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Protein

DNA repair protein RAD51 homolog 1

Gene

RAD51

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

Functioni

Plays an important role in homologous strand exchange, a key step in DNA repair through homologous recombination (HR) (PubMed:28575658). Binds to single and double-stranded DNA and exhibits DNA-dependent ATPase activity. Catalyzes the recognition of homology and strand exchange between homologous DNA partners to form a joint molecule between a processed DNA break and the repair template. Binds to single-stranded DNA in an ATP-dependent manner to form nucleoprotein filaments which are essential for the homology search and strand exchange (PubMed:26681308). Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51C and XRCC3. Also involved in interstrand cross-link repair (PubMed:26253028).11 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi127 – 134ATPBy similarity8

GO - Molecular functioni

  • ATP binding Source: MGI
  • DNA polymerase binding Source: UniProtKB
  • double-stranded DNA binding Source: UniProtKB
  • four-way junction DNA binding Source: GO_Central
  • identical protein binding Source: IntAct
  • protein C-terminus binding Source: UniProtKB
  • recombinase activity Source: GO_Central
  • single-stranded DNA binding Source: UniProtKB
  • single-stranded DNA-dependent ATPase activity Source: UniProtKB

GO - Biological processi

  • cellular response to camptothecin Source: UniProtKB
  • cellular response to DNA damage stimulus Source: UniProtKB
  • cellular response to ionizing radiation Source: UniProtKB
  • chromosome organization involved in meiotic cell cycle Source: GO_Central
  • DNA recombinase assembly Source: UniProtKB
  • DNA recombination Source: UniProtKB
  • DNA repair Source: ProtInc
  • DNA unwinding involved in DNA replication Source: UniProtKB
  • double-strand break repair via homologous recombination Source: MGI
  • interstrand cross-link repair Source: UniProtKB
  • meiotic cell cycle Source: UniProtKB
  • mitotic recombination Source: ProtInc
  • mitotic recombination-dependent replication fork processing Source: InterPro
  • negative regulation of G0 to G1 transition Source: Reactome
  • positive regulation of DNA ligation Source: UniProtKB
  • protein homooligomerization Source: UniProtKB
  • reciprocal meiotic recombination Source: ProtInc
  • regulation of double-strand break repair via homologous recombination Source: UniProtKB
  • replication fork processing Source: UniProtKB
  • strand invasion Source: GO_Central
  • telomere maintenance via recombination Source: BHF-UCL
  • telomere maintenance via telomere lengthening Source: BHF-UCL

Keywordsi

Molecular functionDNA-binding
Biological processDNA damage, DNA recombination, DNA repair
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-5685938 HDR through Single Strand Annealing (SSA)
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-8953750 Transcriptional Regulation by E2F6
R-HSA-912446 Meiotic recombination
SignaLinkiQ06609
SIGNORiQ06609

Names & Taxonomyi

Protein namesi
Recommended name:
DNA repair protein RAD51 homolog 1
Short name:
HsRAD51
Short name:
hRAD51
Alternative name(s):
RAD51 homolog A
Gene namesi
Name:RAD51
Synonyms:RAD51A, RECA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000051180.16
HGNCiHGNC:9817 RAD51
MIMi179617 gene
neXtProtiNX_Q06609

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Breast cancer (BC)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
See also OMIM:114480
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010899150R → Q in BC; decreased ATPase activity in the presence of stoichiometric ss-DNA concentrations with respect to RAD51; 3 to 4-fold decrease of affinity for ATP. 2 PublicationsCorresponds to variant dbSNP:rs121917739EnsemblClinVar.1
Mirror movements 2 (MRMV2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities.
See also OMIM:614508
Fanconi anemia, complementation group R (FANCR)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
See also OMIM:617244
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076870131T → P in FANCR; causes dominant negative loss of function in interstrand cross-link repair; shows high basal DNA-independent ATPase activity; results in decreased DNA binding. 1 Publication1
Natural variantiVAR_076593293A → T in FANCR; dominant negative; impaired function in DNA repair via homologous recombination; impaired DNA-binding and formation of nucleoprotein filaments; impaired DNA-dependent ATPase activity; no effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs1057519413Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi58K → R: Impaired ubiquitination; when associated with R-64. 1 Publication1
Mutagenesisi64K → R: Impaired ubiquitination; when associated with R-58. 1 Publication1
Mutagenesisi86F → A: Loss of homooligomerization. 1 Publication1
Mutagenesisi89A → E: Loss of homooligomerization. 1 Publication1
Mutagenesisi208 – 209SA → LE: Disrupts interaction with BRCA2, no effect on homooligomerization, promotes interaction with XPO1 and cytoplasmic localization. 2 Publications2
Mutagenesisi309T → A: Confers hypersensitivity to hydroxyurea. 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNETi5888
MalaCardsiRAD51
MIMi114480 phenotype
614508 phenotype
617244 phenotype
OpenTargetsiENSG00000051180
Orphaneti238722 Familial congenital mirror movements
145 Hereditary breast and ovarian cancer syndrome
PharmGKBiPA34176

