Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4052
Gene name	Latent transforming growth factor beta binding protein 1
Gene symbol	LTBP1
Synonyms (NCBI Gene)	ARCL2E
Chromosome	2
Chromosome location	2p22.3
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

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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
MIRT1122131	hsa-miR-148b	CLIP-seq
MIRT1122132	hsa-miR-152	CLIP-seq
MIRT1122133	hsa-miR-2467-3p	CLIP-seq
MIRT1122134	hsa-miR-3183	CLIP-seq
MIRT1122135	hsa-miR-3678-3p	CLIP-seq
MIRT1122136	hsa-miR-3941	CLIP-seq
MIRT1122137	hsa-miR-3942-5p	CLIP-seq
MIRT1122138	hsa-miR-4452	CLIP-seq
MIRT1122139	hsa-miR-466	CLIP-seq
MIRT1122140	hsa-miR-4672	CLIP-seq
MIRT1122141	hsa-miR-4703-5p	CLIP-seq
MIRT1122142	hsa-miR-4723-3p	CLIP-seq
MIRT1122143	hsa-miR-590-3p	CLIP-seq
MIRT1122144	hsa-miR-1228	CLIP-seq
MIRT1122145	hsa-miR-3064-3p	CLIP-seq
MIRT1122146	hsa-miR-3944-3p	CLIP-seq
MIRT1122147	hsa-miR-4437	CLIP-seq
MIRT1122148	hsa-miR-4793-5p	CLIP-seq
MIRT1122149	hsa-miR-133a	CLIP-seq
MIRT1122150	hsa-miR-133b	CLIP-seq
MIRT1122145	hsa-miR-3064-3p	CLIP-seq
MIRT1122151	hsa-miR-346	CLIP-seq
MIRT1122152	hsa-miR-4527	CLIP-seq
MIRT1122153	hsa-miR-4727-5p	CLIP-seq
MIRT1122154	hsa-miR-4769-3p	CLIP-seq
MIRT1122155	hsa-miR-539	CLIP-seq
MIRT2034495	hsa-miR-10a	CLIP-seq
MIRT2034496	hsa-miR-10b	CLIP-seq
MIRT1122128	hsa-miR-1236	CLIP-seq
MIRT1122129	hsa-miR-128	CLIP-seq
MIRT1122130	hsa-miR-148a	CLIP-seq
MIRT1122131	hsa-miR-148b	CLIP-seq
MIRT1122132	hsa-miR-152	CLIP-seq
MIRT2034497	hsa-miR-153	CLIP-seq
MIRT2034498	hsa-miR-194	CLIP-seq
MIRT2034499	hsa-miR-204	CLIP-seq
MIRT2034500	hsa-miR-211	CLIP-seq
MIRT1122133	hsa-miR-2467-3p	CLIP-seq
MIRT2034501	hsa-miR-2964a-3p	CLIP-seq
MIRT2034502	hsa-miR-3180-5p	CLIP-seq
MIRT1122134	hsa-miR-3183	CLIP-seq
MIRT2034503	hsa-miR-338-5p	CLIP-seq
MIRT2034504	hsa-miR-3614-3p	CLIP-seq
MIRT1122135	hsa-miR-3678-3p	CLIP-seq
MIRT2034505	hsa-miR-369-3p	CLIP-seq
MIRT2034506	hsa-miR-374a	CLIP-seq
MIRT2034507	hsa-miR-374b	CLIP-seq
MIRT2034508	hsa-miR-374c	CLIP-seq
MIRT1122136	hsa-miR-3941	CLIP-seq
MIRT2034509	hsa-miR-4287	CLIP-seq
MIRT2034510	hsa-miR-4297	CLIP-seq
MIRT1122138	hsa-miR-4452	CLIP-seq
MIRT2034511	hsa-miR-4469	CLIP-seq
MIRT2034512	hsa-miR-448	CLIP-seq
MIRT2034513	hsa-miR-4497	CLIP-seq
MIRT2034514	hsa-miR-4652-3p	CLIP-seq
MIRT1122139	hsa-miR-466	CLIP-seq
