sujigwak/NVAR huggingface dataset:
UniProt ID: Q6EGI2
Variant: T -> A at position 514-514
Variant annotation: in strain: Isolate LSUMZM-3076
Protein function: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix.
Reference sequence:
MFVNRWLFSTNHKDIGTLYMIFGAWAGMVGTGLSILIRAELGQPGSLLGDDQIYNVVVTAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSFLLLLASSMVEAGAGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGVSSILGAINFITTIINMKPPAITQYQTPLFVWSVMITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQHLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAHHMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGGNIKWSPAMLWALGFIFLFTIGGLTGIVLSNSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFVHWFPLFTGYTLNETWAKIHFTIMFVGVNMTFFPQHFLGLAGMPRRYSDYPDAYTTWNTISSMGSFISLTAVILMIFMIWEALASKRLVKSVPLTSTNLEWIYGCPPPFHTFEEPVFIKST
UniProt ID: Q6EMK4
Variant: E -> A at position 384-384
Variant annotation: in dbSNP:rs3810818
Protein function: May act as an inhibitor of TGF-beta signaling.
Reference sequence:
MCSRVPLLLPLLLLLALGPGVQGCPSGCQCSQPQTVFCTARQGTTVPRDVPPDTVGLYVFENGITMLDAGSFAGLPGLQLLDLSQNQIASLPSGVFQPLANLSNLDLTANRLHEITNETFRGLRRLERLYLGKNRIRHIQPGAFDTLDRLLELKLQDNELRALPPLRLPRLLLLDLSHNSLLALEPGILDTANVEALRLAGLGLQQLDEGLFSRLRNLHDLDVSDNQLERVPPVIRGLRGLTRLRLAGNTRIAQLRPEDLAGLAALQELDVSNLSLQALPGDLSGLFPRLRLLAAARNPFNCVCPLSWFGPWVRESHVTLASPEETRCHFPPKNAGRLLLELDYADFGCPATTTTATVPTTRPVVREPTALSSSLAPTWLSPTEPATEAPSPPSTAPPTVGPVPQPQDCPPSTCLNGGTCHLGTRHHLACLCPEGFTGLYCESQMGQGTRPSPTPVTPRPPRSLTLGIEPVSPTSLRVGLQRYLQGSSVQLRSLRLTYRNLSGPDKRLVTLRLPASLAEYTVTQLRPNATYSVCVMPLGPGRVPEGEEACGEAHTPPAVHSNHAPVTQAREGNLPLLIAPALAAVLLAALAAVGAAYCVRRGRAMAAAAQDKGQVGPGAGPLELEGVKVPLEPGPKATEGGGEALPSGSECEVPLMGFPGPGLQSPLHAKPYI
UniProt ID: Q6EV78
Variant: S -> T at position 52-52
Protein function: Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids.
Reference sequence:
MEMLQGLLLWLLLSMGGARASREPLRPLCRPINATLAAEKEACPVCITVNTSICAGYCPTMMRVLQAALLPLPQVVCTYHEVRFDSIQLPGCLPGVDPVVSFPVALSCRCGPCHRSTSDCGGPKDHPLTCDHPQLPGLLFL
UniProt ID: Q6EV78
Variant: H -> R at position 80-80
Protein function: Promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids.