Chemistry databases

ChEMBLiCHEMBL2034807
DrugBankiDB05216 MP470
DB04395 Phosphoaminophosphonic Acid-Adenylate Ester

Polymorphism and mutation databases

BioMutaiRAD51
DMDMi548663

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001229322 – 339DNA repair protein RAD51 homolog 1Add BLAST338

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei54Phosphotyrosine; by ABL11 Publication1
Cross-linki58Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki64Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei309Phosphothreonine; by CHEK11 Publication1

Post-translational modificationi

Ubiquitinated by the SCF(FBH1) E3 ubiquitin ligase complex, regulating RAD51 subcellular location and preventing its association with DNA. Ubiquitinated by RFWD3 in response to DNA damage: ubiquitination leads to degradation by the proteasome, promoting homologous recombination (PubMed:28575658).2 Publications
Phosphorylated. Phosphorylation of Thr-309 by CHEK1 may enhance association with chromatin at sites of DNA damage and promote DNA repair by homologous recombination. Phosphorylation by ABL1 inhibits function.2 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ06609
MaxQBiQ06609
PeptideAtlasiQ06609
PRIDEiQ06609
ProteomicsDBi58464
58465 [Q06609-2]
58466 [Q06609-3]
58467 [Q06609-4]

PTM databases

iPTMnetiQ06609
PhosphoSitePlusiQ06609

Miscellaneous databases

PMAP-CutDBiQ06609

Expressioni

Tissue specificityi

Highly expressed in testis and thymus, followed by small intestine, placenta, colon, pancreas and ovary. Weakly expressed in breast.

Inductioni

Stress-induced increase in the mitochondrial levels is seen.1 Publication

Gene expression databases

BgeeiENSG00000051180
CleanExiHS_RAD51
ExpressionAtlasiQ06609 baseline and differential
GenevisibleiQ06609 HS

Organism-specific databases

HPAiCAB010381
HPA039310

Interactioni

Subunit structurei

Forms linear homooligomers, giving rise to a RAD51 nucleoprotein filament, which is essential for strand-pairing reactions during DNA recombination. Interacts with BRCA1 and either directly or indirectly with p53. Interacts with XRCC3, RAD54L and RAD54B. Interacts with the BCDX2 subcomplex RAD51C:RAD51B. Interacts directly with PALB2 which may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3. Interacts with RAD51AP1 and RAD51AP2. Interacts with CHEK1, and this may require prior phosphorylation of CHEK1. Interacts with the MND1-PSMC3IP heterodimer. Found in a complex, at least composed of BLM, RAD51 and SPIDR; the complex formation is mediated by SPIDR. Interacts with SPIDR; the interaction is direct and recruits RAD51 to DNA damage sites. Interacts with FIGNL1 (via N-terminal one-half region); the interaction is direct. Interacts with RAD51AP1 (via C-terminal region); the interaction is direct. Interacts with NABP2, RPA1, PALB2 and RAD51. Interacts with SWI5/C9orf119, and at lower level with SFR1/MEIR5. Interacts with hyperphosphorylated RPA2; this interaction is necessary for efficient recruitment to chromatin in response to DNA damage. Interacts with SWSAP1; involved in homologous recombination repair. Interacts with PARPBP, BRCA2 and RECQL5; these interactions interfere with the formation of the RAD51-DNA homologous recombination structure. Interacts with POLQ; POLQ acts as an inhibitor of homology-recombination repair (HR) pathway by limiting RAD51 accumulation at resected ends (PubMed:25642963). Interacts with FBH1 (PubMed:23393192). Interacts with POLN (PubMed:19995904). Interacts with RFWD3 (PubMed:28575658).27 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • DNA polymerase binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • protein C-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111825, 157 interactors
ComplexPortaliCPX-955 BRCC ubiquitin ligase complex
CORUMiQ06609
DIPiDIP-462N
ELMiQ06609
IntActiQ06609, 108 interactors
MINTiQ06609

