UniProt functional annotation for O94856



	UniProt functional annotation for O94856

UniProt code: O94856.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions. {ECO:0000250}.

Subunit: Horseshoe-shaped homodimer. Probable constituent of a NFASC/NRCAM/ankyrin-G complex. Associates with the sodium channel beta- 1 (SCN1B) and beta-3 (SCN3B) subunits. Interacts with GLDN/gliomedin (By similarity). Interacts with MYOC. {ECO:0000250, ECO:0000269|PubMed:21047790, ECO:0000269|PubMed:23897819}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:30850329}; Single-pass type I membrane protein {ECO:0000255}.

Subcellular location: [Isoform 8]: Cell junction, paranodal septate junction {ECO:0000269|PubMed:30124836}.

Domain: Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains.

Disease: Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) [MIM:618356]: An autosomal recessive neurodevelopmental disorder with early onset and a highly variable phenotype. Disease features include hypotonia apparent from birth, poor feeding, global developmental delay with absence of reaction to touch and no eye contact, infantile-onset progressive ataxia and demyelinating peripheral neuropathy. {ECO:0000269|PubMed:28940097, ECO:0000269|PubMed:30124836, ECO:0000269|PubMed:30850329}. Note=The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous: [Isoform 2]: May be due to intron retention. {ECO:0000305}.

Miscellaneous: [Isoform 5]: May be due to intron retention. {ECO:0000305}.

Similarity: Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family. {ECO:0000305}.

Sequence caution: Sequence=BAA34476.3; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55195.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC87577.1; Type=Erroneous initiation; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions. {ECO:0000250}.


Subunit:		Horseshoe-shaped homodimer. Probable constituent of a NFASC/NRCAM/ankyrin-G complex. Associates with the sodium channel beta- 1 (SCN1B) and beta-3 (SCN3B) subunits. Interacts with GLDN/gliomedin (By similarity). Interacts with MYOC. {ECO:0000250, ECO:0000269\|PubMed:21047790, ECO:0000269\|PubMed:23897819}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:30850329}; Single-pass type I membrane protein {ECO:0000255}.
Subcellular location:		[Isoform 8]: Cell junction, paranodal septate junction {ECO:0000269\|PubMed:30124836}.
Domain:		Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains.
Disease:		Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) [MIM:618356]: An autosomal recessive neurodevelopmental disorder with early onset and a highly variable phenotype. Disease features include hypotonia apparent from birth, poor feeding, global developmental delay with absence of reaction to touch and no eye contact, infantile-onset progressive ataxia and demyelinating peripheral neuropathy. {ECO:0000269\|PubMed:28940097, ECO:0000269\|PubMed:30124836, ECO:0000269\|PubMed:30850329}. Note=The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous:		[Isoform 2]: May be due to intron retention. {ECO:0000305}.
Miscellaneous:		[Isoform 5]: May be due to intron retention. {ECO:0000305}.
Similarity:		Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family. {ECO:0000305}.
Sequence caution:		Sequence=BAA34476.3; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55195.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC87577.1; Type=Erroneous initiation; Evidence={ECO:0000305};