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Q86TH1

- ATL2_HUMAN

UniProt

Q86TH1 - ATL2_HUMAN

Protein

ADAMTS-like protein 2

Gene

ADAMTSL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 1 (01 Jun 2003)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. metalloendopeptidase activity Source: InterPro
    2. protein binding Source: BHF-UCL
    3. zinc ion binding Source: InterPro

    GO - Biological processi

    1. negative regulation of transforming growth factor beta receptor signaling pathway Source: BHF-UCL

    Enzyme and pathway databases

    ReactomeiREACT_200626. O-glycosylation of TSR domain-containing proteins.
    SignaLinkiQ86TH1.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ADAMTS-like protein 2
    Short name:
    ADAMTSL-2
    Gene namesi
    Name:ADAMTSL2
    Synonyms:KIAA0605
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:14631. ADAMTSL2.

    Subcellular locationi

    Secreted Curated

    GO - Cellular componenti

    1. proteinaceous extracellular matrix Source: InterPro

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]: An autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti50 – 501W → C in GPHYSD1. 1 Publication
    VAR_066543
    Natural varianti72 – 721R → Q in GPHYSD1. 1 Publication
    VAR_066544
    Natural varianti113 – 1131R → H in GPHYSD1; leads to the reduced secretion of the mutated protein. 1 Publication
    VAR_054874
    Natural varianti114 – 1141E → K in GPHYSD1. 2 Publications
    VAR_054875
    Natural varianti147 – 1471P → L in GPHYSD1; leads to the reduced secretion of the mutated protein. 1 Publication
    VAR_054876
    Natural varianti159 – 1591R → W in GPHYSD1. 1 Publication
    VAR_066545
    Natural varianti165 – 1651A → T in GPHYSD1. 1 Publication
    VAR_066546
    Natural varianti171 – 1711C → R in GPHYSD1. 1 Publication
    VAR_066547
    Natural varianti221 – 2211R → C in GPHYSD1. 1 Publication
    VAR_066548
    Natural varianti239 – 2391A → T in GPHYSD1. 1 Publication
    VAR_066549
    Natural varianti383 – 39210Missing in GPHYSD1.
    VAR_066550
    Natural varianti593 – 5931R → C in GPHYSD1. 1 Publication
    VAR_066551
    Natural varianti635 – 6351S → L in GPHYSD1. 1 Publication
    VAR_066552
    Natural varianti811 – 8111G → R in GPHYSD1; leads to the reduced secretion of the mutated protein. 1 Publication
    VAR_054877
    Natural varianti906 – 9061P → L in GPHYSD1. 1 Publication
    VAR_066553

    Keywords - Diseasei

    Disease mutation, Dwarfism

    Organism-specific databases

    MIMi231050. phenotype.
    Orphaneti2623. Geleophysic dysplasia.
    PharmGKBiPA134920655.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 951929ADAMTS-like protein 2PRO_0000249682Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi59 ↔ 100PROSITE-ProRule annotation
    Disulfide bondi63 ↔ 105PROSITE-ProRule annotation
    Disulfide bondi74 ↔ 90PROSITE-ProRule annotation
    Glycosylationi87 – 871N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi367 – 3671N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi428 – 4281N-linked (GlcNAc...) (complex)1 Publication
    Glycosylationi475 – 4751N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi511 – 5111N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi524 – 5241N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi533 – 5331N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi544 – 5441N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi731 – 7311N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi807 – 8071N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    Glycosylated By similarity. 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, and N-glycosylated. These other glycosylations can also facilitate secretion By similarity.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ86TH1.
    PRIDEiQ86TH1.

    PTM databases

    PhosphoSiteiQ86TH1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ86TH1.
    BgeeiQ86TH1.
    CleanExiHS_ADAMTSL2.
    GenevestigatoriQ86TH1.

    Organism-specific databases

    HPAiHPA045634.

    Interactioni

    Subunit structurei

    Interacts with LTBP1.1 Publication

    Protein-protein interaction databases

    BioGridi115068. 1 interaction.
    IntActiQ86TH1. 2 interactions.
    MINTiMINT-8417703.
    STRINGi9606.ENSP00000346478.

