LTBP4 - latent transforming growth factor beta binding protein 4 Gene

Also Known as ARCL1C; LTBP-4; LTBP4L; LTBP4S

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8425

About LTBP4

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:40,593,166-40,629,820 (from NCBI)

This gene has 39 transcripts (splice variants), 194 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in prostate (RPKM 61.4), endometrium (RPKM 53.8) and 22 other tissues.

Summary

The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and Other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

LTBP4 Products (3)

mRNA	Protein	Name
NM_001042544.1	NP_001036009.1	latent-transforming growth factor beta-binding protein 4 isoform a precursor
NM_001042545.2	NP_001036010.1	latent-transforming growth factor beta-binding protein 4 isoform c precursor
NM_003573.2	NP_003564.2	latent-transforming growth factor beta-binding protein 4 isoform b

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12429738	GOA
enables transforming growth factor beta binding	IDA IDA: Inferred from direct assay	9660815	GOA
enables transforming growth factor beta binding	IPI IPI: Inferred from physical interaction	10930463	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	16157329	GOA
located in extracellular matrix	IDA IDA: Inferred from direct assay	9660815	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

LTBP4 Protein Structure

EGF_CA

0
300
600
900
1200
1500
1623 a.a.

Protein Preferred Names	Protein Names
latent-transforming growth factor beta-binding protein 4	latent transforming growth factor-beta binding protein 4L

LTBP4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LTBP4	Q8N2S1	ATXN7	Homo sapiens	O15265	Pull Down	21078624
Intra	LTBP4	Q8N2S1	CACNA1A	Homo sapiens	O00555	Y2H	21078624

