1. Gene
  2. CWF19L1 - CWF19 like cell cycle control factor 1 Gene

CWF19L1 - CWF19 like cell cycle control factor 1 Gene

中文名称:CWF19 样细胞周期控制因子 1

种属: Homo sapiens

同用名: C19L1; hDrn1; SCAR17

基因 ID: 55280 | 基因类型: protein coding

关于 CWF19L1

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:100,232,298-100,267,638 (from NCBI)

This gene has 8 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 8.4), testis (RPKM 8.0) and 25 other tissues.

功能概要

该基因编码 CWF19 蛋白家族的一个成员。该基因的突变与常染色体隐性遗传性脊髓小脑性共济失调 17 和轻度认知障碍有关。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 12 月]

This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

CWF19L1 基因产物(5)

mRNA Protein Name
NM_001303404.2 NP_001290333.1 CWF19-like protein 1 isoform 2
NM_001303405.2 NP_001290334.1 CWF19-like protein 1 isoform 3
NM_001303406.2 NP_001290335.1 CWF19-like protein 1 isoform 3
NM_001303407.2 NP_001290336.1 CWF19-like protein 1 isoform 4
NM_018294.6 NP_060764.3 CWF19-like protein 1 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

CWF19L1 蛋白结构

CwfJ_C_1

CwfJ_C_1: Protein similar to CwfJ C-terminus 1 (320 - 428)

CwfJ_C_2

CwfJ_C_2: Protein similar to CwfJ C-terminus 2 (450 - 535)

  • 0
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  • 200
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  • 500
  • 538 a.a.
蛋白主名 其他名称

CWF19-like protein 1

CWF19 like 1, cell cycle control

关联疾病

疾病名称 别名
Spinocerebellar Ataxia, Autosomal Recessive 17

Autosomal Recessive Spinocerebellar Ataxia 17

SCAR17

Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 17

Spinocerebellar Ataxia, Autosomal Recessive, 17

Ataxia, Spinocerebellar, Autosomal Recessive, Type 17

Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities

CECBA

Cerebellar Ataxia, Nonprogressive, With Mental Retardation

Canpmr

Nonprogressive Cerebellar Ataxia With Mental Retardation

Non-Progressive Cerebellar Ataxia With Intellectual Disability

Ataxia, Cerebellar, Nonprogressive, With Mental Retardation

Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Type 17

SCA17

Huntington Disease-Like 4

Hdl4

Olivopontocerebellar Atrophy V

Cerebelloparenchymal Disorder Ii

Opca5

Cpd2

Sca 17

Ataxia, Spinocerebellar, Type 17

Donnai-Barrow Syndrome

Faciooculoacousticorenal Syndrome

Dbs/Foar Syndrome

Foar Syndrome

Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

Facio-Oculo-Acoustico-Renal Syndrome

Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria

Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome

Holmes-Schepens Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness

DBS

Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria

Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis

Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome

Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss

Donnai Barrow Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

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
Bos taurus CWF19L1 VGNC VGNC:57313
Mus musculus CWF19L1 MGD MGI:1919752
Canis familiaris CWF19L1 VGNC VGNC:56111
Felis catus CWF19L1 VGNC VGNC:61294
Rattus norvegicus CWF19L1 RGD RGD:1304716
Macaca mulatta CWF19L1 VGNC VGNC:103804