Reference sequence:
MEMLQGLLLWLLLSMGGARASREPLRPLCRPINATLAAEKEACPVCITVNTSICAGYCPTMMRVLQAALLPLPQVVCTYHEVRFDSIQLPGCLPGVDPVVSFPVALSCRCGPCHRSTSDCGGPKDHPLTCDHPQLPGLLFL
UniProt ID: Q6EZC2
Variant: A -> G at position 263-263
Variant annotation: in strain: O29
Protein function: Protease subunit of subtilase cytotoxin SubAB5 . An endoprotease specific for host endoplasmic reticulum (ER) chaperone BiP/HSPA5, has no activity on human HSP70 or HSPA8 . Cleaves between 'Leu-416' and 'Leu-417' of BiP/HSPA5 in the hinge between BiP's ATPase and protein-binding domains . This induces host ER stress response and eventual cell death . Culture supernatant of E.coli expressing both subA and subB are toxic for Vero cells (African green monkey kidney cell line), Chinese hamster ovary cells and Hct-8 cells (human colonic epithelial cell line); the subunits are not toxic individually . Purified SubAB5 is highly toxic, <0.1 pg is able to kill at least 50% of 30'000 Vero cells in a microtiter plate assay after 3 days; no cytotoxicity is seen at 24 hours . Preabsorption with cells expressing a ganglioside GM2 mimic reduced cytotoxicity of SubAB5 by 93% in the Vero cytotoxicity assay . Intraperitoneal injection of 200 ng of purified SubAB5 kills mice; the higher the dose the faster the mice die. Animals injected intraperitoneally with purified SubAB5 have microvascular thrombi in the brain and other organs, including the renal tubules and glomeruli . Injection induces an unfolded response in mice . Mice fed E.coli cells expressing cloned SubAB5 experience drastic weight loss and appear ill and lethargic . Protein synthesis in Vero cells is transiently inhibited by SubAB5; both subunits are required for this effect . Inhibition of protein synthesis is prevented by brefeldin A; cells are arrested in the G1 phase . SubAB5 at 100 ng/ml induced caspase-dependent apoptosis in Vero cells through mitochondrial membrane damage .
Reference sequence:
MLKILWTYILFLLFISASARAEKPWYFDAIGLTETTMSLTDKNTPVVVSVVDSGVAFIGGLSDSEFAKFSFTQDGSPFPVKKSEALYIHGTAMASLIASRYGIYGVYPHALISSRRVIPDGVQDSWIRAIESIMSNVFLAPGEEKIINISGGQKGVASASVWTELLSRMGRNNDRLIVAAVGNDGADIRKLSAQQRIWPAAYHPVSSVNKKQDPVIRVAALAQYRKGETPVLHGGGITGSRFGNNWVDIAAPGQNITFLRPDAKTGTGSGTSEATAIVSGVLAAMTSCNPRATATELKRTLLESADKYPSLVDKVTEGRVLNAEKAISMFCKKNYIPVRQGRMSEEL
UniProt ID: Q6EZC3
Variant: K -> E at position 102-102
Variant annotation: in strain: O29
Protein function: Receptor-binding subunit of subtilase cytotoxin SubAB5. Required for receptor-binding and thus correct trafficking in the host cell . Has specificity for host glycans terminating in the sialic acid N-glycolyl-alpha-neuraminic acid (Neu5Gc); each subunit in the SubB pentamer binds one Neu5Gc . The protease subunit (SubA) cleaves host BiP/HSPA5, inducing the host endoplasmic reticulum stress response and eventual cell death . Culture supernatant of E.coli expressing both subA and subB are toxic for Vero cells (African green monkey kidney cell line), Chinese hamster ovary cells and Hct-8 cells (human colonic epithelial cell line); the subunits are not toxic individually . Purified SubAB5 is highly toxic, <0.1 pg is able to kill at least 50% of 30'000 Vero cells in a microtiter plate assay after 3 days; no cytotoxicity is seen at 24 hours . Preabsorption with cells expressing a ganglioside GM2 mimic reduced cytotoxicity of SubAB5 by 93% in the Vero cytotoxicity assay . Intraperitoneal injection of 200 ng of purified SubAB5 kills mice; the higher the dose the faster the mice die. Animals injected with purified SubAB5 have microvascular thrombi in the brain and other organs, including the renal tubules and glomeruli. Mice fed E.coli cells expressing cloned SubAB5 experience drastic weight loss and appear ill and lethargic . SubB alone at 2.5 ug/ml causes vacuolation of Vero cells, which requires the V-type ATPase proton pump; treated cells die . Protein synthesis in Vero cells is transiently inhibited by SubAB5; both subunits are required for this effect . Inhibition of protein synthesis is prevented by brefeldin A; cells are arrested in the G1 phase . SubAB5 at 100 ng/ml induced caspase-dependent apoptosis in Vero cells through mitochondrial membrane damage .
Reference sequence:
MTIKRFFVCAGIMGCLSLNPAMAEWTGDARDGMFSGVVITQFHTGQIDNKPYFCIEGKQSAGSSISACSMKNSSVWGASFSTLYNQALYFYTTGQPVRIYYKPGVWTYPPFVKALTSNALVGLSTCTTSTECFGPDRKKNS
UniProt ID: Q6F495
Variant: S -> N at position 80-80
Protein function: Taste-modifying protein; sweet-tasting. After curculin, water elicits a sweet taste, and sour substances induce a stronger sense of sweetness.
