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Q13472 (TOP3A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 129. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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:
DNA topoisomerase 3-alpha

EC=5.99.1.2
Alternative name(s):
DNA topoisomerase III alpha
Gene names
Name:TOP3A
Synonyms:TOP3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1001 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. The free DNA strand then undergoes passage around the unbroken strand thus removing DNA supercoils. Finally, in the religation step, the DNA 3'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone. Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Has DNA decatenation activity. Ref.1 Ref.11

Catalytic activity

ATP-independent breakage of single-stranded DNA, followed by passage and rejoining. Ref.1 Ref.11

Cofactor

Magnesium. Ref.11

Subunit structure

Interacts (via N-terminus region) with BLM; the interaction is direct. Directly interacts with RMI1. Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with BLM. Ref.7 Ref.8 Ref.9 Ref.11 Ref.12

Tissue specificity

High expression is found in testis, heart, skeletal muscle and pancreas.

Sequence similarities

Belongs to the type IA topoisomerase family.

Contains 1 Toprim domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform Long (identifier: Q13472-1)

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 Short (identifier: Q13472-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: Missing.
Isoform 3 (identifier: Q13472-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-105: MIFPVARYAL...HDFQMQFRKW → MNLIIICMAR
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10011001DNA topoisomerase 3-alpha
PRO_0000145190

Regions

Domain35 – 179145Toprim
Repeat812 – 839281
Repeat896 – 923282
Zinc finger658 – 68528C4-type Potential
Region812 – 9231122 X 27 AA approximate repeats

Sites

Active site3621O-(5'-phospho-DNA)-tyrosine intermediate By similarity

Natural variations

Alternative sequence1 – 105105MIFPV…QFRKW → MNLIIICMAR in isoform 3.
VSP_054189
Alternative sequence1 – 2525Missing in isoform Short.
VSP_006524
Natural variant4591D → N.
Corresponds to variant rs28671051 [ dbSNP | Ensembl ].
VAR_052588
Natural variant5961C → Y.
VAR_007529
Natural variant7421D → N.
Corresponds to variant rs9909732 [ dbSNP | Ensembl ].
VAR_052589
Natural variant7731N → D.
Corresponds to variant rs9911283 [ dbSNP | Ensembl ].
VAR_052590

Sequences

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

Last modified November 1, 1997. Version 1.
Checksum: 06558C749569E0C2

FASTA1,001112,372
        10         20         30         40         50         60 
MIFPVARYAL RWLRRPEDRA FSRAAMEMAL RGVRKVLCVA EKNDAAKGIA DLLSNGRMRR 

        70         80         90        100        110        120 
REGLSKFNKI YEFDYHLYGQ NVTMVMTSVS GHLLAHDFQM QFRKWQSCNP LVLFEAEIEK 

       130        140        150        160        170        180 
YCPENFVDIK KTLERETRQC QALVIWTDCD REGENIGFEI IHVCKAVKPN LQVLRARFSE 

       190        200        210        220        230        240 
ITPHAVRTAC ENLTEPDQRV SDAVDVRQEL DLRIGAAFTR FQTLRLQRIF PEVLAEQLIS 

       250        260        270        280        290        300 
YGSCQFPTLG FVVERFKAIQ AFVPEIFHRI KVTHDHKDGI VEFNWKRHRL FNHTACLVLY 

       310        320        330        340        350        360 
QLCVEDPMAT VVEVRSKPKS KWRPQALDTV ELEKLASRKL RINAKETMRI AEKLYTQGYI 

       370        380        390        400        410        420 
SYPRTETNIF PRDLNLTVLV EQQTPDPRWG AFAQSILERG GPTPRNGNKS DQAHPPIHPT 

       430        440        450        460        470        480 
KYTNNLQGDE QRLYEFIVRH FLACCSQDAQ GQETTVEIDI AQERFVAHGL MILARNYLDV 

       490        500        510        520        530        540 
YPYDHWSDKI LPVYEQGSHF QPSTVEMVDG ETSPPKLLTE ADLIALMEKH GIGTDATHAE 

       550        560        570        580        590        600 
HIETIKARMY VGLTPDKRFL PGHLGMGLVE GYDSMGYEMS KPDLRAELEA DLKLICDGKK 

       610        620        630        640        650        660 
DKFVVLRQQV QKYKQVFIEA VAKAKKLDEA LAQYFGNGTE LAQQEDIYPA MPEPIRKCPQ 

       670        680        690        700        710        720 
CNKDMVLKTK KNGGFYLSCM GFPECRSAVW LPDSVLEASR DSSVCPVCQP HPVYRLKLKF 

       730        740        750        760        770        780 
KRGSLPPTMP LEFVCCIGGC DDTLREILDL RFSGGPPRAS QPSGRLQANQ SLNRMDNSQH 

       790        800        810        820        830        840 
PQPADSRQTG SSKALAQTLP PPTAAGESNS VTCNCGQEAV LLTVRKEGPN RGRQFFKCNG 

       850        860        870        880        890        900 
GSCNFFLWAD SPNPGAGGPP ALAYRPLGAS LGCPPGPGIH LGGFGNPGDG SGSGTSCLCS 

       910        920        930        940        950        960 
QPSVTRTVQK DGPNKGRQFH TCAKPREQQC GFFQWVDENT APGTSGAPSW TGDRGRTLES 

       970        980        990       1000 
EARSKRPRAS SSDMGSTAKK PRKCSLCHQP GHTRPFCPQN R 

« Hide

Isoform Short [UniParc].

