LTBP1

Protein identityUniProt · HPA

UniProt accession

Q14766

Gene

LTBP1

Ensembl

ENSG00000049323

Chromosome

2

Canonical length

1721 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins, Transporters

Secretome location

Secreted to extracellular matrix

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

1721 residues, UniProt reviewed canonical sequence.

>Q14766|LTBP1
     1  MAGAWLRWGL LLWAGLLASS AHGRLRRITY VVHPGPGLAA GALPLSGPPR SRTFNVALNA
    61  RYSRSSAAAG APSRASPGVP SERTRRTSKP GGAALQGLRP PPPPPPEPAR PAVPGGQLHP
   121  NPGGHPAAAP FTKQGRQVVR SKVPQETQSG GGSRLQVHQK QQLQGVNVCG GRCCHGWSKA
   181  PGSQRCTKPS CVPPCQNGGM CLRPQLCVCK PGTKGKACET IAAQDTSSPV FGGQSPGAAS
   241  SWGPPEQAAK HTSSKKADTL PRVSPVAQMT LTLKPKPSVG LPQQIHSQVT PLSSQSVVIH
   301  HGQTQEYVLK PKYFPAQKGI SGEQSTEGSF PLRYVQDQVA APFQLSNHTG RIKVVFTPSI
   361  CKVTCTKGSC QNSCEKGNTT TLISENGHAA DTLTATNFRV VICHLPCMNG GQCSSRDKCQ
   421  CPPNFTGKLC QIPVHGASVP KLYQHSQQPG KALGTHVIHS THTLPLTVTS QQGVKVKFPP
   481  NIVNIHVKHP PEASVQIHQV SRIDGPTGQK TKEAQPGQSQ VSYQGLPVQK TQTIHSTYSH
   541  QQVIPHVYPV AAKTQLGRCF QETIGSQCGK ALPGLSKQED CCGTVGTSWG FNKCQKCPKK
   601  PSYHGYNQMM ECLPGYKRVN NTFCQDINEC QLQGVCPNGE CLNTMGSYRC TCKIGFGPDP
   661  TFSSCVPDPP VISEEKGPCY RLVSSGRQCM HPLSVHLTKQ LCCCSVGKAW GPHCEKCPLP
   721  GTAAFKEICP GGMGYTVSGV HRRRPIHHHV GKGPVFVKPK NTQPVAKSTH PPPLPAKEEP
   781  VEALTFSREH GPGVAEPEVA TAPPEKEIPS LDQEKTKLEP GQPQLSPGIS TIHLHPQFPV
   841  VIEKTSPPVP VEVAPEASTS SASQVIAPTQ VTEINECTVN PDICGAGHCI NLPVRYTCIC
   901  YEGYRFSEQQ RKCVDIDECT QVQHLCSQGR CENTEGSFLC ICPAGFMASE EGTNCIDVDE
   961  CLRPDVCGEG HCVNTVGAFR CEYCDSGYRM TQRGRCEDID ECLNPSTCPD EQCVNSPGSY
  1021  QCVPCTEGFR GWNGQCLDVD ECLEPNVCAN GDCSNLEGSY MCSCHKGYTR TPDHKHCRDI
  1081  DECQQGNLCV NGQCKNTEGS FRCTCGQGYQ LSAAKDQCED IDECQHRHLC AHGQCRNTEG
  1141  SFQCVCDQGY RASGLGDHCE DINECLEDKS VCQRGDCINT AGSYDCTCPD GFQLDDNKTC
  1201  QDINECEHPG LCGPQGECLN TEGSFHCVCQ QGFSISADGR TCEDIDECVN NTVCDSHGFC
  1261  DNTAGSFRCL CYQGFQAPQD GQGCVDVNEC ELLSGVCGEA FCENVEGSFL CVCADENQEY
  1321  SPMTGQCRSR TSTDLDVDVD QPKEEKKECY YNLNDASLCD NVLAPNVTKQ ECCCTSGVGW
  1381  GDNCEIFPCP VLGTAEFTEM CPKGKGFVPA GESSSEAGGE NYKDADECLL FGQEICKNGF
  1441  CLNTRPGYEC YCKQGTYYDP VKLQCFDMDE CQDPSSCIDG QCVNTEGSYN CFCTHPMVLD
  1501  ASEKRCIRPA ESNEQIEETD VYQDLCWEHL SDEYVCSRPL VGKQTTYTEC CCLYGEAWGM
  1561  QCALCPLKDS DDYAQLCNIP VTGRRQPYGR DALVDFSEQY TPEADPYFIQ DRFLNSFEEL
  1621  QAEECGILNG CENGRCVRVQ EGYTCDCFDG YHLDTAKMTC VDVNECDELN NRMSLCKNAK
  1681  CINTDGSYKC LCLPGYVPSD KPNYCTPLNT ALNLEKDSDL E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LTBP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.48

Highest tissue expression

383 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LTBP1.

Disease | AllUniProt

Conditions LTBP1 is implicated in, by any mechanism.

• Cutis laxa, autosomal recessive, 2E (ARCL2E) MIM:619451

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 418 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cutis laxa, autosomal recessive, type 2E
• Fetal anomalies with a likely genetic cause

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.47

gnomAD pLI

0

gnomAD missense Z

0.17

DepMap mean gene effect

0

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• establishment of protein localization to extracellular region
• sequestering of TGFbeta in extracellular matrix

Molecular functions

• calcium ion binding
• microfibril binding
• molecular adaptor activity
• receptor ligand inhibitor activity
• transforming growth factor beta binding
• transforming growth factor beta receptor activity

Cellular components

• endoplasmic reticulum lumen
• extracellular matrix
• extracellular region
• microfibril
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• EGF-type aspartate/asparagine hydroxylation site
• EGF-like domain
• EGF-like calcium-binding domain
• Growth factor receptor cysteine-rich domain superfamily
• TB domain
• EGF-like calcium-binding, conserved site
• Complement Clr-like EGF domain
• TGF-beta binding (TB) domain superfamily
• NOTCH1, EGF-like calcium-binding domain
• Extracellular matrix structural protein
• TB domain
• Calcium-binding EGF domain
• Complement Clr-like EGF-like

KeywordsUniProt

• Disulfide bond
• EGF-like domain
• Extracellular matrix
• Glycoprotein
• Growth factor binding
• Hydroxylation
• Phosphoprotein
• Repeat
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of LTBP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ADAMTSL2
• EFEMP2
• FBN2
• TGFB1
• LTBP4