Reference sequence:
MAAKFLLTILVTFAAVASLGMADSVLLSGQTLYAGHSLTSGSYTLTIQNNCNLVKYQHGRQIWASDTDGQGSQCRLTLRSDGNLIIYDDNNMVVWGSDCWGNNGTYALVLQQDGLFVIYGPVLWPLGLNGCRSLNGEITVAKDSTEPQHEDIKMVINN
UniProt ID: Q6FYW0
Variant: R -> S at position 39-39
Variant annotation: in strain: ATCCVR-358 / Fuller / CIP 107027
Protein function: Component of the type IV secretion system VirB/VirD4 which could be a major virulence determinant for subversion of human endothelial cell (HEC) function. Altogether with VirB4, may be implicated in providing the energy, via hydrolysis of ATP, for the assembly of secretion system and substrate transport.
Reference sequence:
MNQNLHKLSNETVAIVLTKLEPISAFLKDKSLFEIVINRPYQVMTEGIEGWKTIEAPALSFDELMGIAKVVASYSKQKISDKNPILSATLPGNERIQIVIPPAVEKDTISMTIRKPSSRNFSLEELANKGLFSVCEQVSFTPLNDYQSRFSELKHIEHSLATAYSNKDFVSFLNQAVKCQKNILIAGKTGSGKTTLSKALIAKIPDNERIITIEDTPELVVPQPNYVSMIYSKDGQGLASVGPKELLESALRMRPDRILLQELRDGTAFYYIRNINSGHPGSITTVHASTALAAFEQMTLLVKESEGGGDLERDDIRGLLISMIDIIVQCKRVEGKFKVTEIYYDPFKQRNIFGGN
UniProt ID: Q6FYW0
Variant: T -> P at position 53-53
Variant annotation: in strain: ATCCVR-358 / Fuller / CIP 107027
Protein function: Component of the type IV secretion system VirB/VirD4 which could be a major virulence determinant for subversion of human endothelial cell (HEC) function. Altogether with VirB4, may be implicated in providing the energy, via hydrolysis of ATP, for the assembly of secretion system and substrate transport.
Reference sequence:
MNQNLHKLSNETVAIVLTKLEPISAFLKDKSLFEIVINRPYQVMTEGIEGWKTIEAPALSFDELMGIAKVVASYSKQKISDKNPILSATLPGNERIQIVIPPAVEKDTISMTIRKPSSRNFSLEELANKGLFSVCEQVSFTPLNDYQSRFSELKHIEHSLATAYSNKDFVSFLNQAVKCQKNILIAGKTGSGKTTLSKALIAKIPDNERIITIEDTPELVVPQPNYVSMIYSKDGQGLASVGPKELLESALRMRPDRILLQELRDGTAFYYIRNINSGHPGSITTVHASTALAAFEQMTLLVKESEGGGDLERDDIRGLLISMIDIIVQCKRVEGKFKVTEIYYDPFKQRNIFGGN
UniProt ID: Q6FYW0
Variant: T -> P at position 195-195
Variant annotation: in strain: ATCCVR-358 / Fuller / CIP 107027
Protein function: Component of the type IV secretion system VirB/VirD4 which could be a major virulence determinant for subversion of human endothelial cell (HEC) function. Altogether with VirB4, may be implicated in providing the energy, via hydrolysis of ATP, for the assembly of secretion system and substrate transport.
Reference sequence:
MNQNLHKLSNETVAIVLTKLEPISAFLKDKSLFEIVINRPYQVMTEGIEGWKTIEAPALSFDELMGIAKVVASYSKQKISDKNPILSATLPGNERIQIVIPPAVEKDTISMTIRKPSSRNFSLEELANKGLFSVCEQVSFTPLNDYQSRFSELKHIEHSLATAYSNKDFVSFLNQAVKCQKNILIAGKTGSGKTTLSKALIAKIPDNERIITIEDTPELVVPQPNYVSMIYSKDGQGLASVGPKELLESALRMRPDRILLQELRDGTAFYYIRNINSGHPGSITTVHASTALAAFEQMTLLVKESEGGGDLERDDIRGLLISMIDIIVQCKRVEGKFKVTEIYYDPFKQRNIFGGN
UniProt ID: Q6FYW0
Variant: NIFGGN -> HLEDLP at position 351-356
Variant annotation: in strain: ATCCVR-358 / Fuller /CIP 107027
Protein function: Component of the type IV secretion system VirB/VirD4 which could be a major virulence determinant for subversion of human endothelial cell (HEC) function. Altogether with VirB4, may be implicated in providing the energy, via hydrolysis of ATP, for the assembly of secretion system and substrate transport.
