Reviewed,
UniProtKB/Swiss-Prot Q92597 (NDRG1_HUMAN)
Last modified
November 25, 2008.
Version 83.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Protein NDRG1 Alternative name(s): N-myc downstream-regulated gene 1 protein Differentiation-related gene 1 protein Short name=DRG-1 Reducing agents and tunicamycin-responsive protein Short name=RTP Nickel-specific induction protein Cap43 Rit42 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 394 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | May have a growth inhibitory role. |
| Subcellular location | Cytoplasm. Nucleus. Cell membrane. Note= Whereas in prostate epithelium and placental chorion it is located in both the cytoplasm and the nucleus, nuclear staining is not observed in colon epithelium cells. Instead its localization changes from the cytoplasm to the plasma membrane during differentiation of colon carcinoma cell lines in vitro. |
| Tissue specificity | Ubiquitous; expressed most prominently in placental membranes and prostate, kidney, small intestine, and ovary tissues. Reduced expression in adenocarcinomas compared to normal tissues. In colon, prostate and placental membranes, the cells that border the lumen show the highest expression. |
| Induction | By homocysteine, 2-mercaptoethanol, tunicamycin in endothelial cells. Induced approximately 20-fold during in vitro differentiation of the colon carcinoma cell lines HT29-D4 and Caco-2. Induced by nickel compounds in all tested cell lines. The primary signal for its induction is an elevation of free intracellular calcium ion caused by nickel ion exposure. Okadaic acid, a serine/threonine phosphatase inhibitor, induced its expression more rapidly and more efficiently than nickel. |
| Involvement in disease | Defects in NDRG1 are the cause of Charcot-Marie-Tooth disease type 4D (CMT4D) [MIM:601455]; also known as hereditary motor and sensory neuropathy Lom type (HMSNL). CMT4D is a recessive form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention, autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. |
| Sequence similarities | Belongs to the NDRG family. |
Ontologies
Keywords | |
|---|---|
| Cellular component | Cell membrane Cytoplasm Membrane Nucleus |
| Disease | Charcot-Marie-Tooth disease |
| Domain | Repeat |
| PTM | Phosphoprotein |
Gene Ontology (GO) | |
| Biological process | response to metal ion Ref.3 Traceable author statement. Source: ProtInc |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW cytoskeletonInferred from direct assay. Source: HPA nucleusInferred from electronic annotation. Source: UniProtKB-KW plasma membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | protein binding Inferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Binary interactions
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 394 | 394 | Protein NDRG1 | PRO_0000159573 | |||||
Regions | |||||||||
| Repeat | 339 – 348 | 10 | 1 | ||||||
| Repeat | 349 – 358 | 10 | 2 | ||||||
| Repeat | 359 – 368 | 10 | 3 | ||||||
| Region | 339 – 368 | 30 | 3 X 10 AA tandem repeats of G-T-R-S-R-S-H-T-S-E | ||||||
Amino acid modifications | |||||||||
| Modified residue | 319 | 1 | Phosphoserine | ||||||
| Modified residue | 326 | 1 | Phosphoserine | ||||||
| Modified residue | 328 | 1 | Phosphothreonine | ||||||
| Modified residue | 330 | 1 | Phosphoserine | ||||||
| Modified residue | 332 | 1 | Phosphoserine | ||||||
| Modified residue | 333 | 1 | Phosphoserine | ||||||
| Modified residue | 335 | 1 | Phosphothreonine | ||||||
| Modified residue | 336 | 1 | Phosphoserine | ||||||
| Modified residue | 364 | 1 | Phosphoserine | ||||||
| Modified residue | 366 | 1 | Phosphothreonine | ||||||
| Modified residue | 375 | 1 | Phosphothreonine | ||||||
Experimental info | |||||||||
| Sequence conflict | 145 | 1 | I → T in CAA63430. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Homocysteine-respondent genes in vascular endothelial cells identified by differential display analysis. GRP78/BiP and novel genes." Kokame K., Kato H., Miyata T. J. Biol. Chem. 271:29659-29665(1996) [PubMed: 8939898] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Umbilical vein endothelial cell. |
