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UniProtKB - Q5TCY1 (TTBK1_HUMAN)
Protein
Tau-tubulin kinase 1
Gene
TTBK1
Organism
Homo sapiens (Human)
Status
Functioni
Serine/threonine kinase which is able to phosphorylate TAU on serine, threonine and tyrosine residues. Induces aggregation of TAU.
1 PublicationCaution
It is uncertain whether Met-1 or Met-14 is the initiator.Curated
Catalytic activityi
Cofactori
Mg2+1 Publication, Mn2+1 PublicationNote: Divalent metal cations. Mg2+ or, to a lesser extent, Mn2+, but not Ca2+ or Zn2+.1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 63 | ATPPROSITE-ProRule annotation | 1 | |
Active sitei | 154 | Proton acceptorPROSITE-ProRule annotation | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 40 – 48 | ATPPROSITE-ProRule annotation | 9 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- protein serine/threonine/tyrosine kinase activity Source: RHEA
- protein serine/threonine kinase activity Source: ARUK-UCL
- protein serine kinase activity Source: ARUK-UCL
- protein tyrosine kinase activity Source: ARUK-UCL
- tau protein binding Source: ARUK-UCL
- tau-protein kinase activity Source: ARUK-UCL
GO - Biological processi
- learning or memory Source: ARUK-UCL
- negative regulation of gene expression Source: ARUK-UCL
- negative regulation of protein binding Source: ARUK-UCL
- peptidyl-serine phosphorylation Source: ARUK-UCL
- peptidyl-threonine phosphorylation Source: ARUK-UCL
- peptidyl-tyrosine phosphorylation Source: ARUK-UCL
- positive regulation of astrocyte activation Source: ARUK-UCL
- positive regulation of cyclin-dependent protein kinase activity Source: ARUK-UCL
- positive regulation of cysteine-type endopeptidase activity Source: ARUK-UCL
- positive regulation of gene expression Source: ARUK-UCL
- positive regulation of microglial cell activation Source: ARUK-UCL
- positive regulation of protein polymerization Source: ARUK-UCL
- protein phosphorylation Source: ARUK-UCL
- signal transduction Source: GO_Central
- substantia nigra development Source: UniProtKB
Keywordsi
Molecular function | Kinase, Serine/threonine-protein kinase, Transferase |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 2.7.11.26, 2681 |
PathwayCommonsi | Q5TCY1 |
SignaLinki | Q5TCY1 |
SIGNORi | Q5TCY1 |
Names & Taxonomyi
Protein namesi | Recommended name: Tau-tubulin kinase 1 (EC:2.7.11.11 Publication)Alternative name(s): Brain-derived tau kinase |
Gene namesi | Name:TTBK1 Synonyms:BDTK, KIAA1855 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19140, TTBK1 |
MIMi | 619415, gene |
neXtProti | NX_Q5TCY1 |
VEuPathDBi | HostDB:ENSG00000146216 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Cytoskeleton
- microtubule associated complex Source: ARUK-UCL
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Other locations
- cytoplasm Source: GO_Central
- neuronal cell body Source: ARUK-UCL
- perinuclear region of cytoplasm Source: ARUK-UCL
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 84630 |
OpenTargetsi | ENSG00000146216 |
PharmGKBi | PA134866142 |
Miscellaneous databases
Pharosi | Q5TCY1, Tbio |
Chemistry databases
ChEMBLi | CHEMBL1926492 |
