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  2. HHAT - hedgehog acyltransferase Gene

HHAT - hedgehog acyltransferase Gene

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

HHAT 蛋白结构

MBOAT

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

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  • 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

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