1. Gene
  2. LTBP1 - latent transforming growth factor beta binding protein 1 Gene

LTBP1 - latent transforming growth factor beta binding protein 1 Gene

Homo sapiens

Also known as ARCL2E

Gene ID: 4052 | Gene type: protein coding

About LTBP1

Cytogenetic location: 2p22.3 Genomic coordinates (GRCh38): 2:32,946,953-33,399,509 (from NCBI)

This gene has 12 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in gall bladder (RPKM 40.6), placenta (RPKM 32.5) and 24 other tissues.

Summary

The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

LTBP1 Products(27)

mRNA Protein Name
NM_000627.4 NP_000618.4 latent-transforming growth factor beta-binding protein 1 isoform LTBP-1S precursor
NM_001166264.2 NP_001159736.2 latent-transforming growth factor beta-binding protein 1 isoform 4 precursor
NM_001166265.2 NP_001159737.2 latent-transforming growth factor beta-binding protein 1 isoform 3 precursor
NM_001166266.2 NP_001159738.2 latent-transforming growth factor beta-binding protein 1 isoform 5 precursor
NM_001394905.1 NP_001381834.1 latent-transforming growth factor beta-binding protein 1 isoform 6 precursor
NM_001394906.1 NP_001381835.1 latent-transforming growth factor beta-binding protein 1 isoform 7 precursor
NM_001394907.1 NP_001381836.1 latent-transforming growth factor beta-binding protein 1 isoform 8 precursor
NM_001394908.1 NP_001381837.1 latent-transforming growth factor beta-binding protein 1 isoform 9 precursor
NM_001394909.1 NP_001381838.1 latent-transforming growth factor beta-binding protein 1 isoform 10 precursor
NM_001394910.1 NP_001381839.1 latent-transforming growth factor beta-binding protein 1 isoform 11 precursor
NM_001394911.1 NP_001381840.1 latent-transforming growth factor beta-binding protein 1 isoform 12 precursor
NM_001394912.1 NP_001381841.1 latent-transforming growth factor beta-binding protein 1 isoform 13 precursor
NM_001394913.1 NP_001381842.1 latent-transforming growth factor beta-binding protein 1 isoform 14 precursor
NM_001394914.1 NP_001381843.1 latent-transforming growth factor beta-binding protein 1 isoform 15 precursor
NM_001394915.1 NP_001381844.1 latent-transforming growth factor beta-binding protein 1 isoform 16 precursor
NM_001394916.1 NP_001381845.1 latent-transforming growth factor beta-binding protein 1 isoform 17
NM_001394917.1 NP_001381846.1 latent-transforming growth factor beta-binding protein 1 isoform 18 precursor
NM_001394918.1 NP_001381847.1 latent-transforming growth factor beta-binding protein 1 isoform 19 precursor
NM_001394919.1 NP_001381848.1 latent-transforming growth factor beta-binding protein 1 isoform 20 precursor
NM_001394920.1 NP_001381849.1 latent-transforming growth factor beta-binding protein 1 isoform 21 precursor
NM_001394921.1 NP_001381850.1 latent-transforming growth factor beta-binding protein 1 isoform 22 precursor
NM_001394923.1 NP_001381852.1 latent-transforming growth factor beta-binding protein 1 isoform 23 precursor
NM_001394924.1 NP_001381853.1 latent-transforming growth factor beta-binding protein 1 isoform 24 precursor
NM_001394925.1 NP_001381854.1 latent-transforming growth factor beta-binding protein 1 isoform 25 precursor
NM_001394926.1 NP_001381855.1 latent-transforming growth factor beta-binding protein 1 isoform 26 precursor
NM_001394927.1 NP_001381856.1 latent-transforming growth factor beta-binding protein 1 isoform 27 precursor
NM_206943.4 NP_996826.3 latent-transforming growth factor beta-binding protein 1 isoform LTBP-1L precursor