    Structurei

    3D structure databases

    ProteinModelPortaliQ86TH1.
    SMRiQ86TH1. Positions 50-236.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini47 – 10660TSP type-1 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini564 – 61855TSP type-1 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini622 – 68665TSP type-1 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini688 – 73649TSP type-1 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini737 – 79559TSP type-1 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini797 – 85155TSP type-1 6PROSITE-ProRule annotationAdd
    BLAST
    Domaini853 – 90856TSP type-1 7PROSITE-ProRule annotationAdd
    BLAST
    Domaini912 – 95039PLACPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 PLAC domain.PROSITE-ProRule annotation
    Contains 7 TSP type-1 domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG299441.
    HOGENOMiHOG000116076.
    HOVERGENiHBG079685.
    InParanoidiQ86TH1.
    OrthoDBiEOG74N5FZ.
    PhylomeDBiQ86TH1.
    TreeFamiTF316874.

    Family and domain databases

    InterProiIPR010294. ADAM_spacer1.
    IPR013273. Peptidase_M12B_ADAM-TS.
    IPR010909. PLAC.
    IPR000884. Thrombospondin_1_rpt.
    [Graphical view]
    PfamiPF05986. ADAM_spacer1. 1 hit.
    PF08686. PLAC. 1 hit.
    PF00090. TSP_1. 5 hits.
    [Graphical view]
    PRINTSiPR01857. ADAMTSFAMILY.
    SMARTiSM00209. TSP1. 7 hits.
    [Graphical view]
    SUPFAMiSSF82895. SSF82895. 7 hits.
    PROSITEiPS50900. PLAC. 1 hit.
    PS50092. TSP1. 4 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    Q86TH1-1 [UniParc]FASTAAdd to Basket

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    MDGRWQCSCW AWFLLVLAVV AGDTVSTGST DNSPTSNSLE GGTDATAFWW    50
    GEWTKWTACS RSCGGGVTSQ ERHCLQQRRK SVPGPGNRTC TGTSKRYQLC 100
    RVQECPPDGR SFREEQCVSF NSHVYNGRTH QWKPLYPDDY VHISSKPCDL 150
    HCTTVDGQRQ LMVPARDGTS CKLTDLRGVC VSGKCEPIGC DGVLFSTHTL 200
    DKCGICQGDG SSCTHVTGNY RKGNAHLGYS LVTHIPAGAR DIQIVERKKS 250
    ADVLALADEA GYYFFNGNYK VDSPKNFNIA GTVVKYRRPM DVYETGIEYI 300
    VAQGPTNQGL NVMVWNQNGK SPSITFEYTL LQPPHESRPQ PIYYGFSESA 350
    ESQGLDGAGL MGFVPHNGSL YGQASSERLG LDNRLFGHPG LDMELGPSQG 400
    QETNEVCEQA GGGACEGPPR GKGFRDRNVT GTPLTGDKDD EEVDTHFASQ 450
    EFFSANAISD QLLGAGSDLK DFTLNETVNS IFAQGAPRSS LAESFFVDYE 500
    ENEGAGPYLL NGSYLELSSD RVANSSSEAP FPNVSTSLLT SAGNRTHKAR 550
    TRPKARKQGV SPADMYRWKL SSHEPCSATC TTGVMSAYAM CVRYDGVEVD 600
    DSYCDALTRP EPVHEFCAGR ECQPRWETSS WSECSRTCGE GYQFRVVRCW 650
    KMLSPGFDSS VYSDLCEAAE AVRPEERKTC RNPACGPQWE MSEWSECTAK 700
    CGERSVVTRD IRCSEDEKLC DPNTRPVGEK NCTGPPCDRQ WTVSDWGPCS 750
    GSCGQGRTIR HVYCKTSDGR VVPESQCQME TKPLAIHPCG DKNCPAHWLA 800
    QDWERCNTTC GRGVKKRLVL CMELANGKPQ TRSGPECGLA KKPPEESTCF 850
    ERPCFKWYTS PWSECTKTCG VGVRMRDVKC YQGTDIVRGC DPLVKPVGRQ 900
    ACDLQPCPTE PPDDSCQDQP GTNCALAIKV NLCGHWYYSK ACCRSCRPPH 950
    S 951
    Length:951
    Mass (Da):104,621
    Last modified:June 1, 2003 - v1
    Checksum:i93A9B0DC5BAB6CC7
    GO

