UniProtKB - Q6UY14 (ATL4_HUMAN)
Protein
ADAMTS-like protein 4
Gene
ADAMTSL4
Organism
Homo sapiens (Human)
Status
Functioni
Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.2 Publications
Caution
Although similar to members of the ADAMTS family, it lacks the metalloprotease and disintegrin-like domains which are typical of that family.Curated
GO - Molecular functioni
- identical protein binding Source: IntAct
- metalloendopeptidase activity Source: GO_Central
- protease binding Source: UniProtKB
GO - Biological processi
- apoptotic process Source: UniProtKB-KW
- epithelial cell development Source: Ensembl
- extracellular matrix organization Source: GO_Central
- positive regulation of apoptotic process Source: UniProtKB
Keywordsi
Biological process | Apoptosis |
Enzyme and pathway databases
PathwayCommonsi | Q6UY14 |
Reactomei | R-HSA-5083635, Defective B3GALTL causes Peters-plus syndrome (PpS) R-HSA-5173214, O-glycosylation of TSR domain-containing proteins |
Names & Taxonomyi
Protein namesi | Recommended name: ADAMTS-like protein 4Short name: ADAMTSL-4 Alternative name(s): Thrombospondin repeat-containing protein 1 |
Gene namesi | Name:ADAMTSL4 Synonyms:TSRC1Imported ORF Names:PP1396, UNQ2803/PRO34012 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19706, ADAMTSL4 |
MIMi | 610113, gene |
neXtProti | NX_Q6UY14 |
VEuPathDBi | HostDB:ENSG00000143382.13 |
Subcellular locationi
Extracellular region or secreted
- extracellular matrix 1 Publication
Note: Colocalizes with FMN1 microfibrils in the eye ECM.
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Reactome
Extracellular region or secreted
- extracellular region Source: UniProtKB-KW
Other locations
- collagen-containing extracellular matrix Source: BHF-UCL
- extracellular matrix Source: GO_Central
- interstitial matrix Source: Ensembl
Keywords - Cellular componenti
Extracellular matrix, SecretedPathology & Biotechi
Involvement in diseasei
Ectopia lentis 2, isolated, autosomal recessive (ECTOL2)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.
Related information in OMIMEctopia lentis et pupillae (ECTOLP)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn ocular abnormality characterized by displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions. Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy.
Related information in OMIMOrganism-specific databases
DisGeNETi | 54507 |
GeneReviewsi | ADAMTSL4 |
MalaCardsi | ADAMTSL4 |
MIMi | 225100, phenotype 225200, phenotype |
OpenTargetsi | ENSG00000143382 |
Orphaneti | 1885, Isolated ectopia lentis |
PharmGKBi | PA134879921 |
Miscellaneous databases
Pharosi | Q6UY14, Tbio |
Genetic variation databases
BioMutai | ADAMTSL4 |
DMDMi | 118573317 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 24 | Sequence analysisAdd BLAST | 24 | |
ChainiPRO_0000257966 | 25 – 1074 | ADAMTS-like protein 4Sequence analysisAdd BLAST | 1050 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 490 | N-linked (GlcNAc...) (complex) asparagine2 Publications | 1 | |
Glycosylationi | 773 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
N-glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X2-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs. N- and C-glycosylations can also facilitate secretion (By similarity).By similarity
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q6UY14 |
MassIVEi | Q6UY14 |
PaxDbi | Q6UY14 |
PeptideAtlasi | Q6UY14 |
PRIDEi | Q6UY14 |
ProteomicsDBi | 30475 67693 [Q6UY14-1] 67694 [Q6UY14-2] |
PTM databases
GlyConnecti | 991, 2 N-Linked glycans (1 site) |
GlyGeni | Q6UY14, 14 sites, 3 O-linked glycans (11 sites) |
iPTMneti | Q6UY14 |
PhosphoSitePlusi | Q6UY14 |
Expressioni
Tissue specificityi
Expressed in colon, heart, leukocyte, liver, lung, skeletal muscle, spleen, testis and placenta. Weaker expression in bone marrow, brain tissue, kidney and pancreas. Expression studies in fetal tissues reveal strong expression in heart, kidney, liver, lung and skeletal muscle, but weaker expression in fetal brain and skin.1 Publication
Gene expression databases
Bgeei | ENSG00000143382, Expressed in esophagus and 182 other tissues |
Genevisiblei | Q6UY14, HS |
Organism-specific databases
HPAi | ENSG00000143382, Tissue enriched (placenta) |
Interactioni
Subunit structurei
Interacts with CTSB.
Interacts with FBN1.
