1. Gene
  2. ACVR1B - activin A receptor type 1B Gene

ACVR1B - activin A receptor type 1B Gene

中文名称:激活素 A 受体 1B 型

种属: Homo sapiens

同用名: ALK4; SKR2; ACTRIB; ACVRLK4

基因 ID: 91 | 基因类型: protein coding

关于 ACVR1B

Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:51,951,699-51,997,078 (from NCBI)

This gene has 7 transcripts (splice variants), 271 orthologues and 11 paralogues. Ubiquitous expression in kidney (RPKM 15.7), colon (RPKM 11.9) and 25 other tissues.

功能概要

该基因编码激活素 A 型 IB 受体。激活素是二聚体生长和分化因子,属于结构相关信号转导蛋白的转化生长因子-β (TGF-β) 超家族。激活素通过受体丝氨酸激酶的异聚复合体发出信号,其中至少包括两种 I 型和两种 II 型受体。这种蛋白质是一种 I 型受体,对信号传导至关重要。该基因的突变与垂体瘤有关。交替剪接导致多个转录变体。[RefSeq 提供,2010 年 6 月]

This gene encodes an Activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

ACVR1B 基因产物(9)

mRNA Protein Name
NM_004302.5 NP_004293.1 activin receptor type-1B isoform a precursor
NM_020328.4 NP_064733.3 activin receptor type-1B isoform c precursor
XM_047429857.1 XP_047285813.1 activin receptor type-1B isoform X1
XM_011538966.4 XP_011537268.1 activin receptor type-1B isoform X2
XM_047429858.1 XP_047285814.1 activin receptor type-1B isoform X1
XM_011538967.4 XP_011537269.1 activin receptor type-1B isoform X4
NM_020327.4 NP_064732.3 activin receptor type-1B isoform b
XM_017020201.3 XP_016875690.1 activin receptor type-1B isoform X3
XM_047429856.1 XP_047285812.1 activin receptor type-1B isoform X1

ACVR1B 蛋白结构

Activin_recp

Activin_recp: Activin types I and II receptor domain (33 - 104)

TGF_beta_GS

TGF_beta_GS: Transforming growth factor beta type I GS-motif (177 - 205)

Pkinase

Pkinase: Protein kinase domain (209 - 492)

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  • 505 a.a.
蛋白主名 其他名称

activin receptor type-1B

activin A receptor, type IB

activin A receptor, type II-like kinase 4

activin receptor-like kinase 4

serine/threonine-protein kinase receptor R2

重组 ACVR1B 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7485 Activin RIB/ALK-4 Protein, Human (HEK293, His) P36896 (S24-E126) ≥95%
HY-P75571 Activin RIB/ALK-4 Protein, Human (HEK293, Fc) P36896 (S24-E126) ≥95%
HY-P75572 Activin RIB/ALK-4 Protein, Human (HEK293, His-Fc) P36896 (S24-E126) ≥95%

关联疾病

疾病名称 别名
Pancreatic Cancer

Pancreatic Carcinoma

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Carcinoma Of Pancreas

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Cancer Of The Pancreas

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Ichthyosis, Congenital, Autosomal Recessive 3

Autosomal Recessive Congenital Ichthyosis 3

ARCI3

Lamellar Ichthyosis 5

Collodion Baby, Self-Healing

Ichthyosis, Lamellar, 5, Formerly

Li5, Formerly

Li5

Self-Healing Collodion Baby

Ichthyosis, Congenital, Autosomal Recessive, Type 3

Transposition Of The Great Arteries, Dextro-Looped

Transposition Of The Great Arteries

DTGA1

Dextro-Looped Transposition Of The Great Arteries

DTGA

Congenitally Uncorrected Transposition Of The Great Arteries

Congenitally Uncorrected Transposition Of The Great Vessels

D-Tga

Isolated Ventriculoarterial Discordance

Ventriculoarterial Discordance With Atrioventricular Concordance

Great Vessels Transposition

Dextro-Looped Transposition Of The Great Arteries 1

Transposition Of The Great Arteries, Dextro-Looped 1

Arteries, Great, Transposition, Dextro-Looped

Ventriculoarterial Discordance, Isolated

D-Transposition Of The Great Arteries

Dextro-Transposition Of The Great Arteries

Complete Transposition

Tga

Tgv

Transposition Of The Great Vessels

Transposition Of Great Vessels

Transposition Of The Great Arteries Dextro-Looped 1

Discordant Ventriculoarterial Connection

Complete Transposition Of Great Vessels

Great Vessels Complete Transposition

Total Great Vessel Transposition

Transposition Of Great Arteries

Complete Tga - [Transposition Of The Great Arteries]

Tga - [Transposition Of Great Arteries]

Tgv - [Transposition Of Great Vessels]

Transposition Of Great Vessels Nos

Transposed Vessels Nos

Hereditary Hemorrhagic Telangiectasia

Rendu-Osler-Weber Disease

Hht

Osler-Weber-Rendu Disease

Telangiectasia, Hereditary Hemorrhagic

Osler Hemorrhagic Telangiectasia Syndrome

Orw Disease

Osler Weber Rendu Syndrome

Osler-Rendu-Weber Disease

Osler-Weber-Rendu Syndrome

Rendu-Osler Disease

Telangiectasia Hereditary Hemorrhagic

Telangiectasia Hemorrhagic, Hereditary

Hht - [Hereditary Haemorrhagic Telangiectasia]

Osler Haemorrhagic Telangiectasia Syndrome

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

Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma

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
Rattus norvegicus ACVR1B RGD RGD:735207
Felis catus ACVR1B VGNC VGNC:59563
Macaca mulatta ACVR1B VGNC VGNC:69446
Mus musculus ACVR1B MGD MGI:1338944
Canis familiaris ACVR1B VGNC VGNC:37562
Bos taurus ACVR1B VGNC VGNC:25593
Others ACVR1B NCBI