Variant position: 15 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2804 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human MNGDMPHVPITTLA GIASLTDLLNQLPLPSPLPAT
Mouse MNGDMPHVPITTLA GIASLTDLLNQLPLPSPLPAT
Caenorhabditis elegans MDPN---------- ---NLQNSLNGTGNPNFQPVQ
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 2804 Nipped-B-like protein
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D.; Hullings M.; Gil-Rodriguez M.C.; Fincher C.T.; Mallozzi M.B.; Loy E.; Albrecht M.; Kaur M.; Limon J.; Rampuria A.; Clark D.; Kline A.; Dalski A.; Eckhold J.; Tzschach A.; Hennekam R.; Gillessen-Kaesbach G.; Wierzba J.; Krantz I.D.; Deardorff M.A.; Kaiser F.J.;
Eur. J. Hum. Genet. 20:271-276(2012)
Cited for: VARIANTS CDLS1 ARG-15; GLN-29; THR-111; SER-179; THR-179; LEU-192; GLY-246 AND VAL-254; CHARACTERIZATION OF VARIANTS CDLS1 ARG-15; GLN-29; THR-111; SER-179; THR-179; LEU-192; GLY-246 AND VAL-254; INTERACTION WITH SCC4;
Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.
Bot C.; Pfeiffer A.; Giordano F.; Manjeera D.E.; Dantuma N.P.; Stroem L.;
J. Cell Sci. 130:1134-1146(2017)
Cited for: CHARACTERIZATION OF VARIANT CDLS1 ARG-15; FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH SCC4 AND CBX3; MUTAGENESIS OF VAL-1003 AND LEU-1005; MOTIF PXVXL;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.