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9F16

Structure of a homomeric LRRC8C point mutation disease mutant

Functional Information from GO Data
ChainGOidnamespacecontents
A0005225molecular_functionvolume-sensitive anion channel activity
A0005515molecular_functionprotein binding
A0005737cellular_componentcytoplasm
A0005783cellular_componentendoplasmic reticulum
A0005789cellular_componentendoplasmic reticulum membrane
A0005886cellular_componentplasma membrane
A0006811biological_processmonoatomic ion transport
A0015734biological_processtaurine transmembrane transport
A0015810biological_processaspartate transmembrane transport
A0016020cellular_componentmembrane
A0034214biological_processprotein hexamerization
A0034220biological_processmonoatomic ion transmembrane transport
A0034702cellular_componentmonoatomic ion channel complex
A0045444biological_processfat cell differentiation
A0071470biological_processcellular response to osmotic stress
A0098656biological_processmonoatomic anion transmembrane transport
A0140361biological_processcyclic-GMP-AMP transmembrane import across plasma membrane
B0005225molecular_functionvolume-sensitive anion channel activity
B0005515molecular_functionprotein binding
B0005737cellular_componentcytoplasm
B0005783cellular_componentendoplasmic reticulum
B0005789cellular_componentendoplasmic reticulum membrane
B0005886cellular_componentplasma membrane
B0006811biological_processmonoatomic ion transport
B0015734biological_processtaurine transmembrane transport
B0015810biological_processaspartate transmembrane transport
B0016020cellular_componentmembrane
B0034214biological_processprotein hexamerization
B0034220biological_processmonoatomic ion transmembrane transport
B0034702cellular_componentmonoatomic ion channel complex
B0045444biological_processfat cell differentiation
B0071470biological_processcellular response to osmotic stress
B0098656biological_processmonoatomic anion transmembrane transport
B0140361biological_processcyclic-GMP-AMP transmembrane import across plasma membrane
C0005225molecular_functionvolume-sensitive anion channel activity
C0005515molecular_functionprotein binding
C0005737cellular_componentcytoplasm
C0005783cellular_componentendoplasmic reticulum
C0005789cellular_componentendoplasmic reticulum membrane
C0005886cellular_componentplasma membrane
C0006811biological_processmonoatomic ion transport
C0015734biological_processtaurine transmembrane transport
C0015810biological_processaspartate transmembrane transport
C0016020cellular_componentmembrane
C0034214biological_processprotein hexamerization
C0034220biological_processmonoatomic ion transmembrane transport
C0034702cellular_componentmonoatomic ion channel complex
C0045444biological_processfat cell differentiation
C0071470biological_processcellular response to osmotic stress
C0098656biological_processmonoatomic anion transmembrane transport
C0140361biological_processcyclic-GMP-AMP transmembrane import across plasma membrane
D0005225molecular_functionvolume-sensitive anion channel activity
D0005515molecular_functionprotein binding
D0005737cellular_componentcytoplasm
D0005783cellular_componentendoplasmic reticulum
D0005789cellular_componentendoplasmic reticulum membrane
D0005886cellular_componentplasma membrane
D0006811biological_processmonoatomic ion transport
D0015734biological_processtaurine transmembrane transport
D0015810biological_processaspartate transmembrane transport
D0016020cellular_componentmembrane
D0034214biological_processprotein hexamerization
D0034220biological_processmonoatomic ion transmembrane transport
D0034702cellular_componentmonoatomic ion channel complex
D0045444biological_processfat cell differentiation
D0071470biological_processcellular response to osmotic stress
D0098656biological_processmonoatomic anion transmembrane transport
D0140361biological_processcyclic-GMP-AMP transmembrane import across plasma membrane
E0005225molecular_functionvolume-sensitive anion channel activity
E0005515molecular_functionprotein binding
E0005737cellular_componentcytoplasm
E0005783cellular_componentendoplasmic reticulum
E0005789cellular_componentendoplasmic reticulum membrane
E0005886cellular_componentplasma membrane
E0006811biological_processmonoatomic ion transport
E0015734biological_processtaurine transmembrane transport
E0015810biological_processaspartate transmembrane transport
E0016020cellular_componentmembrane
E0034214biological_processprotein hexamerization
E0034220biological_processmonoatomic ion transmembrane transport
E0034702cellular_componentmonoatomic ion channel complex
E0045444biological_processfat cell differentiation
E0071470biological_processcellular response to osmotic stress
E0098656biological_processmonoatomic anion transmembrane transport
E0140361biological_processcyclic-GMP-AMP transmembrane import across plasma membrane
F0005225molecular_functionvolume-sensitive anion channel activity
F0005515molecular_functionprotein binding
F0005737cellular_componentcytoplasm
F0005783cellular_componentendoplasmic reticulum
F0005789cellular_componentendoplasmic reticulum membrane
F0005886cellular_componentplasma membrane
F0006811biological_processmonoatomic ion transport
F0015734biological_processtaurine transmembrane transport
F0015810biological_processaspartate transmembrane transport
F0016020cellular_componentmembrane
F0034214biological_processprotein hexamerization
F0034220biological_processmonoatomic ion transmembrane transport
F0034702cellular_componentmonoatomic ion channel complex
F0045444biological_processfat cell differentiation
F0071470biological_processcellular response to osmotic stress
F0098656biological_processmonoatomic anion transmembrane transport
F0140361biological_processcyclic-GMP-AMP transmembrane import across plasma membrane
G0005225molecular_functionvolume-sensitive anion channel activity
G0005515molecular_functionprotein binding
G0005737cellular_componentcytoplasm
G0005783cellular_componentendoplasmic reticulum
G0005789cellular_componentendoplasmic reticulum membrane
G0005886cellular_componentplasma membrane
G0006811biological_processmonoatomic ion transport
G0015734biological_processtaurine transmembrane transport
G0015810biological_processaspartate transmembrane transport
G0016020cellular_componentmembrane
G0034214biological_processprotein hexamerization
G0034220biological_processmonoatomic ion transmembrane transport
G0034702cellular_componentmonoatomic ion channel complex
G0045444biological_processfat cell differentiation
G0071470biological_processcellular response to osmotic stress
G0098656biological_processmonoatomic anion transmembrane transport
G0140361biological_processcyclic-GMP-AMP transmembrane import across plasma membrane
Functional Information from SwissProt/UniProt
site_idSWS_FT_FI1
Number of Residues168
DetailsTRANSMEM: Helical; Name=1 => ECO:0000269|PubMed:36897307, ECO:0007744|PDB:8DXN, ECO:0007744|PDB:8DXO, ECO:0007744|PDB:8DXP, ECO:0007744|PDB:8DXQ, ECO:0007744|PDB:8DXR
ChainResidueDetails
ATRP23-VAL47
BTRP23-VAL47
CTRP23-VAL47
DTRP23-VAL47
ETRP23-VAL47
FTRP23-VAL47
GTRP23-VAL47

