LTBP1 - latent transforming growth factor beta binding protein 1 Gene

Also Known as ARCL2E

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4052

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
Molecular Function GO Annotation Evidence References Source
enables microfibril binding IDA
IDA: Inferred from direct assay
12429738 GOA
enables molecular adaptor activity EXP
EXP: Inferred from Experiment
28669633 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12429738 GOA
enables receptor ligand inhibitor activity IDA
IDA: Inferred from direct assay
8617200 GOA
enables transforming growth factor beta binding IPI
IPI: Inferred from physical interaction
2022183 GOA
Biological Process GO Annotation Evidence References Source
involved in establishment of protein localization to extracellular region IDA
IDA: Inferred from direct assay
2022183 GOA
involved in sequestering of TGFbeta in extracellular matrix IDA
IDA: Inferred from direct assay
2022183 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
8617200 GOA
located in microfibril IDA
IDA: Inferred from direct assay
12429738 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
12429738 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

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
Others LTBP1 NCBI