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant LTBP4 Proteins

Cat. No.	상품명	Accession	Purity
HY-P79307	Latent TGF-beta bp4 Protein, Human (HEK293, His)	Q8N2S1-1 (M1-A1624)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Cutis Laxa, Autosomal Recessive, Type Ic	Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities ARCL1C Urban-Rifkin-Davis Syndrome Cutis Laxa With Severe Pulmonary, Gastrointestinal And Urinary Anomalies URDS Autosomal Recessive Cutis Laxa Type Ic Autosomal Recessive Cutis Laxa Type 1c Cutis Laxa With Severe Pulmonary Gastrointestinal And Urinary Abnormalities
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Muscular Dystrophy, Duchenne Type	Duchenne Muscular Dystrophy DMD Muscular Dystrophy, Duchenne Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Severe Dystrophinopathy, Duchenne Type Muscular Dystrophy Duchenne Dystrophy, Muscular, Duchenne Type Benign Duchenne Muscular Dystrophy Duchenne Motor Neuron Disease Duchenne Type Dystrophy Duchenne-Griesinger Disease
Autosomal Recessive Cutis Laxa Type I	Autosomal Recessive Cutis Laxa Type 1 Cutis Laxa, Type 1 Cutis Laxa, Autosomal Recessive, Type I Cutis Laxa, Autosomal Recessive Type 1 Cutis Laxa, Autosomal Recessive Arcl1 Autosomal Recessive Cutis Laxa With Severe Systemic Involvement Autosomal Recessive Cutis Laxa, Pulmonary Emphysema Type
Cutis Laxa, Autosomal Recessive, Type Ia	ARCL1A Cutis Laxa, Autosomal Recessive Autosomal Recessive Cutis Laxa Type Ia Cutis Laxa, Autosomal Recessive, Type 1a Arcl1 Cutis Laxa, Autosomal Recessive, 1a Cl Type I Cutis Laxa Autosomal Recessive Type I Cutis Laxa Autosomal Recessive Type Ia Cutis Laxa, Autosomal Recessive, Type I
Scoliosis
Cutis Laxa, Autosomal Recessive, Type Ib	ARCL1B Cutis Laxa, Autosomal Recessive, Type 1b Autosomal Recessive Cutis Laxa Type Ib Lethal Arteriopathy Syndrome Due To Fibulin-4 Deficiency Cutis Laxa, Autosomal Recessive, 1b Cutis Laxa Autosomal Recessive Type Ib
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Cutis Laxa, Autosomal Recessive, Type Iiib	ARCL3B De Barsy Syndrome B Pycr1-Related De Barsy Syndrome Autosomal Recessive Cutis Laxa Type Iiib Pycr1 Deficiency Pyrroline-5-Carboxylate Reductase 1 Deficiency Cutis Laxa, Autosomal Recessive, 3b Cutis Laxa Autosomal Recessive Type Iiib Cutis Laxa, Autosomal Recessive, Type 3b
Cutis Laxa, Autosomal Recessive, Type Iiia	ARCL3A De Barsy Syndrome A Aldh18a1-Related De Barsy Syndrome Progeroid Syndrome Of De Barsy Autosomal Recessive Cutis Laxa Type Iiia P5cs Deficiency De Barsy Syndrome Cutis Laxa, Corneal Clouding, And Mental Retardation Delta-1-Pyrroline 5-Carboxylate Synthetase Deficiency Neurocutaneous Syndrome, Bicknell Type Cutis Laxa Corneal Clouding Mental Retardation Progeroid Syndrome De Barsy Type Cutis Laxa, Autosomal Recessive, 3a Cutis Laxa Autosomal Recessive Type Iiia Developmental Delay-Choreoathetosis-Joint Dislocation-Lax Skin Neurocutaneous Syndrome Bicknell Type Corneal Clouding Cutis Laxa Mental Retardation
Autosomal Recessive Cutis Laxa Type Iii	De Barsy Syndrome Cutis Laxa-Corneal Clouding-Intellectual Disability Syndrome Progeroid Syndrome, De Barsy Type Corneal Clouding, Cutis Laxa And Intellectual Disability Cutis Laxa Growth Deficiency Syndrome Progeroid Syndrome Of De Barsy
Cutis Laxa, Autosomal Recessive, Type Iib	ARCL2B Cutis Laxa With Progeroid Features Autosomal Recessive Cutis Laxa Type 2b Autosomal Recessive Cutis Laxa Type Iib Arcl2, Progeroid Type Cutis Laxa, Autosomal Recessive Type 2b Autosomal Recessive Cutis Laxa Type 2, Progeroid Type Cutis Laxa, Autosomal Recessive, 2b Cl Type Iib Cutis Laxa Autosomal Recessive Type Iib Cutis Laxa, Autosomal Recessive, Type 2b
Cutis Laxa, Autosomal Recessive, Type Iia	ARCL2A Cutis Laxa With Joint Laxity And Retarded Development Cutis Laxa With Growth And Developmental Delay Cutis Laxa, Debre Type Cutis Laxa With Bone Dystrophy Arcl2 Cutis Laxa With Congenital Disorder Of Glycosylation Autosomal Recessive Cutis Laxa Type Iia Cutis Laxa, Autosomal Recessive Type 2a Cutis Laxa, Autosomal Recessive, 2a Cl Type Iia Cutis Laxa Autosomal Recessive Type Iia
Bladder Diverticulum	Diverticulum Of Bladder Diverticulum - Bladder Bladder Diverticula Vesical Diverticulum Bladder Sacculation
Autosomal Recessive Cutis Laxa Type Ii Classic Type	Arcl2, Classic Type Arcl2, Debre Type Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Cutis Laxa Type 2, Debre Type
Dental Anomalies And Short Stature	Brachyolmia-Amelogenesis Imperfecta Syndrome Platyspondyly With Amelogenesis Imperfecta DASS Verloes Bourguignon Syndrome Verloes-Bourguignon Syndrome Vbs Sthag6 Tooth Agenesis, Selective, 6 Tooth Agenesis, Selective, 6, Formerly Sthag6, Formerly Selective Tooth Agenesis 5 Amelogenesis Imperfecta And Platyspondyly Skeletal Dysplasia With Amelogenesis Imperfecta And Platyspondyly Platyspondyly-Amelogenesis Imperfecta Syndrome
Aortic Aneurysm	Aortic Rupture Thoracoabdominal Aortic Aneurysm, Ruptured Ruptured Aortic Aneurysm Aortic Aneurysms Aortic Aneurysm Without Mention Of Rupture Nos Ruptured Abdominal Aortic Aneurysm Aortic Aneurysm, Ruptured Ruptured Thoracic Aortic Aneurysm
Geroderma Osteodysplasticum	Gerodermia Osteodysplastica Geroderma Osteodysplastica GO Walt Disney Dwarfism Type Of Gerodermia Osteodysplastica
Arterial Tortuosity Syndrome	Arterial Tortuosity Ats ATORS Tortuosity, Arterial, Syndrome
Stiff Skin Syndrome	SSKS Stiff Skin
Occipital Horn Syndrome	OHS Eds Ix Cutis Laxa X-Linked Cutis Laxa, X-Linked Cutis Laxa, X-Linked, Formerly Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly Eds Ix, Formerly Eds9, Formerly Ehlers-Danlos Syndrome Type 9 Ehlers-Danlos Syndrome Type Ix X-Linked Cutis Laxa Ehlers-Danlos Syndrome, Occipital Horn Type Eds9 Ehlers-Danlos Syndrome Occipital Horn Type
Tracheomalacia	Congenital Tracheomalacia Congenital Major Airway Collapse Tracheomalacia, Congenital Type 1 Tracheomalacia
Contractural Arachnodactyly, Congenital	Congenital Contractural Arachnodactyly Beals Syndrome CCA Beals-Hecht Syndrome Distal Arthrogryposis Type 9 Arthrogryposis, Distal, Type 9 Da9 Arachnodactyly, Contractural Beals Type Contractures, Multiple With Arachnodactyly Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis Arthrogyroposis, Distal, Type 9 Distal Arthrogyropsis Type 9 Cca Syndrome Arachnodactyly
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
Supravalvular Aortic Stenosis	SVAS Supravalvar Aortic Stenosis Supravalvar Aortic Stenosis, Eisenberg Type Aortic Supravalvular Stenosis Aortic Stenosis, Supravalvular Supra-Valvular Aortic Stenosis Stenosis, Aortic Supravalvular Stenosis, Supravalvular Aortic Supravalvular Stenosis, Aortic Aortic Stenosis Supravalvular
Cutis Laxa, Autosomal Dominant 1	Cutis Laxa, Autosomal Dominant Autosomal Dominant Cutis Laxa ADCL1 Adcl Autosomal Dominant Cutis Laxa 1 Cutis Laxa, Autosomal Dominant, 1 Cutis Laxa, Autosomal Dominant, Type 1
Geleophysic Dysplasia	Geleophysic Dwarfism Gphysd
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect

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 (1)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS07880	LTBP4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	LTBP4	VGNC	VGNC:31074
Macaca mulatta	LTBP4	VGNC	VGNC:74459
Felis catus	LTBP4	VGNC	VGNC:68104
Mus musculus	LTBP4	MGD	MGI:1321395
Canis familiaris	LTBP4	VGNC	VGNC:42859
Rattus norvegicus	LTBP4	RGD	RGD:1307033
Others	LTBP4	NCBI