Checksum: 4AB9262B5DE7D05B
Show »

FASTA976109,341
Isoform 3 [UniParc].

Checksum: 60F389C5FF1A92F9
Show »

FASTA906101,208

References

« Hide 'large scale' references
[1]"Human TOP3: a single-copy gene encoding DNA topoisomerase III."
Hanai R., Caron P.R., Wang J.C.
Proc. Natl. Acad. Sci. U.S.A. 93:3653-3657(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), FUNCTION, CATALYTIC ACTIVITY.
[2]"Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing."
Wang W., Shen P., Thiyagarajan S., Lin S., Palm C., Horvath R., Klopstock T., Cutler D., Pique L., Schrijver I., Davis R.W., Mindrinos M., Speed T.P., Scharfe C.
Nucleic Acids Res. 39:44-58(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[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 LONG AND 3).
Tissue: Thalamus and Trachea.
[4]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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 LONG).
Tissue: Testis.
[7]"BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity."
Yin J., Sobeck A., Xu C., Meetei A.R., Hoatlin M., Li L., Wang W.
EMBO J. 24:1465-1476(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN COMPLEX WITH BLM AND RMI1.
[8]"RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability."
Xu D., Guo R., Sobeck A., Bachrati C.Z., Yang J., Enomoto T., Brown G.W., Hoatlin M.E., Hickson I.D., Wang W.
Genes Dev. 22:2843-2855(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE RMI COMPLEX.
[9]"BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome."
Singh T.R., Ali A.M., Busygina V., Raynard S., Fan Q., Du C.-H., Andreassen P.R., Sung P., Meetei A.R.
Genes Dev. 22:2856-2868(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE RMI COMPLEX.
[10]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Human topoisomerase IIIalpha is a single-stranded DNA decatenase that is stimulated by BLM and RMI1."
Yang J., Bachrati C.Z., Ou J., Hickson I.D., Brown G.W.
J. Biol. Chem. 285:21426-21436(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBUNIT, COFACTOR, INTERACTION WITH RMI1.
[12]"Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair."
Wan L., Han J., Liu T., Dong S., Xie F., Chen H., Huang J.
Proc. Natl. Acad. Sci. U.S.A. 110:10646-10651(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH BLM.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U43431 mRNA. Translation: AAB03694.1.
U43431 mRNA. Translation: AAB03695.1.
HQ205026 Genomic DNA. Translation: ADP90454.1.
HQ205027 Genomic DNA. Translation: ADP90455.1.
HQ205028 Genomic DNA. Translation: ADP90456.1.
HQ205029 Genomic DNA. Translation: ADP90457.1.
HQ205030 Genomic DNA. Translation: ADP90458.1.
HQ205031 Genomic DNA. Translation: ADP90459.1.
HQ205032 Genomic DNA. Translation: ADP90460.1.
HQ205033 Genomic DNA. Translation: ADP90461.1.
HQ205034 Genomic DNA. Translation: ADP90462.1.
HQ205035 Genomic DNA. Translation: ADP90463.1.
HQ205036 Genomic DNA. Translation: ADP90464.1.
HQ205037 Genomic DNA. Translation: ADP90465.1.
HQ205038 Genomic DNA. Translation: ADP90466.1.
HQ205039 Genomic DNA. Translation: ADP90467.1.
HQ205040 Genomic DNA. Translation: ADP90468.1.
HQ205041 Genomic DNA. Translation: ADP90469.1.
HQ205042 Genomic DNA. Translation: ADP90470.1.
HQ205043 Genomic DNA. Translation: ADP90471.1.
HQ205044 Genomic DNA. Translation: ADP90472.1.
HQ205045 Genomic DNA. Translation: ADP90473.1.
HQ205046 Genomic DNA. Translation: ADP90474.1.
HQ205047 Genomic DNA. Translation: ADP90475.1.
HQ205048 Genomic DNA. Translation: ADP90476.1.
HQ205049 Genomic DNA. Translation: ADP90477.1.
HQ205050 Genomic DNA. Translation: ADP90478.1.
HQ205051 Genomic DNA. Translation: ADP90479.1.
HQ205052 Genomic DNA. Translation: ADP90480.1.
HQ205053 Genomic DNA. Translation: ADP90481.1.
HQ205054 Genomic DNA. Translation: ADP90482.1.
HQ205055 Genomic DNA. Translation: ADP90483.1.
HQ205056 Genomic DNA. Translation: ADP90484.1.
HQ205057 Genomic DNA. Translation: ADP90485.1.
HQ205058 Genomic DNA. Translation: ADP90486.1.
HQ205059 Genomic DNA. Translation: ADP90487.1.
HQ205060 Genomic DNA. Translation: ADP90488.1.
HQ205061 Genomic DNA. Translation: ADP90489.1.
HQ205062 Genomic DNA. Translation: ADP90490.1.
HQ205063 Genomic DNA. Translation: ADP90491.1.
HQ205064 Genomic DNA. Translation: ADP90492.1.
HQ205065 Genomic DNA. Translation: ADP90493.1.
AK292926 mRNA. Translation: BAF85615.1.
AK296437 mRNA. Translation: BAG59092.1.
AC127537 Genomic DNA. No translation available.
CH471196 Genomic DNA. Translation: EAW55646.1.
CH471196 Genomic DNA. Translation: EAW55648.1.
CH471196 Genomic DNA. Translation: EAW55649.1.
BC051748 mRNA. Translation: AAH51748.1.
RefSeqNP_004609.1. NM_004618.3.
UniGeneHs.592115.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4CGYX-ray2.85A2-753[»]
4CHTX-ray3.25A2-753[»]
ProteinModelPortalQ13472.
SMRQ13472. Positions 37-694.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113009. 16 interactions.
DIPDIP-33323N.
IntActQ13472. 10 interactions.
MINTMINT-6610291.
STRING9606.ENSP00000321636.

