Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4052
Gene name Gene Name - the full gene name approved by the HGNC.
Latent transforming growth factor beta binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LTBP1
Synonyms (NCBI Gene) Gene synonyms aliases
ARCL2E
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ARCL2E
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017091 hsa-miR-335-5p Microarray 18185580
MIRT049456 hsa-miR-92a-3p CLASH 23622248
MIRT1122128 hsa-miR-1236 CLIP-seq
MIRT1122129 hsa-miR-128 CLIP-seq
MIRT1122130 hsa-miR-148a CLIP-seq
Transcription factors
Transcription factor Regulation Reference
STAT3 Repression 22814105
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001527 Component Microfibril IDA 12429738
GO:0005024 Function Transforming growth factor beta-activated receptor activity NAS 8537398
GO:0005201 Function Extracellular matrix structural constituent RCA 20551380, 23979707, 25037231, 28327460, 28675934
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 12429738, 17293099, 18677313, 19349279, 27339457
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
150390 6714 ENSG00000049323
Protein
UniProt ID Q14766
Protein name Latent-transforming growth factor beta-binding protein 1 (LTBP-1) (Transforming growth factor beta-1-binding protein 1) (TGF-beta1-BP-1)
Protein function Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:2022183, PubMed:8617200, PubMed:8939931). Associates sp
PDB 1KSQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00683 TB 567 612 TB domain Family
PF07645 EGF_CA 626 665 Calcium-binding EGF domain Domain
PF00683 TB 688 732 TB domain Family
PF07645 EGF_CA 915 955 Calcium-binding EGF domain Domain
PF07645 EGF_CA 957 996 Calcium-binding EGF domain Domain
PF07645 EGF_CA 998 1036 Calcium-binding EGF domain Domain
PF12662 cEGF 1059 1082 Complement Clr-like EGF-like Domain
PF07645 EGF_CA 1120 1159 Calcium-binding EGF domain Domain
PF07645 EGF_CA 1161 1200 Calcium-binding EGF domain Domain
PF07645 EGF_CA 1202 1242 Calcium-binding EGF domain Domain
PF07645 EGF_CA 1244 1284 Calcium-binding EGF domain Domain
PF07645 EGF_CA 1286 1327 Calcium-binding EGF domain Domain
PF00683 TB 1358 1404 TB domain Family
PF07645 EGF_CA 1424 1465 Calcium-binding EGF domain Domain
PF07645 EGF_CA 1467 1506 Calcium-binding EGF domain Domain
PF00683 TB 1535 1580 TB domain Family
PF07645 EGF_CA 1662 1705 Calcium-binding EGF domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the aorta (at protein level) (PubMed:17293099). Isoform Long: Expressed in fibroblasts (PubMed:17293099). {ECO:0000269|PubMed:17293099}.
