LOCUS NP_036596 1013 aa linear PRI 24-DEC-2022
DEFINITION tolloid-like protein 1 isoform 1 precursor [Homo sapiens].
ACCESSION NP_036596
VERSION NP_036596.3
DBSOURCE REFSEQ: accession NM_012464.5
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 1013)
AUTHORS Liu J, Zhang S, Pei H, Tu F, Liu B, Yan J and Lin X.
TITLE Klebsiella pneumoniae activates the TGF-beta signaling pathway to
adhere to and invade intestinal epithelial cells via enhancing TLL1
expression
JOURNAL Int J Med Microbiol 312 (6), 151561 (2022)
PUBMED 36087399
REMARK GeneRIF: Klebsiella pneumoniae activates the TGF-beta signaling
pathway to adhere to and invade intestinal epithelial cells via
enhancing TLL1 expression.
REFERENCE 2 (residues 1 to 1013)
AUTHORS Agwa SHA, Kamel MM, Elghazaly H, Abd Elsamee AM, Hafez H, Girgis
SA, Ezz Elarab H, Ebeid FSE, Sayed SM, Sherif L and Matboli M.
TITLE Association between Interferon-Lambda-3 rs12979860, TLL1 rs17047200
and DDR1 rs4618569 Variant Polymorphisms with the Course and
Outcome of SARS-CoV-2 Patients
JOURNAL Genes (Basel) 12 (6), 830 (2021)
PUBMED 34071309
REMARK GeneRIF: Association between Interferon-Lambda-3 rs12979860, TLL1
rs17047200 and DDR1 rs4618569 Variant Polymorphisms with the Course
and Outcome of SARS-CoV-2 Patients.
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 1013)
AUTHORS McCoy JC, Goebel EJ and Thompson TB.
TITLE Characterization of tolloid-mediated cleavage of the GDF8
procomplex
JOURNAL Biochem J 478 (9), 1733-1747 (2021)
PUBMED 33876824
REMARK GeneRIF: Characterization of tolloid-mediated cleavage of the GDF8
procomplex.
REFERENCE 4 (residues 1 to 1013)
AUTHORS Mangoud NOM, Ali SA, El Kassas M and Soror SH.
TITLE Chitinase 3-like-1, Tolloid-like protein 1, and intergenic gene
polymorphisms are predictors for hepatocellular carcinoma
development after hepatitis C virus eradication by direct-acting
antivirals
JOURNAL IUBMB Life 73 (2), 474-482 (2021)
PUBMED 33347699
REMARK GeneRIF: Chitinase 3-like-1, Tolloid-like protein 1, and intergenic
gene polymorphisms are predictors for hepatocellular carcinoma
development after hepatitis C virus eradication by direct-acting
antivirals.
REFERENCE 5 (residues 1 to 1013)
AUTHORS Bayoumi A, Jalil I, Metwally M, Adams LA, Aller R, Garcia-Monzon C,
Arias-Loste MT, Miele L, Petta S, Craxi A, Gallego-Duran R, Fischer
J, Berg T, Qiao L, Liddle C, Bugianesi E, Romero-Gomez M, George J
and Eslam M.
TITLE Genetic variation in the TLL1 gene is not associated with fibrosis
in patients with metabolic associated fatty liver disease
JOURNAL PLoS One 15 (12), e0243590 (2020)
PUBMED 33306709
REMARK GeneRIF: Genetic variation in the TLL1 gene is not associated with
fibrosis in patients with metabolic associated fatty liver disease.
Publication Status: Online-Only
REFERENCE 6 (residues 1 to 1013)
AUTHORS Uzel MI, Scott IC, Babakhanlou-Chase H, Palamakumbura AH, Pappano
WN, Hong HH, Greenspan DS and Trackman PC.
TITLE Multiple bone morphogenetic protein 1-related mammalian
metalloproteinases process pro-lysyl oxidase at the correct
physiological site and control lysyl oxidase activation in mouse
embryo fibroblast cultures
JOURNAL J Biol Chem 276 (25), 22537-22543 (2001)
PUBMED 11313359
REFERENCE 7 (residues 1 to 1013)
AUTHORS Scott IC, Imamura Y, Pappano WN, Troedel JM, Recklies AD, Roughley
PJ and Greenspan DS.
