InnateDB Protein
|
IDBP-242738.7
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
TAC3
|
Protein Name
|
tachykinin 3
|
Synonyms
|
HH10; NKB; NKNB; PRO1155; ZNEUROK1;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000377445
|
InnateDB Gene
|
IDBG-41810 (TAC3)
|
Protein Structure
|
|
Function |
Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles (By similarity). Is a critical central regulator of gonadal function. {ECO:0000250, ECO:0000269PubMed:19079066}.
|
Subcellular Localization |
Secreted.
|
Disease Associations |
Hypogonadotropic hypogonadism 10 with or without anosmia (HH10) [MIM:614839]: A disorder 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. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. 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). {ECO:0000269PubMed:19079066, ECO:0000269PubMed:23643382}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
11
[view]
|
Protein-Protein |
11
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR003635
Neurokinin-B/Tachykinin-3
|
PFAM |
PF03823
|
PRINTS |
PR01828
|
PIRSF |
PIRSF001843
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9UHF0
|
PhosphoSite |
PhosphoSite-Q9UHF0
|
TrEMBL |
A0A024RB36
|
UniProt Splice Variant |
|
Entrez Gene |
6866
|
UniGene |
Hs.9730
|
RefSeq |
XP_006719640
|
HUGO |
HGNC:11521
|
OMIM |
162330
|
CCDS |
|
HPRD |
08877
|
IMGT |
|
EMBL |
AF186112
AF216586
AF537113
AF537114
AF537115
AF537116
AF537117
AF537118
AF537119
AF537120
AF537121
AY358679
BC032145
CH471054
CR457193
|
GenPept |
AAF01430
AAF76980
AAH32145
AAQ10783
AAQ10784
AAQ10785
AAQ10786
AAQ10787
AAQ10788
AAQ10789
AAQ10790
AAQ10791
AAQ89042
CAG33474
EAW96974
EAW96977
EAW96978
|
|
|