2 PublicationsBinary interactionsi
Q6UY14
With | #Exp. | IntAct |
---|---|---|
CTSB [P07858] | 3 | EBI-742002,EBI-715062 |
STK16 [O75716] | 3 | EBI-742002,EBI-749295 |
Hoxa1 [P09022] from Mus musculus. | 3 | EBI-742002,EBI-3957603 |
Lox [P28301] from Mus musculus. | 2 | EBI-742002,EBI-642911 |
ADAMTSL4 - isoform 3 [Q6UY14-3]
GO - Molecular functioni
- identical protein binding Source: IntAct
- protease binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 120002, 214 interactors |
IntActi | Q6UY14, 237 interactors |
MINTi | Q6UY14 |
STRINGi | 9606.ENSP00000358035 |
Miscellaneous databases
RNActi | Q6UY14, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 48 – 93 | TSP type-1 1PROSITE-ProRule annotationAdd BLAST | 46 | |
Domaini | 723 – 782 | TSP type-1 2PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 783 – 842 | TSP type-1 3PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 845 – 909 | TSP type-1 4PROSITE-ProRule annotationAdd BLAST | 65 | |
Domaini | 910 – 969 | TSP type-1 5PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 970 – 1026 | TSP type-1 6PROSITE-ProRule annotationAdd BLAST | 57 | |
Domaini | 1029 – 1066 | PLACPROSITE-ProRule annotationAdd BLAST | 38 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 602 – 664 | Pro-richSequence analysisAdd BLAST | 63 |
Keywords - Domaini
Repeat, SignalPhylogenomic databases
eggNOGi | KOG3538, Eukaryota KOG4597, Eukaryota |
GeneTreei | ENSGT00940000161136 |
HOGENOMi | CLU_000660_6_0_1 |
InParanoidi | Q6UY14 |
OMAi | QICNTIP |
OrthoDBi | 414258at2759 |
PhylomeDBi | Q6UY14 |
TreeFami | TF316874 |
Family and domain databases
Gene3Di | 2.20.100.10, 6 hits |
InterProi | View protein in InterPro IPR010294, ADAM_spacer1 IPR010909, PLAC IPR000884, TSP1_rpt IPR036383, TSP1_rpt_sf |
Pfami | View protein in Pfam PF05986, ADAM_spacer1, 1 hit PF08686, PLAC, 1 hit PF00090, TSP_1, 1 hit |
SMARTi | View protein in SMART SM00209, TSP1, 6 hits |
SUPFAMi | SSF82895, SSF82895, 6 hits |
PROSITEi | View protein in PROSITE PS50900, PLAC, 1 hit PS50092, TSP1, 6 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 11 Publication (identifier: Q6UY14-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MENWTGRPWL YLLLLLSLPQ LCLDQEVLSG HSLQTPTEEG QGPEGVWGPW
60 70 80 90 100
VQWASCSQPC GVGVQRRSRT CQLPTVQLHP SLPLPPRPPR HPEALLPRGQ
110 120 130 140 150
GPRPQTSPET LPLYRTQSRG RGGPLRGPAS HLGREETQEI RAARRSRLRD
160 170 180 190 200
PIKPGMFGYG RVPFALPLHR NRRHPRSPPR SELSLISSRG EEAIPSPTPR
210 220 230 240 250
AEPFSANGSP QTELPPTELS VHTPSPQAEP LSPETAQTEV APRTRPAPLR
260 270 280 290 300
HHPRAQASGT EPPSPTHSLG EGGFFRASPQ PRRPSSQGWA SPQVAGRRPD
310 320 330 340 350
PFPSVPRGRG QQGQGPWGTG GTPHGPRLEP DPQHPGAWLP LLSNGPHASS
360 370 380 390 400
LWSLFAPSSP IPRCSGESEQ LRACSQAPCP PEQPDPRALQ CAAFNSQEFM
410 420 430 440 450
GQLYQWEPFT EVQGSQRCEL NCRPRGFRFY VRHTEKVQDG TLCQPGAPDI
460 470 480 490 500
CVAGRCLSPG CDGILGSGRR PDGCGVCGGD DSTCRLVSGN LTDRGGPLGY
510 520 530 540 550
QKILWIPAGA LRLQIAQLRP SSNYLALRGP GGRSIINGNW AVDPPGSYRA
560 570 580 590 600
GGTVFRYNRP PREEGKGESL SAEGPTTQPV DVYMIFQEEN PGVFYQYVIS
610 620 630 640 650
SPPPILENPT PEPPVPQLQP EILRVEPPLA PAPRPARTPG TLQRQVRIPQ
660 670 680 690 700
MPAPPHPRTP LGSPAAYWKR VGHSACSASC GKGVWRPIFL CISRESGEEL