TITLE Bone morphogenetic protein-1 processes probiglycan
JOURNAL J Biol Chem 275 (39), 30504-30511 (2000)
PUBMED 10896944
REFERENCE 8 (residues 1 to 1013)
AUTHORS Scott IC, Blitz IL, Pappano WN, Imamura Y, Clark TG, Steiglitz BM,
Thomas CL, Maas SA, Takahara K, Cho KW and Greenspan DS.
TITLE Mammalian BMP-1/Tolloid-related metalloproteinases, including novel
family member mammalian Tolloid-like 2, have differential enzymatic
activities and distributions of expression relevant to patterning
and skeletogenesis
JOURNAL Dev Biol 213 (2), 283-300 (1999)
PUBMED 10479448
REFERENCE 9 (residues 1 to 1013)
AUTHORS Scott IC, Clark TG, Takahara K, Hoffman GG, Eddy RL, Haley LL,
Shows TB and Greenspan DS.
TITLE Assignment of TLL1 and TLL2, which encode human
BMP-1/Tolloid-related metalloproteases, to chromosomes 4q32-->q33
and 10q23-->q24 and assignment of murine Tll2 to chromosome 19
JOURNAL Cytogenet Cell Genet 86 (1), 64-65 (1999)
PUBMED 10516436
REFERENCE 10 (residues 1 to 1013)
AUTHORS Takahara K, Brevard R, Hoffman GG, Suzuki N and Greenspan DS.
TITLE Characterization of a novel gene product (mammalian tolloid-like)
with high sequence similarity to mammalian tolloid/bone
morphogenetic protein-1
JOURNAL Genomics 34 (2), 157-165 (1996)
PUBMED 8661043
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC097502.3, U91963.1,
AC097507.2, AC093874.3, BC144085.1, AF282732.1, AK021908.1 and
BU753788.1.
This sequence is a reference standard in the RefSeqGene project.
On Aug 29, 2002 this sequence version replaced NP_036596.2.
Summary: This gene encodes an astacin-like, zinc-dependent,
metalloprotease that belongs to the peptidase M12A family. This
protease processes procollagen C-propeptides, such as chordin,
pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that
this gene plays multiple roles in the development of mammalian
heart, and is essential for the formation of the interventricular
septum. Allelic variants of this gene are associated with atrial
septal defect type 6. Alternatively spliced transcript variants
encoding different isoforms have been found for this gene.
[provided by RefSeq, Mar 2011].
Transcript Variant: This variant (1) encodes the longer isoform
(1).
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR1803613.51262.1,
SRR1803617.258053.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1965299, SAMEA1968540
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000061240.7/ ENSP00000061240.2
RefSeq Select criteria :: based on conservation, expression,
longest protein
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..1013
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="4"
/map="4q32.3"
Protein 1..1013
/product="tolloid-like protein 1 isoform 1 precursor"
/EC_number="3.4.24.-"
/note="tolloid-like protein 1"
/calculated_mol_wt=111500
sig_peptide 1..30
/calculated_mol_wt=3227
mat_peptide 31..1013
/product="tolloid-like protein 1 isoform 1"
/calculated_mol_wt=111500
Region 148..347
/region_name="ZnMc_BMP1_TLD"
/note="Zinc-dependent metalloprotease; BMP1/TLD-like
subfamily. BMP1 (Bone morphogenetic protein 1) and TLD
(tolloid)-like metalloproteases play vital roles in
extracellular matrix formation, by cleaving precursor
proteins such as enzymes, structural proteins; cd04281"
/db_xref="CDD:239808"
Site 169