LTBP1 Protein Structure

TB

TB: TB domain (566 - 609)

EGF_CA

EGF_CA: Calcium-binding EGF domain (626 - 665)

TB

TB: TB domain (688 - 728)

EGF_CA

EGF_CA: Calcium-binding EGF domain (915 - 955)

EGF_CA

EGF_CA: Calcium-binding EGF domain (957 - 996)

EGF_CA

EGF_CA: Calcium-binding EGF domain (998 - 1033)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1038 - 1077)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1079 - 1118)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1120 - 1159)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1161 - 1200)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1202 - 1242)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1244 - 1284)

TB

TB: TB domain (1358 - 1400)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1467 - 1506)

TB

TB: TB domain (1535 - 1576)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1662 - 1705)

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  • 1721 a.a.
Protein Preferred Names Protein Names

latent-transforming growth factor beta-binding protein 1

LTBP-1

Related Diseases

Diseases Alias
Cutis Laxa, Autosomal Recessive, Type Iie

ARCL2E

Autosomal Recessive Cutis Laxa Type 2

Arcl2

Cutis Laxa With Joint Laxity And Developmental Delay

Cutis Laxa, Autosomal Recessive, 2e

Cutis Laxa, Autosomal Recessive, Type 2e

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

Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

Cutis Laxa

Generalized Elastolysis

Loose Skin

Dermatolysis

Dermatomegaly

Cutis Laxa Syndrome

Inguinal Hernia

Hernia Inguinal

Hernia, Inguinal

Inguinal Hernias

Bubonocele

Indirect Inguinal Hernia

Direct Inguinal Hernia

Oblique Inguinal Hernia

Scrotal Hernia

Ih - [Inguinal Hernia]

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1

Cadasil

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Casil

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Familial Vascular Leukoencephalopathy

CADASIL1

Cadasil 1

Hereditary Multi-Infarct Dementia

Cadasil Syndrome

Dementia, Hereditary Multiinfarct Type

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1

Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy

Dementia, Hereditary Multi-Infarct Type

Hereditary Dementia, Multi-Infarct Type

Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy

Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant

Dementia Hereditary Multiinfarct Type

Dementia Hereditary Multi-Infarct Type

Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy

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

Acromicric Dysplasia

ACMICD

Acromicric Skeletal Dysplasia

Dysplasia, Acromicric

Stiff Skin Syndrome

SSKS

Stiff Skin

Weill-Marchesani Syndrome

Gemss Syndrome

Spherophakia-Brachymorphia Syndrome

Marchesani-Weill Syndrome

Wms

Congenital Mesodermal Dystrophy

Mesodermal Dysmorphodystrophy, Congenital

Spherophakia Brachymorphia Syndrome

Mesodermal Dysmorphodystrophy Congenital

Wm Syndrome

Brachydactyly-Spherophakia Syndrome

Brachymorphy With Spherophakia Syndrome

Congenital Mesodermal Dysmorphodystrophy

Marchesani Syndrome

Weill-Marchesani Syndrome, Autosomal Recessive

Weill-Marchesani Syndrome, Autosomal Dominant

Brachydactyly
Isolated Ectopia Lentis

Familial Ectopia Lentis

Ectopia Lentis

Ectopia Lentis Syndrome

Lens Subluxation

Iel

Congenital Ectopia Lentis

Subluxation Of Lens

Ectopia Lentis, Isolated

Ectopia Lentis Isolated

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

Phacogenic Glaucoma
Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome

Lds

Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies

Furlong Syndrome

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

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

Orthologs Information

Species Symbol Source ID
Bos taurus LTBP1 VGNC VGNC:31071
Mus musculus LTBP1 MGD MGI:109151
Macaca mulatta LTBP1 VGNC VGNC:74456
Rattus norvegicus LTBP1 RGD RGD:68379
Felis catus LTBP1 VGNC VGNC:81116
Canis familiaris LTBP1 VGNC VGNC:42856