    Sequence cautioni

    The sequence BAA25531.2 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti59 – 591C → F in BAA25531. (PubMed:9628581)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti50 – 501W → C in GPHYSD1. 1 Publication
    VAR_066543
    Natural varianti72 – 721R → Q in GPHYSD1. 1 Publication
    VAR_066544
    Natural varianti113 – 1131R → H in GPHYSD1; leads to the reduced secretion of the mutated protein. 1 Publication
    VAR_054874
    Natural varianti114 – 1141E → K in GPHYSD1. 2 Publications
    VAR_054875
    Natural varianti147 – 1471P → L in GPHYSD1; leads to the reduced secretion of the mutated protein. 1 Publication
    VAR_054876
    Natural varianti159 – 1591R → W in GPHYSD1. 1 Publication
    VAR_066545
    Natural varianti165 – 1651A → T in GPHYSD1. 1 Publication
    VAR_066546
    Natural varianti171 – 1711C → R in GPHYSD1. 1 Publication
    VAR_066547
    Natural varianti221 – 2211R → C in GPHYSD1. 1 Publication
    VAR_066548
    Natural varianti239 – 2391A → T in GPHYSD1. 1 Publication
    VAR_066549
    Natural varianti364 – 3641V → I.1 Publication
    Corresponds to variant rs35767802 [ dbSNP | Ensembl ].
    VAR_046011
    Natural varianti383 – 39210Missing in GPHYSD1.
    VAR_066550
    Natural varianti593 – 5931R → C in GPHYSD1. 1 Publication
    VAR_066551
    Natural varianti635 – 6351S → L in GPHYSD1. 1 Publication
    VAR_066552
    Natural varianti811 – 8111G → R in GPHYSD1; leads to the reduced secretion of the mutated protein. 1 Publication
    VAR_054877
    Natural varianti906 – 9061P → L in GPHYSD1. 1 Publication
    VAR_066553

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB011177 mRNA. Translation: BAA25531.2. Different initiation.
    BX324209, BX629352, BX649571 Genomic DNA. Translation: CAI17317.1.
    BX649571, BX324209, BX629352 Genomic DNA. Translation: CAI18773.1.
    BX629352, BX324209, BX649571 Genomic DNA. Translation: CAI23592.1.
    BC050544 mRNA. Translation: AAH50544.1.
    CCDSiCCDS6976.1.
    PIRiT00260.
    RefSeqiNP_001138792.1. NM_001145320.1.
    NP_055509.2. NM_014694.3.
    XP_005272296.1. XM_005272239.1.
    XP_006717400.1. XM_006717337.1.
    UniGeneiHs.522543.

    Genome annotation databases

    EnsembliENST00000354484; ENSP00000346478; ENSG00000197859.
    ENST00000393060; ENSP00000376780; ENSG00000197859.
    GeneIDi9719.
    KEGGihsa:9719.
    UCSCiuc004cei.3. human.

    Polymorphism databases

    DMDMi74750384.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB011177 mRNA. Translation: BAA25531.2 . Different initiation.
    BX324209 , BX629352 , BX649571 Genomic DNA. Translation: CAI17317.1 .
    BX649571 , BX324209 , BX629352 Genomic DNA. Translation: CAI18773.1 .
    BX629352 , BX324209 , BX649571 Genomic DNA. Translation: CAI23592.1 .
    BC050544 mRNA. Translation: AAH50544.1 .
    CCDSi CCDS6976.1.
    PIRi T00260.
    RefSeqi NP_001138792.1. NM_001145320.1.
    NP_055509.2. NM_014694.3.
    XP_005272296.1. XM_005272239.1.
    XP_006717400.1. XM_006717337.1.
    UniGenei Hs.522543.