site_idSWS_FT_FI2
Number of Residues735
DetailsTOPO_DOM: Extracellular => ECO:0000269|PubMed:36897307, ECO:0007744|PDB:8DXN, ECO:0007744|PDB:8DXO, ECO:0007744|PDB:8DXP, ECO:0007744|PDB:8DXQ, ECO:0007744|PDB:8DXR
ChainResidueDetails
AMET48-ALA124
ESER285-HIS314
FMET48-ALA124
FSER285-HIS314
GMET48-ALA124
GSER285-HIS314
ASER285-HIS314
BMET48-ALA124
BSER285-HIS314
CMET48-ALA124
CSER285-HIS314
DMET48-ALA124
DSER285-HIS314
EMET48-ALA124

site_idSWS_FT_FI3
Number of Residues133
DetailsTRANSMEM: Helical; Name=2 => ECO:0000269|PubMed:36897307, ECO:0007744|PDB:8DXN, ECO:0007744|PDB:8DXO, ECO:0007744|PDB:8DXP, ECO:0007744|PDB:8DXQ, ECO:0007744|PDB:8DXR
ChainResidueDetails
ALYS125-PHE144
BLYS125-PHE144
CLYS125-PHE144
DLYS125-PHE144
ELYS125-PHE144
FLYS125-PHE144
GLYS125-PHE144

site_idSWS_FT_FI4
Number of Residues819
DetailsTOPO_DOM: Cytoplasmic => ECO:0000269|PubMed:36897307, ECO:0007744|PDB:8DXN, ECO:0007744|PDB:8DXO, ECO:0007744|PDB:8DXP, ECO:0007744|PDB:8DXQ, ECO:0007744|PDB:8DXR
ChainResidueDetails
ATRP145-TYR262
BTRP145-TYR262
CTRP145-TYR262
DTRP145-TYR262
ETRP145-TYR262
FTRP145-TYR262
GTRP145-TYR262

site_idSWS_FT_FI5
Number of Residues147
DetailsTRANSMEM: Helical; Name=3 => ECO:0000269|PubMed:36897307, ECO:0007744|PDB:8DXN, ECO:0007744|PDB:8DXO, ECO:0007744|PDB:8DXP, ECO:0007744|PDB:8DXQ, ECO:0007744|PDB:8DXR
ChainResidueDetails
AVAL263-VAL284
BVAL263-VAL284
CVAL263-VAL284
DVAL263-VAL284
EVAL263-VAL284
FVAL263-VAL284
GVAL263-VAL284

site_idSWS_FT_FI6
Number of Residues168
DetailsTRANSMEM: Helical; Name=4 => ECO:0000269|PubMed:36897307, ECO:0007744|PDB:8DXN, ECO:0007744|PDB:8DXO, ECO:0007744|PDB:8DXP, ECO:0007744|PDB:8DXQ, ECO:0007744|PDB:8DXR
ChainResidueDetails
ALEU315-TYR339
BLEU315-TYR339
CLEU315-TYR339
DLEU315-TYR339
ELEU315-TYR339
FLEU315-TYR339
GLEU315-TYR339

site_idSWS_FT_FI7
Number of Residues7
DetailsMOD_RES: Phosphoserine => ECO:0007744|PubMed:23186163
ChainResidueDetails
ASER212
BSER212
CSER212
DSER212
ESER212
FSER212
GSER212

site_idSWS_FT_FI8
Number of Residues7
DetailsMOD_RES: Phosphoserine => ECO:0000250|UniProtKB:Q498T9
ChainResidueDetails
ASER215
BSER215
CSER215
DSER215
ESER215
FSER215
GSER215

site_idSWS_FT_FI9
Number of Residues14
DetailsCARBOHYD: N-linked (GlcNAc...) asparagine => ECO:0000255
ChainResidueDetails
AASN64
EASN70
FASN64
FASN70
GASN64
GASN70
AASN70
BASN64
BASN70
CASN64
CASN70
DASN64
DASN70
EASN64

237735

PDB entries from 2025-06-18

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