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Protein

Tolloid-like protein 1

Gene

TLL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis.

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+PROSITE-ProRule annotationNote: Binds 1 zinc ion per subunit.PROSITE-ProRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi240Zinc; via tele nitrogen; catalyticPROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei241PROSITE-ProRule annotation1
Metal bindingi244Zinc; via tele nitrogen; catalyticPROSITE-ProRule annotation1
Metal bindingi250Zinc; via tele nitrogen; catalyticPROSITE-ProRule annotation1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • extracellular matrix disassembly Source: Reactome
  • skeletal system development Source: ProtInc

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, Hydrolase, Metalloprotease, Protease
Biological processDifferentiation
LigandCalcium, Metal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2214320 Anchoring fibril formation
R-HSA-2243919 Crosslinking of collagen fibrils

Protein family/group databases

MEROPS protease database

More...
MEROPSi
M12.016

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Tolloid-like protein 1 (EC:3.4.24.-)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TLL1
Synonyms:TLL
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000038295.7

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11843 TLL1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606742 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43897

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Atrial septal defect 6 (ASD6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.
See also OMIM:613087
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_062519182M → L in ASD6. 1 PublicationCorresponds to variant dbSNP:rs137852951EnsemblClinVar.1
Natural variantiVAR_062520238V → A in ASD6. 1 PublicationCorresponds to variant dbSNP:rs137852952EnsemblClinVar.1
Natural variantiVAR_062521629I → V in ASD6. 1 PublicationCorresponds to variant dbSNP:rs137852953EnsemblClinVar.1

Keywords - Diseasei

Atrial septal defect, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
7092

MalaCards human disease database

More...
MalaCardsi
TLL1
MIMi613087 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000038295

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99106 Atrial septal defect, ostium primum type
99103 Atrial septal defect, ostium secundum type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36545

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TLL1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 30Sequence analysisAdd BLAST30
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000004602331 – 147Sequence analysisAdd BLAST117
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_0000046024148 – 1013Tolloid-like protein 1Add BLAST866

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi169N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi190 ↔ 346PROSITE-ProRule annotation1 Publication
Disulfide bondi210 ↔ 232PROSITE-ProRule annotation
Disulfide bondi212 ↔ 213PROSITE-ProRule annotation
Disulfide bondi349 ↔ 375By similarity
Glycosylationi359N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi390N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi402 ↔ 424By similarity
Disulfide bondi462 ↔ 488By similarity
Disulfide bondi515 ↔ 537By similarity
Disulfide bondi578 ↔ 590By similarity
Disulfide bondi586 ↔ 599By similarity
Disulfide bondi601 ↔ 614By similarity
Disulfide bondi618 ↔ 644By similarity
Glycosylationi626N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi671 ↔ 693By similarity
Disulfide bondi734 ↔ 745By similarity
Disulfide bondi741 ↔ 754By similarity
Disulfide bondi756 ↔ 769By similarity
Disulfide bondi774 ↔ 800By similarity
Disulfide bondi827 ↔ 849By similarity
Disulfide bondi887 ↔ 917By similarity
Disulfide bondi944 ↔ 966By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O43897

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O43897

PeptideAtlas

More...
PeptideAtlasi
O43897

PRoteomics IDEntifications database

More...
PRIDEi
O43897

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49221
49222 [O43897-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1819

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43897

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O43897

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000038295 Expressed in 94 organ(s), highest expression level in secondary oocyte

CleanEx database of gene expression profiles

More...
CleanExi
HS_TLL1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43897 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43897 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA060767

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112947, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000061240

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11013
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O43897

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O43897

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O43897

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini148 – 347Peptidase M12APROSITE-ProRule annotationAdd BLAST200
Domaini349 – 461CUB 1PROSITE-ProRule annotationAdd BLAST113
Domaini462 – 574CUB 2PROSITE-ProRule annotationAdd BLAST113
Domaini574 – 615EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini618 – 730CUB 3PROSITE-ProRule annotationAdd BLAST113
Domaini730 – 770EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini774 – 886CUB 4PROSITE-ProRule annotationAdd BLAST113
Domaini887 – 1003CUB 5PROSITE-ProRule annotationAdd BLAST117

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3714 Eukaryota
ENOG410ZPX7 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157225

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000236339

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG004859

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O43897

KEGG Orthology (KO)

More...
KOi
K09608

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O43897

TreeFam database of animal gene trees

More...
TreeFami
TF314351

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00041 CUB, 5 hits
cd04281 ZnMc_BMP1_TLD, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.120.290, 5 hits
3.40.390.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR015446 BMP_1/tolloid-like
IPR000859 CUB_dom
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR024079 MetalloPept_cat_dom_sf
IPR001506 Peptidase_M12A
IPR006026 Peptidase_Metallo
IPR035914 Sperma_CUB_dom_sf
IPR034036 ZnMP_TLD/BMP1

