Q6KCD5 (NIPBL_MOUSE) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 80.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Nipped-B-like protein Alternative name(s): Delangin homolog SCC2 homolog | ||
| Gene names |
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| Organism | Mus musculus (Mouse) [Reference proteome] | ||
| Taxonomic identifier | 10090 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus![]() |
Protein attributes
| Sequence length | 2798 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Probably plays a structural role in chromatin. Involved in sister chromatid cohesion, possibly by interacting with the cohesin complex By similarity. |
| Subcellular location | Nucleus By similarity. |
| Developmental stage | Widely expressed at E9.5 and E10.5, with notable accumulations in limb bud, branchial arch and craniofacial mesenchyme. These regions are involved in patterning of the skeleton and soft tissues of the limbs, jaw and face. Ref.4 |
| Sequence similarities | Belongs to the SCC2/Nipped-B family. Contains 5 HEAT repeats. |
Ontologies
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6KCD5-1) 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. | ||||||
| Isoform 2 (identifier: Q6KCD5-2) The sequence of this isoform differs from the canonical sequence as follows: 2678-2691: SLRRSKRNSDSTEL → VRRRRSQRISQRIT 2692-2798: Missing. | ||||||
| Isoform 3 (identifier: Q6KCD5-3) The sequence of this isoform differs from the canonical sequence as follows: 1-2694: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q6KCD5-4) The sequence of this isoform differs from the canonical sequence as follows: 1-263: Missing. 499-556: DKPLKKRKQD...QAGRVDSQAS → GKGPLSLLLQ...NYITLFELLY 557-2798: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2798 | 2798 | Nipped-B-like protein | PRO_0000218597 | |||||
Regions | |||||||||
| Repeat | 1761 – 1799 | 39 | HEAT 1 | ||||||
| Repeat | 1837 – 1875 | 39 | HEAT 2 | ||||||
| Repeat | 1939 – 1978 | 40 | HEAT 3 | ||||||
| Repeat | 2221 – 2261 | 41 | HEAT 4 | ||||||
| Repeat | 2307 – 2345 | 39 | HEAT 5 | ||||||
| Compositional bias | 418 – 462 | 45 | Gln-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 150 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 162 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 256 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 280 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 306 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 318 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 350 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 553 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 558 | 1 | Phosphothreonine Ref.7 | ||||||
| Modified residue | 713 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 746 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 906 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1083 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1084 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1090 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1144 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1146 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1148 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1154 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1452 | 1 | Phosphothreonine Ref.8 | ||||||
| Modified residue | 1453 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 2503 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2505 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2507 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2509 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2652 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 2661 | 1 | Phosphothreonine Ref.6 | ||||||
| Modified residue | 2666 | 1 | Phosphoserine Ref.5 Ref.6 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 2694 | 2694 | Missing in isoform 3. | VSP_011094 | |||||
| Alternative sequence | 1 – 263 | 263 | Missing in isoform 4. | VSP_011095 | |||||
| Alternative sequence | 499 – 556 | 58 | DKPLK…DSQAS → GKGPLSLLLQHLATCVLIPT SLLRYEFHSLAEASISDLII QYHRLSNLNYITLFELLY in isoform 4. | VSP_011096 | |||||
| Alternative sequence | 557 – 2798 | 2242 | Missing in isoform 4. | VSP_011097 | |||||
| Alternative sequence | 2678 – 2691 | 14 | SLRRS…DSTEL → VRRRRSQRISQRIT in isoform 2. | VSP_011098 | |||||