Reference sequence:
MNQNLHKLSNETVAIVLTKLEPISAFLKDKSLFEIVINRPYQVMTEGIEGWKTIEAPALSFDELMGIAKVVASYSKQKISDKNPILSATLPGNERIQIVIPPAVEKDTISMTIRKPSSRNFSLEELANKGLFSVCEQVSFTPLNDYQSRFSELKHIEHSLATAYSNKDFVSFLNQAVKCQKNILIAGKTGSGKTTLSKALIAKIPDNERIITIEDTPELVVPQPNYVSMIYSKDGQGLASVGPKELLESALRMRPDRILLQELRDGTAFYYIRNINSGHPGSITTVHASTALAAFEQMTLLVKESEGGGDLERDDIRGLLISMIDIIVQCKRVEGKFKVTEIYYDPFKQRNIFGGN
UniProt ID: Q6FYW2
Variant: QVREGDVSAGNDT -> KFVKATFHRRY at position 121-133
Variant annotation: in strain: ATCCVR-358 / Fuller / CIP 107027
Protein function: Component of the type IV secretion system VirB/VirD4 which could be a major virulence determinant for subversion of human endothelial cell (HEC) function.
Reference sequence:
MMRFSKIIFLAFLFAISCLTVPLFAETAPVSARKDNRIRFVNYDPYNVTQIIGSIRSSVQLEFADDEEVTYVGIGNSVAWQVAPAGHFVFLKPREVQPVTNLQIVTSRQDGTKRSYQFELQVREGDVSAGNDTYFLVKFRYPEDEALRKKLAKAAEAAQREENFVNDVFNIHENFGPRNWAYEAQGSSLIEPASVYDNGKTTTFTFLGNTEIPAIYLVSLDGQESLVPKSIKGNKVIVHAIAAQFTLRRGNDVLCIFNKRFVPEGINPETGTTSPSVQRRVNIGNGHEG
UniProt ID: Q6FYW2
Variant: KFRYPEDEALRK -> SFVIQKNFAQ at position 138-149
Variant annotation: in strain: ATCCVR-358 /Fuller / CIP 107027
Protein function: Component of the type IV secretion system VirB/VirD4 which could be a major virulence determinant for subversion of human endothelial cell (HEC) function.
Reference sequence:
MMRFSKIIFLAFLFAISCLTVPLFAETAPVSARKDNRIRFVNYDPYNVTQIIGSIRSSVQLEFADDEEVTYVGIGNSVAWQVAPAGHFVFLKPREVQPVTNLQIVTSRQDGTKRSYQFELQVREGDVSAGNDTYFLVKFRYPEDEALRKKLAKAAEAAQREENFVNDVFNIHENFGPRNWAYEAQGSSLIEPASVYDNGKTTTFTFLGNTEIPAIYLVSLDGQESLVPKSIKGNKVIVHAIAAQFTLRRGNDVLCIFNKRFVPEGINPETGTTSPSVQRRVNIGNGHEG
UniProt ID: Q6GTX8
Variant: D -> E at position 63-63
Variant annotation: in dbSNP:rs3745442
Protein function: Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T-cells, down-regulating IL2 and IFNG production while inducing secretion of transforming growth factor beta. Down-regulates also IgG and IgE production in B-cells as well as IL8, IL10 and TNF secretion. Inhibits proliferation and induces apoptosis in myeloid leukemia cell lines as well as prevents nuclear translocation of NF-kappa-B p65 subunit/RELA and phosphorylation of I-kappa-B alpha/CHUK in these cells. Inhibits the differentiation of peripheral blood precursors towards dendritic cells.
