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Q6UY14

- ATL4_HUMAN

UniProt

Q6UY14 - ATL4_HUMAN

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Protein

ADAMTS-like protein 4

Gene

ADAMTSL4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis.2 Publications

GO - Molecular functioni

  1. metalloendopeptidase activity Source: InterPro
  2. protease binding Source: UniProtKB

GO - Biological processi

  1. apoptotic process Source: UniProtKB-KW
  2. extracellular matrix organization Source: Ensembl
  3. positive regulation of apoptotic process Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Apoptosis

Enzyme and pathway databases

ReactomeiREACT_200626. O-glycosylation of TSR domain-containing proteins.

Names & Taxonomyi

Protein namesi
Recommended name:
ADAMTS-like protein 4
Short name:
ADAMTSL-4
Alternative name(s):
Thrombospondin repeat-containing protein 1
Gene namesi
Name:ADAMTSL4
Synonyms:TSRC1Imported
ORF Names:PP1396, UNQ2803/PRO34012
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:19706. ADAMTSL4.

Subcellular locationi

Secretedextracellular spaceextracellular matrix 1 Publication
Note: Colocalizes with FMN1 microfibrils in the eye ECM.

GO - Cellular componenti

  1. interstitial matrix Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Ectopia lentis 2, isolated, autosomal recessive (ECTOL2) [MIM:225200]: An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Ectopia lentis et pupillae (ECTOLP) [MIM:225200]: An 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Organism-specific databases

MIMi225200. phenotype.
Orphaneti1885. Isolated ectopia lentis.
PharmGKBiPA134879921.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Sequence AnalysisAdd
BLAST
Chaini25 – 10741050ADAMTS-like protein 4Sequence AnalysisPRO_0000257966Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi3 – 31N-linked (GlcNAc...)Sequence Analysis
Glycosylationi490 – 4901N-linked (GlcNAc...) (complex)2 Publications
Glycosylationi773 – 7731N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

N-glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(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

Glycoprotein

Proteomic databases

PaxDbiQ6UY14.
PRIDEiQ6UY14.

PTM databases

PhosphoSiteiQ6UY14.

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

BgeeiQ6UY14.
CleanExiHS_ADAMTSL4.
ExpressionAtlasiQ6UY14. baseline and differential.
GenevestigatoriQ6UY14.

Organism-specific databases

HPAiHPA006279.

Interactioni

Subunit structurei

Interacts with CTSB. Interacts with FBN1.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CTSBP078583EBI-742002,EBI-715062
Hoxa1P090223EBI-742002,EBI-3957603From a different organism.
STK16O757163EBI-742002,EBI-749295

Protein-protein interaction databases

BioGridi120002. 24 interactions.
IntActiQ6UY14. 22 interactions.
MINTiMINT-1445070.
STRINGi9606.ENSP00000271643.

Structurei

3D structure databases

ProteinModelPortaliQ6UY14.
SMRiQ6UY14. Positions 364-548.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini48 – 9346TSP type-1 1PROSITE-ProRule annotationAdd
BLAST
Domaini723 – 78260TSP type-1 2PROSITE-ProRule annotationAdd
BLAST
Domaini783 – 84260TSP type-1 3PROSITE-ProRule annotationAdd
BLAST
Domaini845 – 90965TSP type-1 4PROSITE-ProRule annotationAdd
BLAST
Domaini910 – 96960TSP type-1 5PROSITE-ProRule annotationAdd
BLAST
Domaini970 – 102657TSP type-1 6PROSITE-ProRule annotationAdd
BLAST
Domaini1029 – 106638PLACPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi602 – 66463Pro-richSequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 1 PLAC domain.PROSITE-ProRule annotation
Contains 6 TSP type-1 domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiNOG242665.
GeneTreeiENSGT00760000118885.
HOGENOMiHOG000034174.
HOVERGENiHBG080879.
InParanoidiQ6UY14.
OrthoDBiEOG73FQKT.
PhylomeDBiQ6UY14.
TreeFamiTF316874.