MIRT1122140	hsa-miR-4672	CLIP-seq
MIRT2034515	hsa-miR-4685-3p	CLIP-seq
MIRT2034516	hsa-miR-4713-5p	CLIP-seq
MIRT1122142	hsa-miR-4723-3p	CLIP-seq
MIRT2034517	hsa-miR-4804-3p	CLIP-seq
MIRT2034518	hsa-miR-548k	CLIP-seq
MIRT1122143	hsa-miR-590-3p	CLIP-seq
MIRT2034519	hsa-miR-655	CLIP-seq
MIRT1122128	hsa-miR-1236	CLIP-seq
MIRT1122129	hsa-miR-128	CLIP-seq
MIRT1122130	hsa-miR-148a	CLIP-seq
MIRT1122131	hsa-miR-148b	CLIP-seq
MIRT1122132	hsa-miR-152	CLIP-seq
MIRT2264964	hsa-miR-15a	CLIP-seq
MIRT2264965	hsa-miR-15b	CLIP-seq
MIRT2264966	hsa-miR-16	CLIP-seq
MIRT2264967	hsa-miR-195	CLIP-seq
MIRT2034499	hsa-miR-204	CLIP-seq
MIRT2034500	hsa-miR-211	CLIP-seq
MIRT1122133	hsa-miR-2467-3p	CLIP-seq
MIRT2034501	hsa-miR-2964a-3p	CLIP-seq
MIRT1122134	hsa-miR-3183	CLIP-seq
MIRT2264968	hsa-miR-3591-3p	CLIP-seq
MIRT1122135	hsa-miR-3678-3p	CLIP-seq
MIRT1122136	hsa-miR-3941	CLIP-seq
MIRT2264969	hsa-miR-424	CLIP-seq
MIRT2034509	hsa-miR-4287	CLIP-seq
MIRT1122138	hsa-miR-4452	CLIP-seq
MIRT2264970	hsa-miR-4453	CLIP-seq
MIRT2034511	hsa-miR-4469	CLIP-seq
MIRT2264971	hsa-miR-4511	CLIP-seq
MIRT2264972	hsa-miR-4524	CLIP-seq
MIRT2264973	hsa-miR-4538	CLIP-seq
MIRT2264974	hsa-miR-4637	CLIP-seq
MIRT2264975	hsa-miR-4645-5p	CLIP-seq
MIRT1122139	hsa-miR-466	CLIP-seq
MIRT1122140	hsa-miR-4672	CLIP-seq
MIRT2264976	hsa-miR-4673	CLIP-seq
MIRT2034515	hsa-miR-4685-3p	CLIP-seq
MIRT2034516	hsa-miR-4713-5p	CLIP-seq
MIRT1122142	hsa-miR-4723-3p	CLIP-seq
MIRT2264977	hsa-miR-497	CLIP-seq
MIRT2264978	hsa-miR-503	CLIP-seq
MIRT2264979	hsa-miR-548b-3p	CLIP-seq
MIRT2264980	hsa-miR-621	CLIP-seq
MIRT2264981	hsa-miR-646	CLIP-seq
MIRT1122144	hsa-miR-1228	CLIP-seq
MIRT1122145	hsa-miR-3064-3p	CLIP-seq
MIRT1122146	hsa-miR-3944-3p	CLIP-seq
MIRT1122147	hsa-miR-4437	CLIP-seq
MIRT1122148	hsa-miR-4793-5p	CLIP-seq
MIRT2438456	hsa-miR-605	CLIP-seq
MIRT1122144	hsa-miR-1228	CLIP-seq
MIRT2563976	hsa-miR-1297	CLIP-seq
MIRT2563977	hsa-miR-1324	CLIP-seq
MIRT2563978	hsa-miR-141	CLIP-seq
MIRT2563979	hsa-miR-142-5p	CLIP-seq
MIRT2034497	hsa-miR-153	CLIP-seq
MIRT2563980	hsa-miR-200a	CLIP-seq
MIRT2563981	hsa-miR-26a	CLIP-seq
MIRT2563982	hsa-miR-26b	CLIP-seq
MIRT2034501	hsa-miR-2964a-3p	CLIP-seq
MIRT2563983	hsa-miR-300	CLIP-seq
MIRT1122145	hsa-miR-3064-3p	CLIP-seq
MIRT2034502	hsa-miR-3180-5p	CLIP-seq
MIRT1122134	hsa-miR-3183	CLIP-seq
MIRT2034503	hsa-miR-338-5p	CLIP-seq
MIRT2563984	hsa-miR-340	CLIP-seq