710 720 730 740 750
DERSCAAGAR PPASPEPCHG TPCPPYWEAG EWTSCSRSCG PGTQHRQLQC
760 770 780 790 800
RQEFGGGGSS VPPERCGHLP RPNITQSCQL RLCGHWEVGS PWSQCSVRCG
810 820 830 840 850
RGQRSRQVRC VGNNGDEVSE QECASGPPQP PSREACDMGP CTTAWFHSDW
860 870 880 890 900
SSKCSAECGT GIQRRSVVCL GSGAALGPGQ GEAGAGTGQS CPTGSRPPDM
910 920 930 940 950
RACSLGPCER TWRWYTGPWG ECSSECGSGT QRRDIICVSK LGTEFNVTSP
960 970 980 990 1000
SNCSHLPRPP ALQPCQGQAC QDRWFSTPWS PCSRSCQGGT QTREVQCLST
1010 1020 1030 1040 1050
NQTLSTRCPP QLRPSRKRPC NSQPCSQRPD DQCKDSSPHC PLVVQARLCV
1060 1070
YPYYTATCCR SCAHVLERSP QDPS
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A669KBE7 | A0A669KBE7_HUMAN | ADAMTS-like protein 4 | ADAMTSL4 | 1,035 | Annotation score: |
Sequence cautioni
The sequence AAG17217 differs from that shown. Reason: Frameshift.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_061918 | 193 | A → P1 PublicationCorresponds to variant dbSNP:rs41317515EnsemblClinVar. | 1 | |
Natural variantiVAR_061919 | 1028 | R → H. Corresponds to variant dbSNP:rs56411234Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055759 | 411 | E → EAPLLPLRHAFFLLPGAGSG DSTG in isoform 3. Curated | 1 | |
Alternative sequenceiVSP_052183 | 854 – 877 | CSAEC…GAALG → VSPEPPAISCILGNHAQDTS AFPA in isoform 2. 2 PublicationsAdd BLAST | 24 | |
Alternative sequenceiVSP_052184 | 878 – 1074 | Missing in isoform 2. 2 PublicationsAdd BLAST | 197 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY358122 mRNA Translation: AAQ88489.1 AL356356 Genomic DNA Translation: CAI15499.1 AL356356 Genomic DNA Translation: CAI15500.2 BC027478 mRNA Translation: AAH27478.2 BC071852 mRNA Translation: AAH71852.1 BC094811 mRNA Translation: AAH94811.1 BC140800 mRNA Translation: AAI40801.1 AF217974 mRNA Translation: AAG17217.1 Frameshift. |
CCDSi | CCDS30852.1 [Q6UY14-2] CCDS72908.1 [Q6UY14-3] CCDS955.1 [Q6UY14-1] |
RefSeqi | NP_001275536.1, NM_001288607.1 NP_001275537.1, NM_001288608.1 [Q6UY14-3] NP_061905.2, NM_019032.5 [Q6UY14-1] NP_079284.2, NM_025008.4 [Q6UY14-2] XP_011507950.1, XM_011509648.2 [Q6UY14-3] XP_016856995.1, XM_017001506.1 [Q6UY14-3] |
Genome annotation databases
Ensembli | ENST00000271643; ENSP00000271643; ENSG00000143382 [Q6UY14-1] ENST00000369038; ENSP00000358034; ENSG00000143382 [Q6UY14-1] ENST00000369039; ENSP00000358035; ENSG00000143382 [Q6UY14-3] ENST00000369041; ENSP00000358037; ENSG00000143382 [Q6UY14-2] ENST00000674043; ENSP00000501295; ENSG00000143382 [Q6UY14-3] |
GeneIDi | 54507 |
KEGGi | hsa:54507 |
UCSCi | uc001euw.5, human [Q6UY14-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY358122 mRNA Translation: AAQ88489.1 AL356356 Genomic DNA Translation: CAI15499.1 AL356356 Genomic DNA Translation: CAI15500.2 BC027478 mRNA Translation: AAH27478.2 BC071852 mRNA Translation: AAH71852.1 BC094811 mRNA Translation: AAH94811.1 BC140800 mRNA Translation: AAI40801.1 AF217974 mRNA Translation: AAG17217.1 Frameshift. |
CCDSi | CCDS30852.1 [Q6UY14-2] CCDS72908.1 [Q6UY14-3] CCDS955.1 [Q6UY14-1] |
RefSeqi | NP_001275536.1, NM_001288607.1 NP_001275537.1, NM_001288608.1 [Q6UY14-3] NP_061905.2, NM_019032.5 [Q6UY14-1] NP_079284.2, NM_025008.4 [Q6UY14-2] XP_011507950.1, XM_011509648.2 [Q6UY14-3] XP_016856995.1, XM_017001506.1 [Q6UY14-3] |