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01400 Astacin, 1 hit
PF00431 CUB, 5 hits
PF07645 EGF_CA, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF001199 BMP_1/tolloid-like, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00480 ASTACIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00042 CUB, 5 hits
SM00181 EGF, 2 hits
SM00179 EGF_CA, 2 hits
SM00235 ZnMc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49854 SSF49854, 5 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51864 ASTACIN, 1 hit
PS01180 CUB, 5 hits
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 2 hits
PS01187 EGF_CA, 2 hits
PS00142 ZINC_PROTEASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43897-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGLGTLSPRM LVWLVASGIV FYGELWVCAG LDYDYTFDGN EEDKTETIDY
60 70 80 90 100
KDPCKAAVFW GDIALDDEDL NIFQIDRTID LTQNPFGNLG HTTGGLGDHA
110 120 130 140 150
MSKKRGALYQ LIDRIRRIGF GLEQNNTVKG KVPLQFSGQN EKNRVPRAAT
160 170 180 190 200
SRTERIWPGG VIPYVIGGNF TGSQRAMFKQ AMRHWEKHTC VTFIERSDEE
210 220 230 240 250
SYIVFTYRPC GCCSYVGRRG NGPQAISIGK NCDKFGIVVH ELGHVIGFWH
260 270 280 290 300
EHTRPDRDNH VTIIRENIQP GQEYNFLKME PGEVNSLGER YDFDSIMHYA
310 320 330 340 350
RNTFSRGMFL DTILPSRDDN GIRPAIGQRT RLSKGDIAQA RKLYRCPACG
360 370 380 390 400
ETLQESNGNL SSPGFPNGYP SYTHCIWRVS VTPGEKIVLN FTTMDLYKSS
410 420 430 440 450
LCWYDYIEVR DGYWRKSPLL GRFCGDKLPE VLTSTDSRMW IEFRSSSNWV
460 470 480 490 500
GKGFAAVYEA ICGGEIRKNE GQIQSPNYPD DYRPMKECVW KITVSESYHV
510 520 530 540 550
GLTFQSFEIE RHDNCAYDYL EVRDGTSENS PLIGRFCGYD KPEDIRSTSN
560 570 580 590 600
TLWMKFVSDG TVNKAGFAAN FFKEEDECAK PDRGGCEQRC LNTLGSYQCA
610 620 630 640 650
CEPGYELGPD RRSCEAACGG LLTKLNGTIT TPGWPKEYPP NKNCVWQVVA
660 670 680 690 700
PTQYRISVKF EFFELEGNEV CKYDYVEIWS GLSSESKLHG KFCGAEVPEV
710 720 730 740 750
ITSQFNNMRI EFKSDNTVSK KGFKAHFFSD KDECSKDNGG CQHECVNTMG
760 770 780 790 800
SYMCQCRNGF VLHDNKHDCK EAECEQKIHS PSGLITSPNW PDKYPSRKEC
810 820 830 840 850
TWEISATPGH RIKLAFSEFE IEQHQECAYD HLEVFDGETE KSPILGRLCG
860 870 880 890 900
NKIPDPLVAT GNKMFVRFVS DASVQRKGFQ ATHSTECGGR LKAESKPRDL
910 920 930 940 950
YSHAQFGDNN YPGQVDCEWL LVSERGSRLE LSFQTFEVEE EADCGYDYVE
960 970 980 990 1000
LFDGLDSTAV GLGRFCGSGP PEEIYSIGDS VLIHFHTDDT INKKGFHIRY
1010
KSIRYPDTTH TKK
Length:1,013
Mass (Da):114,709
Last modified:June 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0FDDB6E8E9032DCC
GO
Isoform 2 (identifier: O43897-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     387-392: IVLNFT → VVFSLC
     393-1013: Missing.

Note: No experimental confirmation available.
Show »
Length:392
Mass (Da):44,186
Checksum:iB240EB78AD353BFE
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PD25E9PD25_HUMAN
Metalloendopeptidase
TLL1
1,036Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RAK5D6RAK5_HUMAN
Tolloid-like protein 1
TLL1
57Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RBI6D6RBI6_HUMAN
Tolloid-like protein 1
TLL1
130Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RCE0D6RCE0_HUMAN
Tolloid-like protein 1
TLL1
110Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti156I → V in AAF86287 (Ref. 2) Curated1
Sequence conflicti221N → S in AAF86287 (Ref. 2) Curated1
Sequence conflicti284V → A in AAF86287 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062519182M → L in ASD6. 1 PublicationCorresponds to variant dbSNP:rs137852951EnsemblClinVar.1
Natural variantiVAR_062520238V → A in ASD6. 1 PublicationCorresponds to variant dbSNP:rs137852952EnsemblClinVar.1
Natural variantiVAR_062521629I → V in ASD6. 1 PublicationCorresponds to variant dbSNP:rs137852953EnsemblClinVar.1
Natural variantiVAR_036142688L → V in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_051585958T → A. Corresponds to variant dbSNP:rs2291822Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_017197387 – 392IVLNFT → VVFSLC in isoform 2. 1 Publication6
Alternative sequenceiVSP_017198393 – 1013Missing in isoform 2. 1 PublicationAdd BLAST621

