ソニック・ヘッジホッグ

SHH
PDBに登録されている構造
PDBオルソログ検索: RCSB PDBe PDBj
PDBのIDコード一覧

3HO5, 3M1N, 3MXW

識別子
記号SHH, HHG1, HLP3, HPE3, MCOPCB5, SMMCI, TPT, TPTPS, sonic hedgehog, Sonic hedgehog, ShhNC, sonic hedgehog signaling molecule
外部IDOMIM: 600725 MGI: 98297 HomoloGene: 30961 GeneCards: SHH
遺伝子の位置 (ヒト)
7番染色体 (ヒト)
染色体7番染色体 (ヒト)[1]
7番染色体 (ヒト)
SHH遺伝子の位置
SHH遺伝子の位置
バンドデータ無し開始点155,799,980 bp[1]
終点155,812,463 bp[1]
遺伝子の位置 (マウス)
5番染色体 (マウス)
染色体5番染色体 (マウス)[2]
5番染色体 (マウス)
SHH遺伝子の位置
SHH遺伝子の位置
バンドデータ無し開始点28,661,813 bp[2]
終点28,672,254 bp[2]
RNA発現パターン
さらなる参照発現データ
遺伝子オントロジー
分子機能 calcium ion binding
金属イオン結合
patched binding
ペプチダーゼ活性
zinc ion binding
laminin-1 binding
glycosaminoglycan binding
morphogen activity
加水分解酵素活性
血漿タンパク結合
endopeptidase activity
細胞の構成要素 細胞質基質
endoplasmic reticulum lumen

cell surface
脂質ラフト
細胞膜
細胞外空間
細胞外領域
細胞外マトリックス
生物学的プロセス positive regulation of skeletal muscle cell proliferation
パターン指定プロセス
myotube differentiation
mesenchymal cell proliferation
男性生殖器発生
bud outgrowth involved in lung branching
limb bud formation
T cell differentiation in thymus
embryonic pattern specification
positive regulation of skeletal muscle tissue development
positive regulation of immature T cell proliferation in thymus
positive regulation of kidney smooth muscle cell differentiation
negative regulation of Wnt signaling pathway
anatomical structure formation involved in morphogenesis
外胚葉の発生
hindgut morphogenesis
spinal cord dorsal/ventral patterning
formation of anatomical boundary
oligodendrocyte differentiation
気管発生
前立腺発生
negative regulation of transcription elongation from RNA polymerase II promoter
四肢の発生
脈管形成
primary prostatic bud elongation
heart looping
telencephalon regionalization
odontogenesis of dentin-containing tooth
positive regulation of mesenchymal cell proliferation
血管新生
positive regulation of epithelial cell proliferation involved in prostate gland development
positive regulation of striated muscle cell differentiation
negative regulation of proteasomal ubiquitin-dependent protein catabolic process
embryonic digestive tract morphogenesis
apoptotic signaling pathway
inner ear development
hair follicle morphogenesis
細胞増殖
metanephros development
lung epithelium development
negative regulation of canonical Wnt signaling pathway
regulation of proteolysis
branching involved in salivary gland morphogenesis
negative regulation of mesenchymal cell apoptotic process
positive regulation of neuroblast proliferation
dopaminergic neuron differentiation
intermediate filament organization
泌尿器系発生
cell fate commitment
regulation of transcription, DNA-templated
positive regulation of smoothened signaling pathway
アンドロゲン代謝プロセス
腎臓発生
肺発生
negative regulation of protein catabolic process
胸腺発生
embryonic organ development
negative regulation of cell differentiation
negative regulation of dopaminergic neuron differentiation
embryonic digit morphogenesis
negative regulation of alpha-beta T cell differentiation
positive regulation of sclerotome development
epithelial-mesenchymal cell signaling
遺伝子発現の負の調節
lymphoid progenitor cell differentiation
negative thymic T cell selection
positive regulation of transcription, DNA-templated
positive regulation of Wnt signaling pathway
ventral midline development
中枢神経系発生
心臓発生
branching involved in ureteric bud morphogenesis
negative regulation of T cell proliferation
embryonic limb morphogenesis
positive regulation of cell differentiation
branching involved in prostate gland morphogenesis
positive regulation of mesenchymal cell proliferation involved in ureter development
establishment of cell polarity
branching involved in blood vessel morphogenesis
positive regulation of cerebellar granule cell precursor proliferation
neuroblast proliferation
膵臓発生
positive regulation of protein import into nucleus
ヘッジホッグシグナル伝達経路
oligodendrocyte development
camera-type eye development
spinal cord motor neuron differentiation
positive regulation of alpha-beta T cell differentiation
digestive tract morphogenesis
hair follicle development
positive regulation of oligodendrocyte differentiation
roof of mouth development
左肺発生
striated muscle tissue development
positive regulation of T cell differentiation in thymus
cellular response to lithium ion
embryonic foregut morphogenesis
解剖学的構造の発生
視床発生
stem cell development
smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation
cell fate specification
negative regulation of apoptotic process
negative regulation of transcription by RNA polymerase II
regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry
タンパク質分解
embryonic skeletal system development
regulation of protein localization to nucleus
odontogenesis
気道発生
regulation of prostatic bud formation
甲状腺発生
negative regulation of cell migration
developmental growth
右肺発生
determination of left/right asymmetry in lateral mesoderm
positive thymic T cell selection
mesenchymal smoothened signaling pathway involved in prostate gland development
canonical Wnt signaling pathway
遺伝子発現調節
osteoblast development
negative regulation of cholesterol efflux
dorsal/ventral neural tube patterning
regulation of epithelial cell proliferation involved in prostate gland development
epithelial-mesenchymal signaling involved in prostate gland development
dorsal/ventral pattern formation
branching morphogenesis of an epithelial tube
lung lobe morphogenesis
embryonic forelimb morphogenesis
中脳発生
皮膚発生
regulation of odontogenesis
regulation of mesenchymal cell proliferation involved in prostate gland development
mesenchymal cell proliferation involved in lung development
positive regulation of hh target transcription factor activity
prostate epithelial cord elongation
metanephric mesenchymal cell proliferation involved in metanephros development
エンドサイトーシス
lung morphogenesis
細胞発生
trachea morphogenesis
epithelial cell proliferation involved in salivary gland morphogenesis
細胞間シグナル伝達
salivary gland cavitation
菱脳発生
凝固・線溶系
negative regulation of kidney smooth muscle cell differentiation
somite development
cerebellar granule cell precursor proliferation
軸索誘導
negative regulation of ureter smooth muscle cell differentiation
positive regulation of ureter smooth muscle cell differentiation
多細胞個体の発生
animal organ formation
intein-mediated protein splicing
determination of left/right symmetry
脈管構造発生
positive regulation of gene expression
regulation of cell population proliferation
embryonic morphogenesis
neural crest cell migration
polarity specification of anterior/posterior axis
positive regulation of cell population proliferation
動脈発生
protein localization to nucleus
Bergmann glial cell differentiation
前脳発生
neuron fate commitment
CD4-positive or CD8-positive, alpha-beta T cell lineage commitment
striated muscle cell differentiation
myoblast differentiation
lung-associated mesenchyme development
epithelial tube branching involved in lung morphogenesis
positive regulation of cell division
positive regulation of transcription by RNA polymerase II
anterior/posterior pattern specification
embryonic hindlimb morphogenesis
forebrain regionalization
cell proliferation in external granule layer
tracheoesophageal septum formation
regulation of signaling receptor activity
出典:Amigo / QuickGO
オルソログ
ヒトマウス
Entrez
Ensembl
UniProt
RefSeq
(mRNA)