Genetic variation databases
BioMutai | TTBK1 |
DMDMi | 97203020 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000234341 | 1 – 1321 | Tau-tubulin kinase 1Add BLAST | 1321 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 441 | PhosphoserineBy similarity | 1 | |
Modified residuei | 540 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | Q5TCY1 |
MassIVEi | Q5TCY1 |
PaxDbi | Q5TCY1 |
PeptideAtlasi | Q5TCY1 |
PRIDEi | Q5TCY1 |
ProteomicsDBi | 64995 [Q5TCY1-1] 64996 [Q5TCY1-2] |
PTM databases
iPTMneti | Q5TCY1 |
PhosphoSitePlusi | Q5TCY1 |
Expressioni
Tissue specificityi
Expressed in the brain, particularly in cortical and hippocampal neurons. Weakly expressed in spinal cord and testis. No expression in adipose tissue, bladder, cervix, colon, esophagus, heart, kidney, liver, lung, ovary, placenta, prostate, skeletal muscle, small intestine, spleen, testis, thymus, thyroid or trachea.1 Publication
Gene expression databases
Bgeei | ENSG00000146216, Expressed in cerebellum and 130 other tissues |
ExpressionAtlasi | Q5TCY1, baseline and differential |
Genevisiblei | Q5TCY1, HS |
Organism-specific databases
HPAi | ENSG00000146216, Group enriched (brain, pituitary gland) |
Interactioni
GO - Molecular functioni
- tau protein binding Source: ARUK-UCL
Protein-protein interaction databases
BioGRIDi | 124159, 26 interactors |
IntActi | Q5TCY1, 5 interactors |
STRINGi | 9606.ENSP00000259750 |
Chemistry databases
BindingDBi | Q5TCY1 |
Miscellaneous databases
RNActi | Q5TCY1, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
AlphaFoldDBi | Q5TCY1 |
SMRi | Q5TCY1 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 34 – 297 | Protein kinasePROSITE-ProRule annotationAdd BLAST | 264 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 363 – 397 | DisorderedSequence analysisAdd BLAST | 35 | |
Regioni | 416 – 677 | DisorderedSequence analysisAdd BLAST | 262 | |
Regioni | 714 – 908 | DisorderedSequence analysisAdd BLAST | 195 | |
Regioni | 997 – 1092 | DisorderedSequence analysisAdd BLAST | 96 | |
Regioni | 1104 – 1321 | DisorderedSequence analysisAdd BLAST | 218 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 685 – 781 | Sequence analysisAdd BLAST | 97 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 453 – 480 | Basic and acidic residuesSequence analysisAdd BLAST | 28 | |
Compositional biasi | 483 – 498 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 532 – 555 | Basic and acidic residuesSequence analysisAdd BLAST | 24 | |
Compositional biasi | 568 – 592 | Basic and acidic residuesSequence analysisAdd BLAST | 25 | |
Compositional biasi | 620 – 634 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 732 – 774 | Acidic residuesSequence analysisAdd BLAST | 43 | |
Compositional biasi | 786 – 807 | Polar residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 812 – 831 | Basic and acidic residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 868 – 889 | Polar residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 1075 – 1092 | Basic and acidic residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 1105 – 1132 | Polar residuesSequence analysisAdd BLAST | 28 | |
