音猬因子印度刺猬因子IHH (protein) 沙漠刺猬因子DHH (hedgehog) GLI1GLI1 GLI2GLI2 GLI3GLI3 胞外神經肽生长因子细胞因子激素細胞表面受體Template:Cell surface receptors 配体门控离子通道酶联受體G蛋白偶聯受體免疫球蛋白超家族Template:Immunoglobulin superfamily immune receptors 整合素神經肽受體生長因子受體细胞因子受體胞內受體蛋白Template:Signal transducing adaptor proteins GTP-bindingTemplate:GTP-binding protein regulators MAP激酶鈣信號脂質系號hedgehogWntTGF-βMAPK ERKTemplate:MAPK ERK signaling pathway notchTemplate:Notch signaling pathway JAK-STAT細胞凋亡hippoTemplate:Hippo signaling pathway TLR
人类蛋白质蛋白质形态发生素HINT域细胞信号传导配体
英语刺蝟因子四肢腦脊髓正中線刺猬信号通路諾貝爾生理學或醫學獎艾瑞克·威斯喬斯克里斯汀·紐斯林-沃爾哈德黑腹果蠅刺蝟刺蝟世嘉刺蝟索尼克克隆水蛭海胆小鼠斑马鱼鸡大鼠人Zbtb7寵物小精靈比卡超林皮卡丘
音猬因子
3D structure of the signaling domain of the murine Sonic hedgehog from PDB 1vhh
有效结构
PDB
直系同源检索:PDBe, RCSB
PDB查询代码列表
3HO5 , 3M1N , 3MXW
标识
代号
SHH; HHG1; HLP3; HPE3; MCOPCB5; SMMCI; TPT; TPTPS
扩展标识
遗传学:600725 鼠基因:98297 同源基因:30961 GeneCards: SHH Gene
基因本体论描述
分子功能
· glycoprotein binding · signal transducer activity · patched binding · calcium ion binding · protein binding · glycosaminoglycan binding · peptidase activity · zinc ion binding
· laminin-1 binding
细胞成分
· extracellular region · extracellular space · extracellular space · membrane fraction · nucleus · endoplasmic reticulum · Golgi apparatus · plasma membrane · cell surface · transport vesicle · extracellular matrix
· membrane raft
生物过程
· patterning of blood vessels · vasculogenesis · metanephros development · branching involved in ureteric bud morphogenesis · response to hypoxia · cell fate specification · neural crest cell migration · neural tube formation · vasculature development · heart looping · positive regulation of neuroblast proliferation · positive regulation of mesenchymal cell proliferation · osteoblast development · lymphoid progenitor cell differentiation · endocytosis · signal transduction · smoothened signaling pathway · positive regulation of hh target transcription factor activity · cell-cell signaling · determination of left/right symmetry · pattern specification process · ectoderm development · neuroblast proliferation · axon guidance · central nervous system development · ventral midline development · hindgut morphogenesis · digestive tract mesoderm development · heart development · blood coagulation · androgen metabolic process · cell death · positive regulation of cell proliferation · embryo development · anterior/posterior pattern formation · dorsal/ventral pattern formation · response to organic nitrogen · oligodendrocyte development · striated muscle tissue development · positive regulation of skeletal muscle cell proliferation · myotube differentiation · intein-mediated protein splicing · spinal cord dorsal/ventral patterning · ventral spinal cord interneuron specification · dorsal/ventral neural tube patterning · smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation · positive regulation of cerebellar granule cell precursor proliferation · telencephalon regionalization · establishment of cell polarity · regulation of proteolysis · positive regulation of Wnt receptor signaling pathway · lung development · embryonic limb morphogenesis · negative regulation of cell migration · male genitalia development · prostate gland development · regulation of epithelial cell differentiation · thyroid gland development · forebrain development · midbrain development · hindbrain development · pancreas development · hair follicle morphogenesis · response to estradiol stimulus · negative regulation of proteasomal ubiquitin-dependent protein catabolic process · response to retinoic acid · T cell differentiation in thymus · positive regulation of T cell differentiation in thymus · positive regulation of immature T cell proliferation in thymus · embryonic forelimb morphogenesis · embryonic hindlimb morphogenesis · regulation of cell proliferation · negative regulation of T cell proliferation · positive regulation of protein import into nucleus · odontogenesis of dentine-containing tooth · embryonic digit morphogenesis · camera-type eye development · negative regulation of apoptosis · CD4-positive or CD8-positive, alpha-beta T cell lineage commitment · tongue morphogenesis · skin development · positive thymic T cell selection · negative thymic T cell selection · intermediate filament organization · myoblast differentiation · response to ethanol · negative regulation