Seroatlas · Human Serome Atlas

LTBP3

Latent-transforming growth factor beta-binding protein 3

Also known as: LTBP2, LTBP3_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NS15
Gene: LTBP3
Ensembl: ENSG00000168056
Chromosome: 11
Canonical length: 1303 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Secretome location: Secreted to blood

OverviewNCBI Gene

The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

Canonical amino-acid sequenceUniProt

1303 residues, UniProt reviewed canonical sequence.

>Q9NS15|LTBP3
     1  MPGPRGAAGG LAPEMRGAGA AGLLALLLLL LLLLLGLGGR VEGGPAGERG AGGGGALARE
    61  RFKVVFAPVI CKRTCLKGQC RDSCQQGSNM TLIGENGHST DTLTGSGFRV VVCPLPCMNG
   121  GQCSSRNQCL CPPDFTGRFC QVPAGGAGGG TGGSGPGLSR TGALSTGALP PLAPEGDSVA
   181  SKHAIYAVQV IADPPGPGEG PPAQHAAFLV PLGPGQISAE VQAPPPVVNV RVHHPPEASV
   241  QVHRIESSNA ESAAPSQHLL PHPKPSHPRP PTQKPLGRCF QDTLPKQPCG SNPLPGLTKQ
   301  EDCCGSIGTA WGQSKCHKCP QLQYTGVQKP GPVRGEVGAD CPQGYKRLNS THCQDINECA
   361  MPGVCRHGDC LNNPGSYRCV CPPGHSLGPS RTQCIADKPE EKSLCFRLVS PEHQCQHPLT
   421  TRLTRQLCCC SVGKAWGARC QRCPTDGTAA FKEICPAGKG YHILTSHQTL TIQGESDFSL
   481  FLHPDGPPKP QQLPESPSQA PPPEDTEEER GVTTDSPVSE ERSVQQSHPT ATTTPARPYP
   541  ELISRPSPPT MRWFLPDLPP SRSAVEIAPT QVTETDECRL NQNICGHGEC VPGPPDYSCH
   601  CNPGYRSHPQ HRYCVDVNEC EAEPCGPGRG ICMNTGGSYN CHCNRGYRLH VGAGGRSCVD
   661  LNECAKPHLC GDGGFCINFP GHYKCNCYPG YRLKASRPPV CEDIDECRDP SSCPDGKCEN
   721  KPGSFKCIAC QPGYRSQGGG ACRDVNECAE GSPCSPGWCE NLPGSFRCTC AQGYAPAPDG
   781  RSCLDVDECE AGDVCDNGIC SNTPGSFQCQ CLSGYHLSRD RSHCEDIDEC DFPAACIGGD
   841  CINTNGSYRC LCPQGHRLVG GRKCQDIDEC SQDPSLCLPH GACKNLQGSY VCVCDEGFTP
   901  TQDQHGCEEV EQPHHKKECY LNFDDTVFCD SVLATNVTQQ ECCCSLGAGW GDHCEIYPCP
   961  VYSSAEFHSL CPDGKGYTQD NNIVNYGIPA HRDIDECMLF GSEICKEGKC VNTQPGYECY
  1021  CKQGFYYDGN LLECVDVDEC LDESNCRNGV CENTRGGYRC ACTPPAEYSP AQRQCLSPEE
  1081  MDVDECQDPA ACRPGRCVNL PGSYRCECRP PWVPGPSGRD CQLPESPAER APERRDVCWS
  1141  QRGEDGMCAG PLAGPALTFD DCCCRQGRGW GAQCRPCPPR GAGSHCPTSQ SESNSFWDTS
  1201  PLLLGKPPRD EDSSEEDSDE CRCVSGRCVP RPGGAVCECP GGFQLDASRA RCVDIDECRE
  1261  LNQRGLLCKS ERCVNTSGSF RCVCKAGFAR SRPHGACVPQ RRR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LTBP3 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): 0.47
Highest tissue expression: 227 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 227 nTPM
heart muscle: 87 nTPM
ovary: 85 nTPM
endometrium: 83 nTPM
cervix: 72 nTPM
thyroid gland: 67 nTPM

Single-cell type

peritubular myoid cells: 147 nCPM
pituicytes/fscs: 133 nCPM
leydig cells: 117 nCPM
epididymal principal cells: 96 nCPM
ependymal cells: 96 nCPM
fibroblasts: 95 nCPM

Immune cell

memory B-cell: 56 nTPM
naive B-cell: 45 nTPM
plasmacytoid DC: 12 nTPM
non-classical monocyte: 11 nTPM
T-reg: 11 nTPM
NK-cell: 11 nTPM

Brain region

medulla oblongata: 111 nTPM
spinal cord: 102 nTPM
white matter: 101 nTPM
midbrain: 90 nTPM
thalamus: 87 nTPM
basal ganglia: 86 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LTBP3.

Disease | AllUniProt

Conditions LTBP3 is implicated in, by any mechanism.

Dental anomalies and short stature (DASS) MIM:601216
Geleophysic dysplasia 3 (GPHYSD3) MIM:617809

Disease | GeneticClinVar

96 pathogenic / likely-pathogenic of 2,010 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Brachyolmia-amelogenesis imperfecta syndrome
Geleophysic dysplasia 3
LTBP3-related disorder
Heritable Thoracic Aortic Disease
Geleophysic dysplasia 1

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): 0.34
gnomAD pLI: 0.69
gnomAD missense Z: 2.85
DepMap mean gene effect: -0.25
DepMap dependency class: selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LTBP3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

EFEMP2

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LTBP3 as an antibody target. Whether an autoantibody or antibody against LTBP3 could matter depends on whether native LTBP3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LTBP3 is annotated as secreted, so native LTBP3 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label LTBP3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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