NDNF
entrez
79625
canonical
uniprot
Q8TB73
canonical
ensembl
ENSG00000173376
resolver
ensp
ENSP00000369014
resolver
ensp
ENSP00000541833
resolver
ensp
ENSP00000541834
resolver
ensp
ENSP00000541835
resolver
ensp
ENSP00000541837
resolver
ensp
ENSP00000541838
resolver
ensp
ENSP00000541839
resolver
ensp
ENSP00000629963
resolver
ensp
ENSP00000629964
resolver
enst
ENST00000379692
resolver
enst
ENST00000871774
resolver
enst
ENST00000871775
resolver
enst
ENST00000871776
resolver
enst
ENST00000871778
resolver
enst
ENST00000871779
resolver
enst
ENST00000871780
resolver
enst
ENST00000959904
resolver
enst
ENST00000959905
resolver
genesymbol
NDNF
resolver
genesymbol_syn
C4orf31
resolver
hgnc
HGNC:26256
resolver
uniprot
A8K0Q0
resolver
uniprot
Q6UWE5
resolver
uniprot
Q9H5P7
resolver
uniprot_entry
NDNF_HUMAN
resolver
uniprot_sec
A8K0Q0
resolver
uniprot_sec
Q6UWE5
resolver
uniprot_sec
Q9H5P7
resolver
amino_acid_sequence
MVLLHWCLLWLLFPLSSRTQKLPTRDEELFQMQIRDKAFFHDSSVIPDGAEISSYLFRDTPKRYFFVVEEDNTPLSVTVTPCDAPLEWKLSLQELPEDRSGEGSGDLEPLEQQKQQIINEEGTELFSYKGNDVEYFISSSSPSGLYQLDLLSTEKDTHFKVYATTTPESDQPYPELPYDPRVDVTSLGRTTVTLAWKPSPTASLLKQPIQYCVVINKEHNFKSLCAVEAKLSADDAFMMAPKPGLDFSPFDFAHFGFPSDNSGKERSFQAKPSPKLGRHVYSRPKVDIQKICIGNKNIFTVSDLKPDTQYYFDVFVVNINSNMSTAYVGTFARTKEEAKQKTVELKDGKITDVFVKRKGAKFLRFAPVSSHQKVTFFIHSCLDAVQIQVRRDGKLLLSQNVEGIQQFQLRGKPKAKYLVRLKGNKKGASMLKILATTRPTKQSFPSLPEDTRIKAFDKLRTCSSATVAWLGTQERNKFCIYKKEVDDNYNEDQKKREQNQCLGPDIRKKSEKVLCKYFHSQNLQKAVTTETIKGLQPGKSYLLDVYVIGHGGHSVKYQSKVVKTRKFC
uniprot
proteins
disease_involvement
DISEASE: Hypogonadotropic hypogonadism 25 with anosmia (HH25) [MIM:618841]: A form of hypogonadotropic hypogonadism, a group of disorders characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone, and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). HH25 is an autosomal dominant form with anosmia, characterized by intrafamilial variable expressivity and incomplete penetrance. {ECO:0000269|PubMed:31883645}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Secretory protein that plays a role in various cellular processes (PubMed:20969804, PubMed:24706764, PubMed:31883645). Acts as a chemorepellent acting on gonadotropin-releasing hormone (GnRH) expressing neurons regulating their migration to the hypothalamus (PubMed:31883645). Also promotes neuron migration, growth and survival as well as neurite outgrowth and is involved in the development of the olfactory system (PubMed:20969804, PubMed:31883645). May also act through the regulation of growth factors activity and downstream signaling (PubMed:31883645). Also regulates extracellular matrix assembly and cell adhesiveness (By similarity). Promotes endothelial cell survival, vessel formation and plays an important role in the process of revascularization through NOS3-dependent mechanisms (PubMed:24706764). {ECO:0000250|UniProtKB:Q8C119, ECO:0000269|PubMed:20969804, ECO:0000269|PubMed:24706764, ECO:0000269|PubMed:31883645}.
uniprot
proteins
mass_dalton
64673
uniprot
proteins
post_translational_modification
PTM: O-glycosylated; contains heparan sulfate and chondroitin sulfate. {ECO:0000250|UniProtKB:Q8C119}.; PTM: N-glycosylated. {ECO:0000250|UniProtKB:Q8C119}.
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20969804
uniprot
proteins
pubmed
24706764
uniprot
proteins
pubmed
31883645
uniprot
proteins
sequence_length
568
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:20969804, ECO:0000269|PubMed:24706764, ECO:0000269|PubMed:31883645}.
uniprot
proteins