2. Gene
  3. ACVR1C - activin A receptor type 1C Gene

ACVR1C - activin A receptor type 1C Gene

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

中文名称：1C 型激活素 A 受体

种属: Homo sapiens

同用名: ALK7; ACVRLK7

基因 ID: 130399 | 基因类型: protein coding

关于 ACVR1C

Cytogenetic location: 2q24.1 Genomic coordinates (GRCh38): 2:157,526,767-157,628,864 (from NCBI)

This gene has 4 transcripts (splice variants), 215 orthologues and 11 paralogues. Biased expression in fat (RPKM 19.0), colon (RPKM 1.8) and 6 other tissues.

功能概要

ACVR1C 是 TGFB (参见 MIM 190180) 信号分子家族的 I 型受体。在配体结合后，I 型受体磷酸化细胞质 SMAD 转录因子，然后转移到细胞核并直接与 DNA 相互作用或与其他转录因子形成复合物 (Bondestam 等人，2001 [PubMed 12063393]) 。[OMIM 提供，Mar 2008]

ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]

ACVR1C 基因产物(4)

mRNA Protein Name
NM_001111031.2 NP_001104501.1 activin receptor type-1C isoform 2
NM_001111032.2 NP_001104502.1 activin receptor type-1C isoform 3 precursor
NM_001111033.2 NP_001104503.1 activin receptor type-1C isoform 4 precursor
NM_145259.3 NP_660302.2 activin receptor type-1C isoform 1 precursor
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 activin receptor activity, type I IDA
IDA: 通过直接分析推断
12063393 GOA
enables growth factor binding IPI
IPI: 通过物理相互作用推断
21805089 GOA
enables nodal binding IMP
IMP: 通过突变表型推断
21356369 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in apoptotic nuclear changes IDA
IDA: 通过直接分析推断
15531507 GOA
involved in cell differentiation IDA
IDA: 通过直接分析推断
15531507 GOA
involved in negative regulation of chorionic trophoblast cell proliferation IMP
IMP: 通过突变表型推断
15150278 GOA
involved in negative regulation of trophoblast cell migration IDA
IDA: 通过直接分析推断
21356369 GOA
involved in nodal signaling pathway IMP
IMP: 通过突变表型推断
15150278 GOA
acts upstream of or within positive regulation of apoptotic process IDA
IDA: 通过直接分析推断
15150278 GOA
involved in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
IMP: 通过突变表型推断
15150278 GOA
acts upstream of or within trophectodermal cell proliferation IDA
IDA: 通过直接分析推断
15150278 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of activin receptor complex IDA
IDA: 通过直接分析推断
15531507 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

ACVR1C 蛋白结构

Activin_recp

Activin_recp: Activin types I and II receptor domain (26 - 96)

TGF_beta_GS

TGF_beta_GS: Transforming growth factor beta type I GS-motif (165 - 193)

Pkinase

Pkinase: Protein kinase domain (197 - 480)

  • 0
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  • 200
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  • 400
  • 493 a.a.
蛋白主名 其他名称

activin receptor type-1C

ACTR-IC

ALK-7

activin A receptor, type IC

activin receptor type IC

activin receptor-like kinase 7

重组 ACVR1C 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74417 ALK-7 Protein, Human (HEK293, Fc) Q8NER5 (L22-E113) ≥95%

关联疾病

疾病名称 别名
Fibrodysplasia Ossificans Progressiva

Myositis Ossificans Progressiva

Progressive Myositis Ossificans

FOP

Progressive Ossifying Myositis

Myositis Ossificans

Stone Man Syndrome

Man Of Stone

Myositis Ossificans Progressive

Diffuse Progressive Ossifying Polymyositis

Fibrodysplasia Ossificans Congenita

Myositis Ossificans Progressiva, Site Unspecified

Münchmeyer Disease

Fop - [Fibrodysplasia Ossificans Progressiva]

Progressive Myositis Ossificans Calcification
Acquired Hyperkeratosis

Acquired Keratoderma

Keratoderma - Acquired

Keratoderma, Acquired

Keratosis Blennorrhagica
Extraocular Retinoblastoma

Pediatric Extraocular Retinoblastoma
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00242 ACVR1C Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS00243 Acvr1c Mouse Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS00244 Acvr1c Rat 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 ACVR1C RGD RGD:621789
Canis familiaris ACVR1C VGNC VGNC:37563
Macaca mulatta ACVR1C VGNC VGNC:69457
Felis catus ACVR1C VGNC VGNC:59564
Mus musculus ACVR1C MGD MGI:2661081
Bos taurus ACVR1C VGNC VGNC:25594
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