Chemistry databases

BindingDBiQ06609

Structurei

Secondary structure

1339
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi25 – 30Combined sources6
Helixi35 – 42Combined sources8
Helixi49 – 51Combined sources3
Beta strandi54 – 56Combined sources3
Helixi57 – 61Combined sources5
Turni62 – 65Combined sources4
Helixi70 – 81Combined sources12
Helixi107 – 112Combined sources6
Turni113 – 115Combined sources3
Beta strandi116 – 118Combined sources3
Beta strandi121 – 126Combined sources6
Helixi133 – 143Combined sources11
Helixi148 – 150Combined sources3
Beta strandi154 – 164Combined sources11
Helixi168 – 177Combined sources10
Helixi182 – 187Combined sources6
Beta strandi189 – 193Combined sources5
Helixi197 – 213Combined sources17
Beta strandi216 – 222Combined sources7
Helixi226 – 228Combined sources3
Helixi238 – 259Combined sources22
Beta strandi262 – 267Combined sources6
Beta strandi298 – 304Combined sources7
Beta strandi309 – 314Combined sources6
Beta strandi323 – 330Combined sources8
Beta strandi333 – 335Combined sources3

3D structure databases

ProteinModelPortaliQ06609
SMRiQ06609
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ06609

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini48 – 77HhHAdd BLAST30

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni184 – 257Interaction with PALB2Add BLAST74

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi245 – 260Nuclear export signal; masked by the interaction with BRCA21 PublicationAdd BLAST16

Domaini

The nuclear localization may reside in the C-terminus (between 259 and 339 AA).

Sequence similaritiesi

Belongs to the RecA family. RAD51 subfamily.Curated

Phylogenomic databases

GeneTreeiENSGT00890000139508
HOGENOMiHOG000227426
HOVERGENiHBG001504
InParanoidiQ06609
KOiK04482
OMAiYNTDHQT
OrthoDBiEOG091G09QY
PhylomeDBiQ06609
TreeFamiTF101218

Family and domain databases

CDDicd01123 Rad51_DMC1_radA, 1 hit
InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR011941 DNA_recomb/repair_Rad51
IPR013632 DNA_recomb/repair_Rad51_C
IPR016467 DNA_recomb/repair_RecA-like
IPR010995 DNA_repair_Rad51/TF_NusA_a-hlx
IPR027417 P-loop_NTPase
IPR033925 Rad51_DMC1_RadA
IPR020588 RecA_ATP-bd
IPR020587 RecA_monomer-monomer_interface
PfamiView protein in Pfam
PF08423 Rad51, 1 hit
PIRSFiPIRSF005856 Rad51, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF47794 SSF47794, 1 hit
SSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR02239 recomb_RAD51, 1 hit
PROSITEiView protein in PROSITE
PS50162 RECA_2, 1 hit
PS50163 RECA_3, 1 hit

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q06609-1) [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
MAMQMQLEAN ADTSVEEESF GPQPISRLEQ CGINANDVKK LEEAGFHTVE
60 70 80 90 100
AVAYAPKKEL INIKGISEAK ADKILAEAAK LVPMGFTTAT EFHQRRSEII
110 120 130 140 150
QITTGSKELD KLLQGGIETG SITEMFGEFR TGKTQICHTL AVTCQLPIDR
160 170 180 190 200
GGGEGKAMYI DTEGTFRPER LLAVAERYGL SGSDVLDNVA YARAFNTDHQ
210 220 230 240 250
TQLLYQASAM MVESRYALLI VDSATALYRT DYSGRGELSA RQMHLARFLR
260 270 280 290 300
MLLRLADEFG VAVVITNQVV AQVDGAAMFA ADPKKPIGGN IIAHASTTRL
310 320 330
YLRKGRGETR ICKIYDSPCL PEAEAMFAIN ADGVGDAKD
Length:339
Mass (Da):36,966
Last modified:June 1, 1994 - v1
Checksum:i26578E6206DEDEDA
GO
Isoform 2 (identifier: Q06609-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     77-173: Missing.

Note: No experimental confirmation available.
Show »
Length:242
Mass (Da):26,351
Checksum:iDFA9E12DC8429CA2
GO
Isoform 3 (identifier: Q06609-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     259-284: FGVAVVITNQVVAQVDGAAMFAADPK → IVSEERKRGNQNLQNLRLSLSS
     285-339: Missing.