NM_000193
NM_001310462

NM_009170

RefSeq
(タンパク質)

NP_000184
NP_001297391

NP_033196

場所
(UCSC)
Chr 7: 155.8 – 155.81 MbChr 7: 28.66 – 28.67 Mb
PubMed検索[3][4]
ウィキデータ
閲覧/編集 ヒト閲覧/編集 マウス

ソニック・ヘッジホッグ (Sonic hedgehog, SHH) は、ヘッジホッグ (HH) ファミリーに属する5種類のタンパク質の内の1つ。これをコーディングする遺伝子=ソニック・ヘッジホッグ遺伝子は、shhと小文字で表記する。このファミリーの他のタンパク質には、哺乳類ではデザート・ヘッジホッグ (Desert Hedgehog, DHH)、インディアン・ヘッジホッグ (Indian Hedgehog, IHH)があり、魚類ではエキドナ・ヘッジホッグ (Echidna Hedgehog, EHH) とティギーウィンクル・ヘッジホッグ (Tiggywinkle Hedgehog, TwHH) がある。

ヘッジホッグ遺伝子 (hh) は最初にエリック・ヴィーシャウスクリスティアーネ・ニュスライン=フォルハルトの古典的なハイデルベルク・スクリーンにより同定されて、1978年に発表された。 2人が1995年ノーベル生理学・医学賞を得たこれらのスクリーニングで、ショウジョウバエ (Drosophila melanogaster) のの分節パターンをコントロールするこの遺伝子が同定された。hh遺伝子の機能を失った変異体表現型の胚は小さな歯の様な突起物(歯状突起)が密集しており、ヘッジホッグ(ハリネズミ)という名前が付いた。

名称

哺乳類には3種類の相同遺伝子があり、先に見つかった2種類、デザート及びインディアン・ヘッジホッグは実在するハリネズミの種類から命名された一方、ソニック・ヘッジホッグは発見者がファンだった家庭用ゲーム機セガジェネシス日本でのメガドライブ)のキャラクターソニック・ザ・ヘッジホッグ 」から名づけられた。後にゼブラフィッシュから見つかった2種類についての命名は、エキドナ・ヘッジホッグがハリモグラ[5]から、ティギーウィンクル・ヘッジホッグがビアトリクス・ポター作の絵本のキャラクター名、ティギーおばさん (Mrs. Tiggy-Winkle) から来ている。

機能

これらの遺伝子から合成されるHHタンパク質相同体の中で、SHHは発生において最も重要なモルフォゲンとして、四肢や、脊髄正中線構造などの、多くの器官系のデザインを形成する役割がある。

ヒト・ソニック・ヘッジホッグ遺伝子の変異では、腹側正中線の欠失が生じて全前脳胞症 (HPE) を引き起こすほか、シス調節エレメントの変化が原因で多指症になることなどが知られている。

参照

注釈

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164690 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000002633 - Ensembl, May 2017
  3. ^ Human PubMed Reference:
  4. ^ Mouse PubMed Reference:
  5. ^ なお、上述のゲーム作品「ソニックシリーズ」には、ナックルズ・ザ・エキドゥナというハリモグラのキャラクターも登場する。

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