MIRT2563985	hsa-miR-34b	CLIP-seq
MIRT2563986	hsa-miR-3613-3p	CLIP-seq
MIRT2034504	hsa-miR-3614-3p	CLIP-seq
MIRT2563987	hsa-miR-3647-3p	CLIP-seq
MIRT2563988	hsa-miR-3686	CLIP-seq
MIRT2034505	hsa-miR-369-3p	CLIP-seq
MIRT2034506	hsa-miR-374a	CLIP-seq
MIRT2034507	hsa-miR-374b	CLIP-seq
MIRT2034508	hsa-miR-374c	CLIP-seq
MIRT2563989	hsa-miR-381	CLIP-seq
MIRT1122146	hsa-miR-3944-3p	CLIP-seq
MIRT2563990	hsa-miR-4257	CLIP-seq
MIRT2563991	hsa-miR-4289	CLIP-seq
MIRT2034510	hsa-miR-4297	CLIP-seq
MIRT2563992	hsa-miR-4436a	CLIP-seq
MIRT1122147	hsa-miR-4437	CLIP-seq
MIRT1122138	hsa-miR-4452	CLIP-seq
MIRT2563993	hsa-miR-4465	CLIP-seq
MIRT2034512	hsa-miR-448	CLIP-seq
MIRT2034513	hsa-miR-4497	CLIP-seq
MIRT2264975	hsa-miR-4645-5p	CLIP-seq
MIRT2034514	hsa-miR-4652-3p	CLIP-seq
MIRT2563994	hsa-miR-4666-3p	CLIP-seq
MIRT2563995	hsa-miR-4668-3p	CLIP-seq
MIRT2264976	hsa-miR-4673	CLIP-seq
MIRT2563996	hsa-miR-4700-3p	CLIP-seq
MIRT1122142	hsa-miR-4723-3p	CLIP-seq
MIRT2563997	hsa-miR-4742-3p	CLIP-seq
MIRT2563998	hsa-miR-4763-5p	CLIP-seq
MIRT1122148	hsa-miR-4793-5p	CLIP-seq
MIRT2034517	hsa-miR-4804-3p	CLIP-seq
MIRT2563999	hsa-miR-511	CLIP-seq
MIRT2564000	hsa-miR-513c	CLIP-seq
MIRT2564001	hsa-miR-514b-5p	CLIP-seq
MIRT2564002	hsa-miR-515-5p	CLIP-seq
MIRT2564003	hsa-miR-520d-5p	CLIP-seq
MIRT2564004	hsa-miR-524-5p	CLIP-seq
MIRT2564005	hsa-miR-548a-5p	CLIP-seq
MIRT2564006	hsa-miR-548ab	CLIP-seq
MIRT2564007	hsa-miR-548ak	CLIP-seq
MIRT2564008	hsa-miR-548b-5p	CLIP-seq
MIRT2564009	hsa-miR-548c-5p	CLIP-seq
MIRT2564010	hsa-miR-548d-5p	CLIP-seq
MIRT2564011	hsa-miR-548h	CLIP-seq
MIRT2564012	hsa-miR-548i	CLIP-seq
MIRT2564013	hsa-miR-548j	CLIP-seq
MIRT2034518	hsa-miR-548k	CLIP-seq
MIRT2564014	hsa-miR-548l	CLIP-seq
MIRT2564015	hsa-miR-548w	CLIP-seq
MIRT2564016	hsa-miR-548y	CLIP-seq
MIRT2564017	hsa-miR-559	CLIP-seq
MIRT2564018	hsa-miR-561	CLIP-seq
MIRT2438456	hsa-miR-605	CLIP-seq
MIRT2564019	hsa-miR-607	CLIP-seq
MIRT2034519	hsa-miR-655	CLIP-seq
MIRT2034495	hsa-miR-10a	CLIP-seq
MIRT2034496	hsa-miR-10b	CLIP-seq
MIRT1122144	hsa-miR-1228	CLIP-seq
MIRT2563976	hsa-miR-1297	CLIP-seq
MIRT2563977	hsa-miR-1324	CLIP-seq
MIRT2563978	hsa-miR-141	CLIP-seq
MIRT2563979	hsa-miR-142-5p	CLIP-seq
MIRT2034497	hsa-miR-153	CLIP-seq
MIRT2034498	hsa-miR-194	CLIP-seq
MIRT2563980	hsa-miR-200a	CLIP-seq
MIRT2034499	hsa-miR-204	CLIP-seq
MIRT2034500	hsa-miR-211	CLIP-seq
MIRT2563981	hsa-miR-26a	CLIP-seq
