Q6KC79 (NIPBL_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 110.
History...
Clusters with 
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Nipped-B-like protein Alternative name(s): Delangin SCC2 homolog | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 2804 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. |
| Subunit structure | Interacts directly with CBX5 via the PxVxL motif. Ref.7 Ref.16 |
| Subcellular location | Nucleus By similarity. |
| Tissue specificity | Widely expressed. Highly expressed in heart, skeletal muscle, fetal and adult liver, fetal and adult kidney. Expressed at intermediates level in thymus, placenta, peripheral leukocyte and small intestine. Weakly or not expressed in brain, colon, spleen and lung. Ref.1 Ref.6 |
| Developmental stage | In embryos, it is expressed in developing limbs and later in cartilage primordia of the ulna and of various hand bones. Sites of craniofacial expression include the cartilage primordium of the basioccipital and basisphenoid skull bones and elsewhere in the head and face, including a region encompassing the mesenchyme adjacent to the cochlear canal. Also expressed in the spinal column, notochord and surface ectoderm sclerotome and what seem to be migrating myoblasts. Expressed in the developing heart in the atrial and ventricular myocardium and in the ventricular tubeculae but absent in the endocardial cushions. Also expressed in the developing esophagus, trachea and midgut loops, in the bronchi of the lung and in the tubules of the metanephros. Expression in organs and tissues not typically affected in CDL (e.g. the developing trachea, bronchi, esophagus, heart and kidney) may reflect a bias towards underreporting of more subtle aspects of the phenotype or problems that typically present later in life. Expressed in the mesenchyme surrounding the cochlear canal possibly reflecting the hearing impairment commonly found. Weakly or not expressed in embryonic brain. Ref.1 |
| Domain | Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain. |
| Involvement in disease | Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. |
| Sequence similarities | Belongs to the SCC2/Nipped-B family. Contains 5 HEAT repeats. |
| Sequence caution | The sequence AAH33847.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA77335.1 differs from that shown. Reason: Chimeric cDNA. The sequence BAA77349.1 differs from that shown. Reason: Chimeric cDNA. The sequence BAC86701.1 differs from that shown. Reason: Erroneous initiation. The sequence CAE45790.1 differs from that shown. Reason: Frameshift at position 278. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6KC79-1) Also known as: A; IDN3-A; 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: Q6KC79-2) Also known as: B; IDN3-B; The sequence of this isoform differs from the canonical sequence as follows: 2684-2697: SLRRSKRNSDSTEL → VRRRRSQRISQRIT 2698-2804: Missing. | ||||||
| Note: Contains a phosphothreonine at position 2667. Contains a phosphoserine at position 2672. | ||||||
| Isoform 3 (identifier: Q6KC79-3) The sequence of this isoform differs from the canonical sequence as follows: 1102-2804: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2804 | 2804 | Nipped-B-like protein | PRO_0000218596 | |||||
Regions | |||||||||
| Repeat | 1767 – 1805 | 39 | HEAT 1 | ||||||
| Repeat | 1843 – 1881 | 39 | HEAT 2 | ||||||
| Repeat | 1945 – 1984 | 40 | HEAT 3 | ||||||
| Repeat | 2227 – 2267 | 41 | HEAT 4 | ||||||
| Repeat | 2313 – 2351 | 39 | HEAT 5 | ||||||
| Motif | 996 – 1009 | 14 | PxVxL motif | ||||||
| Compositional bias | 418 – 462 | 45 | Gln-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 150 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 162 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 256 | 1 | Phosphoserine Ref.17 | ||||||