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U91963 mRNA Translation: AAB93878.1
AF282732 mRNA Translation: AAF86287.1
CH471056 Genomic DNA Translation: EAX04813.1
BC016922 mRNA Translation: AAH16922.1
BC136429 mRNA Translation: AAI36430.1
BC136430 mRNA Translation: AAI36431.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3811.1 [O43897-1]
CCDS56342.1 [O43897-2]

NCBI Reference Sequences

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RefSeqi
NP_001191689.1, NM_001204760.1 [O43897-2]
NP_036596.3, NM_012464.4 [O43897-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.106513

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000061240; ENSP00000061240; ENSG00000038295 [O43897-1]
ENST00000513213; ENSP00000422937; ENSG00000038295 [O43897-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
7092

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:7092

UCSC genome browser

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UCSCi
uc003irh.3 human [O43897-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U91963 mRNA Translation: AAB93878.1
AF282732 mRNA Translation: AAF86287.1
CH471056 Genomic DNA Translation: EAX04813.1
BC016922 mRNA Translation: AAH16922.1
BC136429 mRNA Translation: AAI36430.1
BC136430 mRNA Translation: AAI36431.1
CCDSiCCDS3811.1 [O43897-1]
CCDS56342.1 [O43897-2]
RefSeqiNP_001191689.1, NM_001204760.1 [O43897-2]
NP_036596.3, NM_012464.4 [O43897-1]
UniGeneiHs.106513

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3EDIX-ray1.40A148-348[»]
ProteinModelPortaliO43897
SMRiO43897
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112947, 3 interactors
STRINGi9606.ENSP00000061240

Protein family/group databases

MEROPSiM12.016

PTM databases

GlyConnecti1819
iPTMnetiO43897
PhosphoSitePlusiO43897

Polymorphism and mutation databases

BioMutaiTLL1

Proteomic databases

MaxQBiO43897
PaxDbiO43897
PeptideAtlasiO43897
PRIDEiO43897
ProteomicsDBi49221
49222 [O43897-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000061240; ENSP00000061240; ENSG00000038295 [O43897-1]
ENST00000513213; ENSP00000422937; ENSG00000038295 [O43897-2]
GeneIDi7092
KEGGihsa:7092
UCSCiuc003irh.3 human [O43897-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7092
DisGeNETi7092
EuPathDBiHostDB:ENSG00000038295.7

GeneCards: human genes, protein and diseases

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GeneCardsi
TLL1
HGNCiHGNC:11843 TLL1
HPAiHPA060767
MalaCardsiTLL1
MIMi606742 gene
613087 phenotype
neXtProtiNX_O43897
OpenTargetsiENSG00000038295
Orphaneti99106 Atrial septal defect, ostium primum type
99103 Atrial septal defect, ostium secundum type
PharmGKBiPA36545

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3714 Eukaryota
ENOG410ZPX7 LUCA
GeneTreeiENSGT00940000157225
HOGENOMiHOG000236339
HOVERGENiHBG004859
InParanoidiO43897
KOiK09608
PhylomeDBiO43897
TreeFamiTF314351

Enzyme and pathway databases

ReactomeiR-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2214320 Anchoring fibril formation
R-HSA-2243919 Crosslinking of collagen fibrils

Miscellaneous databases

EvolutionaryTraceiO43897

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TLL1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
7092

Protein Ontology

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PROi
PR:O43897

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000038295 Expressed in 94 organ(s), highest expression level in secondary oocyte
CleanExiHS_TLL1
ExpressionAtlasiO43897 baseline and differential
GenevisibleiO43897 HS

Family and domain databases

CDDicd00041 CUB, 5 hits
cd04281 ZnMc_BMP1_TLD, 1 hit
Gene3Di2.60.120.290, 5 hits
3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR015446 BMP_1/tolloid-like
IPR000859 CUB_dom
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR024079 MetalloPept_cat_dom_sf
IPR001506 Peptidase_M12A
IPR006026 Peptidase_Metallo
IPR035914 Sperma_CUB_dom_sf
IPR034036 ZnMP_TLD/BMP1
PfamiView protein in Pfam
PF01400 Astacin, 1 hit
PF00431 CUB, 5 hits
PF07645 EGF_CA, 1 hit
PIRSFiPIRSF001199 BMP_1/tolloid-like, 1 hit
PRINTSiPR00480 ASTACIN
SMARTiView protein in SMART
SM00042 CUB, 5 hits
SM00181 EGF, 2 hits
SM00179 EGF_CA, 2 hits
SM00235 ZnMc, 1 hit
SUPFAMiSSF49854 SSF49854, 5 hits
PROSITEiView protein in PROSITE
PS51864 ASTACIN, 1 hit
PS01180 CUB, 5 hits
PS01186 EGF_2, 2 hits
PS50026 EGF_3, 2 hits
PS01187 EGF_CA, 2 hits
PS00142 ZINC_PROTEASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTLL1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43897
Secondary accession number(s): B2RMU2, Q96AN3, Q9NQS4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 7, 2006
Last sequence update: June 1, 1998
Last modified: December 5, 2018
This is version 142 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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