GRHL1 - grainyhead like transcription factor 1 Gene

中文名称：grainyhead 样转录因子 1

种属: Homo sapiens

同用名: MGR; NH32; LBP32; TFCP2L2

基因 ID: 29841 | 基因类型: protein coding

关于 GRHL1

Cytogenetic location: 2p25.1 Genomic coordinates (GRCh38): 2:9,951,693-10,002,277 (from NCBI)

This gene has 8 transcripts (splice variants), 234 orthologues and 5 paralogues. Biased expression in esophagus (RPKM 42.3), skin (RPKM 29.2) and 4 other tissues.

功能概要

该基因编码 grainyhead 转录因子家族的成员。编码的蛋白质可以同源二聚体形式存在，也可以与哺乳动物粒头哺乳动物的姐妹或哺乳动物粒头兄弟形成异二聚体。这种蛋白质在发育过程中起着转录因子的作用。[RefSeq 提供，2009 年 6 月]

This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009]

GRHL1 基因产物(1)

mRNA	Protein	Name
NM_198182.3	NP_937825.2	grainyhead-like protein 1 homolog

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	IDA IDA: 通过直接分析推断	12175488	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	12175488	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: 通过突变表型推断	29309642	GOA
enables DNA-binding transcription factor activity	IDA IDA: 通过直接分析推断	12175488	GOA
enables DNA-binding transcription factor binding	IPI IPI: 通过物理相互作用推断	35013237	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	12175488	GOA
enables chromatin DNA binding	IDA IDA: 通过直接分析推断	21081122	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	12175488	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12175488	GOA
enables protein homodimerization activity	IPI IPI: 通过物理相互作用推断	29309642	GOA
enables sequence-specific DNA binding	IDA IDA: 通过直接分析推断	18288204	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: 通过直接分析推断	18288204	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	12175488	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: 通过突变表型推断	29309642	GOA
acts upstream of or within regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	12175488	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	18288204	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

GRHL1 蛋白结构

CP2

0
100
200
300
400
500
618 a.a.

蛋白主名

其他名称

grainyhead-like protein 1 homolog

LBP protein 32

GRHL1 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
种属内	GRHL1	Q9NZI5	GRHL2	Homo sapiens	Q6ISB3	Pull Down	12175488
种属内	GRHL1	Q9NZI5	GRHL2	Homo sapiens	Q6ISB3	Y2H	12175488
种属内	GRHL1	Q9NZI5	GRHL2	Homo sapiens	Q6ISB3	Anti Tag CoIP	35013237
种属内	GRHL1	Q9NZI5	BEND3	Homo sapiens	Q5T5X7	Anti Tag CoIP	35013237
种属内	GRHL1	Q9NZI5	BLM	Homo sapiens	P54132	Anti Tag CoIP	35013237
种属内	GRHL1	Q9NZI5	BAZ1A	Homo sapiens	Q9NRL2	Anti Tag CoIP	35013237
种属内	GRHL1	Q9NZI5	GRHL1	Homo sapiens	Q9NZI5	Y2H	12175488
种属内	GRHL1	Q9NZI5	GRHL1	Homo sapiens	Q9NZI5	Pull Down	12175488
种属内	GRHL1	Q9NZI5	APTX	Homo sapiens	Q7Z2E3	Anti Tag CoIP	35013237
种属内	GRHL1	Q9NZI5	ACTBL2	Homo sapiens	Q562R1	Anti Tag CoIP	35013237
种属内	GRHL1	Q9NZI5	ANKRD17	Homo sapiens	O75179	Anti Tag CoIP	35013237
种属内	GRHL1	Q9NZI5	ADAR	Homo sapiens	P55265	Anti Tag CoIP	35013237
种属内	GRHL1	Q9NZI5	ASH2L	Homo sapiens	Q9UBL3	Anti Tag CoIP	35013237
种属内	GRHL1	Q9NZI5	BANF1	Homo sapiens	O75531	Anti Tag CoIP	35013237
种属内	GRHL1	Q9NZI5	ARID3B	Homo sapiens	Q8IVW6	Anti Tag CoIP	35013237

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

Deafness, Autosomal Dominant 28

DFNA28	Autosomal Dominant Nonsyndromic Deafness 28
Autosomal Dominant Deafness 28	Deafness, Autosomal Dominant, 28
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28
Deafness, Autosomal Dominant, Type 28

Maxillary Cancer

Maxillary Neoplasm	Maxillary Neoplasms
Upper Jaw Bone Cancer

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy	Ppcd
Maumenee Corneal Dystrophy	Posterior Polymorphous Corneal Dystrophy 1
PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior
Corneal Endothelial Dystrophy 1, Autosomal Dominant	Schlichting Dystrophy
Ched1	Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
Ched1, Formerly	Hereditary Polymorphus Posterior Corneal Dystrophy
Posterior Polymorphous Dystrophy	Hereditary Polymorphous Posterior Corneal Dystrophy
Dystrophy, Corneal, Posterior Polymorphous	Dystrophy, Corneal, Posterior Polymorphous, Type 1
Polymorphous Corneal Dystrophy	Corneal Endothelial Dystrophy 2

Jaw Cancer

Jaw Neoplasms	Jaw Neoplasm
Neoplasm Of Jaw	Cancer Of Jaw

Van Der Woude Syndrome

Lip-Pit Syndrome	Vws
Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip	Vdws
Lps	Lip Pit Syndrome
Cleft Lip/Palate With Mucous Cysts Of Lower Lip	Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Cleft Palate, Isolated

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

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-RS05787	GRHL1 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	GRHL1	RGD	RGD:1305735
Mus musculus	GRHL1	MGD	MGI:2182540
Canis familiaris	GRHL1	VGNC	VGNC:41476
Macaca mulatta	GRHL1	VGNC	VGNC:73188
Felis catus	GRHL1	VGNC	VGNC:62709
Bos taurus	GRHL1	VGNC	VGNC:29634

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