human-NDRG1

 
Homo sapiens (Human) N-myc downstream-regulated gene 1 protein (cap43,rit42, ndr1 DRG1, PROXY1, RTP, TDD5)

Comment
NDRG1 appears to play a role in growth arrest and cell differentiation, possibly as a signaling protein shuttling between the cytoplasm and the nucleus. Kalaydjieva et al. (2000) demonstrated that expression in peripheral nerve is particularly high in Schwann cells. Taken together, the findings pointed to NDRG1 having a role in the peripheral nervous system, possibly in Schwann cell signaling necessary for axonal survival. Mutation in NDRG1 is responsible for Lom type of hereditary motor and sensory neuropathy also called Charcot-Marie-tooth disease type 4D (Kalaydjieva et al. (2000)) (old name human-ndr1) Another gene of the same family ratno-ndr4 (Bdm1) is associated with hot water epilepsy (Bhaduri et al. 2003)


Relationship
Family Ndr_family
Block X
Homo sapiens position in NCBI Life Tree :
N link to NCBI taxonomic web page and E link to ESTHER gene locus found in this strain.
> cellular organisms: N E > Eukaryota: N E > Opisthokonta: N E > Metazoa: N E > Eumetazoa: N E > Bilateria: N E > Deuterostomia: N E > Chordata: N E > Craniata: N E > Vertebrata: N E > Gnathostomata: N E > Teleostomi: N E > Euteleostomi: N E > Sarcopterygii: N E > Dipnotetrapodomorpha: N E > Tetrapoda: N E > Amniota: N E > Mammalia: N E > Theria: N E > Eutheria: N E > Boreoeutheria: N E > Euarchontoglires: N E > Primates: N E > Haplorrhini: N E > Simiiformes: N E > Catarrhini: N E > Hominoidea: N E > Hominidae: N E > Homininae: N E > Homo: N E > Homo sapiens: N E

Molecular evidence
Database
8 mutations: Table (ordered Natural and SD mutagenesis) (e.g. : Q185X_human-NDRG1, R148X_human-NDRG1, IVS8-1G>A_human-NDRG1 ... more)
1 structure:
6ZMM: Crystal structure of human NDRG1
No kinetic
Disease: Hereditary motor and sensory neuropathy, LOM Type -


>3 Genbank links 17 more: BC006260, D87953, X92845
>3 UniProt links 11 more: Q92597, B7Z505, B3KU62
1 Structure : 6ZMM
>3 UniProtTrembl links 18 more: Q92597, Q53EU7, Q597H1
>3 Interpro links 18 more: Q92597, Q53EU7, Q597H1
>3 Prodom links 18 more: Q92597, Q53EU7, Q597H1
>3 Pfam links 18 more: Q92597, Q53EU7, Q597H1
>3 PIRSF links 18 more: Q92597, Q53EU7, Q597H1
>3 SUPERFAM links 18 more: Q92597, Q53EU7, Q597H1
>3 QuickSwissBlast links 18 more: Q92597, Q53EU7, Q597H1
1 EntrezGene : 10397
1 SNP : 10397
1 UniGene : 618002
1 HUGO HGNC : 7679
2 OMIM : 601455, 605262
1 Ensembl : ENSG00000104419
 
Sequence
Graphical view for this peptide sequence: human-NDRG1
Colored MSA for Ndr_family (raw)
MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCG
TPKGNRPVILTYHDIGMNHKTCYNPLFNYEDMQEITQHFAVCHVDAPGQQ
DGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFA
LNNPEMVEGLVLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEE
MQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIERPMPGTHTVT
LQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAK
LAEAFKYFVQGMGYMPSASMTRLMRSRTASGSSVTSLDGTRSRSHTSEGT
RSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC
Legend This sequence has been compared to family alignement (MSA)
red => minority aminoacid
blue => majority aminoacid
color intensity => conservation rate
title => sequence position(MSA position)aminoacid rate
Catalytic site
Catalytic site in the MSA

MSREMQDVDLAEVKPLVEKGETITGLLQEFDVQEQDIETLHGSVHVTLCG
TPKGNRPVILTYHDIGMNHKTCYNPLFNYEDMQEITQHFAVCHVDAPGQQ
DGAASFPAGYMYPSMDQLAEMLPGVLQQFGLKSIIGMGTGAGAYILTRFA
LNNPEMVEGLVLINVNPCAEGWMDWAASKISGWTQALPDMVVSHLFGKEE
MQSNVEVVHTYRQHIVNDMNPGNLHLFINAYNSRRDLEIERPMPGTHTVT
LQCPALLVVGDSSPAVDAVVECNSKLDPTKTTLLKMADCGGLPQISQPAK
LAEAFKYFVQGMGYMPSASMTRLMRSRTASGSSVTSLDGTRSRSHTSEGT
RSRSHTSEGTRSRSHTSEGAHLDITPNSGAAGNSAGPKSMEVSC

no DNA




References
47 more
    Title: Exercise increases phosphorylation of the putative mTORC2 activity readout NDRG1 in human skeletal muscle
    Knudsen JR, Persson KW, Meister J, Carl CS, Raun SH, Andersen NR, Sylow L, Kiens B, Jensen TE and Kleinert M <1 more author(s)>
    Ref: American Journal of Physiology Endocrinol Metab, 322:E63, 2022 : PubMed

            

    Title: NDRG1 facilitates lytic replication of Kaposi's sarcoma-associated herpesvirus by maintaining the stability of the KSHV helicase
    Dong L, Dong J, Xiang M, Lei P, Li Z, Zhang F, Sun X, Niu D, Bai L, Lan K
    Ref: PLoS Pathog, 17:e1009645, 2021 : PubMed

            

    Title: The expression of YWHAZ and NDRG1 predicts aggressive outcome in human prostate cancer
    Lage-Vickers S, Bizzotto J, Valacco MP, Sanchis P, Nemirovsky S, Labanca E, Scorticati C, Mazza O, Mitrofanova A and Gueron G <3 more author(s)>
    Ref: Commun Biol, 4:103, 2021 : PubMed

            


Other Papers


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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