2. Gene
  3. ERC1 - ELKS/RAB6-interacting/CAST family member 1 Gene

ERC1 - ELKS/RAB6-interacting/CAST family member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：ELKS/RAB6-interacting/CAST 家族成员 1

种属: Homo sapiens

同用名: ELKS; Cast2; ERC-1; RAB6IP2

基因 ID: 23085 | 基因类型: protein coding

关于 ERC1

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:989,959-1,495,933 (from NCBI)

This gene has 33 transcripts (splice variants), 275 orthologues, 1 paralogue and is associated with 82 phenotypes. Ubiquitous expression in thyroid (RPKM 7.0), esophagus (RPKM 6.1) and 25 other tissues.

功能概要

由该基因编码的蛋白质是 RIM 结合蛋白家族的成员。 RIM 是调节神经递质释放的活性区蛋白。由于甲状腺乳头状癌中的易位 t (10;12) (q11;p13) ，已发现该基因通过基因重排与受体型酪氨酸激酶基因 RET 融合。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 7 月]

The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ERC1 基因产物(3)

mRNA Protein Name
NM_001301248.1 NP_001288177.1 ELKS/Rab6-interacting/CAST family member 1 isoform zeta
NM_178039.4 NP_829883.1 ELKS/Rab6-interacting/CAST family member 1 isoform delta
NM_178040.4 NP_829884.1 ELKS/Rab6-interacting/CAST family member 1 isoform epsilon
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 protein binding IPI
IPI: 通过物理相互作用推断
12391317 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in I-kappaB phosphorylation IDA
IDA: 通过直接分析推断
15218148 GOA
involved in positive regulation of NF-kappaB transcription factor activity IDA
IDA: 通过直接分析推断
15218148 GOA
involved in regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
15218148 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of IkappaB kinase complex IDA
IDA: 通过直接分析推断
15218148 GOA
located in centrosome IDA
IDA: 通过直接分析推断
27224062 GOA
located in ciliary basal body IDA
IDA: 通过直接分析推断
27224062 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
15218148 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

ERC1 蛋白结构

Cast

Cast: RIM-binding protein of the cytomatrix active zone (154 - 982)

RBD-FIP

RBD-FIP: FIP domain (1068 - 1108)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1116 a.a.
蛋白主名 其他名称

ELKS/Rab6-interacting/CAST family member 1

RAB6 interacting protein 2

关联疾病

疾病名称 别名
Differentiated Thyroid Carcinoma

Papillary Or Follicular Thyroid Carcinoma

Well-Differentiated Thyroid Carcinoma

Differentiated Thyroid Gland Carcinoma
Distal Monosomy 12p

12p13.33 Microdeletion Syndrome

Del(12)(P13.33)

Distal Deletion 12p
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation

MDFPMR

Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lambert-Eaton Myasthenic Syndrome

Lambert-Eaton Syndrome

Eaton-Lambert Syndrome

Lems

Lambert Eaton Myasthenic Syndrome

Eaton Lambert Syndrome

Lambert Eaton Syndrome

Myasthenic Syndrome Of Lambert-Eaton

Myasthenic-Myopathic Syndrome Of Lambert-Eaton

Lems - [Lambert-Eaton Myasthenic Syndrome]
Atrophy Of Prostate
Cone-Rod Dystrophy 7

CORD7

Dystrophy, Cone-Rod, Type 7

Retinitis Pigmentosa 7
Salpingo-Oophoritis

Tubo-Ovarian Inflammatory Disease

Salpingitis/Oophoritis

Suppurative Salpingo Oophoritis

Tubo-Ovarian Inflammation

Tubo-Ovarian Inflammatory Disorder

Purulent Salpingo Oophoritis

Septic Salpingo Oophoritis

Salpingo-Ovaritis

Inflammation Oviduct

Ruptured Salpingo Oophoritis

Pyosalpinx Rupture
Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a
Specific Language Impairment

Language Impairment, Specific
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04476 ERC1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ERC1 VGNC VGNC:61928
Canis familiaris ERC1 VGNC VGNC:40439
Macaca mulatta ERC1 VGNC VGNC:99926
Mus musculus ERC1 MGD MGI:2151013
Bos taurus ERC1 VGNC VGNC:28566
Rattus norvegicus ERC1 RGD RGD:628733
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