Q8N135 · LGI4_HUMAN
- ProteinLeucine-rich repeat LGI family member 4
- GeneLGI4
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids537 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Component of Schwann cell signaling pathway(s) that controls axon segregation and myelin formation (By similarity).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | extracellular region | |
Cellular Component | extracellular space | |
Biological Process | adult locomotory behavior | |
Biological Process | glial cell proliferation | |
Biological Process | myelination in peripheral nervous system | |
Biological Process | neuron maturation | |
Biological Process | regulation of myelination |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameLeucine-rich repeat LGI family member 4
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8N135
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (AMC1)
- Note
- DescriptionA form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC1 is an autosomal recessive severe form with onset in utero. Most affected individuals die in utero. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect.
- See alsoMIM:617468
Natural variants in AMC1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_080055 | 258 | R>P | in AMC1; dbSNP:rs755500591 | |
VAR_080056 | 288-537 | missing | in AMC1 | |
VAR_080057 | 434 | V>D | in AMC1; dbSNP:rs1064797094 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_080055 | 258 | in AMC1; dbSNP:rs755500591 | |||
Sequence: R → P | ||||||
Natural variant | VAR_080056 | 288-537 | in AMC1 | |||
Sequence: Missing | ||||||
Natural variant | VAR_080057 | 434 | in AMC1; dbSNP:rs1064797094 | |||
Sequence: V → D |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 727 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, glycosylation.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-19 | |||||
Sequence: MGGAGILLLLLAGAGVVVA | ||||||
Chain | PRO_0000017712 | 20-537 | Leucine-rich repeat LGI family member 4 | |||
Sequence: WRPPKGKCPLRCSCSKDSALCEGSPDLPVSFSPTLLSLSLVRTGVTQLKAGSFLRIPSLHLLLFTSNSFSVIEDDAFAGLSHLQYLFIEDNEIGSISKNALRGLRSLTHLSLANNHLETLPRFLFRGLDTLTHVDLRGNPFQCDCRVLWLLQWMPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRAIELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDYSLQRFRPEEELPAASVVSCKPLVLGPSLFVLAARLWGGSQLWARPSPGLRLAPTQTLAPRRLLRPNDAELLWLEGQPCFVVADASKAGSTTLLCRDGPGFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTGGRFERRTDIPEAEDVYATRHFQAGGDVFLCLTRYIGDSMVMRWDGSMFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLRLEPDKGLLEPLQELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHEIDLSA | ||||||
Glycosylation | 177 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Widely expressed, with highest expression in brain.
Gene expression databases
Organism-specific databases
Structure
Family & Domains
Features
Showing features for repeat, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 53-74 | LRR 1 | ||||
Sequence: TLLSLSLVRTGVTQLKAGSFLR | ||||||
Repeat | 77-98 | LRR 2 | ||||
Sequence: SLHLLLFTSNSFSVIEDDAFAG | ||||||
Repeat | 101-122 | LRR 3 | ||||
Sequence: HLQYLFIEDNEIGSISKNALRG | ||||||
Repeat | 125-146 | LRR 4 | ||||
Sequence: SLTHLSLANNHLETLPRFLFRG | ||||||
Domain | 158-208 | LRRCT | ||||
Sequence: NPFQCDCRVLWLLQWMPTVNASVGTGACAGPASLSHMQLHHLDPKTFKCRA | ||||||
Repeat | 210-252 | EAR 1 | ||||
Sequence: ELSWFQTVGESALSVEPFSYQGEPHIVLAQPFAGRCLILSWDY | ||||||
Repeat | 256-298 | EAR 2 | ||||
Sequence: RFRPEEELPAASVVSCKPLVLGPSLFVLAARLWGGSQLWARPS | ||||||
Repeat | 302-349 | EAR 3 | ||||
Sequence: RLAPTQTLAPRRLLRPNDAELLWLEGQPCFVVADASKAGSTTLLCRDG | ||||||
Repeat | 351-394 | EAR 4 | ||||
Sequence: GFYPHQSLHAWHRDTDAEALELDGRPHLLLASASQRPVLFHWTG | ||||||
Repeat | 396-439 | EAR 5 | ||||
Sequence: RFERRTDIPEAEDVYATRHFQAGGDVFLCLTRYIGDSMVMRWDG | ||||||
Repeat | 441-483 | EAR 6 | ||||
Sequence: MFRLLQQLPSRGAHVFQPLLIARDQLAILGSDFAFSQVLRLEP | ||||||
Repeat | 487-532 | EAR 7 | ||||
Sequence: LLEPLQELGPPALVAPRAFAHITMAGRRFLFAACFKGPTQIYQHHE |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 2 isoforms produced by Alternative splicing.
Q8N135-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length537
- Mass (Da)59,141
- Last updated2002-10-01 v1
- Checksum47B920C809679926
Q8N135-2
- Name2
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Features
Showing features for alternative sequence.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF467954 EMBL· GenBank· DDBJ | AAM49552.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ487959 EMBL· GenBank· DDBJ | CAD32306.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ487519 EMBL· GenBank· DDBJ | CAD31787.1 EMBL· GenBank· DDBJ | mRNA | ||
AY358121 EMBL· GenBank· DDBJ | AAQ88488.1 EMBL· GenBank· DDBJ | mRNA | ||
BC087848 EMBL· GenBank· DDBJ | AAH87848.1 EMBL· GenBank· DDBJ | mRNA | ||
BC136694 EMBL· GenBank· DDBJ | AAI36695.1 EMBL· GenBank· DDBJ | mRNA | ||
BC136697 EMBL· GenBank· DDBJ | AAI36698.1 EMBL· GenBank· DDBJ | mRNA |