAP2 protein level is important for mitotic progression .
Mitochondria-eating protein (MIEAP)
Type: Family

Mitochondria-eating protein (MIEAP, also known as spermatogenesis-associated protein 18), a p53-inducible protein, is a key regulator of mitochondrial quality that mediates the repair or degradation of unhealthy mitochondria in response to mitochondrial damage . It induces intra-mitochondrial lysosome-like organella that eliminate oxidised mitochondrial proteins without destroying the mitochondrial structure, leading to improvement in mitochondrial function . It is also involved in degradation of damaged mitochondria by promoting the formation of vacuole-like structures (named MIV), which engulf and degrade the mitochondria by accumulating lysosomes .
N-lysine methyltransferase FAM173A/B (FAM173A/B)
Type: Family

This entry represents the FAM173 family, including N-lysine methyltransferase FAM173A and FAM173B. FAM173B is a lysine-specific methyltransferase (KMT) responsible for methylation of ATP synthase c-subunit (ATPSc), a key protein in cellular ATP production . FAM173B, therefore, was renamed ATPSCKMT. It has been shown to promote chronic pain and is involved in persistent inflammatory and neuropathic pain via a pathway dependent on its methyltransferase activity .
Fanconi anemia group I protein (FANCI)
Type: Family

Fanconi anemia complementation group I (FANCI) protein is a component of the Fanconi anemia DNA damage-response pathway . The protein directly binds to a variety of DNA substrates and plays an essential role in the repair of DNA double-strand breaks by homologous recombination. It is also involved in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL .

Defects in the FANCI gene are a cause of Fanconi anemia complementation group I - a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Gamma-secretase-activating protein family (GSAP_fam)
Type: Family

This entry represents the gamma-secretase-activating protein (GSAP) family, whose members include the mammalian GSAPs and the insect pigeon proteins (also known as linotte proteins). GSAP is a gamma-secretase regulator. It specifically activates the production of beta-amyloid protein through interactions with both gamma-secretase and its substrate, the amyloid precursor protein carboxy-terminal fragment (APP-CTF) . This has led to interest in the protein as potential therapeutic target for the treatment of Alzheimer's disease . Pigeon/linotte was initially identified as a gene that functions in adult Drosophila during associative learning .
Sperm-associated antigen 17 (SPAG17)
Type: Family

Sperm-associated antigen 17 (SPAG17) seems to be important for the structural integrity of the central apparatus of the sperm axoneme. It interacts (via the C terminus) with SPAG6; the interaction probably occurs on polymerised microtubules .
Mirror-image polydactyly gene 1 protein (MIPOL1)
Type: Family

Mirror-image polydactyly of hands and feet (MIP) is a very rare congenital anomaly characterised by mirror-image duplication of digits. A chromosomal aberration involving mirror-image polydactyly gene 1 (MIPOL1) suggests this to be a good candidate gene for the MIP type of anomaly . This entry represents the MIPOL1 protein.
Junctional sarcoplasmic reticulum protein 1 (JSRP1)
Type: Family

Junctional sarcoplasmic reticulum protein 1 (JSRP1, also known as JP-45) may regulate voltage-sensitive calcium channel CACNA1S membrane targeting and activity . The protein may also have a role in the development or maintenance of skeletal muscle strength .
SLAIN motif-containing protein (Slain)
Type: Family

This family consists of SLAIN motif-containing proteins, including SLAIN1 and SLAIN2. SLAIN1 was named after the SLAIN amino acid stretch in its C terminus. It is expressed at the stem cell and epiblast stages of ESC differentiation and in the epiblast, nervous system, tailbud and somites of the developing embryo in mice . SLAIN2 has been shown to bind to the plus end of microtubules and to regulate microtubule dynamics and organisation. It promotes cytoplasmic microtubule nucleation and elongation. It is required for normal structure of the microtubule cytoskeleton during interphase .
KAT8 regulatory NSL complex subunit 1 (NSL1)
Type: Family