MIRT2563982	hsa-miR-26b	CLIP-seq
MIRT2034501	hsa-miR-2964a-3p	CLIP-seq
MIRT2563983	hsa-miR-300	CLIP-seq
MIRT1122145	hsa-miR-3064-3p	CLIP-seq
MIRT2034502	hsa-miR-3180-5p	CLIP-seq
MIRT1122134	hsa-miR-3183	CLIP-seq
MIRT2034503	hsa-miR-338-5p	CLIP-seq
MIRT2563984	hsa-miR-340	CLIP-seq
MIRT2563985	hsa-miR-34b	CLIP-seq
MIRT2563986	hsa-miR-3613-3p	CLIP-seq
MIRT2034504	hsa-miR-3614-3p	CLIP-seq
MIRT2563987	hsa-miR-3647-3p	CLIP-seq
MIRT2563988	hsa-miR-3686	CLIP-seq
MIRT2034505	hsa-miR-369-3p	CLIP-seq
MIRT2034506	hsa-miR-374a	CLIP-seq
MIRT2034507	hsa-miR-374b	CLIP-seq
MIRT2034508	hsa-miR-374c	CLIP-seq
MIRT2563989	hsa-miR-381	CLIP-seq
MIRT1122146	hsa-miR-3944-3p	CLIP-seq
MIRT2563990	hsa-miR-4257	CLIP-seq
MIRT2034509	hsa-miR-4287	CLIP-seq
MIRT2563991	hsa-miR-4289	CLIP-seq
MIRT2034510	hsa-miR-4297	CLIP-seq
MIRT2563992	hsa-miR-4436a	CLIP-seq
MIRT1122147	hsa-miR-4437	CLIP-seq
MIRT1122138	hsa-miR-4452	CLIP-seq
MIRT2563993	hsa-miR-4465	CLIP-seq
MIRT2034511	hsa-miR-4469	CLIP-seq
MIRT2034512	hsa-miR-448	CLIP-seq
MIRT2034513	hsa-miR-4497	CLIP-seq
MIRT2264975	hsa-miR-4645-5p	CLIP-seq
MIRT2034514	hsa-miR-4652-3p	CLIP-seq
MIRT2563994	hsa-miR-4666-3p	CLIP-seq
MIRT2563995	hsa-miR-4668-3p	CLIP-seq
MIRT2264976	hsa-miR-4673	CLIP-seq
MIRT2034515	hsa-miR-4685-3p	CLIP-seq
MIRT2563996	hsa-miR-4700-3p	CLIP-seq
MIRT2034516	hsa-miR-4713-5p	CLIP-seq
MIRT1122142	hsa-miR-4723-3p	CLIP-seq
MIRT2563997	hsa-miR-4742-3p	CLIP-seq
MIRT2563998	hsa-miR-4763-5p	CLIP-seq
MIRT1122148	hsa-miR-4793-5p	CLIP-seq
MIRT2034517	hsa-miR-4804-3p	CLIP-seq
MIRT2563999	hsa-miR-511	CLIP-seq
MIRT2564000	hsa-miR-513c	CLIP-seq
MIRT2564001	hsa-miR-514b-5p	CLIP-seq
MIRT2564002	hsa-miR-515-5p	CLIP-seq
MIRT2564003	hsa-miR-520d-5p	CLIP-seq
MIRT2564004	hsa-miR-524-5p	CLIP-seq
MIRT2564005	hsa-miR-548a-5p	CLIP-seq
MIRT2564006	hsa-miR-548ab	CLIP-seq
MIRT2564007	hsa-miR-548ak	CLIP-seq
MIRT2564008	hsa-miR-548b-5p	CLIP-seq
MIRT2564009	hsa-miR-548c-5p	CLIP-seq
MIRT2564010	hsa-miR-548d-5p	CLIP-seq
MIRT2564011	hsa-miR-548h	CLIP-seq
MIRT2564012	hsa-miR-548i	CLIP-seq
MIRT2564013	hsa-miR-548j	CLIP-seq
MIRT2034518	hsa-miR-548k	CLIP-seq
MIRT2564014	hsa-miR-548l	CLIP-seq
MIRT2564015	hsa-miR-548w	CLIP-seq
MIRT2564016	hsa-miR-548y	CLIP-seq
MIRT2564017	hsa-miR-559	CLIP-seq
MIRT2564018	hsa-miR-561	CLIP-seq
MIRT2438456	hsa-miR-605	CLIP-seq
MIRT2564019	hsa-miR-607	CLIP-seq
MIRT2034519	hsa-miR-655	CLIP-seq