| Modified residue | 280 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 306 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 318 | 1 | Phosphoserine Ref.8 Ref.17 | ||||||
| Modified residue | 350 | 1 | Phosphoserine Ref.12 Ref.17 Ref.19 | ||||||
| Modified residue | 553 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 558 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 713 | 1 | Phosphothreonine Ref.8 | ||||||
| Modified residue | 746 | 1 | Phosphothreonine Ref.8 | ||||||
| Modified residue | 912 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 1089 | 1 | Phosphoserine Ref.12 Ref.14 | ||||||
| Modified residue | 1090 | 1 | Phosphoserine Ref.12 Ref.14 | ||||||
| Modified residue | 1096 | 1 | Phosphoserine Ref.8 Ref.12 Ref.14 Ref.19 | ||||||
| Modified residue | 1150 | 1 | Phosphoserine Ref.12 Ref.14 Ref.19 | ||||||
| Modified residue | 1152 | 1 | Phosphoserine Ref.12 Ref.19 | ||||||
| Modified residue | 1154 | 1 | Phosphoserine Ref.12 Ref.14 Ref.19 | ||||||
| Modified residue | 1160 | 1 | Phosphoserine Ref.12 Ref.14 Ref.19 | ||||||
| Modified residue | 1458 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 1459 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2509 | 1 | Phosphoserine Ref.12 Ref.19 | ||||||
| Modified residue | 2511 | 1 | Phosphoserine Ref.12 Ref.19 | ||||||
| Modified residue | 2513 | 1 | Phosphoserine Ref.12 Ref.19 | ||||||
| Modified residue | 2515 | 1 | Phosphoserine Ref.12 Ref.19 | ||||||
| Modified residue | 2658 | 1 | Phosphoserine Ref.8 Ref.9 Ref.11 Ref.12 Ref.13 Ref.14 Ref.17 Ref.19 | ||||||
| Modified residue | 2667 | 1 | Phosphothreonine Ref.8 Ref.12 Ref.19 | ||||||
| Modified residue | 2672 | 1 | Phosphoserine Ref.12 Ref.17 Ref.19 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1102 – 2804 | 1703 | Missing in isoform 3. | VSP_011091 | |||||
| Alternative sequence | 2684 – 2697 | 14 | SLRRS…DSTEL → VRRRRSQRISQRIT in isoform 2. | VSP_011092 | |||||
| Alternative sequence | 2698 – 2804 | 107 | Missing in isoform 2. | VSP_011093 | |||||
| Natural variant | 135 | 1 | S → N. Corresponds to variant rs3822471 [ dbSNP | Ensembl ]. | VAR_019518 | |||||
| Natural variant | 261 | 1 | S → A. Corresponds to variant rs16903425 [ dbSNP | Ensembl ]. | VAR_038411 | |||||
| Natural variant | 384 | 1 | N → S. Corresponds to variant rs2291703 [ dbSNP | Ensembl ]. | VAR_038412 | |||||
| Natural variant | 674 | 1 | N → S. Ref.20 Corresponds to variant rs3822471 [ dbSNP | Ensembl ]. | VAR_021596 | |||||
| Natural variant | 1206 | 1 | I → V. Ref.20 | VAR_021597 | |||||
| Natural variant | 1206 | 1 | Missing in CDLS1. Ref.1 | VAR_038413 | |||||
| Natural variant | 1246 | 1 | A → G in CDLS1. Ref.20 | VAR_021598 | |||||
| Natural variant | 1311 | 1 | C → R in CDLS1. Ref.1 | VAR_019519 | |||||
| Natural variant | 1312 | 1 | L → P in CDLS1. Ref.20 | VAR_021599 | |||||
| Natural variant | 1348 | 1 | L → R in CDLS1. Ref.1 | VAR_019520 | |||||
| Natural variant | 1647 | 1 | E → K in a breast cancer sample; somatic mutation. Ref.21 | VAR_036164 | |||||
| Natural variant | 1789 | 1 | R → L in CDLS1. Ref.20 | VAR_021600 | |||||
| Natural variant | 1803 | 1 | D → V in CDLS1. Ref.20 | VAR_021601 | |||||
| Natural variant | 1856 | 1 | R → T in CDLS1. Ref.20 | VAR_021602 | |||||
| Natural variant | 1897 | 1 | Missing in CDLS1. Ref.22 | VAR_064544 | |||||
| Natural variant | 2081 | 1 | G → A in CDLS1. Ref.22 | VAR_064545 | |||||
| Natural variant | 2090 | 1 | S → I in CDLS1. Ref.22 | VAR_064546 | |||||
| Natural variant | 2150 | 1 | L → P in CDLS1. Ref.22 | VAR_064547 | |||||
| Natural variant | 2298 | 1 | R → C in CDLS1. Ref.20 | VAR_021603 | |||||
| Natural variant | 2298 | 1 | R → H in CDLS1. Ref.20 | VAR_021604 | |||||