Reference sequence:
MSPHPTALLGLVLCLAQTIHTQEEDLPRPSISAEPGTVIPLGSHVTFVCRGPVGVQTFRLERDSRSTYNDTEDVSQASPSESEARFRIDSVREGNAGLYRCIYYKPPKWSEQSDYLELLVKESSGGPDSPDTEPGSSAGPTQRPSDNSHNEHAPASQGLKAEHLYILIGVSVVFLFCLLLLVLFCLHRQNQIKQGPPRSKDEEQKPQQRPDLAVDVLERTADKATVNGLPEKDRETDTSALAAGSSQEVTYAQLDHWALTQRTARAVSPQSTKPMAESITYAAVARH
UniProt ID: Q6GTX8
Variant: R -> S at position 92-92
Variant annotation: in dbSNP:rs118056835
Protein function: Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T-cells, down-regulating IL2 and IFNG production while inducing secretion of transforming growth factor beta. Down-regulates also IgG and IgE production in B-cells as well as IL8, IL10 and TNF secretion. Inhibits proliferation and induces apoptosis in myeloid leukemia cell lines as well as prevents nuclear translocation of NF-kappa-B p65 subunit/RELA and phosphorylation of I-kappa-B alpha/CHUK in these cells. Inhibits the differentiation of peripheral blood precursors towards dendritic cells.
Reference sequence:
MSPHPTALLGLVLCLAQTIHTQEEDLPRPSISAEPGTVIPLGSHVTFVCRGPVGVQTFRLERDSRSTYNDTEDVSQASPSESEARFRIDSVREGNAGLYRCIYYKPPKWSEQSDYLELLVKESSGGPDSPDTEPGSSAGPTQRPSDNSHNEHAPASQGLKAEHLYILIGVSVVFLFCLLLLVLFCLHRQNQIKQGPPRSKDEEQKPQQRPDLAVDVLERTADKATVNGLPEKDRETDTSALAAGSSQEVTYAQLDHWALTQRTARAVSPQSTKPMAESITYAAVARH
UniProt ID: Q6GTX8
Variant: L -> P at position 98-98
Variant annotation: in dbSNP:rs79046875
Protein function: Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T-cells, down-regulating IL2 and IFNG production while inducing secretion of transforming growth factor beta. Down-regulates also IgG and IgE production in B-cells as well as IL8, IL10 and TNF secretion. Inhibits proliferation and induces apoptosis in myeloid leukemia cell lines as well as prevents nuclear translocation of NF-kappa-B p65 subunit/RELA and phosphorylation of I-kappa-B alpha/CHUK in these cells. Inhibits the differentiation of peripheral blood precursors towards dendritic cells.
Reference sequence:
MSPHPTALLGLVLCLAQTIHTQEEDLPRPSISAEPGTVIPLGSHVTFVCRGPVGVQTFRLERDSRSTYNDTEDVSQASPSESEARFRIDSVREGNAGLYRCIYYKPPKWSEQSDYLELLVKESSGGPDSPDTEPGSSAGPTQRPSDNSHNEHAPASQGLKAEHLYILIGVSVVFLFCLLLLVLFCLHRQNQIKQGPPRSKDEEQKPQQRPDLAVDVLERTADKATVNGLPEKDRETDTSALAAGSSQEVTYAQLDHWALTQRTARAVSPQSTKPMAESITYAAVARH
UniProt ID: Q6GTX8
Variant: S -> T at position 123-123
Variant annotation: in dbSNP:rs190462445
Protein function: Functions as an inhibitory receptor that plays a constitutive negative regulatory role on cytolytic function of natural killer (NK) cells, B-cells and T-cells. Activation by Tyr phosphorylation results in recruitment and activation of the phosphatases PTPN6 and PTPN11. It also reduces the increase of intracellular calcium evoked by B-cell receptor ligation. May also play its inhibitory role independently of SH2-containing phosphatases. Modulates cytokine production in CD4+ T-cells, down-regulating IL2 and IFNG production while inducing secretion of transforming growth factor beta. Down-regulates also IgG and IgE production in B-cells as well as IL8, IL10 and TNF secretion. Inhibits proliferation and induces apoptosis in myeloid leukemia cell lines as well as prevents nuclear translocation of NF-kappa-B p65 subunit/RELA and phosphorylation of I-kappa-B alpha/CHUK in these cells. Inhibits the differentiation of peripheral blood precursors towards dendritic cells.