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Transcription factor	Regulation	Reference
STAT3	Repression	22814105

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001527	Component	Microfibril	IDA	12429738
GO:0005024	Function	Transforming growth factor beta 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, 21677751, 27339457, 28669633
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0019838	Function	Growth factor binding	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23979707, 25037231, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IDA	8617200, 16157329
GO:0031012	Component	Extracellular matrix	NAS	8537398
GO:0032991	Component	Protein-containing complex	IDA	12429738
GO:0035583	Process	Sequestering of TGFbeta in extracellular matrix	IDA	2022183, 8617200
GO:0035583	Process	Sequestering of TGFbeta in extracellular matrix	TAS	18677313
GO:0035592	Process	Establishment of protein localization to extracellular region	IDA	2022183
GO:0035592	Process	Establishment of protein localization to extracellular region	IEA
GO:0050431	Function	Transforming growth factor beta binding	IEA
GO:0050431	Function	Transforming growth factor beta binding	IPI	2022183, 8617200, 10930463, 18672106
GO:0050436	Function	Microfibril binding	IBA
GO:0050436	Function	Microfibril binding	IDA	12429738
GO:0060090	Function	Molecular adaptor activity	EXP	28669633
GO:0141069	Function	Receptor ligand inhibitor activity	IDA	8617200

