CRIPT - CXXC repeat containing interactor of PDZ3 domain Gene

中文名称：含 CXXC 重复序列的 PDZ3 结构域相互作用子

种属: Homo sapiens

同用名: SSMDF; HSPC139

基因 ID: 9419 | 基因类型: protein coding

关于 CRIPT

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:46,617,215-46,630,176 (from NCBI)

This gene has 2 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 3.3), adrenal (RPKM 2.2) and 25 other tissues.

功能概要

该基因编码一种与 PDZ3 肽识别域结合的蛋白质。编码的蛋白质可以调节蛋白质与细胞骨架的相互作用。该基因的突变导致身材矮小、小头畸形和独特的面容。[RefSeq 提供，2014 年 6 月]

This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the Cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]

CRIPT 基因产物(1)

mRNA	Protein	Name
NM_014171.6	NP_054890.1	cysteine-rich PDZ-binding protein

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables PDZ domain binding	IDA IDA: 通过直接分析推断	17474715	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11937501	GOA
enables scaffold protein binding	IDA IDA: 通过直接分析推断	17474715	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

CRIPT 蛋白结构

Cript

0
101 a.a.

蛋白主名

其他名称

cysteine-rich PDZ-binding protein

cysteine-rich interactor of PDZ three

CRIPT 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	CRIPT	Q9P021	WFS1	Homo sapiens	O76024	Y2H Array	32814053
种属内	CRIPT	Q9P021	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
种属内	CRIPT	Q9P021	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
种属内	CRIPT	Q9P021	DLG4	Homo sapiens	P78352	ELISA	11937501
种属内	CRIPT	Q9P021	DLG4	Homo sapiens	P78352	FPS	11937501
种属间	CRIPT	Q9P021	Dlg3	Rattus norvegicus	Q62936	ELISA	11937501
种属间	CRIPT	Q9P021	Dlg3	Rattus norvegicus	Q62936	FPS	11937501
种属间	CRIPT	Q9P021	Dlg4	Rattus norvegicus	P31016	FPS	11937501

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CRIPT 蛋白

目录号	产品名	蛋白编号	纯度
HY-P75331	CRIPT Protein, Human (His)	Q9P021 (M1-V101)	≥95%

关联疾病

疾病名称

别名

Short Stature With Microcephaly And Distinctive Facies

SSMCF

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Telecanthus

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Loiasis

Loa Loa Filariasis	Mansonelliasis
African Eye Worm	Mansonella Perstans Infections
Mansonellosis	Eye Worm Disease Of Africa
Loa Loa Infestation	African Eyeworm Disease
Calabar Swelling

Three M Syndrome 1

3-M Syndrome	Yakut Short Stature Syndrome
3m Syndrome	Le Merrer Syndrome
Dolichospondylic Dysplasia	Gloomy Face Syndrome
Three M Syndrome	3M1
3m Syndrome 1	Miller-Mckusick-Malvaux Syndrome
3-Msbn	Three-M Slender-Boned Nanism
Miller-Mckusick-Malvaux-Syndrome	3-M Syndrome 1
3m Syndrome-1	3m Syndrome, Type 1
Dwarfism	Dwarfism Tall Vertebrae

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-RS03178	CRIPT Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	CRIPT	VGNC	VGNC:27712
Felis catus	CRIPT	VGNC	VGNC:61181
Macaca mulatta	CRIPT	VGNC	VGNC:71405
Rattus norvegicus	CRIPT	RGD	RGD:621545
Canis familiaris	CRIPT	VGNC	VGNC:39615
Mus musculus	CRIPT	MGD	MGI:1929655
Macaca fascicularis	CRIPT	NCBI	NCBI:107126364
Leporidae	CRIPT	NCBI
Others	CRIPT	NCBI

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