    3D structure databases

    ProteinModelPortali Q86TH1.
    SMRi Q86TH1. Positions 50-236.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115068. 1 interaction.
    IntActi Q86TH1. 2 interactions.
    MINTi MINT-8417703.
    STRINGi 9606.ENSP00000346478.

    PTM databases

    PhosphoSitei Q86TH1.

    Polymorphism databases

    DMDMi 74750384.

    Proteomic databases

    PaxDbi Q86TH1.
    PRIDEi Q86TH1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000354484 ; ENSP00000346478 ; ENSG00000197859 .
    ENST00000393060 ; ENSP00000376780 ; ENSG00000197859 .
    GeneIDi 9719.
    KEGGi hsa:9719.
    UCSCi uc004cei.3. human.

    Organism-specific databases

    CTDi 9719.
    GeneCardsi GC09P136397.
    GeneReviewsi ADAMTSL2.
    H-InvDB HIX0170293.
    HGNCi HGNC:14631. ADAMTSL2.
    HPAi HPA045634.
    MIMi 231050. phenotype.
    612277. gene.
    neXtProti NX_Q86TH1.
    Orphaneti 2623. Geleophysic dysplasia.
    PharmGKBi PA134920655.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG299441.
    HOGENOMi HOG000116076.
    HOVERGENi HBG079685.
    InParanoidi Q86TH1.
    OrthoDBi EOG74N5FZ.
    PhylomeDBi Q86TH1.
    TreeFami TF316874.

    Enzyme and pathway databases

    Reactomei REACT_200626. O-glycosylation of TSR domain-containing proteins.
    SignaLinki Q86TH1.

    Miscellaneous databases

    ChiTaRSi ADAMTSL2. human.
    GenomeRNAii 9719.
    NextBioi 36549.
    PROi Q86TH1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q86TH1.
    Bgeei Q86TH1.
    CleanExi HS_ADAMTSL2.
    Genevestigatori Q86TH1.

    Family and domain databases

    InterProi IPR010294. ADAM_spacer1.
    IPR013273. Peptidase_M12B_ADAM-TS.
    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 ]
    PRINTSi PR01857. ADAMTSFAMILY.
    SMARTi SM00209. TSP1. 7 hits.
    [Graphical view ]
    SUPFAMi SSF82895. SSF82895. 7 hits.
    PROSITEi PS50900. PLAC. 1 hit.
    PS50092. TSP1. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-364.
      Tissue: Brain.
    2. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [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].
      Tissue: PNS.
    4. Cited for: GLYCOSYLATION AT ASN-428.
    5. "ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation."
      Le Goff C., Morice-Picard F., Dagoneau N., Wang L.W., Perrot C., Crow Y.J., Bauer F., Flori E., Prost-Squarcioni C., Krakow D., Ge G., Greenspan D.S., Bonnet D., Le Merrer M., Munnich A., Apte S.S., Cormier-Daire V.
      Nat. Genet. 40:1119-1123(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GPHYSD1 HIS-113; LYS-114; LEU-147 AND ARG-811, CHARACTERIZATION OF VARIANTS HIS-113; LEU-147 AND ARG-811, INTERACTION WITH LTBP1.
    6. Cited for: VARIANTS GPHYSD1 CYS-50; GLN-72; LYS-114; TRP-159; THR-165; ARG-171; CYS-221; THR-239; 383-ASN--ASP-392 DEL; CYS-593; LEU-635 AND LEU-906.

    Entry informationi

    Entry nameiATL2_HUMAN
    AccessioniPrimary (citable) accession number: Q86TH1
    Secondary accession number(s): B1B0D5, O60345
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 19, 2006
    Last sequence update: June 1, 2003
    Last modified: October 1, 2014
    This is version 96 of the entry and version 1 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

    Miscellaneous

    There is a significant increase in total and active TGFB1 in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia.

    Caution

    Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and disintegrin-like domains which are typical of that family.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: 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

    Dasty 3