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The ninjurin protein is upregulated after nerve injury both in dorsal root ganglion neurons and in Schwann cells (Araki and Milbrandt, 1996 [PubMed 8780658]). It demonstrates properties of a homophilic adhesion molecule and promotes neurite outgrowth from primary cultured dorsal root ganglion neurons.[supplied by OMIM, Aug 2009]
NINJ1 (Ninjurin 1) is a Protein Coding gene. Diseases associated with NINJ1 include Hereditary Sensory Neuropathy and Waardenburg Syndrome, Type 4C. An important paralog of this gene is NINJ2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | TAS,IBA | 21873635 |
GO:0007399 | nervous system development | TAS | 9261151 |
GO:0042246 | tissue regeneration | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||
SP4: | |||||||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NINJ1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NINJ1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ninj1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ninj1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | NINJ1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NINJ1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NINJ1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NINJ1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NINJ1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ninj1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100150223 30 |
|
||
NINJ1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG14394 31 |
|
ManyToMany | |
CG11637 31 |
|
ManyToMany | |||
NijA 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2275848 | - |
p.Ala110Asp |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1128505 | CNV | deletion | 24896259 |
nsv1134927 | CNV | tandem duplication | 24896259 |
nsv1161884 | CNV | deletion | 26073780 |
nsv526296 | CNV | loss | 19592680 |
nsv614879 | CNV | loss | 21841781 |
nsv824982 | CNV | gain | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hereditary sensory neuropathy |
|
|
waardenburg syndrome, type 4c |
|
|