UniProt functional annotation for O95631



	UniProt functional annotation for O95631

UniProt code: O95631.

Organism: Homo sapiens (Human).

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

Function: Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. Binding to UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Involved in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977). It also serves as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involved in tumorigenesis by regulating apoptosis (PubMed:15343335). {ECO:0000269|PubMed:15343335, ECO:0000269|PubMed:28483977}.

Subunit: Binds to its receptors; DCC, UNC5A, UNC5B, UNC5C and probably UNC5D (PubMed:9950216). Binds to its receptor; DSCAM (PubMed:19196994). Interacts with APP (By similarity). {ECO:0000250|UniProtKB:O09118, ECO:0000269|PubMed:19196994, ECO:0000269|PubMed:9950216, ECO:0000303|PubMed:9950216}.

Subcellular location: Secreted {ECO:0000269|PubMed:28945198}. Cytoplasm {ECO:0000269|PubMed:28945198}. Note=Mainly secreted. {ECO:0000269|PubMed:28945198}.

Tissue specificity: Widely expressed in normal adult tissues with highest levels in heart, small intestine, colon, liver and prostate. Reduced expression in brain tumors and neuroblastomas. Expressed in epididymis (at protein level). {ECO:0000269|PubMed:20736409, ECO:0000269|PubMed:9950216}.

Disease: Mirror movements 4 (MRMV4) [MIM:618264]: A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. MRMV4 inheritance is autosomal dominant. {ECO:0000269|PubMed:28945198}. Note=The disease is caused by variants affecting the gene represented in this entry.

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:		Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. Binding to UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Involved in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977). It also serves as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involved in tumorigenesis by regulating apoptosis (PubMed:15343335). {ECO:0000269\|PubMed:15343335, ECO:0000269\|PubMed:28483977}.


Subunit:		Binds to its receptors; DCC, UNC5A, UNC5B, UNC5C and probably UNC5D (PubMed:9950216). Binds to its receptor; DSCAM (PubMed:19196994). Interacts with APP (By similarity). {ECO:0000250\|UniProtKB:O09118, ECO:0000269\|PubMed:19196994, ECO:0000269\|PubMed:9950216, ECO:0000303\|PubMed:9950216}.
Subcellular location:		Secreted {ECO:0000269\|PubMed:28945198}. Cytoplasm {ECO:0000269\|PubMed:28945198}. Note=Mainly secreted. {ECO:0000269\|PubMed:28945198}.
Tissue specificity:		Widely expressed in normal adult tissues with highest levels in heart, small intestine, colon, liver and prostate. Reduced expression in brain tumors and neuroblastomas. Expressed in epididymis (at protein level). {ECO:0000269\|PubMed:20736409, ECO:0000269\|PubMed:9950216}.
Disease:		Mirror movements 4 (MRMV4) [MIM:618264]: A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. MRMV4 inheritance is autosomal dominant. {ECO:0000269\|PubMed:28945198}. Note=The disease is caused by variants affecting the gene represented in this entry.