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Protein basic information

LiverAtlas Protein ID

HuLPr26983

Uniprot ID

MDC1_HUMAN

Uniprot Acc

Q14676;A2AB04;A2BF04;A2RRA8;A7YY86;B0S8A2;Q0EFC2;Q2L6H7;Q2TAZ4;Q5JP55;Q5JP56;Q5ST83;Q68CQ3;Q86Z06;Q96QC2;

Protein name

Mediator of DNA damage checkpoint protein 1

Comment

FUNCTION:Required for checkpoint mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle. May serve as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage marked by 'Ser-139' phosphorylation of histone H2AFX. Also required for downstream events subsequent to the recruitment of these proteins. These include phosphorylation and activation of the ATM, CHEK1/CHK1 and CHEK2/CHK2/CDS1 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1.||SUBUNIT:Interacts with several proteins involved in the DNA damage response, although not all these interactions may be direct. Interacts with H2AFX, which requires phosphorylation of H2AFX on 'Ser-139'. Interacts with the MRN complex, composed of MRE11A/MRE11, RAD50, and NBN. Interacts with CHEK2/CHK2/CDS1, which requires ATM-mediated phosphorylation of 'Thr-

Subcellular localization

Nucleus.

Gene name

mediator of DNA-damage checkpoint 1

Related liver disease name

Hepatocellular carcinoma

Protein sequence

MEDTQAIDWDVEEEEETEQSSESLRCNVEPVGRLHIFSGA HGPEKDFPLHLGKNVVGRMPDCSVALPFPSISKQHAEIE ILAWDKAPILRDCGSLNGTQILRPPKVLSPGVSHRLRDQ ELILFADLLCQYHRLDVSLPFVSRGPLTVEETPRVQGET QPQRLLLAEDSEEEVDFLSERRMVKKSRTTSSSVIVPES DEEGHSPVLGGLGPPFAFNLNSDTDVEEGQQPATEEASS AARRGATVEAKQSEAEVVTEIQLEKDQPLVKERDNDTKV KRGAGNGVVPAGVILERSQPPGEDSDTDVDDDSRPPGRP AEVHLERAQPFGFIDSDTDAEEERIPATPVVIPMKKRKI FHGVGTRGPGAPGLAHLQESQAGSDTDVEEGKAPQAVPL EKSQASMVINSDTDDEEEVSAALTLAHLKESQPAIWNRD AEEDMPQRVVLLQRSQTTTERDSDTDVEEEELPVENREA VLKDHTKIRALVRAHSEKDQPPFGDSDDSVEADKSSPGI HLERSQASTTVDINTQVEKEVPPGSAIIHIKKHQVSVEG TNQTDVKAVGGPAKLLVVSLEEAWPLHGDCETDAEEGTS LTASVVADVRKSQLPAEGDAGAEWAAAVLKQERAHEVGA QGGPPVAQVEQDLPISRENLTDLVVDTDTLGESTQPQRE GAQVPTGREREQHVGGTKDSEDNYGDSEDLDLQATQCFL ENQGLEAVQSMEDEPTQAFMLTPPQELGPSHCSFQTTGT LDEPWEVLATQPFCLRESEDSETQPFDTHLEAYGPCLSP PRAIPGDQHPESPVHTEPMGIQGRGRQTVDKVMGIPKET AERVGPERGPLERETEKLLPERQTDVTGEEELTKGKQDR EQKQLLARDTQRQESDKNGESASPERDRESLKVEIETSE EIQEKQVQKQTLPSKAFEREVERPVANRECDPAELEEKV PKVILERDTQRGEPEGGSQDQKGQASSPTPEPGVGAGDL PGPTSAPVPSGSQSGGRGSPVSPR

Database cross reference

RefSeq Protein accession:NP_055456
RefSeq Protein gi:132626688

Liver relevance

HCC significant Proteins

Yes/No

Yes

Quality score

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;French Liver;Human Liver Organelles;

Ontology annotation

GO-C

GO:0005925;C:focal adhesion;IDA:HPA. GO:0005654;C:nucleoplasm;EXP:Reactome.

GO-F

GO:0070975;F:FHA domain binding;IPI:UniProtKB. GO:0008022;F:protein C-terminus binding;IPI:UniProtKB.

GO-P

GO:0007049;P:cell cycle;IEA:UniProtKB-KW. GO:0000724;P:double-strand break repair via homologous recombination;TAS:Reactome. GO:0031573;P:intra-S DNA damage checkpoint;TAS:UniProtKB.

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