MIM	HGNC	e!Ensembl
150390	6714	ENSG00000049323

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
PSYHGYNQMMECLPGYKRVNNTFCQDINECQLQGVCPNGECLNTMGSYRCTCKIGFGPDP
TFSSCVPDPPVISEEKGPCYRLVSSGRQCMHPLSVHLTKQLCCCSVGKAWGPHCEKCPLP
GTAAFKEICPGGMGYTVSGVHRRRPIHHHVGKGPVFVKPKNTQPVAKSTHPPPLPAKEEP
VEALTFSREHGPGVAEPEVATAPPEKEIPSLDQEKTKLEPGQPQLSPGISTIHLHPQFPV
VIEKTSPPVPVEVAPEASTSSASQVIAPTQVTEINECTVNPDICGAGHCINLPVRYTCIC
YEGYRFSEQQRKCVDIDECTQVQHLCSQGRCENTEGSFLCICPAGFMASEEGTNCIDVDE
CLRPDVCGEGHCVNTVGAFRCEYCDSGYRMTQRGRCEDIDECLNPSTCPDEQCVNSPGSY
QCVPCTEGFRGWNGQCLDVDECLEPNVCANGDCSNLEGSYMCSCHKGYTRTPDHKHCRDI
DECQQGNLCVNGQCKNTEGSFRCTCGQGYQLSAAKDQCEDIDECQHRHLCAHGQCRNTEG
SFQCVCDQGYRASGLGDHCEDINECLEDKSVCQRGDCINTAGSYDCTCPDGFQLDDNKTC
QDINECEHPGLCGPQGECLNTEGSFHCVCQQGFSISADGRTCEDIDECVNNTVCDSHGFC
DNTAGSFRCLCYQGFQAPQDGQGCVDVNECELLSGVCGEAFCENVEGSFLCVCADENQEY
SPMTGQCRSRTSTDLDVDVDQPKEEKKECYYNLNDASLCDNVLAPNVTKQECCCTSGVGW
GDNCEIFPCPVLGTAEFTEMCPKGKGFVPAGESSSEAGGENYKDADECLLFGQEICKNGF
CLNTRPGYECYCKQGTYYDPVKLQCFDMDECQDPSSCIDGQCVNTEGSYNCFCTHPMVLD
ASEKRCIRPAESNEQIEETDVYQDLCWEHLSDEYVCSRPLVGKQTTYTECCCLYGEAWGM
QCALCPLKDSDDYAQLCNIPVTGRRQPYGRDALVDFSEQYTPEADPYFIQDRFLNSFEEL
QAEECGILNGCENGRCVRVQEGYTCDCFDGYHLDTAKMTCVDVNECDELNNRMSLCKNAK
CINTDGSYKCLCLPGYVPSDKPNYCTPLNTALNLEKDSDLE

Sequence length

1721

Interactions

View interactions

	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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cutis laxa, autosomal recessive, type 2E	Pathogenic; Likely pathogenic	rs2150785723, rs2150084747, rs1441358067, rs2150575155, rs2149767574	RCV001542239 RCV001542240 RCV001542242 RCV001775423 RCV001848636	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CUTIS LAXA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LTBP1-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (57)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	37895143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	33059753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	34101054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17594488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	38328934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burnett Schwartz Berberian syndrome	Burnett schwartz berberian syndrome	Pubtator	11713352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	25190493, 32188464	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	38328934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	11376559, 16825507, 26264810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	BEFREE	27956181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	GWASCAT_DG	30833571		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Vascular leukoencephalopathy	BEFREE	25369932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	11104663, 21161366		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	11104663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	21071877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	11104663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29257223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASCAT_DG	30664745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	33059753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25401107	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	12453917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	37894778	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32216815	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	17360930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33059753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31427735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	19431147	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	36124685	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	20524979	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	11713352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22434388, 31343988		★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	29698332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28346420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32216815	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	29257223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	21106222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11376559, 16825507, 26264810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18827819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	37049604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	11376559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21106222, 28346420, 31628042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	37947594	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37749624	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis Hip	Osteoarthritis	Pubtator	37749624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis Knee	Osteoarthritis	Pubtator	37749624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30664745		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	CTD_human_DG	30374069		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis, Knee	Knee osteoarthritis	GWASCAT_DG	30374069, 30664745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	11376559, 16825507, 26264810		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16825507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11376559, 16825507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Protoporphyria Erythropoietic	Erythropoietic protoporphyria	Pubtator	31747953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33316777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35462469	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36629522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	17360930		★★★★★ ★☆☆☆☆ Found in Text Mining only

LTBP1 (latent transforming growth factor beta binding protein 1)