3D structure databases
SMRi | Q6UY14 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120002, 214 interactors |
IntActi | Q6UY14, 237 interactors |
MINTi | Q6UY14 |
STRINGi | 9606.ENSP00000358035 |
PTM databases
GlyConnecti | 991, 2 N-Linked glycans (1 site) |
GlyGeni | Q6UY14, 14 sites, 3 O-linked glycans (11 sites) |
iPTMneti | Q6UY14 |
PhosphoSitePlusi | Q6UY14 |
Genetic variation databases
BioMutai | ADAMTSL4 |
DMDMi | 118573317 |
Proteomic databases
EPDi | Q6UY14 |
MassIVEi | Q6UY14 |
PaxDbi | Q6UY14 |
PeptideAtlasi | Q6UY14 |
PRIDEi | Q6UY14 |
ProteomicsDBi | 30475 67693 [Q6UY14-1] 67694 [Q6UY14-2] |
Protocols and materials databases
Antibodypediai | 1665, 93 antibodies |
DNASUi | 54507 |
Genome annotation databases
Ensembli | ENST00000271643; ENSP00000271643; ENSG00000143382 [Q6UY14-1] ENST00000369038; ENSP00000358034; ENSG00000143382 [Q6UY14-1] ENST00000369039; ENSP00000358035; ENSG00000143382 [Q6UY14-3] ENST00000369041; ENSP00000358037; ENSG00000143382 [Q6UY14-2] ENST00000674043; ENSP00000501295; ENSG00000143382 [Q6UY14-3] |
GeneIDi | 54507 |
KEGGi | hsa:54507 |
UCSCi | uc001euw.5, human [Q6UY14-1] |
Organism-specific databases
CTDi | 54507 |
DisGeNETi | 54507 |
GeneCardsi | ADAMTSL4 |
GeneReviewsi | ADAMTSL4 |
HGNCi | HGNC:19706, ADAMTSL4 |
HPAi | ENSG00000143382, Tissue enriched (placenta) |
MalaCardsi | ADAMTSL4 |
MIMi | 225100, phenotype 225200, phenotype 610113, gene |
neXtProti | NX_Q6UY14 |
OpenTargetsi | ENSG00000143382 |
Orphaneti | 1885, Isolated ectopia lentis |
PharmGKBi | PA134879921 |
VEuPathDBi | HostDB:ENSG00000143382.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3538, Eukaryota KOG4597, Eukaryota |
GeneTreei | ENSGT00940000161136 |
HOGENOMi | CLU_000660_6_0_1 |
InParanoidi | Q6UY14 |
OMAi | QICNTIP |
OrthoDBi | 414258at2759 |
PhylomeDBi | Q6UY14 |
TreeFami | TF316874 |
Enzyme and pathway databases
PathwayCommonsi | Q6UY14 |
Reactomei | R-HSA-5083635, Defective B3GALTL causes Peters-plus syndrome (PpS) R-HSA-5173214, O-glycosylation of TSR domain-containing proteins |
Miscellaneous databases
BioGRID-ORCSi | 54507, 46 hits in 996 CRISPR screens |
ChiTaRSi | ADAMTSL4, human |
GeneWikii | ADAMTSL4 |
GenomeRNAii | 54507 |
Pharosi | Q6UY14, Tbio |
PROi | PR:Q6UY14 |
RNActi | Q6UY14, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000143382, Expressed in esophagus and 182 other tissues |
Genevisiblei | Q6UY14, HS |
Family and domain databases
Gene3Di | 2.20.100.10, 6 hits |
InterProi | View protein in InterPro IPR010294, ADAM_spacer1 IPR010909, PLAC IPR000884, TSP1_rpt IPR036383, TSP1_rpt_sf |
Pfami | View protein in Pfam PF05986, ADAM_spacer1, 1 hit PF08686, PLAC, 1 hit PF00090, TSP_1, 1 hit |
SMARTi | View protein in SMART SM00209, TSP1, 6 hits |
SUPFAMi | SSF82895, SSF82895, 6 hits |
PROSITEi | View protein in PROSITE PS50900, PLAC, 1 hit PS50092, TSP1, 6 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ATL4_HUMAN | |
Accessioni | Q6UY14Primary (citable) accession number: Q6UY14 Secondary accession number(s): B2RTT0 Q9HBS6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | October 31, 2006 | |
Last modified: | April 7, 2021 | |
This is version 158 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot