2. Gene
  3. HHAT - hedgehog acyltransferase Gene

HHAT - hedgehog acyltransferase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：刺猬酰基转移酶

种属: Homo sapiens

同用名: Skn; NNMS; SKI1; MART2

基因 ID: 55733 | 基因类型: protein coding

关于 HHAT

Cytogenetic location: 1q32.2 Genomic coordinates (GRCh38): 1:210,327,328-210,676,290 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 210 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 3.0), gall bladder (RPKM 1.6) and 25 other tissues.

功能概要

Skinny hedgehog' (SKI1) 编码一种酶，该酶在分泌途径中起作用以催化 'hedgehog' 的氨基末端棕榈酰化 (参见 MIM 600725) 。[OMIM 提供，2002 年 7 月]

'Skinny hedgehog' (SKI1) encodes an Enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]

HHAT 基因产物(6)

mRNA Protein Name
NM_001122834.4 NP_001116306.1 protein-cysteine N-palmitoyltransferase HHAT isoform 1
NM_001170564.3 NP_001164035.1 protein-cysteine N-palmitoyltransferase HHAT isoform 2
NM_001170580.3 NP_001164051.1 protein-cysteine N-palmitoyltransferase HHAT isoform 1
NM_001170587.3 NP_001164058.1 protein-cysteine N-palmitoyltransferase HHAT isoform 4
NM_001170588.3 NP_001164059.1 protein-cysteine N-palmitoyltransferase HHAT isoform 3
NM_018194.6 NP_060664.2 protein-cysteine N-palmitoyltransferase HHAT isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in N-terminal peptidyl-L-cysteine N-palmitoylation IMP
IMP: 通过突变表型推断
18534984 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
18534984 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
18534984 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

HHAT 蛋白结构

MBOAT

MBOAT: MBOAT, membrane-bound O-acyltransferase family (130 - 441)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 493 a.a.
蛋白主名 其他名称

protein-cysteine N-palmitoyltransferase HHAT

melanoma antigen recognized by T-cells 2

关联疾病

疾病名称 别名
Nivelon-Nivelon-Mabille Syndrome

Chondrodysplasia-Pseudohermaphroditism Syndrome

NNMS

Chondrodysplasia-Disorder Of Sex Development Syndrome

Nivelon Nivelon Mabille Syndrome
Ancylostomiasis

Ankylostomiasis

Hookworm Infection

Hookworm Infections

Ancylostomiasis Due To Ancylostoma Duodenale

Ancylostoma Duodenale Infection
Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome
Allergic Bronchopulmonary Aspergillosis

Aspergillosis, Allergic Bronchopulmonary

Abpa

Allergic Bronchopulmonary Mycosis

Hinson-Pepys Disease

Pulmonary Aspergillus Disease

Allergic Aspergillosis

Aspergillosis Allergic Bronchopulmonary
Cutaneous Ganglioneuroma

Ganglioneuroma Of Skin
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas
Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome

Gorlin Syndrome

Nbccs

BCNS

Gorlin-Goltz Syndrome

Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies

Cerebral Gigantism Jaw Cysts

Cramer Niederdellmann Syndrome

Gorlin Syndrome Or Gorlin-Goltz Syndrome

Naevoid Basal Cell Carcinoma Syndrome
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (6)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-18366A RU-SKI 43 hydrochloride Inhibitor 99.55% 否
HY-18366 RU-SKI 43 Inhibitor / 否
HY-123781A RUSKI-201 dihydrochloride Inhibitor / 否
HY-161175 IMP-1575 Inhibitor / 否
HY-RS06157 HHAT Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-123781 RUSKI-201 Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus HHAT VGNC VGNC:62807
Mus musculus HHAT MGD MGI:2444681
Rattus norvegicus HHAT RGD RGD:1311746
Bos taurus HHAT VGNC VGNC:106767
Canis familiaris HHAT VGNC VGNC:41679
Macaca mulatta HHAT VGNC VGNC:99968
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