Family and domain databases

InterProiIPR010294. ADAM_spacer1.
IPR010909. PLAC.
IPR000884. Thrombospondin_1_rpt.
[Graphical view]
PfamiPF05986. ADAM_spacer1. 1 hit.
PF08686. PLAC. 1 hit.
PF00090. TSP_1. 5 hits.
[Graphical view]
SMARTiSM00209. TSP1. 6 hits.
[Graphical view]
SUPFAMiSSF82895. SSF82895. 6 hits.
PROSITEiPS50900. PLAC. 1 hit.
PS50092. TSP1. 6 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 11 Publication (identifier: Q6UY14-1) [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
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

Note: Gene prediction confirmed by EST data.Curated

Length:1,074
Mass (Da):116,545
Last modified:October 31, 2006 - v2
Checksum:i79AE0E5DF5488CA1
GO
Isoform 21 Publication (identifier: Q6UY14-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     854-877: CSAECGTGIQRRSVVCLGSGAALG → VSPEPPAISCILGNHAQDTSAFPA
     878-1074: Missing.

Note: No experimental confirmation available.Curated

Show »
Length:877
Mass (Da):95,132
Checksum:iB778D79DB24E4EA9
GO
Isoform 3 (identifier: Q6UY14-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     411-411: E → EAPLLPLRHAFFLLPGAGSGDSTG

Note: No experimental confirmation available.

Show »
Length:1,097
Mass (Da):118,822
Checksum:iF7C5EB712A3EA448
GO

Sequence cautioni

The sequence AAG17217.1 differs from that shown. Reason: Frameshift at position 719. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti193 – 1931A → P.1 Publication
Corresponds to variant rs41317515 [ dbSNP | Ensembl ].
VAR_061918
Natural varianti1028 – 10281R → H.
Corresponds to variant rs56411234 [ dbSNP | Ensembl ].
VAR_061919

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei411 – 4111E → EAPLLPLRHAFFLLPGAGSG DSTG in isoform 3. CuratedVSP_055759
Alternative sequencei854 – 87724CSAEC…GAALG → VSPEPPAISCILGNHAQDTS AFPA in isoform 2. 2 PublicationsVSP_052183Add
BLAST
Alternative sequencei878 – 1074197Missing in isoform 2. 2 PublicationsVSP_052184Add
BLAST

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.
CCDSiCCDS30852.1. [Q6UY14-2]
CCDS72908.1. [Q6UY14-3]
CCDS955.1. [Q6UY14-1]
RefSeqiNP_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]
UniGeneiHs.516243.

Genome annotation databases

EnsembliENST00000271643; ENSP00000271643; ENSG00000143382. [Q6UY14-1]
ENST00000369038; ENSP00000358034; ENSG00000143382. [Q6UY14-1]
ENST00000369039; ENSP00000358035; ENSG00000143382. [Q6UY14-3]
ENST00000369041; ENSP00000358037; ENSG00000143382. [Q6UY14-2]
GeneIDi54507.
KEGGihsa:54507.
UCSCiuc001euw.3. human. [Q6UY14-2]
uc001eux.3. human. [Q6UY14-1]

Polymorphism databases

DMDMi118573317.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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 ]
UniGenei Hs.516243.

3D structure databases

ProteinModelPortali Q6UY14.
SMRi Q6UY14. Positions 364-548.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120002. 24 interactions.
IntActi Q6UY14. 22 interactions.
MINTi MINT-1445070.
STRINGi 9606.ENSP00000271643.

PTM databases

PhosphoSitei Q6UY14.

Polymorphism databases

DMDMi 118573317.

Proteomic databases

PaxDbi Q6UY14.
PRIDEi Q6UY14.