The nonspecific lethal (NSL) complex associates with the histone acetyltransferase MOF (KAT8) in both Drosophila and mammals . KAT8 regulatory NSL complex subunit 1 (KANSL1 or NSL1) is part of the NSL complex that is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription .
Transmembrane protein 40 (TMEM40)
Type: Family

This entry the transmembrane protein 40 family, members of which are multi-pass membrane proteins whose function is currently unknown.
Anaphase-promoting complex subunit 15 (ANAPC15)
Type: Family

Human ANAPC15 is a component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. In the complex, it plays a role in the release of the mitotic checkpoint complex (MCC) from the APC/C; it is not required for APC/C activity itself, but promotes the turnover of CDC20 and MCC on the APC/C, thereby participating to the responsiveness of the spindle assembly checkpoint. It also required for degradation of CDC20 .
Taxilin family (Taxilin_fam)
Type: Family

The taxilin family of proteins includes alpha-, beta- and gamma-taxilins. They bind to members of the syntaxin protein family , which are implicated in intracellular vesicle traffic. Taxilins might therefore be involved in this process. Alpha-taxilin may also be involved in calcium-dependent exocytosis in neuroendocrine cells , while gamma-taxilin (also known as Elrg) may have a role in cell cycle progression .
Placenta-expressed transcript 1 (PLET1)
Type: Family

Placenta-expressed transcript 1 (PLET1) may participate in the wound response during the healing process, and promote wound repair . In the postgastrulation embryo, PLET1 expression is highly restricted to the developing pharyngeal endoderm and mesonephros. In adult tissues, PLET1 expression is in a number of sites, including mammary and prostate epithelia and in the pancreas .
Epithelial-stromal interaction protein 1 (EPSTI1)
Type: Family

EPSTI1 is highly expressed in breast cancer upon interaction between tumor cells and stromal cells in vitro. It is expressed in blood mononuclear cells from patients with systemic lupus erythematosus (SLE) .
Protein POF1B (POF1B)
Type: Family

Proteins in this family may be involved in ovary development. Defects in POF1B are the cause of premature ovarian failure type 2B (POF2B), an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterised by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol .
Cell death regulator Aven (Aven)
Type: Family

Aven represents a new class of cell death regulator. It inhibits the proteolytic activation of caspases in a cell-free extract and suppresses apoptosis induced by Apaf-1 plus caspase-9 .
Lebercilin-like (Lebercilin-like)
Type: Family

Lebercilin (LCA5) might be involved in minus end-directed microtubule transport . Defects in LCA5 are the cause of Leber congenital amaurosis type 5 (LCA5). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. LCA represents the most common genetic cause of congenital visual impairment in infants and children .

This family consists of Lebercilin and Lebercilin-like proteins.
Cylicin (CYLC)
Type: Family

This family consists of Cylicin-1 and Cylicin-2. The are proteins of the sperm head cytoskeleton . Cylicins might play the architectural role during spermatogenesis. They may be involved in spermatid differentiation .
Hypoxia-inducible lipid droplet-associated protein (Hipoxia_HILPDA)
Type: Family

Hypoxia-inducible lipid droplet-associated protein (HILPDA), also known as hypoxia-inducible protein 2 (HIG2), increases intracellular lipid accumulation. It stimulates expression of cytokines including IL6, MIF and VEGFA. It also enhances cell growth and proliferation . Human HILPDA is highly expressed in renal cell carcinoma cells but barely detectable in adjacent normal kidney tissue. It is detected in some cervical and endometrial cancers .
Ligand-dependent nuclear receptor-interacting factor 1 (LRIF1)
Type: Family

Ligand-dependent nuclear receptor-interacting factor 1 (LRIF1) was initially identified as a protein that interacts with retinoic acid receptors and other nuclear receptors . The protein has been shown to repress the ligand-induced transcriptional activity of retinoic acid receptor alpha. Its repression activity is mediated at least in part through direct recruitment of histone deacetylases .