Reference sequence:
MSPHPTALLGLVLCLAQTIHTQEEDLPRPSISAEPGTVIPLGSHVTFVCRGPVGVQTFRLERDSRSTYNDTEDVSQASPSESEARFRIDSVREGNAGLYRCIYYKPPKWSEQSDYLELLVKESSGGPDSPDTEPGSSAGPTQRPSDNSHNEHAPASQGLKAEHLYILIGVSVVFLFCLLLLVLFCLHRQNQIKQGPPRSKDEEQKPQQRPDLAVDVLERTADKATVNGLPEKDRETDTSALAAGSSQEVTYAQLDHWALTQRTARAVSPQSTKPMAESITYAAVARH
UniProt ID: Q6GXJ1
Variant: H -> Y at position 45-45
Variant annotation: in strain: Guangxi Huang
Protein function: Has bactericidal activity. Potent activity against S.typhimurium and S.entiriditis.
Reference sequence:
MKILCFFIVLLFVAVHGAVGFSRSPRYHMQCGYRGTFCTPGKCPHGNAYLGLCRPKYSCCRWL
UniProt ID: Q6GYQ0
Variant: T -> A at position 931-931
Variant annotation: in dbSNP:rs2274068
Protein function: Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.
Reference sequence:
MFSKKPHGDVKKSTQKVLDTKKDALTRLKHLRIVIENAESIDLKQFFDQHFSHIYYVFFENFVTIEASLKQKGHKSQREELDAILFIFEKILQLLPERIHQRWQFHSIGLILKKLLHTGNSLKIRREGVRLFLLWLQALQNNCSKEQLWMFSCLIPGFSAPQSEHGPRTLDNLINPPLNLQETQVTIEEITPLVPPQSGDKGQEDLTSYFLEALLKYIVIQVKSLEWKNKENQERGFSFLFSHFKKYYLPYIFPNICKENSLYHPILDIPQMRPKPHYVVIKKDAETNEAIYCTKEPFIKARVIVIRWLVSFWLEPKPHTGPHIPGMEGEVLPKNIQRAAASLVSREESKNDNADKTDRTTEPEQSHSNTSTLTEREPSSSSLCSIDEEHLTDIEIVRRVFSSKRSNVNFVTEIFRQAFLLPICEAAAMRKVVKVYQEWIQQEEKPLFMQEPEEIVITSSDLPCIENVTDHDISMEEGEKREEENGTNTADHVRNSSWAKNGSYQGALHNASEEATEQNIRAGTQAVLQVFIINSSNIFLLEPANEIKNLLDEHTDMCKRILNIYRYMVVQVSMDKKTWEQMLLVLLRVTESVLKMPSQAFLQFQGKKNMTLAGRLAGPLFQTLIVAWIKANLNVYISRELWDDLLSVLSSLTYWEELATEWSLTMETLTKVLARNLYSLDLSDLPLDKLSEQKQKKHKGKGVGHEFQKVSVDKSFSRGWSRDQPGQAPMRQRSATTTGSPGTEKARSIVRQKTVDIDDAQILPRSTRVRHFSQSEETGNEVFGALNEEQPLPRSSSTSDILEPFTVERAKVNKEDMSQKLPPLNSDIGGSSANVPDLMDEFIAERLRSGNASTMTRRGSSPGSLEIPKDLPDILNKQNQMRPIDDPGVPSEWTSPASAGSSDLISSDSHSDSFSAFQYDGRKFDNFGFGTDTGVTSSADVDSGSGHHQSAEEQEVASLTTLHIDSETSSLNQQAFSAEVATITGSESASPVHSPLGSRSQTPSPSTLNIDHMEQKDLQLDEKLHHSVLQTPDDLEISEFPSECCSVMAGGTLTGWHADVATVMWRRMLGILGDVNSIMDPEIHAQVFDYLCELWQNLAKIRDNLGISTDNLTSPSPPVLIPPLRILTPWLFKATMLTDKYKQGKLHAYKLICNTMKRRQDVSPNRDFLTHFYNIMHCGLLHIDQDIVNTIIKHCSPQFFSLGLPGATMLIMDFIVAAGRVASSAFLNAPRVEAQVLLGSLVCFPNLYCELPSLHPNIPDVAVSQFTDVKELIIKTVLSSARDEPSGPARCVALCSLGIWICEELVHESHHPQIKEALNVICVSLKFTNKTVAHVACNMLHMLVHYVPRLQIYQPDSPLKIIQILIATITHLLPSTEASSYEMDKRLVVSLLLCLLDWIMALPLKTLLQPFHATGAESDKTEKSVLNCIYKVLHGCVYGAQCFSNPRYFPMSLSDLASVDYDPFMHLESLKEPEPLHSPDSERSSKLQPVTEVKTQMQHGLISIAARTVITHLVNHLGHYPMSGGPAMLTSQVCENHDNHYSESTELSPELFESPNIQFFVLNNTTLVSCIQIRSEENMPGGGLSAGLASANSNVRIIVRDLSGKYSWDSAILYGPPPVSGLSEPTSFMLSLSHQEKPEEPPTSNECLEDITVKDGLSLQFKRFRETVPTWDTIRDEEDVLDELLQYLGVTSPECLQRTGISLNIPAPQPVCISEKQENDVINAILKQHTEEKEFVEKHFNDLNMKAVEQDEPIPQKPQSAFYYCRLLLSILGMNSWDKRRSFHLLKKNEKLLRELRNLDSRQCRETHKIAVFYVAEGQEDKHSILTNTGGSQAYEDFVAGLGWEVNLTNHCGFMGGLQKNKSTGLTTPYFATSTVEVIFHVSTRMPSDSDDSLTKKLRHLGNDEVHIVWSEHTRDYRRGIIPTEFGDVLIVIYPMKNHMFSIQIMKKPEVPFFGPLFDGAIVNGKVLPIMVRATAINASRALKSLIPLYQNFYEERARYLQTIVQHHLEPTTFEDFAAQVFSPAPYHHLPSDADH
UniProt ID: Q6GYQ0
Variant: N -> S at position 1076-1076
Variant annotation: in NEDHRIT; undetectable protein expression; dbSNP:rs1595085511
Protein function: Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.
Reference sequence:
MFSKKPHGDVKKSTQKVLDTKKDALTRLKHLRIVIENAESIDLKQFFDQHFSHIYYVFFENFVTIEASLKQKGHKSQREELDAILFIFEKILQLLPERIHQRWQFHSIGLILKKLLHTGNSLKIRREGVRLFLLWLQALQNNCSKEQLWMFSCLIPGFSAPQSEHGPRTLDNLINPPLNLQETQVTIEEITPLVPPQSGDKGQEDLTSYFLEALLKYIVIQVKSLEWKNKENQERGFSFLFSHFKKYYLPYIFPNICKENSLYHPILDIPQMRPKPHYVVIKKDAETNEAIYCTKEPFIKARVIVIRWLVSFWLEPKPHTGPHIPGMEGEVLPKNIQRAAASLVSREESKNDNADKTDRTTEPEQSHSNTSTLTEREPSSSSLCSIDEEHLTDIEIVRRVFSSKRSNVNFVTEIFRQAFLLPICEAAAMRKVVKVYQEWIQQEEKPLFMQEPEEIVITSSDLPCIENVTDHDISMEEGEKREEENGTNTADHVRNSSWAKNGSYQGALHNASEEATEQNIRAGTQAVLQVFIINSSNIFLLEPANEIKNLLDEHTDMCKRILNIYRYMVVQVSMDKKTWEQMLLVLLRVTESVLKMPSQAFLQFQGKKNMTLAGRLAGPLFQTLIVAWIKANLNVYISRELWDDLLSVLSSLTYWEELATEWSLTMETLTKVLARNLYSLDLSDLPLDKLSEQKQKKHKGKGVGHEFQKVSVDKSFSRGWSRDQPGQAPMRQRSATTTGSPGTEKARSIVRQKTVDIDDAQILPRSTRVRHFSQSEETGNEVFGALNEEQPLPRSSSTSDILEPFTVERAKVNKEDMSQKLPPLNSDIGGSSANVPDLMDEFIAERLRSGNASTMTRRGSSPGSLEIPKDLPDILNKQNQMRPIDDPGVPSEWTSPASAGSSDLISSDSHSDSFSAFQYDGRKFDNFGFGTDTGVTSSADVDSGSGHHQSAEEQEVASLTTLHIDSETSSLNQQAFSAEVATITGSESASPVHSPLGSRSQTPSPSTLNIDHMEQKDLQLDEKLHHSVLQTPDDLEISEFPSECCSVMAGGTLTGWHADVATVMWRRMLGILGDVNSIMDPEIHAQVFDYLCELWQNLAKIRDNLGISTDNLTSPSPPVLIPPLRILTPWLFKATMLTDKYKQGKLHAYKLICNTMKRRQDVSPNRDFLTHFYNIMHCGLLHIDQDIVNTIIKHCSPQFFSLGLPGATMLIMDFIVAAGRVASSAFLNAPRVEAQVLLGSLVCFPNLYCELPSLHPNIPDVAVSQFTDVKELIIKTVLSSARDEPSGPARCVALCSLGIWICEELVHESHHPQIKEALNVICVSLKFTNKTVAHVACNMLHMLVHYVPRLQIYQPDSPLKIIQILIATITHLLPSTEASSYEMDKRLVVSLLLCLLDWIMALPLKTLLQPFHATGAESDKTEKSVLNCIYKVLHGCVYGAQCFSNPRYFPMSLSDLASVDYDPFMHLESLKEPEPLHSPDSERSSKLQPVTEVKTQMQHGLISIAARTVITHLVNHLGHYPMSGGPAMLTSQVCENHDNHYSESTELSPELFESPNIQFFVLNNTTLVSCIQIRSEENMPGGGLSAGLASANSNVRIIVRDLSGKYSWDSAILYGPPPVSGLSEPTSFMLSLSHQEKPEEPPTSNECLEDITVKDGLSLQFKRFRETVPTWDTIRDEEDVLDELLQYLGVTSPECLQRTGISLNIPAPQPVCISEKQENDVINAILKQHTEEKEFVEKHFNDLNMKAVEQDEPIPQKPQSAFYYCRLLLSILGMNSWDKRRSFHLLKKNEKLLRELRNLDSRQCRETHKIAVFYVAEGQEDKHSILTNTGGSQAYEDFVAGLGWEVNLTNHCGFMGGLQKNKSTGLTTPYFATSTVEVIFHVSTRMPSDSDDSLTKKLRHLGNDEVHIVWSEHTRDYRRGIIPTEFGDVLIVIYPMKNHMFSIQIMKKPEVPFFGPLFDGAIVNGKVLPIMVRATAINASRALKSLIPLYQNFYEERARYLQTIVQHHLEPTTFEDFAAQVFSPAPYHHLPSDADH
UniProt ID: Q6HA08
Variant: R -> H at position 204-204
Variant annotation: in dbSNP:rs41320144
Protein function: Oocyte-specific oolemmal receptor involved in sperm and egg adhesion and fertilization. Plays a role in the polyspermy inhibition. Probably acts as a protease for the post-fertilization cleavage of ZP2. Cleaves the sperm-binding ZP2 at the surface of the zona pellucida after fertilization and cortical granule exocytosis, rendering the zona pellucida unable to support further sperm binding.
Reference sequence:
MEGVGGLWPWVLGLLSLPGVILGAPLASSCAGACGTSFPDGLTPEGTQASGDKDIPAINQGLILEETPESSFLIEGDIIRPSPFRLLSATSNKWPMGGSGVVEVPFLLSSKYDEPSRQVILEALAEFERSTCIRFVTYQDQRDFISIIPMYGCFSSVGRSGGMQVVSLAPTCLQKGRGIVLHELMHVLGFWHEHTRADRDRYIRVNWNEILPGFEINFIKSQSSNMLTPYDYSSVMHYGRLAFSRRGLPTITPLWAPSVHIGQRWNLSASDITRVLKLYGCSPSGPRPRGRGSHAHSTGRSPAPASLSLQRLLEALSAESRSPDPSGSSAGGQPVPAGPGESPHGWESPALKKLSAEASARQPQTLASSPRSRPGAGAPGVAQEQSWLAGVSTKPTVPSSEAGIQPVPVQGSPALPGGCVPRNHFKGMSED