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[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND VARIANT SCDO1 ASP-385.
DOI=10.1038/74307; PubMed=10742114 [NCBI, ExPASy, EBI, Israel, Japan]
Bulman M.P.,
Kusumi K.,
Frayling T.M.,
McKeown C.,
Garrett C.,
Lander E.S.,
Krumlauf R.,
Hattersley A.T.,
Ellard S.,
Turnpenny P.D.;
"Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.";
Nat. Genet. 24:438-441(2000).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[3]
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VARIANTS THR-115; GLN-142; CYS-172 AND PRO-218.
DOI=10.1016/j.ajhg.2008.04.014; PubMed=18485326 [NCBI, ExPASy, EBI, Israel, Japan]
Cornier A.S.,
Staehling-Hampton K.,
Delventhal K.M.,
Saga Y.,
Caubet J.-F.,
Sasaki N.,
Ellard S.,
Young E.,
Ramirez N.,
Carlo S.E.,
Torres J.,
Emans J.B.,
Turnpenny P.D.,
Pourquie O.;
"Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.";
Am. J. Hum. Genet. 82:1334-1341(2008).
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- FUNCTION: Inhibits primary neurogenesis. May be required to divert neurons along a specific differentiation pathway. Plays a role in the formation of somite boundaries during segmentation of the paraxial mesoderm (By similarity).
- SUBUNIT: Can bind and activate Notch-1 or another Notch receptor (By similarity).
- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Probable).
- DOMAIN: The DSL domain is required for binding to the Notch receptor.
- PTM: Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation (By similarity).
- DISEASE: Defects in DLL3 are the cause of spondylocostal dysostosis autosomal recessive type 1 (SCDO1) [MIM:277300]. Autosomal recessive spondylocostal dysostosis is a rare condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.
- SIMILARITY: Contains 1 DSL domain.
- SIMILARITY: Contains 6 EGF-like domains.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=DLL3";.
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Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
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| Length: 618 AA [This is the length of the unprocessed precursor] |
Molecular weight: 64618 Da [This is the MW of the unprocessed precursor] |
CRC64: 58A9BC0A7DEAD1A0 [This is a checksum on the sequence] |
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10 20 30 40 50 60
MVSPRMSGLL SQTVILALIF LPQTRPAGVF ELQIHSFGPG PGPGAPRSPC SARLPCRLFF
70 80 90 100 110 120
RVCLKPGLSE EAAESPCALG AALSARGPVY TEQPGAPAPD LPLPDGLLQV PFRDAWPGTF
130 140 150 160 170 180
SFIIETWREE LGDQIGGPAW SLLARVAGRR RLAAGGPWAR DIQRAGAWEL RFSYRARCEP
190 200 210 220 230 240
PAVGTACTRL CRPRSAPSRC GPGLRPCAPL EDECEAPLVC RAGCSPEHGF CEQPGECRCL
250 260 270 280 290 300
EGWTGPLCTV PVSTSSCLSP RGPSSATTGC LVPGPGPCDG NPCANGGSCS ETPRSFECTC
310 320 330 340 350 360
PRGFYGLRCE VSGVTCADGP CFNGGLCVGG ADPDSAYICH CPPGFQGSNC EKRVDRCSLQ
370 380 390 400 410 420
PCRNGGLCLD LGHALRCRCR AGFAGPRCEH DLDDCAGRAC ANGGTCVEGG GAHRCSCALG
430 440 450 460 470 480
FGGRDCRERA DPCAARPCAH GGRCYAHFSG LVCACAPGYM GARCEFPVHP DGASALPAAP
490 500 510 520 530 540
PGLRPGDPQR YLLPPALGLL VAAGVAGAAL LLVHVRRRGH SQDAGSRLLA GTPEPSVHAL
550 560 570 580 590 600
PDALNNLRTQ EGSGDGPSSS VDWNRPEDVD PQGIYVISAP SIYAREVATP LFPPLHTGRA
610
GQRQHLLFPY PSSILSVK
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Q9NYJ7 in FASTA format |
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