| [2] | "A novel gene which is up-regulated during colon epithelial cell differentiation and down-regulated in colorectal neoplasms." van Belzen N., Dinjens W.N.M., Diesveld M.P.G., Groen N.A., van der Made A.C.J., Nozawa Y., Vlietstra R., Trapman J., Bosman F.T. Lab. Invest. 77:85-92(1997) [PubMed: 9251681] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "Cap43, a novel gene specifically induced by Ni2+ compounds." Zhou D., Salnikow K., Costa M. Cancer Res. 58:2182-2189(1998) [PubMed: 9605764] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Lung. |
| [4] | "Differential expression of the RTP/Drg1/Ndr1 gene product in proliferating and growth arrested cells." Piquemal D., Joulia D., Balaguer P., Basset A., Marti J., Commes T. Biochim. Biophys. Acta 1450:364-373(1999) [PubMed: 10395947] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [5] | "DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. Lander E.S.Nature 439:331-335(2006) [PubMed: 16421571] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Kidney. |
| [7] | Angelicheva D., Kalaydjieva L. Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-21. Tissue: Brain. |
| [8] | "Inhibition of tumor cell growth by RTP/rit42 and its responsiveness to p53 and DNA damage." Kurdistani S.K., Arizti P., Reimer C.L., Sugrue M.M., Aaronson S.A., Lee S.W. Cancer Res. 58:4439-4444(1998) [PubMed: 9766676] [Abstract] Cited for: FUNCTION. |
| [9] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-319; SER-330 AND SER-336, MASS SPECTROMETRY. Tissue: Epithelium. |
| [10] | "N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom." Kalaydjieva L., Gresham D., Gooding R., Heather L., Baas F., de Jonge R., Blechschmidt K., Angelicheva D., Chandler D., Worsley P., Rosenthal A., King R.H.M., Thomas P.K. Am. J. Hum. Genet. 67:47-58(2000) [PubMed: 10831399] [Abstract] Cited for: INVOLVEMENT IN CMT4D. |
| [11] | "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: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-326; THR-328 AND SER-330, MASS SPECTROMETRY. Tissue: Epithelium. |
| [12] | "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: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-330, MASS SPECTROMETRY. Tissue: Epithelium. |
| [13] | "Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line." Giorgianni F., Zhao Y., Desiderio D.M., Beranova-Giorgianni S. Electrophoresis 28:2027-2034(2007) [PubMed: 17487921] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-366, MASS SPECTROMETRY. |
| [14] | "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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-326; THR-328; SER-330; SER-332; SER-333; THR-335; SER-336; SER-364 AND THR-375, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| D87953 mRNA. Translation: BAA13505.1. X92845 mRNA. Translation: CAA63430.1. AF004162 mRNA. Translation: AAC13419.1. AF186190 Genomic DNA. No translation available. AF192304 Genomic DNA. No translation available. BC003175 mRNA. Translation: AAH03175.1. AF230380 mRNA. Translation: AAF71305.1. | |
| RefSeq | NP_001128714.1. NP_006087.2. |
| UniGene | Hs.372914 Hs.618002 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q92597. |
Protein family/group databases | |
| MEROPS | S33.988. |
PTM databases | |
| PhosphoSite | Q92597. |
Genome annotation databases | |
| Ensembl | ENSG00000104419. Homo sapiens. [Contig view] |
| GeneID | 10397. |
| KEGG | hsa:10397. |
Organism-specific databases | |
| H-InvDB | HIX0019763. |
| HGNC | HGNC:7679. NDRG1. |
| HPA | HPA006881. |
| MIM | 601455. phenotype. 605262. gene. |
| Orphanet | 64749. Charcot-Marie-Tooth disease, type 4. 99950. Charcot-Marie-Tooth disease, type 4D. |
| PharmGKB | PA31482. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | Q92597. |
| HOVERGEN | Q92597. |
Gene expression databases | |
| ArrayExpress | Q92597. |
| CleanEx | HS_DRG1. HS_NDRG1. |
| GermOnline | ENSG00000104419. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004142. Ndr. [Graphical view] |
| PANTHER | PTHR11034. Ndr. 1 hit. |
| Pfam | PF03096. Ndr. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 39394. |
| SOURCE | Search... |
Entry information
| Entry name | NDRG1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q92597 Secondary accession number(s): O15207, Q9NYR6, Q9UK29 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 8 Human chromosome 8: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