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (O43897.1)"
Site order(240..241,244,250)
/site_type="active"
/db_xref="CDD:239808"
Region 349..458
/region_name="CUB"
/note="CUB domain; pfam00431"
/db_xref="CDD:395345"
Site order(357,359,361,388,393,431,455,457,459..460)
/site_type="other"
/note="heterodimerization interface [polypeptide binding]"
/db_xref="CDD:238001"
Site 359
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (O43897.1)"
Site 390
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (O43897.1)"
Region 462..571
/region_name="CUB"
/note="CUB domain; pfam00431"
/db_xref="CDD:395345"
Site order(470,472,474,501,506,544,568,570,572)
/site_type="other"
/note="heterodimerization interface [polypeptide binding]"
/db_xref="CDD:238001"
Region 582..614
/region_name="FXa_inhibition"
/note="Coagulation Factor Xa inhibitory site; pfam14670"
/db_xref="CDD:434114"
Region 618..727
/region_name="CUB"
/note="CUB domain; pfam00431"
/db_xref="CDD:395345"
Site order(626,628,630,657,662,700,724,726,728..729)
/site_type="other"
/note="heterodimerization interface [polypeptide binding]"
/db_xref="CDD:238001"
Site 626
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000255; propagated from
UniProtKB/Swiss-Prot (O43897.1)"
Region 734..769
/region_name="FXa_inhibition"
/note="Coagulation Factor Xa inhibitory site; pfam14670"
/db_xref="CDD:434114"
Region 774..883
/region_name="CUB"
/note="CUB domain; pfam00431"
/db_xref="CDD:395345"
Site order(782,784,786,813,818,856,880,882,884..885)
/site_type="other"
/note="heterodimerization interface [polypeptide binding]"
/db_xref="CDD:238001"
Region 887..1000
/region_name="CUB"
/note="CUB domain; pfam00431"
/db_xref="CDD:395345"
Site order(897,899,901,930,935,973,997,999,1001..1002)
/site_type="other"
/note="heterodimerization interface [polypeptide binding]"
/db_xref="CDD:238001"
CDS 1..1013
/gene="TLL1"
/gene_synonym="ASD6; TLL"
/coded_by="NM_012464.5:669..3710"
/note="isoform 1 precursor is encoded by transcript
variant 1"
/db_xref="CCDS:CCDS3811.1"
/db_xref="GeneID:7092"
/db_xref="HGNC:HGNC:11843"
/db_xref="MIM:606742"
ORIGIN
1 mglgtlsprm lvwlvasgiv fygelwvcag ldydytfdgn eedktetidy kdpckaavfw
61 gdialddedl nifqidrtid ltqnpfgnlg httgglgdha mskkrgalyq lidrirrigf
121 gleqnntvkg kvplqfsgqn eknrvpraat srteriwpgg vipyviggnf tgsqramfkq
181 amrhwekhtc vtfiersdee syivftyrpc gccsyvgrrg ngpqaisigk ncdkfgivvh
241 elghvigfwh ehtrpdrdnh vtiireniqp gqeynflkme pgevnslger ydfdsimhya
301 rntfsrgmfl dtilpsrddn girpaigqrt rlskgdiaqa rklyrcpacg etlqesngnl
361 sspgfpngyp sythciwrvs vtpgekivln fttmdlykss lcwydyievr dgywrkspll
421 grfcgdklpe vltstdsrmw iefrsssnwv gkgfaavyea icggeirkne gqiqspnypd
481 dyrpmkecvw kitvsesyhv gltfqsfeie rhdncaydyl evrdgtsens pligrfcgyd
541 kpedirstsn tlwmkfvsdg tvnkagfaan ffkeedecak pdrggceqrc lntlgsyqca
601 cepgyelgpd rrsceaacgg lltklngtit tpgwpkeypp nkncvwqvva ptqyrisvkf
661 effelegnev ckydyveiws glssesklhg kfcgaevpev itsqfnnmri efksdntvsk
721 kgfkahffsd kdecskdngg cqhecvntmg symcqcrngf vlhdnkhdck eaeceqkihs
781 psglitspnw pdkypsrkec tweisatpgh riklafsefe ieqhqecayd hlevfdgete
841 kspilgrlcg nkipdplvat gnkmfvrfvs dasvqrkgfq athstecggr lkaeskprdl
901 yshaqfgdnn ypgqvdcewl lvsergsrle lsfqtfevee eadcgydyve lfdgldstav
961 glgrfcgsgp peeiysigds vlihfhtddt inkkgfhiry ksirypdtth tkk
//