Sequence
MAGAWLRWGLLLWAGLLASSAHGRLRRITYVVHPGPGLAAGALPLSGPPRSRTFNVALNA
RYSRSSAAAGAPSRASPGVPSERTRRTSKPGGAALQGLRPPPPPPPEPARPAVPGGQLHP
NPGGHPAAAPFTKQGRQVVRSKVPQETQSGGGSRLQVHQKQQLQGVNVCGGRCCHGWSKA
PGSQRCTKPSCVPPCQNGGMCLRPQLCVCKPGTKGKACETIAAQDTSSPVFGGQSPGAAS
SWGPPEQAAKHTSSKKADTLPRVSPVAQMTLTLKPKPSVGLPQQIHSQVTPLSSQSVVIH
HGQTQEYVLKPKYFPAQKGISGEQSTEGSFPLRYVQDQVAAPFQLSNHTGRIKVVFTPSI
CKVTCTKGSCQNSCEKGNTTTLISENGHAADTLTATNFRVVICHLPCMNGGQCSSRDKCQ
CPPNFTGKLCQIPVHGASVPKLYQHSQQPGKALGTHVIHSTHTLPLTVTSQQGVKVKFPP
NIVNIHVKHPPEASVQIHQVSRIDGPTGQKTKEAQPGQSQVSYQGLPVQKTQTIHSTYSH
QQVIPHVYPVAAKTQLGRCFQETIGSQCGKALPGLSKQEDCCGTVGTSWGFNKCQKCPKK
PSYHGYNQMMEC
LPGYKRVNNTFCQDINECQLQGVCPNGECLNTMGSYRCTCKIGFGPDP
TFSSC
VPDPPVISEEKGPCYRLVSSGRQCMHPLSVHLTKQLCCCSVGKAWGPHCEKCPLP
GTAAFKEICPGG
MGYTVSGVHRRRPIHHHVGKGPVFVKPKNTQPVAKSTHPPPLPAKEEP
VEALTFSREHGPGVAEPEVATAPPEKEIPSLDQEKTKLEPGQPQLSPGISTIHLHPQFPV
VIEKTSPPVPVEVAPEASTSSASQVIAPTQVTEINECTVNPDICGAGHCINLPVRYTCIC
YEGYRFSEQQRKCVDIDECTQVQHLCSQGRCENTEGSFLCICPAGFMASEEGTNCIDVDE
CLRPDVCGEGHCVNTVGAFRCEYCDSGYRMTQRGRC
EDIDECLNPSTCPDEQCVNSPGSY
QCVPCTEGFRGWNGQC
LDVDECLEPNVCANGDCSNLEGSYMCSCHKGYTRTPDHKHCRDI
DE
CQQGNLCVNGQCKNTEGSFRCTCGQGYQLSAAKDQCEDIDECQHRHLCAHGQCRNTEG
SFQCVCDQGYRASGLGDHC
EDINECLEDKSVCQRGDCINTAGSYDCTCPDGFQLDDNKTC
QDINECEHPGLCGPQGECLNTEGSFHCVCQQGFSISADGRTCEDIDECVNNTVCDSHGFC
DNTAGSFRCLCYQGFQAPQDGQGC
VDVNECELLSGVCGEAFCENVEGSFLCVCADENQEY
SPMTGQC
RSRTSTDLDVDVDQPKEEKKECYYNLNDASLCDNVLAPNVTKQECCCTSGVGW
GDNCEIFPCPVLGTAEFTEMCPKG
KGFVPAGESSSEAGGENYKDADECLLFGQEICKNGF
CLNTRPGYECYCKQGTYYDPVKLQC
FDMDECQDPSSCIDGQCVNTEGSYNCFCTHPMVLD
ASEKRC
IRPAESNEQIEETDVYQDLCWEHLSDEYVCSRPLVGKQTTYTECCCLYGEAWGM
QCALCPLKDSDDYAQLCNIP
VTGRRQPYGRDALVDFSEQYTPEADPYFIQDRFLNSFEEL
QAEECGILNGCENGRCVRVQEGYTCDCFDGYHLDTAKMTCVDVNECDELNNRMSLCKNAK
CINTDGSYKCLCLPGYVPSDKPNYC
TPLNTALNLEKDSDLE
Sequence length 1721
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  TGF-beta signaling pathway   Molecules associated with elastic fibres
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470 30664745
Carpal tunnel syndrome Carpal Tunnel Syndrome rs28936368, rs121918088 30833571
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Cutis Laxa cutis laxa, autosomal recessive, type 2E GenCC
Carpal Tunnel Syndrome Carpal Tunnel Syndrome GWAS
Glaucoma Glaucoma GWAS
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Mucinous Stimulate 11376559
Adenocarcinoma of Lung Associate 34941039
Adrenocortical Carcinoma Associate 37895143
Anxiety Disorders Associate 33059753
Arthritis Juvenile Associate 34101054
Arthritis Rheumatoid Associate 17594488
Atherosclerosis Associate 38328934
Burnett Schwartz Berberian syndrome Associate 11713352
CADASIL Associate 25190493, 32188464
Calcinosis Associate 38328934