| Natural variant | 2312 | 1 | G → R in CDLS1. Ref.20 | VAR_021605 | |||||
| Natural variant | 2381 | 1 | G → A in CDLS1. Ref.20 | VAR_021606 | |||||
| Natural variant | 2390 | 1 | A → T in CDLS1. Ref.20 | VAR_021607 | |||||
| Natural variant | 2430 | 1 | Y → C in CDLS1. Ref.1 | VAR_019521 | |||||
| Natural variant | 2440 | 1 | Y → H in CDLS1. Ref.20 | VAR_021608 | |||||
Experimental info | |||||||||
| Mutagenesis | 1003 | 1 | V → E: Abolishes interaction with CBX5; when associated with Glu-1005. Ref.16 | ||||||
| Mutagenesis | 1005 | 1 | L → E: Abolishes interaction with CBX5; when associated with Glu-1003. Ref.16 | ||||||
| Sequence conflict | 318 | 1 | S → F Ref.3 | ||||||
| Sequence conflict | 548 | 1 | A → T in CAD98051. Ref.2 | ||||||
| Sequence conflict | 548 | 1 | A → T in CAD98052. Ref.2 | ||||||
| Sequence conflict | 574 | 1 | N → S in CAD98051. Ref.2 | ||||||
| Sequence conflict | 574 | 1 | N → S in CAD98052. Ref.2 | ||||||
| Sequence conflict | 648 | 1 | T → I in CAD98051. Ref.2 | ||||||
| Sequence conflict | 648 | 1 | T → I in CAD98052. Ref.2 | ||||||
| Sequence conflict | 1172 | 1 | M → K in CAD98051. Ref.2 | ||||||
| Sequence conflict | 1172 | 1 | M → K in CAD98052. 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), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANTS CDLS1 ILE-1206 DEL; ARG-1311; ARG-1348 AND CYS-2430. |
| [2] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1175. Tissue: Endometrium. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.  Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 128-2804 (ISOFORM 3). Tissue: Cerebellum. |
| [4] | Aihara T., Yasuo M., Kumiko K., Sasaki Y., Imaoka S., Monden M., Nakamura Y. Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 421-2804 (ISOFORMS 1 AND 2). Tissue: Testis. |
| [5] | "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] OF 2411-2697 (ISOFORM 2). Tissue: Urinary bladder. |
| [6] | "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: TISSUE SPECIFICITY, INVOLVEMENT IN CDLS1. |
| [7] | "The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain." Lechner M.S., Schultz D.C., Negorev D., Maul G.G., Rauscher F.J. III Biochem. Biophys. Res. Commun. 331:929-937(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CBX5. |
| [8] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-318; THR-713; THR-746; SER-1096; SER-2658 AND THR-2667, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [9] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2658, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Embryonic kidney. |
| [11] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2658, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [12] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-150; SER-162; SER-306; SER-350; SER-912; SER-1089; SER-1090; SER-1096; SER-1150; SER-1152; SER-1154; SER-1160; SER-2509; SER-2511; SER-2513; SER-2515 AND SER-2658, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-2667 AND SER-2672 (ISOFORM 2), MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [13] | "Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2658, MASS SPECTROMETRY. |
| [14] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1089; SER-1090; SER-1096; SER-1150; SER-1154; SER-1160 AND SER-2658, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [15] | "Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [16] | "Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation." Nozawa R.S., Nagao K., Masuda H.T., Iwasaki O., Hirota T., Nozaki N., Kimura H., Obuse C. Nat. Cell Biol. 12:719-727(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CBX5, MUTAGENESIS OF VAL-1003 AND LEU-1005. |