PTM databases

PhosphoSiteQ13472.

Polymorphism databases

DMDM2501242.

Proteomic databases

PaxDbQ13472.
PRIDEQ13472.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000321105; ENSP00000321636; ENSG00000177302. [Q13472-1]
ENST00000542570; ENSP00000442336; ENSG00000177302.
ENST00000580095; ENSP00000462790; ENSG00000177302. [Q13472-2]
GeneID7156.
KEGGhsa:7156.
UCSCuc002gsx.1. human. [Q13472-1]

Organism-specific databases

CTD7156.
GeneCardsGC17M018175.
HGNCHGNC:11992. TOP3A.
HPACAB002449.
HPA042910.
MIM601243. gene.
neXtProtNX_Q13472.
PharmGKBPA36673.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0550.
HOGENOMHOG000184377.
HOVERGENHBG056668.
InParanoidQ13472.
KOK03165.
OMALYQICME.
OrthoDBEOG74R1Q0.
PhylomeDBQ13472.
TreeFamTF105287.

Enzyme and pathway databases

ReactomeREACT_111183. Meiosis.

Gene expression databases

ArrayExpressQ13472.
BgeeQ13472.
CleanExHS_TOP3A.
GenevestigatorQ13472.

Family and domain databases

Gene3D1.10.460.10. 2 hits.
2.70.20.10. 3 hits.
3.40.50.140. 1 hit.
InterProIPR000380. Topo_IA.
IPR003601. Topo_IA_2.
IPR023406. Topo_IA_AS.
IPR013497. Topo_IA_cen.
IPR013824. Topo_IA_cen_sub1.
IPR013825. Topo_IA_cen_sub2.
IPR023405. Topo_IA_core_domain.
IPR003602. Topo_IA_DNA-bd.
IPR013498. Topo_IA_Znf.
IPR006171. Toprim_domain.
IPR001878. Znf_CCHC.
IPR010666. Znf_GRF.
[Graphical view]
PANTHERPTHR11390. PTHR11390. 1 hit.
PfamPF01131. Topoisom_bac. 1 hit.
PF01751. Toprim. 1 hit.
PF01396. zf-C4_Topoisom. 1 hit.
PF06839. zf-GRF. 2 hits.
[Graphical view]
PRINTSPR00417. PRTPISMRASEI.
SMARTSM00437. TOP1Ac. 1 hit.
SM00436. TOP1Bc. 1 hit.
SM00493. TOPRIM. 1 hit.
SM00343. ZnF_C2HC. 1 hit.
[Graphical view]
SUPFAMSSF56712. SSF56712. 1 hit.
PROSITEPS00396. TOPOISOMERASE_I_PROK. 1 hit.
PS50880. TOPRIM. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTOP3A.
GenomeRNAi7156.
NextBio28002.
PROQ13472.
SOURCESearch...

Entry information

Entry nameTOP3A_HUMAN
AccessionPrimary (citable) accession number: Q13472
Secondary accession number(s): A8KA61 expand/collapse secondary AC list , B4DK80, D3DXC7, Q13473
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: April 16, 2014
This is version 129 of the entry and version 1 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 17

Human chromosome 17: entries, gene names and cross-references to MIM