Note: Mutagenesis of Arg-264 to Ala inhibits nuclear localization. Mutagenesis of Lys-264 to Gln inhibits nuclear localization. Deletion of 254-Arg-Lys-255 inhibits nuclear localization.1 Publication
Show »
Length:280
Mass (Da):31,001
Checksum:i1DFA22F6C0926FC2
GO
Isoform 4 (identifier: Q06609-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     76-114: AEAAKLVPMG...GSKELDKLLQ → TESRSVARLE...ASASRVVGTT

Note: No experimental confirmation available.
Show »
Length:340
Mass (Da):36,780
Checksum:iD8E2AAD35400FB04
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti313K → Q in BAA02962 (PubMed:8358431).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076870131T → P in FANCR; causes dominant negative loss of function in interstrand cross-link repair; shows high basal DNA-independent ATPase activity; results in decreased DNA binding. 1 Publication1
Natural variantiVAR_010899150R → Q in BC; decreased ATPase activity in the presence of stoichiometric ss-DNA concentrations with respect to RAD51; 3 to 4-fold decrease of affinity for ATP. 2 PublicationsCorresponds to variant dbSNP:rs121917739EnsemblClinVar.1
Natural variantiVAR_076593293A → T in FANCR; dominant negative; impaired function in DNA repair via homologous recombination; impaired DNA-binding and formation of nucleoprotein filaments; impaired DNA-dependent ATPase activity; no effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs1057519413Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04365576 – 114AEAAK…DKLLQ → TESRSVARLECNSVILVYCT LRLSGSSDSPASASRVVGTT in isoform 4. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_00555677 – 173Missing in isoform 2. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_041724259 – 284FGVAV…AADPK → IVSEERKRGNQNLQNLRLSL SS in isoform 3. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_041725285 – 339Missing in isoform 3. 1 PublicationAdd BLAST55

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D13804 mRNA Translation: BAA02962.1
D14134 mRNA Translation: BAA03189.1
AF165094
, AF165088, AF165089, AF165090, AF165091, AF165092, AF165093 Genomic DNA Translation: AAD49705.1
AF233744
, AF233740, AF233741, AF233742, AF236021, AF233743 Genomic DNA Translation: AAF69145.1
EU362635 mRNA Translation: ABY59731.1
AY196785 Genomic DNA Translation: AAN87149.1
AK131299 mRNA Translation: BAD18467.1
AK291969 mRNA Translation: BAF84658.1
AK313503 mRNA Translation: BAG36283.1
CR536559 mRNA Translation: CAG38796.1
AC012476 Genomic DNA No translation available.
AC022405 Genomic DNA No translation available.
CH471125 Genomic DNA Translation: EAW92434.1
CH471125 Genomic DNA Translation: EAW92432.1
CH471125 Genomic DNA Translation: EAW92435.1
BC001459 mRNA Translation: AAH01459.1
CCDSiCCDS10062.1 [Q06609-1]
CCDS53931.1 [Q06609-4]
CCDS53932.1 [Q06609-3]
PIRiI58295
RefSeqiNP_001157741.1, NM_001164269.1 [Q06609-4]
NP_001157742.1, NM_001164270.1 [Q06609-3]
NP_002866.2, NM_002875.4 [Q06609-1]
NP_597994.3, NM_133487.3 [Q06609-4]
XP_006720689.1, XM_006720626.3 [Q06609-1]
XP_011520159.1, XM_011521857.2 [Q06609-1]
XP_011520160.1, XM_011521858.2 [Q06609-1]
XP_011520161.1, XM_011521859.2 [Q06609-1]
XP_011520162.1, XM_011521860.2 [Q06609-1]
XP_011520163.1, XM_011521861.2 [Q06609-3]
UniGeneiHs.631709

Genome annotation databases

EnsembliENST00000267868; ENSP00000267868; ENSG00000051180 [Q06609-1]
ENST00000382643; ENSP00000372088; ENSG00000051180 [Q06609-4]
ENST00000423169; ENSP00000406602; ENSG00000051180 [Q06609-3]
ENST00000532743; ENSP00000433924; ENSG00000051180 [Q06609-4]
ENST00000557850; ENSP00000454176; ENSG00000051180 [Q06609-2]
GeneIDi5888
KEGGihsa:5888
UCSCiuc001zmi.5 human [Q06609-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiRAD51_HUMAN
AccessioniPrimary (citable) accession number: Q06609
Secondary accession number(s): B0FXP0
, B2R8T6, Q6FHX9, Q6ZNA8, Q9BV60
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: July 18, 2018
This is version 207 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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