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Q9NVC6 (MED17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:MED17
Synonyms:ARC77, CRSP6, DRIP77, DRIP80, TRAP80
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length651 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.12

Subunit structure

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. Ref.1 Ref.2 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12

Subcellular location

Nucleus Probable.

Tissue specificity

Ubiquitous. Ref.1

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17

Sequence similarities

Belongs to the Mediator complex subunit 17 family.

Sequence caution

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

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   Molecular functionActivator
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processandrogen receptor signaling pathway

Inferred from direct assay PubMed 12218053. Source: UniProtKB

gene expression

Traceable author statement. Source: Reactome

intracellular steroid hormone receptor signaling pathway

Inferred from direct assay PubMed 11867769. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 12037571. Source: MGI

positive regulation of transcription, DNA-templated

Inferred from direct assay Ref.1. Source: UniProtKB

regulation of transcription from RNA polymerase II promoter

Inferred from direct assay Ref.6. Source: MGI

stem cell maintenance

Inferred from electronic annotation. Source: Ensembl

transcription initiation from RNA polymerase II promoter

Inferred from direct assay PubMed 12218053. Source: UniProtKB

   Cellular_componentmediator complex

Inferred from direct assay Ref.1. Source: UniProtKB

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay Ref.7. Source: UniProtKB

transcription factor complex

Inferred from direct assay Ref.6. Source: MGI

   Molecular_functionRNA polymerase II transcription cofactor activity

Inferred from direct assay Ref.1. Source: UniProtKB

ligand-dependent nuclear receptor transcription coactivator activity

Non-traceable author statement Ref.2. Source: UniProtKB

receptor activity

Inferred from direct assay PubMed 12218053. Source: UniProtKB

thyroid hormone receptor binding

Inferred from direct assay Ref.1. Source: UniProtKB

transcription coactivator activity

Inferred from direct assay PubMed 12037571. Source: MGI

transcription cofactor activity

Inferred from direct assay PubMed 12218053. Source: UniProtKB

vitamin D receptor binding

Non-traceable author statement Ref.2. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NVC6-1)

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.
Isoform 2 (identifier: Q9NVC6-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 651651Mediator of RNA polymerase II transcription subunit 17
PRO_0000079359

Natural variations

Alternative sequence140 – 1456NPQTLQ → VFVDFN in isoform 2.
VSP_028115
Alternative sequence146 – 651506Missing in isoform 2.
VSP_028116
Natural variant691E → D. Ref.1 Ref.2 Ref.3 Ref.5 Ref.15 Ref.16
Corresponds to variant rs2848477 [ dbSNP | Ensembl ].
VAR_063126
Natural variant3571F → L.
Corresponds to variant rs35313315 [ dbSNP | Ensembl ].
VAR_057781
Natural variant3711L → P in MCPHSBA. Ref.17
VAR_065066

Experimental info

Sequence conflict211E → G in BAB13973. Ref.3
Sequence conflict581E → G in BAB13973. Ref.3
Sequence conflict3561K → N in AAD30856. Ref.2
Sequence conflict4091G → Q AA sequence Ref.1
Sequence conflict5311Q → H in AAD12723. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 47011210952D287B

FASTA65172,890
        10         20         30         40         50         60 
MSGVRAVRIS IESACEKQVH EVGLDGTETY LPPLSMSQNL ARLAQRIDFS QGSGSEEEEA 

        70         80         90        100        110        120 
AGTEGDAQEW PGAGSSADQD DEEGVVKFQP SLWPWDSVRN NLRSALTEMC VLYDVLSIVR 

       130        140        150        160        170        180 
DKKFMTLDPV SQDALPPKQN PQTLQLISKK KSLAGAAQIL LKGAERLTKS VTENQENKLQ 

       190        200        210        220        230        240 
RDFNSELLRL RQHWKLRKVG DKILGDLSYR SAGSLFPHHG TFEVIKNTDL DLDKKIPEDY 

       250        260        270        280        290        300 
CPLDVQIPSD LEGSAYIKVS IQKQAPDIGD LGTVNLFKRP LPKSKPGSPH WQTKLEAAQN 

       310        320        330        340        350        360 
VLLCKEIFAQ LSREAVQIKS QVPHIVVKNQ IISQPFPSLQ LSISLCHSSN DKKSQKFATE 

       370        380        390        400        410        420 
KQCPEDHLYV LEHNLHLLIR EFHKQTLSSI MMPHPASAPF GHKRMRLSGP QAFDKNEINS 

       430        440        450        460        470        480 
LQSSEGLLEK IIKQAKHIFL RSRAAATIDS LASRIEDPQI QAHWSNINDV YESSVKVLIT 

       490        500        510        520        530        540 
SQGYEQICKS IQLQLNIGVE QIRVVHRDGR VITLSYQEQE LQDFLLSQMS QHQVHAVQQL 

       550        560        570        580        590        600 
AKVMGWQVLS FSNHVGLGPI ESIGNASAIT VASPSGDYAI SVRNGPESGS KIMVQFPRNQ 

       610        620        630        640        650 
CKDLPKSDVL QDNKWSHLRG PFKEVQWNKM EGRNFVYKME LLMSALSPCL L 

« Hide

Isoform 2 [UniParc].

Checksum: 20AE08169FD09570
Show »

FASTA14515,951

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
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]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[14]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_004259.3. NM_004268.4.
UniGeneHs.444931.

3D structure databases

ProteinModelPortalQ9NVC6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114830. 53 interactions.
DIPDIP-31451N.
IntActQ9NVC6. 17 interactions.
MINTMINT-275744.
STRING9606.ENSP00000251871.

PTM databases

PhosphoSiteQ9NVC6.

Polymorphism databases

DMDM296437366.

Proteomic databases

PaxDbQ9NVC6.
PRIDEQ9NVC6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000251871; ENSP00000251871; ENSG00000042429. [Q9NVC6-1]
ENST00000530819; ENSP00000434459; ENSG00000042429. [Q9NVC6-2]
GeneID9440.
KEGGhsa:9440.
UCSCuc001pel.2. human. [Q9NVC6-2]
uc001pem.4. human. [Q9NVC6-1]

Organism-specific databases

CTD9440.
GeneCardsGC11P093517.
H-InvDBHIX0010027.
HGNCHGNC:2375. MED17.
MIM603810. gene.
613668. phenotype.
neXtProtNX_Q9NVC6.
PharmGKBPA162395443.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG310166.
HOGENOMHOG000008073.
HOVERGENHBG103247.
InParanoidQ9NVC6.
KOK15133.
OMAPPKQNPQ.
OrthoDBEOG7W9RT5.
PhylomeDBQ9NVC6.
TreeFamTF323615.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
REACT_71. Gene Expression.

Gene expression databases

ArrayExpressQ9NVC6.
BgeeQ9NVC6.
CleanExHS_MED17.
GenevestigatorQ9NVC6.

Family and domain databases

InterProIPR019313. Mediator_Med17.
[Graphical view]
PfamPF10156. Med17. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMED17. human.
GeneWikiMED17.
GenomeRNAi9440.
NextBio35350.
PROQ9NVC6.
SOURCESearch...

Entry information

Entry nameMED17_HUMAN
AccessionPrimary (citable) accession number: Q9NVC6
Secondary accession number(s): B3KN07 expand/collapse secondary AC list , Q9HA81, Q9UNP7, Q9Y2W0, Q9Y660
Entry history
Integrated into UniProtKB/Swiss-Prot: February 28, 2003
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 114 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM