ACVR1B - activin A receptor type 1B Gene

Also Known as ALK4; SKR2; ACTRIB; ACVRLK4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 91

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables ATP binding	IDA IDA: Inferred from direct assay	12065756	GOA
enables I-SMAD binding	IPI IPI: Inferred from physical interaction	16720724	GOA
enables SMAD binding	IDA IDA: Inferred from direct assay	12065756	GOA
contributes to activin binding	IDA IDA: Inferred from direct assay	12665502	GOA
contributes to activin receptor activity	IDA IDA: Inferred from direct assay	12665502	GOA
enables activin receptor activity	IDA IDA: Inferred from direct assay	12065756	GOA
enables activin receptor activity, type I	IDA IDA: Inferred from direct assay	9892009	GOA
contributes to growth factor binding	IPI IPI: Inferred from physical interaction	14517293	GOA
enables inhibin binding	IPI IPI: Inferred from physical interaction	7890768	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8622651	GOA
enables protein serine/threonine kinase activity	EXP EXP: Inferred from Experiment	11389842	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	12065756	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	16720724	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in G1/S transition of mitotic cell cycle	IDA IDA: Inferred from direct assay	11117535	GOA
involved in activin receptor signaling pathway	IDA IDA: Inferred from direct assay	9892009	GOA
involved in activin receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	9884026	GOA
involved in extrinsic apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	9884026	GOA
involved in negative regulation of cell growth	IDA IDA: Inferred from direct assay	11117535	GOA
involved in nodal signaling pathway	IGI IGI: Inferred from genetic interaction	11389842	GOA
involved in peptidyl-threonine phosphorylation	IDA IDA: Inferred from direct assay	18039968	GOA
involved in positive regulation of activin receptor signaling pathway	IDA IDA: Inferred from direct assay	16720724	GOA
involved in positive regulation of erythrocyte differentiation	IDA IDA: Inferred from direct assay	9032295	GOA
involved in positive regulation of trophoblast cell migration	IDA IDA: Inferred from direct assay	21356369	GOA
involved in protein autophosphorylation	IDA IDA: Inferred from direct assay	18039968	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	8622651	GOA
involved in signal transduction	IDA IDA: Inferred from direct assay	8622651	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of activin receptor complex	IDA IDA: Inferred from direct assay	12665502	GOA
located in cell surface	IDA IDA: Inferred from direct assay	12665502	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	9032295	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	14517293	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACVR1B Protein Structure

Activin_recp

TGF_beta_GS

Pkinase

0
100
200
300
400
505 a.a.

Protein Preferred Names	Protein Names
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

ACVR1B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ACVR1B	P36896	FKBP1A	Homo sapiens	P62942	Y2H	16720724
Intra	ACVR1B	P36896	HSP90AB1	Homo sapiens	P08238	Anti Tag CoIP	22939624
Intra	ACVR1B	P36896	HSP90AB1	Homo sapiens	P08238	Lumier	22939624
Intra	ACVR1B	P36896	SMAD7	Homo sapiens	O15105	Anti Tag CoIP	16720724
Cross	ACVR1B	P36896	Acvr2b	Mus musculus	P27040	Anti Tag CoIP	14966532

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ACVR1B Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P7485	Activin RIB/ALK-4 Protein, Human (HEK293, His)	P36896 (S24-E126)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P75571	Activin RIB/ALK-4 Protein, Human (HEK293, Fc)	P36896 (S24-E126)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P75572	Activin RIB/ALK-4 Protein, Human (HEK293, His-Fc)	P36896 (S24-E126)	≥ 80%, as determined by reducing SDS-PAGE.

ACVR1B Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82244	Activin A Receptor Type IB Antibody (YA1989)	WB, FC	Human, Mouse, Rat
HY-P82244A	Activin A Receptor Type IB Antibody (YA1989)(PBS only)	WB, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00239	ACVR1B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00240	Acvr1b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS00241	Acvr1b Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174785	Human ACVR1B mRNA		/	Unkown

Orthologs Information

Species	Symbol	Source	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