| Alternative sequence | 2692 – 2798 | 107 | Missing in isoform 2. | VSP_011099 | |||||
Experimental info | |||||||||
| Sequence conflict | 2577 | 1 | K → I in BAC25453. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome." Tonkin E.T., Wang T.-J., Lisgo S., Bamshad M.J., Strachan T. Nat. Genet. 36:636-641(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Strain: C57BL/6J. |
| [2] | "The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. Hayashizaki Y.Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-325, NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2575-2798 (ISOFORM 2). Strain: C57BL/6J. Tissue: Testis. |
| [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 3). Strain: C57BL/6. Tissue: Brain. |
| [4] | "Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B." Krantz I.D., McCallum J., DeScipio C., Kaur M., Gillis L.A., Yaeger D., Jukofsky L., Wasserman N., Bottani A., Morris C.A., Nowaczyk M.J.M., Toriello H., Bamshad M.J., Carey J.C., Rappaport E., Kawauchi S., Lander A.D., Calof A.L. Jackson L.G.Nat. Genet. 36:631-635(2004) [PubMed] [Europe PMC] [Abstract] Cited for: DEVELOPMENTAL STAGE. |
| [5] | "Protein phosphorylation and expression profiling by Yin-yang multidimensional liquid chromatography (Yin-yang MDLC) mass spectrometry." Dai J., Jin W.-H., Sheng Q.-H., Shieh C.-H., Wu J.-R., Zeng R. J. Proteome Res. 6:250-262(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2666, MASS SPECTROMETRY. Tissue: Liver. |
| [6] | "Large-scale phosphorylation analysis of mouse liver." Villen J., Beausoleil S.A., Gerber S.A., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 104:1488-1493(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-280; THR-2661 AND SER-2666, MASS SPECTROMETRY. Tissue: Liver. |
| [7] | "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-553 AND THR-558, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [8] | "The phagosomal proteome in interferon-gamma-activated macrophages." Trost M., English L., Lemieux S., Courcelles M., Desjardins M., Thibault P. Immunity 30:143-154(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1452; SER-1453 AND SER-2652, MASS SPECTROMETRY. Tissue: Macrophage. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ627033 mRNA. Translation: CAF25291.1. AJ640138 mRNA. Translation: CAG26692.1. AK014915 mRNA. Translation: BAC25453.1. AK016861 mRNA. Translation: BAB30471.1. AK049588 mRNA. Translation: BAC33829.1. BC055787 mRNA. Translation: AAH55787.1. |
| IPI | IPI00357096. IPI00377849. IPI00380342. IPI00421052. |
| RefSeq | NP_081983.2. NM_027707.2. NP_957684.1. NM_201232.1. |
| UniGene | Mm.240329. Mm.440537. |
3D structure databases | |
| ProteinModelPortal | Q6KCD5. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-56622N. |
| IntAct | Q6KCD5. 3 interactions. |
PTM databases | |
| PhosphoSite | Q6KCD5. |
Proteomic databases | |
| PaxDb | Q6KCD5. |
| PRIDE | Q6KCD5. |
Protocols and materials databases | |
| DNASU | 71175. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENSMUST00000052965; ENSMUSP00000059385; ENSMUSG00000022141. |
| GeneID | 71175. |
| KEGG | mmu:71175. |
| UCSC | uc007veq.1. mouse. uc007ver.1. mouse. uc007vev.1. mouse. |
Organism-specific databases | |
| CTD | 25836. |
| MGI | MGI:1913976. Nipbl. |
Phylogenomic databases | |
| eggNOG | NOG128278. |
| GeneTree | ENSGT00390000010427. |
| HOGENOM | HOG000113787. |
| HOVERGEN | HBG052626. |
| InParanoid | Q6KCD5. |
| KO | K06672. |
| OMA | HESGDSR. |
| OrthoDB | EOG4001HC. |
Gene expression databases | |
| Bgee | Q6KCD5. |
| CleanEx | MM_NIPBL. |
| Genevestigator | Q6KCD5. |
| GermOnline | ENSMUSG00000022141. Mus musculus. |
Family and domain databases | |
| Gene3D | 1.25.10.10. 4 hits. |
| InterPro | IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR026003. Cohesin_HEAT. IPR024986. Nipped-B_C. [Graphical view] |
| Pfam | PF12765. Cohesin_HEAT. 1 hit. PF12830. Nipped-B_C. 1 hit. [Graphical view] |
| SUPFAM | SSF48371. ARM-type_fold. 1 hit. |
| PROSITE | PS50077. HEAT_REPEAT. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 333221. |
| SOURCE | Search... |
Entry information
| Entry name | NIPBL_MOUSE | ||||||||
| Accession | Primary (citable) accession number: Q6KCD5 Secondary accession number(s): Q6KC78 Q9CUC6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
Relevant documents
| MGD cross-references Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
