CRNKL1 - crooked neck pre-mRNA splicing factor 1 Gene

中文名称：歪颈前体 mRNA 剪接因子 1

种属: Homo sapiens

同用名: CLF; CRN; Clf1; HCRN; SYF3; MSTP021

基因 ID: 51340 | 基因类型: protein coding

关于 CRNKL1

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:20,034,368-20,056,046 (from NCBI)

This gene has 7 transcripts (splice variants), 219 orthologues, 2 paralogues and is associated with 64 phenotypes. Ubiquitous expression in bone marrow (RPKM 8.6), testis (RPKM 8.2) and 25 other tissues.

功能概要

果蝇的歪颈 (crn) 基因对于胚胎发生是必不可少的，并且被认为参与细胞周期进程和 pre-mRNA 剪接。已发现由该人类基因座编码的蛋白质定位于细胞核中的前体 mRNA 剪接复合物，并且是前体 mRNA 剪接所必需的。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2013 年 7 月]

The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013]

CRNKL1 基因产物(5)

mRNA	Protein	Name
NM_001278625.2	NP_001265554.1	crooked neck-like protein 1 isoform b
NM_001278626.2	NP_001265555.1	crooked neck-like protein 1 isoform c
NM_001278627.2	NP_001265556.1	crooked neck-like protein 1 isoform c
NM_001278628.2	NP_001265557.1	crooked neck-like protein 1 isoform d
NM_016652.6	NP_057736.4	crooked neck-like protein 1 isoform a

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 RNA binding	IDA IDA: 通过直接分析推断	12084575	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	22365833	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mRNA splicing, via spliceosome	IDA IDA: 通过直接分析推断	28076346	GOA
involved in spliceosomal complex assembly	IDA IDA: 通过直接分析推断	12084575	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of U2-type catalytic step 2 spliceosome	IDA IDA: 通过直接分析推断	28076346	GOA
part of catalytic step 2 spliceosome	IDA IDA: 通过直接分析推断	11991638	GOA
located in nucleus	IDA IDA: 通过直接分析推断	28076346	GOA
part of spliceosomal complex	IDA IDA: 通过直接分析推断	11991638	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

CRNKL1 蛋白结构

HAT

0
200
400
600
800
848 a.a.

蛋白主名

其他名称

crooked neck-like protein 1

Crn, crooked neck-like 1

CRNKL1 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	CRNKL1	Q9BZJ0	CCDC12	Homo sapiens	Q8WUD4	Anti Tag CoIP	22365833

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

Skin Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Skin	Epidermoid Skin Carcinoma
Squamous Cell Carcinoma Of The Skin	Squamous Cell Epithelioma Of Skin
Cutaneous Squamous Cell Carcinoma	Scc - [Squamous Cell Carcinoma] Of Skin

Skin Melanoma

Cutaneous Melanoma	Malignant Ear Melanoma
Malignant Lip Melanoma	Malignant Lower Limb Melanoma
Malignant Melanoma Of Ear And/Or External Auricular Canal	Malignant Melanoma Of Skin Of Lower Limb
Malignant Melanoma Of Skin Of Trunk Except Scrotum	Malignant Melanoma Of Skin Of Upper Limb
Malignant Neck Melanoma	Malignant Scalp Melanoma
Malignant Trunk Melanoma	Malignant Upper Limb Melanoma
Melanoma, Cutaneous Malignant	Melanoma
Malignant Melanoma Of Skin	Melanoma Nos
Malignant Mole, Meaning Melanoma Of Unspecified Site	Melanoma Of Unspecified Site
Cutaneous Malignant Melanoma	Mm - [Malignant Melanoma]

Fanconi Anemia, Complementation Group G

Fanconi Anemia Complementation Group G

FANCG

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-RS03191	CRNKL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	CRNKL1	RGD	RGD:620507
Felis catus	CRNKL1	VGNC	VGNC:61187
Macaca mulatta	CRNKL1	VGNC	VGNC:71412
Mus musculus	CRNKL1	MGD	MGI:1914127
Bos taurus	CRNKL1	VGNC	VGNC:27721
Canis familiaris	CRNKL1	VGNC	VGNC:39625

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