Protocols and materials databases

DNASUi 54507.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000271643 ; ENSP00000271643 ; ENSG00000143382 . [Q6UY14-1 ]
ENST00000369038 ; ENSP00000358034 ; ENSG00000143382 . [Q6UY14-1 ]
ENST00000369039 ; ENSP00000358035 ; ENSG00000143382 . [Q6UY14-3 ]
ENST00000369041 ; ENSP00000358037 ; ENSG00000143382 . [Q6UY14-2 ]
GeneIDi 54507.
KEGGi hsa:54507.
UCSCi uc001euw.3. human. [Q6UY14-2 ]
uc001eux.3. human. [Q6UY14-1 ]

Organism-specific databases

CTDi 54507.
GeneCardsi GC01P150522.
GeneReviewsi ADAMTSL4.
HGNCi HGNC:19706. ADAMTSL4.
HPAi HPA006279.
MIMi 225200. phenotype.
610113. gene.
neXtProti NX_Q6UY14.
Orphaneti 1885. Isolated ectopia lentis.
PharmGKBi PA134879921.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG242665.
GeneTreei ENSGT00760000118885.
HOGENOMi HOG000034174.
HOVERGENi HBG080879.
InParanoidi Q6UY14.
OrthoDBi EOG73FQKT.
PhylomeDBi Q6UY14.
TreeFami TF316874.

Enzyme and pathway databases

Reactomei REACT_200626. O-glycosylation of TSR domain-containing proteins.

Miscellaneous databases

ChiTaRSi ADAMTSL4. human.
GeneWikii ADAMTSL4.
GenomeRNAii 54507.
NextBioi 35468390.
PROi Q6UY14.
SOURCEi Search...

Gene expression databases

Bgeei Q6UY14.
CleanExi HS_ADAMTSL4.
ExpressionAtlasi Q6UY14. baseline and differential.
Genevestigatori Q6UY14.

Family and domain databases

InterProi IPR010294. ADAM_spacer1.
IPR010909. PLAC.
IPR000884. Thrombospondin_1_rpt.
[Graphical view ]
Pfami PF05986. ADAM_spacer1. 1 hit.
PF08686. PLAC. 1 hit.
PF00090. TSP_1. 5 hits.
[Graphical view ]
SMARTi SM00209. TSP1. 6 hits.
[Graphical view ]
SUPFAMi SSF82895. SSF82895. 6 hits.
PROSITEi PS50900. PLAC. 1 hit.
PS50092. TSP1. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 425-1074 (ISOFORM 1), VARIANT PRO-193.
    Tissue: LungImported and Placenta.
  4. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 638-1074.
  5. "TSRC1, a widely expressed gene containing seven thrombospondin type I repeats."
    Buchner D.A., Meisler M.H.
    Gene 307:23-30(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION (ISOFORM 1).
  6. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
    Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
    J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-490.
    Tissue: Plasma.
  7. "Cathepsin B and its interacting proteins, bikunin and TSRC1, correlate with TNF-induced apoptosis of ovarian cancer cells OV-90."
    Liu J., Guo Q., Chen B., Yu Y., Lu H., Li Y.-Y.
    FEBS Lett. 580:245-250(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH CTSB.
  8. "A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis."
    Ahram D., Sato T.S., Kohilan A., Tayeh M., Chen S., Leal S., Al-Salem M., El-Shanti H.
    Am. J. Hum. Genet. 84:274-278(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, INVOLVEMENT IN ECTOL2.
  9. Cited for: GLYCOSYLATION AT ASN-490.
  10. "A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae."
    Christensen A.E., Fiskerstrand T., Knappskog P.M., Boman H., Roedahl E.
    Invest. Ophthalmol. Vis. Sci. 51:6369-6373(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN ECTOLP.
  11. "ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds Fibrillin-1 microfibrils and accelerates microfibril biogenesis."
    Gabriel L.A., Wang L.W., Bader H., Ho J.C., Majors A.K., Hollyfield J.G., Traboulsi E.I., Apte S.S.
    Invest. Ophthalmol. Vis. Sci. 53:461-469(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH FBN1, GLYCOSYLATION.

Entry informationi

Entry nameiATL4_HUMAN
AccessioniPrimary (citable) accession number: Q6UY14
Secondary accession number(s): B2RTT0
, F8WAD0, Q5T5F7, Q6IPM6, Q8N643, Q9HBS6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: October 29, 2014
This is version 101 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

External Data

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