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Entry version 175 (07 Jun 2017)
Sequence version 3 (05 Jul 2005)
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Protein

Mediator of DNA damage checkpoint protein 1

Gene

MDC1

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

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 and CHEK2 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1.10 Publications

GO - Molecular functionⁱ

FHA domain binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 20008512
protein C-terminus binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 17577209

Complete GO annotation...

GO - Biological processⁱ

double-strand break repair via nonhomologous end joining Source: Reactome
intra-S DNA damage checkpoint
Source: UniProtKB
Traceable author statementⁱ
- 17577209

Complete GO annotation...

Keywordsⁱ

Biological process	Cell cycle, DNA damage, DNA repair

Biological process

Cell cycle, DNA damage, DNA repair

Enzyme and pathway databases

Reactomeⁱ	R-HSA-3108214. SUMOylation of DNA damage response and repair proteins. R-HSA-5693565. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks. R-HSA-5693571. Nonhomologous End-Joining (NHEJ). R-HSA-5693607. Processing of DNA double-strand break ends. R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes. R-HSA-69473. G2/M DNA damage checkpoint.
SignaLinkⁱ	Q14676.
SIGNORⁱ	Q14676.

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Mediator of DNA damage checkpoint protein 1 Alternative name(s): Nuclear factor with BRCT domains 1
Gene namesⁱ	Name:MDC1 Synonyms:KIAA0170, NFBD1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:21163. MDC1.

HGNCⁱ

HGNC:21163. MDC1.

Subcellular locationⁱ

Note:

Associated with chromatin. Relocalizes to discrete nuclear foci following DNA damage, this requires 'Ser-139' phosphorylation of H2AFX. Colocalizes with APTX at sites of DNA double-strand breaks.

GO - Cellular componentⁱ

chromosome Source: UniProtKB
focal adhesion Source: HPA
nuclear body Source: HPA
nucleoplasm Source: HPA
nucleus
Source: MGI
Inferred from direct assayⁱ

Complete GO annotation...

Keywords - Cellular componentⁱ

Chromosome, Nucleus

Pathology & Biotechⁱ

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	58	R → A: Abrogates binding to the MRE11 complex and to CHEK2. 2 Publications	1
Mutagenesisⁱ	72	S → A: Abrogates binding to CHEK2. 1 Publication	1
Mutagenesisⁱ	96	N → A: Abrogates binding to CHEK2; when associated with A-97 and A-98. 1 Publication	1
Mutagenesisⁱ	97	G → A: Abrogates binding to CHEK2; when associated with A-96 and A-98. 1 Publication	1
Mutagenesisⁱ	98	T → A: Abrogates binding to CHEK2; when associated with A-96 and A-97. 1 Publication	1
Mutagenesisⁱ	1840	K → R: Suppresses RNF4-mediated ubiquitination, accumulates at sites of DNA damage, defective homologous recombination. 1 Publication	1

Organism-specific databases

DisGeNET More...DisGeNETⁱ	9656.
Open Targets More...OpenTargetsⁱ	ENSG00000137337.
PharmGKBⁱ	PA134942837.

Polymorphism and mutation databases

BioMutaⁱ	MDC1.

BioMutaⁱ

MDC1.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000096316	1 – 2089	Mediator of DNA damage checkpoint protein 1Add BLAST		2089

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	4	Phosphothreonine; by ATM1 Publication	1
Modified residueⁱ	108	PhosphoserineCombined sources	1
Modified residueⁱ	146	PhosphothreonineCombined sources	1
Modified residueⁱ	168	PhosphoserineCombined sources	1
Modified residueⁱ	176	PhosphoserineBy similarity	1
Modified residueⁱ	299	PhosphoserineCombined sources	1
Modified residueⁱ	301	PhosphothreonineCombined sources	1
Modified residueⁱ	329	PhosphoserineCombined sources	1
Modified residueⁱ	331	PhosphothreonineCombined sources	1
Modified residueⁱ	372	PhosphoserineCombined sources	1
Modified residueⁱ	376	PhosphoserineCombined sources	1
Modified residueⁱ	378	PhosphothreonineCombined sources	1
Modified residueⁱ	394	PhosphoserineCombined sources	1
Modified residueⁱ	397	PhosphoserineCombined sources	1
Modified residueⁱ	402	PhosphoserineCombined sources	1
Modified residueⁱ	404	PhosphothreonineCombined sources	1
Modified residueⁱ	411	PhosphoserineCombined sources	1
Modified residueⁱ	449	PhosphothreonineCombined sources	1
Modified residueⁱ	453	PhosphoserineCombined sources	1
Modified residueⁱ	455	PhosphothreonineCombined sources	1
Modified residueⁱ	485	PhosphoserineCombined sources	1
Modified residueⁱ	495	PhosphoserineCombined sources	1
Modified residueⁱ	498	PhosphoserineCombined sources	1
Modified residueⁱ	504	PhosphoserineBy similarity	1
Modified residueⁱ	505	PhosphoserineBy similarity	1
Modified residueⁱ	513	PhosphoserineCombined sources	1
Modified residueⁱ	523	PhosphothreonineCombined sources	1
Modified residueⁱ	590	PhosphoserineBy similarity	1
Cross-linkⁱ	616	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Modified residueⁱ	780	PhosphoserineCombined sources	1
Modified residueⁱ	793	PhosphoserineCombined sources	1
Modified residueⁱ	812	N6-acetyllysineCombined sources	1
Modified residueⁱ	955	PhosphoserineCombined sources	1
Modified residueⁱ	998	PhosphoserineCombined sources	1
Modified residueⁱ	1033	PhosphoserineCombined sources	1
Modified residueⁱ	1068	PhosphoserineCombined sources	1
Modified residueⁱ	1086	PhosphoserineCombined sources	1
Modified residueⁱ	1157	PhosphothreonineCombined sources	1
Modified residueⁱ	1198	PhosphothreonineCombined sources	1
Modified residueⁱ	1235	PhosphoserineBy similarity	1
Modified residueⁱ	1239	PhosphothreonineCombined sources	1
Modified residueⁱ	1280	PhosphothreonineCombined sources	1
Modified residueⁱ	1302	PhosphothreonineCombined sources	1
Modified residueⁱ	1399	PhosphoserineCombined sources	1
Modified residueⁱ	1400	PhosphoserineCombined sources	1
Modified residueⁱ	1402	N6-acetyllysineCombined sources	1
Modified residueⁱ	1403	PhosphothreonineCombined sources	1
Cross-linkⁱ	1413	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Modified residueⁱ	1425	PhosphothreonineCombined sources	1
Modified residueⁱ	1466	PhosphothreonineCombined sources	1
Modified residueⁱ	1548	PhosphothreonineCombined sources	1
Modified residueⁱ	1564	PhosphoserineCombined sources	1
Modified residueⁱ	1567	PhosphothreonineCombined sources	1
Modified residueⁱ	1589	PhosphothreonineCombined sources	1
Modified residueⁱ	1604	PhosphoserineCombined sources	1
Modified residueⁱ	1608	PhosphothreonineCombined sources	1
Modified residueⁱ	1630	PhosphothreonineCombined sources	1
Modified residueⁱ	1664	PhosphothreonineCombined sources	1
Modified residueⁱ	1671	PhosphothreonineCombined sources	1
Modified residueⁱ	1681	PhosphoserineCombined sources	1
Modified residueⁱ	1697	PhosphothreonineCombined sources	1
Modified residueⁱ	1702	PhosphoserineCombined sources	1
Modified residueⁱ	1711	PhosphoserineCombined sources	1
Modified residueⁱ	1775	PhosphoserineCombined sources	1
Modified residueⁱ	1800	PhosphothreonineCombined sources	1
Modified residueⁱ	1820	PhosphoserineCombined sources	1
Cross-linkⁱ	1840	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)2 Publications
Cross-linkⁱ	1840	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residueⁱ	1858	PhosphothreonineCombined sources	1
Modified residueⁱ	1943	Omega-N-methylarginineCombined sources	1

Post-translational modificationⁱ

Phosphorylated upon exposure to ionizing radiation (IR), ultraviolet radiation (UV), and hydroxyurea (HU). Phosphorylation in response to IR requires ATM, NBN, and possibly CHEK2. Also phosphorylated during the G2/M phase of the cell cycle and during activation of the mitotic spindle checkpoint. Phosphorylation at Thr-4 by ATM stabilizes and enhances homodimerization via the FHA domain.4 Publications

Sumoylation at Lys-1840 by PIAS4 following DNA damage promotes ubiquitin-mediated degradation.1 Publication

Ubiquitinated by RNF4, leading to proteasomal degradation; undergoes 'Lys-48'-linked polyubiquitination.1 Publication

Keywords - PTMⁱ

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDⁱ	Q14676.
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q14676.
PaxDbⁱ	Q14676.
PeptideAtlas More...PeptideAtlasⁱ	Q14676.
PRIDEⁱ	Q14676.

PTM databases

iPTMnetⁱ	Q14676.
PhosphoSitePlusⁱ	Q14676.
SwissPalmⁱ	Q14676.

Expressionⁱ

Tissue specificityⁱ

Highly expressed in testis.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000137337.
ExpressionAtlasⁱ	Q14676. baseline and differential.
Genevisibleⁱ	Q14676. HS.

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA006915.

HPAⁱ

HPA006915.

Interactionⁱ

Subunit structureⁱ

Homodimer. 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 MRE11, RAD50, and NBN. Interacts with CHEK2, which requires ATM-mediated phosphorylation of 'Thr-68' within the FHA domain of CHEK2. Interacts constitutively with the BRCA1-BARD1 complex, SMC1A and TP53BP1. Interacts with ATM and FANCD2, and these interactions are reduced upon DNA damage. Also interacts with the PRKDC complex, composed of XRCC6/KU70, XRCC5/KU80 and PRKDC/XRCC7. This interaction may be required for PRKDC autophosphorylation, which is essential for DNA double strand break (DSB) repair. When phosphorylated by ATM, interacts with RNF8 (via FHA domain). Interacts with CEP164. When phosphorylated, interacts with APTX (via FHA-like domain).14 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
ATM	Q13315	2	EBI-495644,EBI-495465
H2AFX	P16104	16	EBI-495644,EBI-494830
NBN	O60934	26	EBI-495644,EBI-494844
nbs1	O43070	2	EBI-495644,EBI-2125045	From Schizosaccharomyces pombe (strain 972 / ATCC 24843).
RNF8	O76064	11	EBI-495644,EBI-373337

Show more details

GO - Molecular functionⁱ

FHA domain binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 20008512
protein C-terminus binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 17577209

Complete GO annotation...

Protein-protein interaction databases

BioGridⁱ	115014. 194 interactors.
Database of interacting proteins More...DIPⁱ	DIP-33603N.
IntActⁱ	Q14676. 21 interactors.
Molecular INTeraction database More...MINTⁱ	MINT-259925.
STRINGⁱ	9606.ENSP00000365588.

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	21 – 24	Combined sources	4
Beta strandⁱ	32 – 36	Combined sources	5
Beta strandⁱ	39 – 42	Combined sources	4
Beta strandⁱ	45 – 49	Combined sources	5
Beta strandⁱ	51 – 59	Combined sources	9
Beta strandⁱ	62 – 65	Combined sources	4
Beta strandⁱ	76 – 80	Combined sources	5
Beta strandⁱ	88 – 91	Combined sources	4
Beta strandⁱ	98 – 100	Combined sources	3
Turnⁱ	101 – 104	Combined sources	4
Beta strandⁱ	120 – 123	Combined sources	4
Beta strandⁱ	126 – 132	Combined sources	7
Beta strandⁱ	1894 – 1897	Combined sources	4
Helixⁱ	1903 – 1911	Combined sources	9
Turnⁱ	1920 – 1922	Combined sources	3
Beta strandⁱ	1924 – 1927	Combined sources	4
Helixⁱ	1935 – 1943	Combined sources	9
Helixⁱ	1951 – 1959	Combined sources	9
Helixⁱ	1966 – 1968	Combined sources	3
Helixⁱ	1973 – 1978	Combined sources	6
Helixⁱ	1983 – 1992	Combined sources	10
Turnⁱ	1995 – 1998	Combined sources	4
Beta strandⁱ	2000 – 2003	Combined sources	4
Helixⁱ	2011 – 2020	Combined sources	10
Beta strandⁱ	2024 – 2026	Combined sources	3
Beta strandⁱ	2037 – 2040	Combined sources	4
Helixⁱ	2043 – 2048	Combined sources	6
Helixⁱ	2050 – 2055	Combined sources	6
Helixⁱ	2063 – 2071	Combined sources	9
Helixⁱ	2076 – 2079	Combined sources	4

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2ADO	X-ray	1.45	A/B	1891-2086	[»]
	2AZM	X-ray	2.41	A/B	1883-2089	[»]
	2ETX	X-ray	1.33	A/B	1884-2089	[»]
	3K05	X-ray	1.33	A/B	1891-2089	[»]
	3UEO	X-ray	2.60	E/F	325-336	[»]
	3UMZ	X-ray	1.65	A/B	27-138	[»]
	3UN0	X-ray	2.30	A/B	26-138	[»]
	3UNM	X-ray	1.80	A/B	27-138	[»]
	3UNN	X-ray	1.70	A	27-138	[»]
				B	1-8	[»]
	3UOT	X-ray	1.80	A/B	19-138	[»]
				D/E	1-10	[»]
ProteinModelPortalⁱ	Q14676.
SMRⁱ	Q14676.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q14676.

EvolutionaryTraceⁱ

Q14676.

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	54 – 105	FHAPROSITE-ProRule annotationAdd BLAST	52
Domainⁱ	1892 – 1970	BRCT 1PROSITE-ProRule annotationAdd BLAST	79
Domainⁱ	1991 – 2082	BRCT 2PROSITE-ProRule annotationAdd BLAST	92

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	1 – 150	Interaction with CHEK2Add BLAST	150
Regionⁱ	2 – 220	Interaction with the MRN complexAdd BLAST	219
Regionⁱ	145 – 568	Required for nuclear localization (NLS1)Add BLAST	424
Regionⁱ	1148 – 1610	Interaction with the PRKDC complexAdd BLAST	463
Regionⁱ	1698 – 2089	Required for nuclear localization (NLS2)Add BLAST	392

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	1034 – 1469	Pro-richAdd BLAST		436

Domainⁱ

Tandemly repeated BRCT domains are characteristic of proteins involved in DNA damage signaling. In MDC1, these repeats are required for localization to chromatin which flanks sites of DNA damage marked by 'Ser-139' phosphorylation of H2AFX.1 Publication

Keywords - Domainⁱ

Repeat

Phylogenomic databases

eggNOGⁱ	KOG2043. Eukaryota. ENOG4111RPS. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00600000084454.
HOVERGENⁱ	HBG080567.
InParanoidⁱ	Q14676.
KEGG Orthology (KO) More...KOⁱ	K20780.
OMAⁱ	FPLYLGK.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0V3Z.
PhylomeDBⁱ	Q14676.
TreeFamⁱ	TF329580.

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00027. BRCT. 1 hit.
Gene3Dⁱ	3.40.50.10190. 2 hits.
InterProⁱ	View protein in InterPro IPR001357. BRCT_dom. IPR000253. FHA_dom. IPR008984. SMAD_FHA_domain.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00498. FHA. 1 hit. PF16770. RTT107_BRCT_5. 1 hit.
SMARTⁱ	View protein in SMART SM00240. FHA. 1 hit.
SUPFAMⁱ	SSF49879. SSF49879. 1 hit. SSF52113. SSF52113. 1 hit.
PROSITEⁱ	View protein in PROSITE PS50172. BRCT. 1 hit. PS50006. FHA_DOMAIN. 1 hit.

Sequences (4)ⁱ

Sequence statusⁱ: Complete.

This entry describes 4 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: Q14676-1) [UniParc]FASTA Add to basket

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.

« Hide

        10         20         30         40         50
MEDTQAIDWD VEEEEETEQS SESLRCNVEP VGRLHIFSGA HGPEKDFPLH 
        60         70         80         90        100
LGKNVVGRMP DCSVALPFPS ISKQHAEIEI LAWDKAPILR DCGSLNGTQI 
       110        120        130        140        150
LRPPKVLSPG VSHRLRDQEL ILFADLLCQY HRLDVSLPFV SRGPLTVEET 
       160        170        180        190        200
PRVQGETQPQ RLLLAEDSEE EVDFLSERRM VKKSRTTSSS VIVPESDEEG 
       210        220        230        240        250
HSPVLGGLGP PFAFNLNSDT DVEEGQQPAT EEASSAARRG ATVEAKQSEA 
       260        270        280        290        300
EVVTEIQLEK DQPLVKERDN DTKVKRGAGN GVVPAGVILE RSQPPGEDSD 
       310        320        330        340        350
TDVDDDSRPP GRPAEVHLER AQPFGFIDSD TDAEEERIPA TPVVIPMKKR 
       360        370        380        390        400
KIFHGVGTRG PGAPGLAHLQ ESQAGSDTDV EEGKAPQAVP LEKSQASMVI 
       410        420        430        440        450
NSDTDDEEEV SAALTLAHLK ESQPAIWNRD AEEDMPQRVV LLQRSQTTTE 
       460        470        480        490        500
RDSDTDVEEE ELPVENREAV LKDHTKIRAL VRAHSEKDQP PFGDSDDSVE 
       510        520        530        540        550
ADKSSPGIHL ERSQASTTVD INTQVEKEVP PGSAIIHIKK HQVSVEGTNQ 
       560        570        580        590        600
TDVKAVGGPA KLLVVSLEEA WPLHGDCETD AEEGTSLTAS VVADVRKSQL 
       610        620        630        640        650
PAEGDAGAEW AAAVLKQERA HEVGAQGGPP VAQVEQDLPI SRENLTDLVV 
       660        670        680        690        700
DTDTLGESTQ PQREGAQVPT GREREQHVGG TKDSEDNYGD SEDLDLQATQ 
       710        720        730        740        750
CFLENQGLEA VQSMEDEPTQ AFMLTPPQEL GPSHCSFQTT GTLDEPWEVL 
       760        770        780        790        800
ATQPFCLRES EDSETQPFDT HLEAYGPCLS PPRAIPGDQH PESPVHTEPM 
       810        820        830        840        850
GIQGRGRQTV DKVMGIPKET AERVGPERGP LERETEKLLP ERQTDVTGEE 
       860        870        880        890        900
ELTKGKQDRE QKQLLARDTQ RQESDKNGES ASPERDRESL KVEIETSEEI 
       910        920        930        940        950
QEKQVQKQTL PSKAFEREVE RPVANRECDP AELEEKVPKV ILERDTQRGE 
       960        970        980        990       1000
PEGGSQDQKG QASSPTPEPG VGAGDLPGPT SAPVPSGSQS GGRGSPVSPR 
      1010       1020       1030       1040       1050
RHQKGLLNCK MPPAEKASRI RAAEKVSRGD QESPDACLPP TVPEAPAPPQ 
      1060       1070       1080       1090       1100
KPLNSQSQKH LAPPPLLSPL LPSIKPTVRK TRQDGSQEAP EAPLSSELEP 
      1110       1120       1130       1140       1150
FHPKPKIRTR KSSRMTPFPA TSAAPEPHPS TSTAQPVTPK PTSQATRSRT 
      1160       1170       1180       1190       1200
NRSSVKTPEP VVPTAPELQP STSTDQPVTS EPTSQVTRGR KSRSSVKTPE 
      1210       1220       1230       1240       1250
TVVPTALELQ PSTSTDRPVT SEPTSQATRG RKNRSSVKTP EPVVPTAPEL 
      1260       1270       1280       1290       1300
QPSTSTDQPV TSEPTYQATR GRKNRSSVKT PEPVVPTAPE LRPSTSTDRP 
      1310       1320       1330       1340       1350
VTPKPTSRTT RSRTNMSSVK TPETVVPTAP ELQISTSTDQ PVTPKPTSRT 
      1360       1370       1380       1390       1400
TRSRTNMSSV KNPESTVPIA PELPPSTSTE QPVTPEPTSR ATRGRKNRSS 
      1410       1420       1430       1440       1450
GKTPETLVPT APKLEPSTST DQPVTPEPTS QATRGRTNRS SVKTPETVVP 
      1460       1470       1480       1490       1500
TAPELQPSTS TDQPVTPEPT SQATRGRTDR SSVKTPETVV PTAPELQASA 
      1510       1520       1530       1540       1550
STDQPVTSEP TSRTTRGRKN RSSVKTPETV VPAAPELQPS TSTDQPVTPE 
      1560       1570       1580       1590       1600
PTSRATRGRT NRSSVKTPES IVPIAPELQP STSRNQLVTP EPTSRATRCR 
      1610       1620       1630       1640       1650
TNRSSVKTPE PVVPTAPEPH PTTSTDQPVT PKLTSRATRR KTNRSSVKTP 
      1660       1670       1680       1690       1700
KPVEPAASDL EPFTPTDQSV TPEAIAQGGQ SKTLRSSTVR AMPVPTTPEF 
      1710       1720       1730       1740       1750
QSPVTTDQPI SPEPITQPSC IKRQRAAGNP GSLAAPIDHK PCSAPLEPKS 
      1760       1770       1780       1790       1800
QASRNQRWGA VRAAESLTAI PEPASPQLLE TPIHASQIQK VEPAGRSRFT 
      1810       1820       1830       1840       1850
PELQPKASQS RKRSLATMDS PPHQKQPQRG EVSQKTVIIK EEEEDTAEKP 
      1860       1870       1880       1890       1900
GKEEDVVTPK PGKRKRDQAE EEPNRIPSRS LRRTKLNQES TAPKVLFTGV 
      1910       1920       1930       1940       1950
VDARGERAVL ALGGSLAGSA AEASHLVTDR IRRTVKFLCA LGRGIPILSL 
      1960       1970       1980       1990       2000
DWLHQSRKAG FFLPPDEYVV TDPEQEKNFG FSLQDALSRA RERRLLEGYE 
      2010       2020       2030       2040       2050
IYVTPGVQPP PPQMGEIISC CGGTYLPSMP RSYKPQRVVI TCPQDFPHCS 
      2060       2070       2080 
IPLRVGLPLL SPEFLLTGVL KQEAKPEAFV LSPLEMSST

Length:2,089

Mass (Da):226,666

Last modified:July 5, 2005 - v3

Checksum:ⁱA8B880A25617EC96

Isoform 2 (identifier: Q14676-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
741-1004: Missing.

« Hide

        10         20         30         40         50
MEDTQAIDWD VEEEEETEQS SESLRCNVEP VGRLHIFSGA HGPEKDFPLH 
        60         70         80         90        100
LGKNVVGRMP DCSVALPFPS ISKQHAEIEI LAWDKAPILR DCGSLNGTQI 
       110        120        130        140        150
LRPPKVLSPG VSHRLRDQEL ILFADLLCQY HRLDVSLPFV SRGPLTVEET 
       160        170        180        190        200
PRVQGETQPQ RLLLAEDSEE EVDFLSERRM VKKSRTTSSS VIVPESDEEG 
       210        220        230        240        250
HSPVLGGLGP PFAFNLNSDT DVEEGQQPAT EEASSAARRG ATVEAKQSEA 
       260        270        280        290        300
EVVTEIQLEK DQPLVKERDN DTKVKRGAGN GVVPAGVILE RSQPPGEDSD 
       310        320        330        340        350
TDVDDDSRPP GRPAEVHLER AQPFGFIDSD TDAEEERIPA TPVVIPMKKR 
       360        370        380        390        400
KIFHGVGTRG PGAPGLAHLQ ESQAGSDTDV EEGKAPQAVP LEKSQASMVI 
       410        420        430        440        450
NSDTDDEEEV SAALTLAHLK ESQPAIWNRD AEEDMPQRVV LLQRSQTTTE 
       460        470        480        490        500
RDSDTDVEEE ELPVENREAV LKDHTKIRAL VRAHSEKDQP PFGDSDDSVE 
       510        520        530        540        550
ADKSSPGIHL ERSQASTTVD INTQVEKEVP PGSAIIHIKK HQVSVEGTNQ 
       560        570        580        590        600
TDVKAVGGPA KLLVVSLEEA WPLHGDCETD AEEGTSLTAS VVADVRKSQL 
       610        620        630        640        650
PAEGDAGAEW AAAVLKQERA HEVGAQGGPP VAQVEQDLPI SRENLTDLVV 
       660        670        680        690        700
DTDTLGESTQ PQREGAQVPT GREREQHVGG TKDSEDNYGD SEDLDLQATQ 
       710        720        730        740        750
CFLENQGLEA VQSMEDEPTQ AFMLTPPQEL GPSHCSFQTT GLLNCKMPPA 
       760        770        780        790        800
EKASRIRAAE KVSRGDQESP DACLPPTVPE APAPPQKPLN SQSQKHLAPP 
       810        820        830        840        850
PLLSPLLPSI KPTVRKTRQD GSQEAPEAPL SSELEPFHPK PKIRTRKSSR 
       860        870        880        890        900
MTPFPATSAA PEPHPSTSTA QPVTPKPTSQ ATRSRTNRSS VKTPEPVVPT 
       910        920        930        940        950
APELQPSTST DQPVTSEPTS QVTRGRKSRS SVKTPETVVP TALELQPSTS 
       960        970        980        990       1000
TDRPVTSEPT SQATRGRKNR SSVKTPEPVV PTAPELQPST STDQPVTSEP 
      1010       1020       1030       1040       1050
TYQATRGRKN RSSVKTPEPV VPTAPELRPS TSTDRPVTPK PTSRTTRSRT 
      1060       1070       1080       1090       1100
NMSSVKTPET VVPTAPELQI STSTDQPVTP KPTSRTTRSR TNMSSVKNPE 
      1110       1120       1130       1140       1150
STVPIAPELP PSTSTEQPVT PEPTSRATRG RKNRSSGKTP ETLVPTAPKL 
      1160       1170       1180       1190       1200
EPSTSTDQPV TPEPTSQATR GRTNRSSVKT PETVVPTAPE LQPSTSTDQP 
      1210       1220       1230       1240       1250
VTPEPTSQAT RGRTDRSSVK TPETVVPTAP ELQASASTDQ PVTSEPTSRT 
      1260       1270       1280       1290       1300
TRGRKNRSSV KTPETVVPAA PELQPSTSTD QPVTPEPTSR ATRGRTNRSS 
      1310       1320       1330       1340       1350
VKTPESIVPI APELQPSTSR NQLVTPEPTS RATRCRTNRS SVKTPEPVVP 
      1360       1370       1380       1390       1400
TAPEPHPTTS TDQPVTPKLT SRATRRKTNR SSVKTPKPVE PAASDLEPFT 
      1410       1420       1430       1440       1450
PTDQSVTPEA IAQGGQSKTL RSSTVRAMPV PTTPEFQSPV TTDQPISPEP 
      1460       1470       1480       1490       1500
ITQPSCIKRQ RAAGNPGSLA APIDHKPCSA PLEPKSQASR NQRWGAVRAA 
      1510       1520       1530       1540       1550
ESLTAIPEPA SPQLLETPIH ASQIQKVEPA GRSRFTPELQ PKASQSRKRS 
      1560       1570       1580       1590       1600
LATMDSPPHQ KQPQRGEVSQ KTVIIKEEEE DTAEKPGKEE DVVTPKPGKR 
      1610       1620       1630       1640       1650
KRDQAEEEPN RIPSRSLRRT KLNQESTAPK VLFTGVVDAR GERAVLALGG 
      1660       1670       1680       1690       1700
SLAGSAAEAS HLVTDRIRRT VKFLCALGRG IPILSLDWLH QSRKAGFFLP 
      1710       1720       1730       1740       1750
PDEYVVTDPE QEKNFGFSLQ DALSRARERR LLEGYEIYVT PGVQPPPPQM 
      1760       1770       1780       1790       1800
GEIISCCGGT YLPSMPRSYK PQRVVITCPQ DFPHCSIPLR VGLPLLSPEF 
      1810       1820 
LLTGVLKQEA KPEAFVLSPL EMSST

Show »

Length:1,825

Mass (Da):197,598

Checksum:ⁱA8837EC5FB7EC360

Isoform 3 (identifier: Q14676-3) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1124-1410: Missing.

« Hide

        10         20         30         40         50
MEDTQAIDWD VEEEEETEQS SESLRCNVEP VGRLHIFSGA HGPEKDFPLH 
        60         70         80         90        100
LGKNVVGRMP DCSVALPFPS ISKQHAEIEI LAWDKAPILR DCGSLNGTQI 
       110        120        130        140        150
LRPPKVLSPG VSHRLRDQEL ILFADLLCQY HRLDVSLPFV SRGPLTVEET 
       160        170        180        190        200
PRVQGETQPQ RLLLAEDSEE EVDFLSERRM VKKSRTTSSS VIVPESDEEG 
       210        220        230        240        250
HSPVLGGLGP PFAFNLNSDT DVEEGQQPAT EEASSAARRG ATVEAKQSEA 
       260        270        280        290        300
EVVTEIQLEK DQPLVKERDN DTKVKRGAGN GVVPAGVILE RSQPPGEDSD 
       310        320        330        340        350
TDVDDDSRPP GRPAEVHLER AQPFGFIDSD TDAEEERIPA TPVVIPMKKR 
       360        370        380        390        400
KIFHGVGTRG PGAPGLAHLQ ESQAGSDTDV EEGKAPQAVP LEKSQASMVI 
       410        420        430        440        450
NSDTDDEEEV SAALTLAHLK ESQPAIWNRD AEEDMPQRVV LLQRSQTTTE 
       460        470        480        490        500
RDSDTDVEEE ELPVENREAV LKDHTKIRAL VRAHSEKDQP PFGDSDDSVE 
       510        520        530        540        550
ADKSSPGIHL ERSQASTTVD INTQVEKEVP PGSAIIHIKK HQVSVEGTNQ 
       560        570        580        590        600
TDVKAVGGPA KLLVVSLEEA WPLHGDCETD AEEGTSLTAS VVADVRKSQL 
       610        620        630        640        650
PAEGDAGAEW AAAVLKQERA HEVGAQGGPP VAQVEQDLPI SRENLTDLVV 
       660        670        680        690        700
DTDTLGESTQ PQREGAQVPT GREREQHVGG TKDSEDNYGD SEDLDLQATQ 
       710        720        730        740        750
CFLENQGLEA VQSMEDEPTQ AFMLTPPQEL GPSHCSFQTT GTLDEPWEVL 
       760        770        780        790        800
ATQPFCLRES EDSETQPFDT HLEAYGPCLS PPRAIPGDQH PESPVHTEPM 
       810        820        830        840        850
GIQGRGRQTV DKVMGIPKET AERVGPERGP LERETEKLLP ERQTDVTGEE 
       860        870        880        890        900
ELTKGKQDRE QKQLLARDTQ RQESDKNGES ASPERDRESL KVEIETSEEI 
       910        920        930        940        950
QEKQVQKQTL PSKAFEREVE RPVANRECDP AELEEKVPKV ILERDTQRGE 
       960        970        980        990       1000
PEGGSQDQKG QASSPTPEPG VGAGDLPGPT SAPVPSGSQS GGRGSPVSPR 
      1010       1020       1030       1040       1050
RHQKGLLNCK MPPAEKASRI RAAEKVSRGD QESPDACLPP TVPEAPAPPQ 
      1060       1070       1080       1090       1100
KPLNSQSQKH LAPPPLLSPL LPSIKPTVRK TRQDGSQEAP EAPLSSELEP 
      1110       1120       1130       1140       1150
FHPKPKIRTR KSSRMTPFPA TSAAPKLEPS TSTDQPVTPE PTSQATRGRT 
      1160       1170       1180       1190       1200
NRSSVKTPET VVPTAPELQP STSTDQPVTP EPTSQATRGR TDRSSVKTPE 
      1210       1220       1230       1240       1250
TVVPTAPELQ ASASTDQPVT SEPTSRTTRG RKNRSSVKTP ETVVPAAPEL 
      1260       1270       1280       1290       1300
QPSTSTDQPV TPEPTSRATR GRTNRSSVKT PESIVPIAPE LQPSTSRNQL 
      1310       1320       1330       1340       1350
VTPEPTSRAT RCRTNRSSVK TPEPVVPTAP EPHPTTSTDQ PVTPKLTSRA 
      1360       1370       1380       1390       1400
TRRKTNRSSV KTPKPVEPAA SDLEPFTPTD QSVTPEAIAQ GGQSKTLRSS 
      1410       1420       1430       1440       1450
TVRAMPVPTT PEFQSPVTTD QPISPEPITQ PSCIKRQRAA GNPGSLAAPI 
      1460       1470       1480       1490       1500
DHKPCSAPLE PKSQASRNQR WGAVRAAESL TAIPEPASPQ LLETPIHASQ 
      1510       1520       1530       1540       1550
IQKVEPAGRS RFTPELQPKA SQSRKRSLAT MDSPPHQKQP QRGEVSQKTV 
      1560       1570       1580       1590       1600
IIKEEEEDTA EKPGKEEDVV TPKPGKRKRD QAEEEPNRIP SRSLRRTKLN 
      1610       1620       1630       1640       1650
QESTAPKVLF TGVVDARGER AVLALGGSLA GSAAEASHLV TDRIRRTVKF 
      1660       1670       1680       1690       1700
LCALGRGIPI LSLDWLHQSR KAGFFLPPDE YVVTDPEQEK NFGFSLQDAL 
      1710       1720       1730       1740       1750
SRARERRLLE GYEIYVTPGV QPPPPQMGEI ISCCGGTYLP SMPRSYKPQR 
      1760       1770       1780       1790       1800
VVITCPQDFP HCSIPLRVGL PLLSPEFLLT GVLKQEAKPE AFVLSPLEMS 

ST

Note: No experimental confirmation available.

Show »

Length:1,802

Mass (Da):195,986

Checksum:ⁱFF7FB09BDF3E6178

Isoform 4 (identifier: Q14676-4) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
741-1004: Missing.
1029-1787: Missing.

« Hide

        10         20         30         40         50
MEDTQAIDWD VEEEEETEQS SESLRCNVEP VGRLHIFSGA HGPEKDFPLH 
        60         70         80         90        100
LGKNVVGRMP DCSVALPFPS ISKQHAEIEI LAWDKAPILR DCGSLNGTQI 
       110        120        130        140        150
LRPPKVLSPG VSHRLRDQEL ILFADLLCQY HRLDVSLPFV SRGPLTVEET 
       160        170        180        190        200
PRVQGETQPQ RLLLAEDSEE EVDFLSERRM VKKSRTTSSS VIVPESDEEG 
       210        220        230        240        250
HSPVLGGLGP PFAFNLNSDT DVEEGQQPAT EEASSAARRG ATVEAKQSEA 
       260        270        280        290        300
EVVTEIQLEK DQPLVKERDN DTKVKRGAGN GVVPAGVILE RSQPPGEDSD 
       310        320        330        340        350
TDVDDDSRPP GRPAEVHLER AQPFGFIDSD TDAEEERIPA TPVVIPMKKR 
       360        370        380        390        400
KIFHGVGTRG PGAPGLAHLQ ESQAGSDTDV EEGKAPQAVP LEKSQASMVI 
       410        420        430        440        450
NSDTDDEEEV SAALTLAHLK ESQPAIWNRD AEEDMPQRVV LLQRSQTTTE 
       460        470        480        490        500
RDSDTDVEEE ELPVENREAV LKDHTKIRAL VRAHSEKDQP PFGDSDDSVE 
       510        520        530        540        550
ADKSSPGIHL ERSQASTTVD INTQVEKEVP PGSAIIHIKK HQVSVEGTNQ 
       560        570        580        590        600
TDVKAVGGPA KLLVVSLEEA WPLHGDCETD AEEGTSLTAS VVADVRKSQL 
       610        620        630        640        650
PAEGDAGAEW AAAVLKQERA HEVGAQGGPP VAQVEQDLPI SRENLTDLVV 
       660        670        680        690        700
DTDTLGESTQ PQREGAQVPT GREREQHVGG TKDSEDNYGD SEDLDLQATQ 
       710        720        730        740        750
CFLENQGLEA VQSMEDEPTQ AFMLTPPQEL GPSHCSFQTT GLLNCKMPPA 
       760        770        780        790        800
EKASRIRAAE KVSRIQKVEP AGRSRFTPEL QPKASQSRKR SLATMDSPPH 
       810        820        830        840        850
QKQPQRGEVS QKTVIIKEEE EDTAEKPGKE EDVVTPKPGK RKRDQAEEEP 
       860        870        880        890        900
NRIPSRSLRR TKLNQESTAP KVLFTGVVDA RGERAVLALG GSLAGSAAEA 
       910        920        930        940        950
SHLVTDRIRR TVKFLCALGR GIPILSLDWL HQSRKAGFFL PPDEYVVTDP 
       960        970        980        990       1000
EQEKNFGFSL QDALSRARER RLLEGYEIYV TPGVQPPPPQ MGEIISCCGG 
      1010       1020       1030       1040       1050
TYLPSMPRSY KPQRVVITCP QDFPHCSIPL RVGLPLLSPE FLLTGVLKQE 
      1060 
AKPEAFVLSP LEMSST

Note: No experimental confirmation available.

Show »

Length:1,066

Mass (Da):116,634

Checksum:ⁱF3816B14D9E11884

Sequence cautionⁱ

The sequence BAA11487 differs from that shown. Reason: Erroneous initiation.Curated

The sequence CAH18685 differs from that shown. Reason: Erroneous termination at position 1804. Translated as Gln.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	638	L → P in CAH18685 (PubMed:17974005).Curated	1
Sequence conflictⁱ	645 – 1326	Missing in CAH18685 (PubMed:17974005).CuratedAdd BLAST	682
Sequence conflictⁱ	1005	G → GS in BAB63322 (Ref. 3) Curated	1
Sequence conflictⁱ	1041	T → A in BAA11487 (PubMed:8724849).Curated	1
Sequence conflictⁱ	1041	T → A in AAI52557 (PubMed:15489334).Curated	1
Sequence conflictⁱ	1266	Y → S in BAE78617 (PubMed:16702430).Curated	1
Sequence conflictⁱ	1283	P → T in BAE78617 (PubMed:16702430).Curated	1
Sequence conflictⁱ	1533	A → T in BAC54931 (PubMed:16702430).Curated	1
Sequence conflictⁱ	1533	A → T in BAF31266 (PubMed:16702430).Curated	1
Sequence conflictⁱ	1536	E → A in CAM25929 (PubMed:14574404).Curated	1
Sequence conflictⁱ	1664	T → S in BAE78617 (PubMed:16702430).Curated	1
Sequence conflictⁱ	1668	Q → R in CAH18685 (PubMed:17974005).Curated	1
Sequence conflictⁱ	1734	A → T in BAE78617 (PubMed:16702430).Curated	1
Sequence conflictⁱ	1843	E → K (PubMed:17974005).Curated	1
Sequence conflictⁱ	2048	H → R (PubMed:17974005).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_051160	179	R → C. Corresponds to variant dbSNP:rs28986464Ensembl.	1
Natural variantⁱVAR_022843	251	E → K1 PublicationCorresponds to variant dbSNP:rs2517560Ensembl.	1
Natural variantⁱVAR_022844	268	R → K2 PublicationsCorresponds to variant dbSNP:rs9262152Ensembl.	1
Natural variantⁱVAR_022845	371	E → K1 PublicationCorresponds to variant dbSNP:rs2075015Ensembl.	1
Natural variantⁱVAR_051161	386	P → L1 PublicationCorresponds to variant dbSNP:rs28986465Ensembl.	1
Natural variantⁱVAR_043922	536	I → M2 PublicationsCorresponds to variant dbSNP:rs58344693Ensembl.	1
Natural variantⁱVAR_022846	586	S → A1 PublicationCorresponds to variant dbSNP:rs2844707Ensembl.	1
Natural variantⁱVAR_051162	917	R → S. Corresponds to variant dbSNP:rs28986467Ensembl.	1
Natural variantⁱVAR_051163	1100	P → A. Corresponds to variant dbSNP:rs28994869Ensembl.	1
Natural variantⁱVAR_051164	1112	S → F. Corresponds to variant dbSNP:rs28987085Ensembl.	1
Natural variantⁱVAR_051165	1180	S → P1 PublicationCorresponds to variant dbSNP:rs9461623Ensembl.	1
Natural variantⁱVAR_022847	1509	E → D2 PublicationsCorresponds to variant dbSNP:rs3132589Ensembl.	1
Natural variantⁱVAR_022848	1540	S → PCombined sources3 PublicationsCorresponds to variant dbSNP:rs3130645Ensembl.	1
Natural variantⁱVAR_043923	1545	Q → R6 PublicationsCorresponds to variant dbSNP:rs17292678Ensembl.	1
Natural variantⁱVAR_051166	1745	P → R. Corresponds to variant dbSNP:rs28994871Ensembl.	1
Natural variantⁱVAR_051167	1791	V → E. Corresponds to variant dbSNP:rs28994873Ensembl.	1
Natural variantⁱVAR_051168	1855	D → E. Corresponds to variant dbSNP:rs28994874Ensembl.	1
Natural variantⁱVAR_051169	1883	R → Q. Corresponds to variant dbSNP:rs28994875Ensembl.	1
Natural variantⁱVAR_051170	1904	R → Q. Corresponds to variant dbSNP:rs28994876Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Length
Alternative sequenceⁱVSP_014593	741 – 1004	Missing in isoform 2 and isoform 4. 1 PublicationAdd BLAST	264
Alternative sequenceⁱVSP_034103	1029 – 1787	Missing in isoform 4. 1 PublicationAdd BLAST	759
Alternative sequenceⁱVSP_034104	1124 – 1410	Missing in isoform 3. 1 PublicationAdd BLAST	287

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	D79992 mRNA. Translation: BAA11487.2. Different initiation. CR749828 mRNA. Translation: CAH18685.1. Different termination. BA000025 Genomic DNA. Translation: BAB63322.1. AB088099 Genomic DNA. Translation: BAC54931.1. AB202097 Genomic DNA. Translation: BAE78617.1. AB103605 Genomic DNA. Translation: BAF31266.1. AL662848 Genomic DNA. Translation: CAI17440.1. AL662797 Genomic DNA. Translation: CAI18195.1. AL845353 Genomic DNA. Translation: CAI41890.2. AL845353 Genomic DNA. Translation: CAI41891.1. AL662848 Genomic DNA. Translation: CAM24847.1. AL662797 Genomic DNA. Translation: CAM25512.1. BX248307 Genomic DNA. Translation: CAM25928.1. BX248307 Genomic DNA. Translation: CAM25929.1. BX927283 Genomic DNA. Translation: CAQ06769.1. BX927283 Genomic DNA. Translation: CAQ06770.1. CR936878 Genomic DNA. Translation: CAQ06813.1. CR936878 Genomic DNA. Translation: CAQ06814.1. CR788240 Genomic DNA. Translation: CAQ07571.1. CR788240 Genomic DNA. Translation: CAQ07572.1. CR759873 Genomic DNA. Translation: CAQ08690.1. CR759873 Genomic DNA. Translation: CAQ08691.1. CH471081 Genomic DNA. Translation: EAX03321.1. BC110645 mRNA. Translation: AAI10646.1. BC152556 mRNA. Translation: AAI52557.1.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS34384.1. [Q14676-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_055456.2. NM_014641.2. [Q14676-1] XP_005249551.1. XM_005249494.4. [Q14676-1] XP_011513303.1. XM_011515001.2. [Q14676-1] XP_011513305.1. XM_011515003.2. [Q14676-1] XP_016867008.1. XM_017011519.1. [Q14676-1]
UniGeneⁱ	Hs.653495.

Genome annotation databases

Ensemblⁱ	ENST00000376406; ENSP00000365588; ENSG00000137337. [Q14676-1] ENST00000383566; ENSP00000373060; ENSG00000206481. ENST00000420019; ENSP00000396484; ENSG00000224587. [Q14676-1] ENST00000420320; ENSP00000416511; ENSG00000225589. [Q14676-1] ENST00000427406; ENSP00000387429; ENSG00000234012. [Q14676-1] ENST00000435664; ENSP00000404318; ENSG00000231135. ENST00000440369; ENSP00000415212; ENSG00000228575. [Q14676-1] ENST00000449153; ENSP00000409167; ENSG00000237095. [Q14676-1]
GeneIDⁱ	9656.
KEGGⁱ	hsa:9656.
UCSC genome browser More...UCSCⁱ	uc003nrg.5. human. [Q14676-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	D79992 mRNA. Translation: BAA11487.2. Different initiation. CR749828 mRNA. Translation: CAH18685.1. Different termination. BA000025 Genomic DNA. Translation: BAB63322.1. AB088099 Genomic DNA. Translation: BAC54931.1. AB202097 Genomic DNA. Translation: BAE78617.1. AB103605 Genomic DNA. Translation: BAF31266.1. AL662848 Genomic DNA. Translation: CAI17440.1. AL662797 Genomic DNA. Translation: CAI18195.1. AL845353 Genomic DNA. Translation: CAI41890.2. AL845353 Genomic DNA. Translation: CAI41891.1. AL662848 Genomic DNA. Translation: CAM24847.1. AL662797 Genomic DNA. Translation: CAM25512.1. BX248307 Genomic DNA. Translation: CAM25928.1. BX248307 Genomic DNA. Translation: CAM25929.1. BX927283 Genomic DNA. Translation: CAQ06769.1. BX927283 Genomic DNA. Translation: CAQ06770.1. CR936878 Genomic DNA. Translation: CAQ06813.1. CR936878 Genomic DNA. Translation: CAQ06814.1. CR788240 Genomic DNA. Translation: CAQ07571.1. CR788240 Genomic DNA. Translation: CAQ07572.1. CR759873 Genomic DNA. Translation: CAQ08690.1. CR759873 Genomic DNA. Translation: CAQ08691.1. CH471081 Genomic DNA. Translation: EAX03321.1. BC110645 mRNA. Translation: AAI10646.1. BC152556 mRNA. Translation: AAI52557.1.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS34384.1. [Q14676-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_055456.2. NM_014641.2. [Q14676-1] XP_005249551.1. XM_005249494.4. [Q14676-1] XP_011513303.1. XM_011515001.2. [Q14676-1] XP_011513305.1. XM_011515003.2. [Q14676-1] XP_016867008.1. XM_017011519.1. [Q14676-1]
UniGeneⁱ	Hs.653495.

