ALX1 - ALX homeobox 1 Gene

中文名称：ALX 同源框 1

种属: Homo sapiens

同用名: FND3; CART1; HEL23

基因 ID: 8092 | 基因类型: protein coding

关于 ALX1

Cytogenetic location: 12q21.31 Genomic coordinates (GRCh38): 12:85,280,220-85,301,784 (from NCBI)

This gene has 1 transcript (splice variant), 197 orthologues, 50 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 1.7), ovary (RPKM 0.6) and 5 other tissues.

功能概要

该基因在人类中的具体功能尚未确定；然而，在啮齿动物中，它是前脑间充质存活所必需的，并且还可能参与子宫颈的发育。小鼠基因的突变会导致神经管缺陷，例如颅骨缺损和无脑畸形。[RefSeq 提供，2008 年 7 月]

The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the mouse gene lead to neural tube defects such as acrania and meroanencephaly. [provided by RefSeq, Jul 2008]

ALX1 基因产物(1)

mRNA	Protein	Name
NM_006982.3	NP_008913.2	ALX homeobox protein 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 DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	9753625	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	9753625	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within negative regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	8756334	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	9753625	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: 通过突变表型推断	23288509	GOA
involved in positive regulation of epithelial to mesenchymal transition	IMP IMP: 通过突变表型推断	23288509	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	9753625	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	9753625	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

ALX1 蛋白结构

Homeobox

OAR

0
100
200
300
326 a.a.

蛋白主名

其他名称

ALX homeobox protein 1

CART-1

ALX1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	ALX1	Q15699	PACRGL	Homo sapiens	Q8N7B6-2	Validated Y2H	32296183
Intra	ALX1	Q15699	RBM45	Homo sapiens	Q8IUH3-3	Validated Y2H	32296183
Intra	ALX1	Q15699	KRTAP4-4	Homo sapiens	Q9BYR3	Validated Y2H	32296183
Intra	ALX1	Q15699	ZNF300	Homo sapiens	Q96RE9-3	Validated Y2H	32296183
Intra	ALX1	Q15699	UROC1	Homo sapiens	Q96N76	Validated Y2H	32296183
Intra	ALX1	Q15699	OR52L1	Homo sapiens	Q8NGH7	Validated Y2H	32296183
Intra	ALX1	Q15699	KAT5	Homo sapiens	Q92993	Validated Y2H	32296183
Intra	ALX1	Q15699	IPO13	Homo sapiens	O94829	Pull Down	16189514
Intra	ALX1	Q15699	IPO13	Homo sapiens	O94829	Y2H Pooling	16189514

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Frontonasal Dysplasia 3

FND3	Frontonasal Dysplasia - Severe Microphthalmia - Severe Facial Clefting Syndrome
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Alx1-Related Frontonasal Dysplasia
Frontonasal Dysplasia Type 3	Dysplasia, Frontonasal, Type 3

Frontonasal Dysplasia 1

Frontorhiny	Frontonasal Dysplasia
Fnd	Frontonasal Malformation
Fnm	Median Facial Cleft Syndrome
Midline Facial Cleft	FND1
Median Cleft Face Syndrome	Median Cleft Syndrome
Frontonasal Dysplasia Sequence	Median Facial Cleft
Tessier Number 0-14 And 30 Facial Cleft	Alx3-Related Frontonasal Dysplasia
Frontonasal Dysplasia Type 1	Isolated Median Cleft Face Syndrome
Doid:0081044	Doid:0081045
Dysplasia, Frontonasal, Type

Widow'S Peak

Widow'S Peak Syndrome

Widow'S Peak, Ptosis, And Skeletal Anomalies

Facial Cleft

Craniofacial Cleft

Craniofacial Clefts

Combined Oxidative Phosphorylation Deficiency 5

COXPD5	Hypotonia With Lactic Acidemia And Hyperammonemia
Combined Oxidative Phosphorylation Defect Type 5	Combined Oxidative Phosphorylation Deficiency, Type 5

Fraser Syndrome 1

Fraser Syndrome	Cryptophthalmos With Other Malformations
Cryptophthalmos Syndrome	FRASRS1
Cryptophthalmos-Syndactyly Syndrome	Fraser-Francois Syndrome
Cyclopism	Meyer-Schwickerath'S Syndrome
Ulrich-Feichtiger Syndrome	Cryptophthalmos Syndactyly Syndrome
Fraser'S Syndrome	Meyer-Schwickerath Syndrome
Ullrich-Feichtiger Syndrome

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Spastic Paraplegia 76, Autosomal Recessive

SPG76	Autosomal Recessive Spastic Paraplegia Type 76
Hereditary Spastic Paraplegia 76	Autosomal Recessive Spastic Paraplegia 76
Paraplegia, Spastic, Autosomal Recessive, Type 76

Pentosuria

Xylitol Dehydrogenase Deficiency	L-Xylulosuria
L-Xylulose Reductase Deficiency	Essential Pentosuria
PNTSU	Essential Benign Pentosuria

Craniofrontonasal Syndrome

Craniofrontonasal Dysplasia	CFNS
Cfnd	Craniofrontonasal Dysostosis
Craniofrontonasal Dystosis	Dysplasia, Craniofrontonasal

Parietal Foramina

Enlarged Parietal Foramina	Hereditary Cranium Bifidum
Symmetric Parietal Foramina	Catlin Marks
Foramina Parietalia Permagna	Caitlin Marks
Cranium Bifidum	Cranium Bifidum Occultum
Fenestrae Parietals Symmetricae	Fpp
Giant Parietal Foramina	Pfm
Fenestrae Parietales Symmetricae	Foramina, Parietal

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Orofacial Cleft

Cleft, Orofacial

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00636	ALX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	ALX1	RGD	RGD:2273
Mus musculus	ALX1	MGD	MGI:104621
Canis familiaris	ALX1	VGNC	VGNC:37820
Bos taurus	ALX1	VGNC	VGNC:25853
Felis catus	ALX1	VGNC	VGNC:83488

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