| [17] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-256; SER-318; SER-350; SER-2658 AND SER-2672, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [18] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [19] | "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-350; SER-1096; SER-1150; SER-1152; SER-1154; SER-1160; SER-2509; SER-2511; SER-2513; SER-2515; SER-2658; THR-2667 AND SER-2672, MASS SPECTROMETRY. |
| [20] | "NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations." Gillis L.A., McCallum J., Kaur M., DeScipio C., Yaeger D., Mariani A., Kline A.D., Li H., Devoto M., Jackson L.G., Krantz I.D. Am. J. Hum. Genet. 75:610-623(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS1 GLY-1246; PRO-1312; LEU-1789; VAL-1803; THR-1856; CYS-2298; HIS-2298; ARG-2312; ALA-2381; THR-2390 AND HIS-2440, VARIANTS SER-674 AND VAL-1206. |
| [21] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-1647. |
| [22] | "Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome." Pie J., Gil-Rodriguez M.C., Ciero M., Lopez-Vinas E., Ribate M.P., Arnedo M., Deardorff M.A., Puisac B., Legarreta J., de Karam J.C., Rubio E., Bueno I., Baldellou A., Calvo M.T., Casals N., Olivares J.L., Losada A., Hegardt F.G. Ramos F.J.Am. J. Med. Genet. A 152:924-929(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDLS1 ASN-1897 DEL; ALA-2081; ILE-2090 AND PRO-2150. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ627032 mRNA. Translation: CAF25290.1. AJ640137 mRNA. Translation: CAG26691.1. BX538177 mRNA. Translation: CAD98051.1. BX538178 mRNA. Translation: CAD98052.1. BX640644 mRNA. Translation: CAE45790.1. Frameshift. AK126804 mRNA. Translation: BAC86701.1. Different initiation. AB019494 mRNA. Translation: BAA77335.1. Sequence problems. AB019602 mRNA. Translation: BAA77349.1. Sequence problems. BC033847 mRNA. Translation: AAH33847.1. Different initiation. |
| IPI | IPI00026466. IPI00436632. IPI00436634. |
| RefSeq | NP_056199.2. NM_015384.4. NP_597677.2. NM_133433.3. |
| UniGene | Hs.481927. |
3D structure databases | |
| ProteinModelPortal | Q6KC79. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-29199N. |
| IntAct | Q6KC79. 7 interactions. |
| STRING | 9606.ENSP00000282516. |
PTM databases | |
| PhosphoSite | Q6KC79. |
Polymorphism databases | |
| DMDM | 50400865. |
Proteomic databases | |
| PaxDb | Q6KC79. |
| PRIDE | Q6KC79. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000282516; ENSP00000282516; ENSG00000164190. ENST00000448238; ENSP00000406266; ENSG00000164190. |
| GeneID | 25836. |
| KEGG | hsa:25836. |
| UCSC | uc003jkk.4. human. uc003jkl.4. human. uc003jkm.1. human. |
Organism-specific databases | |
| CTD | 25836. |
| GeneCards | GC05P036876. |
| HGNC | HGNC:28862. NIPBL. |
| HPA | HPA040834. |
| MIM | 122470. phenotype. 608667. gene. |
| neXtProt | NX_Q6KC79. |
| Orphanet | 199. Cornelia de Lange syndrome. |
| PharmGKB | PA134962343. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG128278. |
| HOVERGEN | HBG052626. |
| InParanoid | Q6KC79. |
| KO | K06672. |
| OMA | HESGDSR. |
| OrthoDB | EOG4001HC. |
| PhylomeDB | Q6KC79. |
Enzyme and pathway databases | |
| Reactome | REACT_115566. Cell Cycle. REACT_21300. Mitotic M-M/G1 phases. |
Gene expression databases | |
| ArrayExpress | Q6KC79. |
| Bgee | Q6KC79. |
| CleanEx | HS_NIPBL. |
| Genevestigator | Q6KC79. |
| GermOnline | ENSG00000164190. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.25.10.10. 3 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 | |
| ChiTaRS | NIPBL. human. |
| GenomeRNAi | 25836. |
| NextBio | 47141. |
| SOURCE | Search... |
Entry information
| Entry name | NIPBL_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6KC79 Secondary accession number(s): Q6KCD6 Q9Y6Y4 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 5 Human chromosome 5: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |