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Q9NVC6

- MED17_HUMAN

UniProt

Q9NVC6 - MED17_HUMAN

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Protein

Mediator of RNA polymerase II transcription subunit 17

Gene

MED17

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors.1 Publication

GO - Molecular functioni

  1. ligand-dependent nuclear receptor transcription coactivator activity Source: UniProtKB
  2. receptor activity Source: UniProtKB
  3. RNA polymerase II transcription cofactor activity Source: UniProtKB
  4. thyroid hormone receptor binding Source: UniProtKB
  5. transcription coactivator activity Source: MGI
  6. transcription cofactor activity Source: UniProtKB
  7. vitamin D receptor binding Source: UniProtKB

GO - Biological processi

  1. androgen receptor signaling pathway Source: UniProtKB
  2. gene expression Source: Reactome
  3. intracellular steroid hormone receptor signaling pathway Source: UniProtKB
  4. positive regulation of transcription, DNA-templated Source: UniProtKB
  5. positive regulation of transcription from RNA polymerase II promoter Source: MGI
  6. regulation of transcription from RNA polymerase II promoter Source: MGI
  7. stem cell maintenance Source: Ensembl
  8. transcription initiation from RNA polymerase II promoter Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiREACT_116145. PPARA activates gene expression.
REACT_12627. Generic Transcription Pathway.
REACT_27161. Transcriptional regulation of white adipocyte differentiation.

Names & Taxonomyi

Protein namesi
Recommended name:
Mediator of RNA polymerase II transcription subunit 17
Alternative name(s):
Activator-recruited cofactor 77 kDa component
Short name:
ARC77
Cofactor required for Sp1 transcriptional activation subunit 6
Short name:
CRSP complex subunit 6
Mediator complex subunit 17
Thyroid hormone receptor-associated protein complex 80 kDa component
Short name:
Trap80
Transcriptional coactivator CRSP77
Vitamin D3 receptor-interacting protein complex 80 kDa component
Short name:
DRIP80
Gene namesi
Name:MED17
Synonyms:ARC77, CRSP6, DRIP77, DRIP80, TRAP80
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:2375. MED17.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. mediator complex Source: UniProtKB
  2. membrane Source: UniProtKB
  3. nucleoplasm Source: Reactome
  4. nucleus Source: UniProtKB
  5. transcription factor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA) [MIM:613668]: A disorder characterized by postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. Infants manifest swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation, truncal arching, seizures. There is no acquisition of developmental milestones and patients suffer from marked spasticity and profound retardation. Progressive microcephaly becomes evident few months after birth.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti371 – 3711L → P in MCPHSBA. 1 Publication
VAR_065066

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi613668. phenotype.
Orphaneti402364. Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly.
PharmGKBiPA162395443.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 651651Mediator of RNA polymerase II transcription subunit 17PRO_0000079359Add
BLAST

Proteomic databases

MaxQBiQ9NVC6.
PaxDbiQ9NVC6.
PRIDEiQ9NVC6.

PTM databases

PhosphoSiteiQ9NVC6.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiQ9NVC6.
CleanExiHS_MED17.
ExpressionAtlasiQ9NVC6. baseline and differential.
GenevestigatoriQ9NVC6.

Interactioni

Subunit structurei

Interacts with GATA1 and PPARG (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with STAT2.By similarity8 Publications

Protein-protein interaction databases

BioGridi114830. 58 interactions.
DIPiDIP-31451N.
IntActiQ9NVC6. 17 interactions.
MINTiMINT-275744.
STRINGi9606.ENSP00000251871.

Structurei

3D structure databases

ProteinModelPortaliQ9NVC6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Mediator complex subunit 17 family.Curated

Phylogenomic databases

eggNOGiNOG310166.
GeneTreeiENSGT00390000011810.
HOGENOMiHOG000008073.
HOVERGENiHBG103247.
InParanoidiQ9NVC6.
KOiK15133.
OMAiPPKQNPQ.
OrthoDBiEOG7W9RT5.
PhylomeDBiQ9NVC6.
TreeFamiTF323615.

Family and domain databases

InterProiIPR019313. Mediator_Med17.
[Graphical view]
PfamiPF10156. Med17. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NVC6-1) [UniParc]FASTAAdd 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
MSGVRAVRIS IESACEKQVH EVGLDGTETY LPPLSMSQNL ARLAQRIDFS
60 70 80 90 100
QGSGSEEEEA AGTEGDAQEW PGAGSSADQD DEEGVVKFQP SLWPWDSVRN
110 120 130 140 150
NLRSALTEMC VLYDVLSIVR DKKFMTLDPV SQDALPPKQN PQTLQLISKK
160 170 180 190 200
KSLAGAAQIL LKGAERLTKS VTENQENKLQ RDFNSELLRL RQHWKLRKVG
210 220 230 240 250
DKILGDLSYR SAGSLFPHHG TFEVIKNTDL DLDKKIPEDY CPLDVQIPSD
260 270 280 290 300
LEGSAYIKVS IQKQAPDIGD LGTVNLFKRP LPKSKPGSPH WQTKLEAAQN
310 320 330 340 350
VLLCKEIFAQ LSREAVQIKS QVPHIVVKNQ IISQPFPSLQ LSISLCHSSN
360 370 380 390 400
DKKSQKFATE KQCPEDHLYV LEHNLHLLIR EFHKQTLSSI MMPHPASAPF
410 420 430 440 450
GHKRMRLSGP QAFDKNEINS LQSSEGLLEK IIKQAKHIFL RSRAAATIDS
460 470 480 490 500
LASRIEDPQI QAHWSNINDV YESSVKVLIT SQGYEQICKS IQLQLNIGVE
510 520 530 540 550
QIRVVHRDGR VITLSYQEQE LQDFLLSQMS QHQVHAVQQL AKVMGWQVLS
560 570 580 590 600
FSNHVGLGPI ESIGNASAIT VASPSGDYAI SVRNGPESGS KIMVQFPRNQ
610 620 630 640 650
CKDLPKSDVL QDNKWSHLRG PFKEVQWNKM EGRNFVYKME LLMSALSPCL

L
Length:651
Mass (Da):72,890
Last modified:May 18, 2010 - v2
Checksum:i47011210952D287B
GO
Isoform 2 (identifier: Q9NVC6-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-145: NPQTLQ → VFVDFN
     146-651: Missing.

Show »
Length:145
Mass (Da):15,951
Checksum:i20AE08169FD09570
GO

Sequence cautioni

The sequence AAD30856.1 differs from that shown. Reason: Frameshift at positions 333, 335, 341 and 346. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti21 – 211E → G in BAB13973. (PubMed:14702039)Curated
Sequence conflicti58 – 581E → G in BAB13973. (PubMed:14702039)Curated
Sequence conflicti356 – 3561K → N in AAD30856. (PubMed:10235266)Curated
Sequence conflicti409 – 4091G → Q AA sequence (PubMed:10198638)Curated
Sequence conflicti531 – 5311Q → H in AAD12723. (PubMed:9989412)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti69 – 691E → D.6 Publications
Corresponds to variant rs2848477 [ dbSNP | Ensembl ].
VAR_063126
Natural varianti357 – 3571F → L.
Corresponds to variant rs35313315 [ dbSNP | Ensembl ].
VAR_057781
Natural varianti371 – 3711L → P in MCPHSBA. 1 Publication
VAR_065066

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei140 – 1456NPQTLQ → VFVDFN in isoform 2. 1 PublicationVSP_028115
Alternative sequencei146 – 651506Missing in isoform 2. 1 PublicationVSP_028116Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF117657 mRNA. Translation: AAD22031.2.
AF105421 mRNA. Translation: AAD30856.1. Frameshift.
AK001674 mRNA. Translation: BAA91827.1.
AK022156 mRNA. Translation: BAB13973.1.
AK023209 mRNA. Translation: BAG51169.1.
AC022150 Genomic DNA. No translation available.
BC021101 mRNA. Translation: AAH21101.1.
AF104254 mRNA. Translation: AAD12723.1.
CCDSiCCDS8295.1. [Q9NVC6-1]
RefSeqiNP_004259.3. NM_004268.4. [Q9NVC6-1]
UniGeneiHs.444931.

Genome annotation databases

EnsembliENST00000251871; ENSP00000251871; ENSG00000042429. [Q9NVC6-1]
ENST00000530819; ENSP00000434459; ENSG00000042429. [Q9NVC6-2]
GeneIDi9440.
KEGGihsa:9440.
UCSCiuc001pel.2. human. [Q9NVC6-2]
uc001pem.4. human. [Q9NVC6-1]

Polymorphism databases

DMDMi296437366.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF117657 mRNA. Translation: AAD22031.2 .
AF105421 mRNA. Translation: AAD30856.1 . Frameshift.
AK001674 mRNA. Translation: BAA91827.1 .
AK022156 mRNA. Translation: BAB13973.1 .
AK023209 mRNA. Translation: BAG51169.1 .
AC022150 Genomic DNA. No translation available.
BC021101 mRNA. Translation: AAH21101.1 .
AF104254 mRNA. Translation: AAD12723.1 .
CCDSi CCDS8295.1. [Q9NVC6-1 ]
RefSeqi NP_004259.3. NM_004268.4. [Q9NVC6-1 ]
UniGenei Hs.444931.

3D structure databases

ProteinModelPortali Q9NVC6.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114830. 58 interactions.
DIPi DIP-31451N.
IntActi Q9NVC6. 17 interactions.
MINTi MINT-275744.
STRINGi 9606.ENSP00000251871.

PTM databases

PhosphoSitei Q9NVC6.

Polymorphism databases

DMDMi 296437366.

Proteomic databases

MaxQBi Q9NVC6.
PaxDbi Q9NVC6.
PRIDEi Q9NVC6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000251871 ; ENSP00000251871 ; ENSG00000042429 . [Q9NVC6-1 ]
ENST00000530819 ; ENSP00000434459 ; ENSG00000042429 . [Q9NVC6-2 ]
GeneIDi 9440.
KEGGi hsa:9440.
UCSCi uc001pel.2. human. [Q9NVC6-2 ]
uc001pem.4. human. [Q9NVC6-1 ]

Organism-specific databases

CTDi 9440.
GeneCardsi GC11P093517.
H-InvDB HIX0010027.
HGNCi HGNC:2375. MED17.
MIMi 603810. gene.
613668. phenotype.
neXtProti NX_Q9NVC6.
Orphaneti 402364. Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly.
PharmGKBi PA162395443.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG310166.
GeneTreei ENSGT00390000011810.
HOGENOMi HOG000008073.
HOVERGENi HBG103247.
InParanoidi Q9NVC6.
KOi K15133.
OMAi PPKQNPQ.
OrthoDBi EOG7W9RT5.
PhylomeDBi Q9NVC6.
TreeFami TF323615.

Enzyme and pathway databases

Reactomei REACT_116145. PPARA activates gene expression.
REACT_12627. Generic Transcription Pathway.
REACT_27161. Transcriptional regulation of white adipocyte differentiation.

Miscellaneous databases

ChiTaRSi MED17. human.
GeneWikii MED17.
GenomeRNAii 9440.
NextBioi 35350.
PROi Q9NVC6.
SOURCEi Search...

Gene expression databases

Bgeei Q9NVC6.
CleanExi HS_MED17.
ExpressionAtlasi Q9NVC6. baseline and differential.
Genevestigatori Q9NVC6.

Family and domain databases

InterProi IPR019313. Mediator_Med17.
[Graphical view ]
Pfami PF10156. Med17. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators."
    Ito M., Yuan C.-X., Malik S., Gu W., Fondell J.D., Yamamura S., Fu Z.-Y., Zhang X., Qin J., Roeder R.G.
    Mol. Cell 3:361-370(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 306-319; 405-415 AND 592-602, TISSUE SPECIFICITY, IDENTIFICATION IN TRAP COMPLEX, VARIANT ASP-69.
    Tissue: Cervix carcinoma.
  2. "Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex."
    Rachez C., Lemon B.D., Suldan Z., Bromleigh V., Gamble M., Naeaer A.M., Erdjument-Bromage H., Tempst P., Freedman L.P.
    Nature 398:824-828(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 88-99 AND 607-619, IDENTIFICATION IN ARC COMPLEX, VARIANT ASP-69.
    Tissue: Cervix carcinoma.
  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.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ASP-69.
    Tissue: Embryo.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] (ISOFORM 1), VARIANT ASP-69.
    Tissue: Skin.
  6. "The transcriptional cofactor complex CRSP is required for activity of the enhancer-binding protein Sp1."
    Ryu S., Zhou S., Ladurner A.G., Tjian R.
    Nature 397:446-450(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 269-651 (ISOFORM 1).
  7. "Composite co-activator ARC mediates chromatin-directed transcriptional activation."
    Naeaer A.M., Beaurang P.A., Zhou S., Abraham S., Solomon W.B., Tjian R.
    Nature 398:828-832(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN ARC COMPLEX, PROTEIN SEQUENCE OF 168-179 AND 355-361.
  8. "Identification of mammalian Mediator subunits with similarities to yeast Mediator subunits Srb5, Srb6, Med11, and Rox3."
    Sato S., Tomomori-Sato C., Banks C.A.S., Sorokina I., Parmely T.J., Kong S.E., Jin J., Cai Y., Lane W.S., Brower C.S., Conaway R.C., Conaway J.W.
    J. Biol. Chem. 278:15123-15127(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MED10.
  9. "Role of metazoan mediator proteins in interferon-responsive transcription."
    Lau J.F., Nusinzon I., Burakov D., Freedman L.P., Horvath C.M.
    Mol. Cell. Biol. 23:620-628(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH STAT2.
  10. "A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology."
    Sato S., Tomomori-Sato C., Parmely T.J., Florens L., Zybailov B., Swanson S.K., Banks C.A.S., Jin J., Cai Y., Washburn M.P., Conaway J.W., Conaway R.C.
    Mol. Cell 14:685-691(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE MEDIATOR COMPLEX.
  11. "MED1/TRAP220 exists predominantly in a TRAP/Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription."
    Zhang X., Krutchinsky A., Fukuda A., Chen W., Yamamura S., Chait B.T., Roeder R.G.
    Mol. Cell 19:89-100(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH MED1; MED10; MED18; MED21; MED28 AND MED30, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE MEDIATOR COMPLEX, ASSOCIATION OF THE MEDIATOR COMPLEX WITH RNA POLYMERASE II.
  12. "Human Mediator enhances basal transcription by facilitating recruitment of transcription factor IIB during preinitiation complex assembly."
    Baek H.J., Kang Y.K., Roeder R.G.
    J. Biol. Chem. 281:15172-15181(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH MED1 AND MED10.
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. "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: VARIANT [LARGE SCALE ANALYSIS] ASP-69, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  16. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASP-69, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  17. "Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex."
    Kaufmann R., Straussberg R., Mandel H., Fattal-Valevski A., Ben-Zeev B., Naamati A., Shaag A., Zenvirt S., Konen O., Mimouni-Bloch A., Dobyns W.B., Edvardson S., Pines O., Elpeleg O.
    Am. J. Hum. Genet. 87:667-670(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCPHSBA PRO-371.

Entry informationi

Entry nameiMED17_HUMAN
AccessioniPrimary (citable) accession number: Q9NVC6
Secondary accession number(s): B3KN07
, Q9HA81, Q9UNP7, Q9Y2W0, Q9Y660
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 28, 2003
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3