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2ADO	X-ray	1.45	A/B	1891-2086	[»]
	2AZM	X-ray	2.41	A/B	1883-2089	[»]
	2ETX	X-ray	1.33	A/B	1884-2089	[»]
	3K05	X-ray	1.33	A/B	1891-2089	[»]
	3UEO	X-ray	2.60	E/F	325-336	[»]
	3UMZ	X-ray	1.65	A/B	27-138	[»]
	3UN0	X-ray	2.30	A/B	26-138	[»]
	3UNM	X-ray	1.80	A/B	27-138	[»]
	3UNN	X-ray	1.70	A	27-138	[»]
				B	1-8	[»]
	3UOT	X-ray	1.80	A/B	19-138	[»]
				D/E	1-10	[»]
ProteinModelPortalⁱ	Q14676.
SMRⁱ	Q14676.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	115014. 194 interactors.
Database of interacting proteins More...DIPⁱ	DIP-33603N.
IntActⁱ	Q14676. 21 interactors.
Molecular INTeraction database More...MINTⁱ	MINT-259925.
STRINGⁱ	9606.ENSP00000365588.

PTM databases

iPTMnetⁱ	Q14676.
PhosphoSitePlusⁱ	Q14676.
SwissPalmⁱ	Q14676.

Polymorphism and mutation databases

BioMutaⁱ	MDC1.

BioMutaⁱ

MDC1.

Proteomic databases

EPDⁱ	Q14676.
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q14676.
PaxDbⁱ	Q14676.
PeptideAtlas More...PeptideAtlasⁱ	Q14676.
PRIDEⁱ	Q14676.

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000376406; ENSP00000365588; ENSG00000137337. [Q14676-1] ENST00000383566; ENSP00000373060; ENSG00000206481. ENST00000420019; ENSP00000396484; ENSG00000224587. [Q14676-1] ENST00000420320; ENSP00000416511; ENSG00000225589. [Q14676-1] ENST00000427406; ENSP00000387429; ENSG00000234012. [Q14676-1] ENST00000435664; ENSP00000404318; ENSG00000231135. ENST00000440369; ENSP00000415212; ENSG00000228575. [Q14676-1] ENST00000449153; ENSP00000409167; ENSG00000237095. [Q14676-1]
GeneIDⁱ	9656.
KEGGⁱ	hsa:9656.
UCSC genome browser More...UCSCⁱ	uc003nrg.5. human. [Q14676-1]

Organism-specific databases

CTDⁱ	9656.
DisGeNET More...DisGeNETⁱ	9656.
GeneCardsⁱ	MDC1.
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:21163. MDC1.
Human Protein Atlas More...HPAⁱ	HPA006915.
MIMⁱ	607593. gene.
neXtProtⁱ	NX_Q14676.
Open Targets More...OpenTargetsⁱ	ENSG00000137337.
PharmGKBⁱ	PA134942837.
HUGEⁱ	Search...
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2043. Eukaryota. ENOG4111RPS. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00600000084454.
HOVERGENⁱ	HBG080567.
InParanoidⁱ	Q14676.
KEGG Orthology (KO) More...KOⁱ	K20780.
OMAⁱ	FPLYLGK.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0V3Z.
PhylomeDBⁱ	Q14676.
TreeFamⁱ	TF329580.

Enzyme and pathway databases

Reactomeⁱ	R-HSA-3108214. SUMOylation of DNA damage response and repair proteins. R-HSA-5693565. Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks. R-HSA-5693571. Nonhomologous End-Joining (NHEJ). R-HSA-5693607. Processing of DNA double-strand break ends. R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes. R-HSA-69473. G2/M DNA damage checkpoint.
SignaLinkⁱ	Q14676.
SIGNORⁱ	Q14676.

Miscellaneous databases

ChiTaRSⁱ	MDC1. human.
EvolutionaryTraceⁱ	Q14676.
GeneWikiⁱ	MDC1.
GenomeRNAiⁱ	9656.
Protein Ontology More...PROⁱ	PR:Q14676.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000137337.
ExpressionAtlasⁱ	Q14676. baseline and differential.
Genevisibleⁱ	Q14676. HS.

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00027. BRCT. 1 hit.
Gene3Dⁱ	3.40.50.10190. 2 hits.
InterProⁱ	View protein in InterPro IPR001357. BRCT_dom. IPR000253. FHA_dom. IPR008984. SMAD_FHA_domain.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00498. FHA. 1 hit. PF16770. RTT107_BRCT_5. 1 hit.
SMARTⁱ	View protein in SMART SM00240. FHA. 1 hit.
SUPFAMⁱ	SSF49879. SSF49879. 1 hit. SSF52113. SSF52113. 1 hit.
PROSITEⁱ	View protein in PROSITE PS50172. BRCT. 1 hit. PS50006. FHA_DOMAIN. 1 hit.
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	MDC1_HUMAN
Accessionⁱ	Q14676Primary (citable) accession number: Q14676 Secondary accession number(s): A2AB04 Q96QC2
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 5, 2005
	Last sequence update:	July 5, 2005
	Last modified:	June 7, 2017
	This is version 175 of the entry and version 3 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 6
Human chromosome 6: 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
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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UniProtKB - Q14676 (MDC1_HUMAN)

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Mediator of DNA damage checkpoint protein 1

MDC1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Compositional bias

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4)i

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Documents

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequences (4)ⁱ

Sequence cautionⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