of cell differentiation · positive regulation of transcription, DNA-dependent · positive regulation of transcription from RNA polymerase II promoter · positive regulation of photoreceptor cell differentiation · positive regulation of alpha-beta T cell differentiation · negative regulation of alpha-beta T cell differentiation · cell development · thymus development · embryonic digestive tract morphogenesis · embryonic organ development · developmental growth · embryonic foregut morphogenesis · positive regulation of skeletal muscle tissue development · organ formation · neuron fate commitment · response to axon injury · embryonic skeletal system development · positive regulation of oligodendrocyte differentiation · branching morphogenesis of a tube · male genitalia morphogenesis · inner ear development · formation of anatomical boundary · stem cell development · positive regulation of striated muscle cell differentiation · Bergmann glial cell differentiation · palate development · limb development · limb bud formation · positive regulation of penile erection · lung epithelium development · trachea morphogenesis · branching involved in salivary gland morphogenesis · bud outgrowth involved in lung branching · right lung development · left lung development · lung lobe morphogenesis · lung-associated mesenchyme development · primary prostatic bud elongation · prostate epithelial cord elongation · salivary gland cavitation · epithelial cell proliferation involved in salivary gland morphogenesis · regulation of prostatic bud formation · epithelial-mesenchymal signaling involved in prostate gland development · positive regulation of epithelial cell proliferation involved in prostate gland development · regulation of mesenchymal cell proliferation involved in prostate gland development · mesenchymal smoothened signaling pathway involved in prostate gland development · artery development · mesenchymal cell proliferation involved in lung development · sclerotome development · positive regulation of oligodendrocyte progenitor proliferation · cellular response to lithium ion · metanephric mesenchymal cell proliferation involved in metanephros development · regulation of mesenchymal cell proliferation involved in ureter development · multicellular structure septum development · negative regulation of canonical Wnt receptor signaling pathway · negative regulation of ureter smooth muscle cell differentiation · positive regulation of ureter smooth muscle cell differentiation · negative regulation of kidney smooth muscle cell differentiation
· positive regulation of kidney smooth muscle cell differentiation
Sources: Amigo / QuickGO
RNA表达模式
更多表达数据
直系同源体
物种
人类
小鼠
Entrez
6469
20423
Ensembl
ENSG00000164690
ENSMUSG00000002633
UniProt
Q15465
Q8C765
mRNA序列
NM_000193.2
NM_009170.3
蛋白序列
NP_000184.1
NP_033196.1
基因位置
Chr 7: 155.59 – 155.6 Mb
Chr 5: 28.78 – 28.79 Mb
PubMed查询
[1]
[2]
音蝟因子 (英语:Sonic hedgehog ,简称SHH )是5種刺蝟因子 (英语:Hedgehog ,简称HH ,其他四种是沙漠刺猬因子 ,DHH 、印度刺猬因子 ,IHH 、Echidna Hedgehog,EHH 和Tiggywinkle Hedgehog,TwHH )中的一種。
刺蝟因子是重要的信号传导途径。而音蝟因子則是刺蝟信号传导途径中研究最透彻的配体,這種因子作为重要的形态发生素(Morphogen),在调节脊椎动物器官发育中起关键作用,比如它决定四肢以及腦脊髓正中線的形成。音蝟因子在成年个体中也很重要,它控制成年体细胞的分裂。音蝟因子的失控将导致癌症。
目录
1 發表
2 命名
3 研究
4 疾病
5 逸聞
6 另見
7 參考文獻
發表
這種刺猬基因(刺猬信号通路, hh )是由1995年諾貝爾生理學或醫學獎得主艾瑞克·威斯喬斯以及克里斯汀·紐斯林-沃爾哈德所確認,他們的研究於1980年發表[1] 。這個發表更為他們帶來了1995年的諾貝爾生理學或醫學獎。
命名
當初於黑腹果蠅(Drosophila)身上進行研究時,發現當這類因子發生突變時,果蠅的幼蟲表皮上會長滿了短的倒刺,就好像刺蝟的模樣。因此就命名為「刺蝟」(Hedgehog)。
及後當發現了更多此類型的基因後,為分別就以「刺蝟」為基本去進行命名。當中有兩種先被發現的刺蝟因子 - 沙漠刺猬因子 (Desert Hedgehog,DHH)以及印度刺猬因子 (Indian Hedgehog,IHH)就是以兩種現實存在的刺蝟去進行命名。而及後發現的「音蝟因子」則是以世嘉一套相當有名的電玩主角刺蝟索尼克(Sonic the Hedgehog)而進行命名。
研究
果蝇的刺蝟因子在上世纪的90年代早期被克隆。除果蝇外,也有在其他非脊椎动物中克隆這類基因,如水蛭和海胆。
至於脊椎动物,其直系同源基因于1993年被克隆,包括的動物有小鼠,斑马鱼和鸡。之后不久,分别于1994年及1995年,第一个大鼠和人的刺蝟因子也宣告克隆成功。
疾病
當音蝟因子發生突變,會因腹側正中線缺失而引起[前腦發育畸形症]Holoprosencephaly(HPE)。而音蝟因子在成年个体中的失调亦会导致癌症。
逸聞
這種利用電玩去命名的原則也發生在前稱「Pokemon」的Zbtb7因子(與《寵物小精靈》的名字相同),以及對視力相關的比卡超林(Pikachurin)(以寵物小精靈中的皮卡丘命名)。然前者卻因專利與商標問題被迫更名。
另見
參考文獻
^ Nüsslein-Volhard C, Wieschaus E. Mutations affecting segment number and polarity in Drosophila. Nature. October 1980, 287 (5785): 795–801. PMID 6776413 . doi:10.1038/287795a0 .
信号转导:刺猬信号通路
配体
受体
转录因子
其它
信号转导索引
描述
胞外
細胞表面受體
配体门控离子通道
酶联受體
G蛋白偶聯受體
免疫球蛋白超家族
整合素
神經肽受體
生長因子受體
细胞因子受體
胞內
鈣信號
脂質系號
路徑
hedgehog
Wnt
TGF-β
MAPK ERK
notch
JAK-STAT
細胞凋亡
hippo
TLR