Compositional biasi | 1237 – 1262 | Polar residuesSequence analysisAdd BLAST | 26 | |
Compositional biasi | 1265 – 1284 | Pro residuesSequence analysisAdd BLAST | 20 |
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG1164, Eukaryota |
GeneTreei | ENSGT00940000160981 |
HOGENOMi | CLU_003410_0_0_1 |
InParanoidi | Q5TCY1 |
OMAi | RRHAMPG |
OrthoDBi | 75271at2759 |
PhylomeDBi | Q5TCY1 |
TreeFami | TF351646 |
Family and domain databases
CDDi | cd14130, STKc_TTBK1, 1 hit |
InterProi | View protein in InterPro IPR011009, Kinase-like_dom_sf IPR000719, Prot_kinase_dom IPR017441, Protein_kinase_ATP_BS IPR042714, TTBK1_STKc |
Pfami | View protein in Pfam PF00069, Pkinase, 1 hit |
SMARTi | View protein in SMART SM00220, S_TKc, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS00107, PROTEIN_KINASE_ATP, 1 hit PS50011, PROTEIN_KINASE_DOM, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q5TCY1-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MQCLAAALKD ETNMSGGGEQ ADILPANYVV KDRWKVLKKI GGGGFGEIYE
60 70 80 90 100
AMDLLTRENV ALKVESAQQP KQVLKMEVAV LKKLQGKDHV CRFIGCGRNE
110 120 130 140 150
KFNYVVMQLQ GRNLADLRRS QPRGTFTLST TLRLGKQILE SIEAIHSVGF
160 170 180 190 200
LHRDIKPSNF AMGRLPSTYR KCYMLDFGLA RQYTNTTGDV RPPRNVAGFR
210 220 230 240 250
GTVRYASVNA HKNREMGRHD DLWSLFYMLV EFAVGQLPWR KIKDKEQVGM
260 270 280 290 300
IKEKYEHRML LKHMPSEFHL FLDHIASLDY FTKPDYQLIM SVFENSMKER
310 320 330 340 350
GIAENEAFDW EKAGTDALLS TSTSTPPQQN TRQTAAMFGV VNVTPVPGDL
360 370 380 390 400
LRENTEDVLQ GEHLSDQENA PPILPGRPSE GLGPSPHLVP HPGGPEAEVW
410 420 430 440 450
EETDVNRNKL RINIGKSPCV EEEQSRGMGV PSSPVRAPPD SPTTPVRSLR
460 470 480 490 500
YRRVNSPESE RLSTADGRVE LPERRSRMDL PGSPSRQACS SQPAQMLSVD
510 520 530 540 550
TGHADRQASG RMDVSASVEQ EALSNAFRSV PLAEEEDFDS KEWVIIDKET
560 570 580 590 600
ELKDFPPGAE PSTSGTTDEE PEELRPLPEE GEERRRLGAE PTVRPRGRSM
610 620 630 640 650
QALAEEDLQH LPPQPLPPQL SQGDGRSETS QPPTPGSPSH SPLHSGPRPR
660 670 680 690 700
RRESDPTGPQ RQVFSVAPPF EVNGLPRAVP LSLPYQDFKR DLSDYRERAR
710 720 730 740 750
LLNRVRRVGF SHMLLTTPQV PLAPVQPQAN GKEEEEEEEE DEEEEEEDEE
760 770 780 790 800
EEEEEEEEEE EEEEEEEEEE EAAAAVALGE VLGPRSGSSS EGSERSTDRS
810 820 830 840 850
QEGAPSTLLA DDQKESRGRA SMADGDLEPE EGSKTLVLVS PGDMKKSPVT
860 870 880 890 900
AELAPDPDLG TLAALTPQHE RPQPTGSQLD VSEPGTLSSV LKSEPKPPGP
910 920 930 940 950
GAGLGAGTVT TGVGGVAVTS SPFTKVERTF VHIAEKTHLN VMSSGGQALR
960 970 980 990 1000
SEEFSAGGEL GLELASDGGA VEEGARAPLE NGLALSGLNG AEIEGSALSG
1010 1020 1030 1040 1050
APRETPSEMA TNSLPNGPAL ADGPAPVSPL EPSPEKVATI SPRRHAMPGS
1060 1070 1080 1090 1100
RPRSRIPVLL SEEDTGSEPS GSLSAKERWS KRARPQQDLA RLVMEKRQGR
1110 1120 1130 1140 1150
LLLRLASGAS SSSSEEQRRA SETLSGTGSE EDTPASEPAA ALPRKSGRAA
1160 1170 1180 1190 1200
ATRSRIPRPI GLRMPMPVAA QQPASRSHGA APALDTAITS RLQLQTPPGS
1210 1220 1230 1240 1250
ATAADLRPKQ PPGRGLGPGR AQAGARPPAP RSPRLPASTS AARNASASPR
1260 1270 1280 1290 1300
SQSLSRRESP SPSHQARPGV PPPRGVPPAR AQPDGTPSPG GSKKGPRGKL
1310 1320
QAQRATTKGR AGGAEGRAGA R
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketX6R456 | X6R456_HUMAN | Tau-tubulin kinase 1 | TTBK1 | 713 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 37 | L → V in BAE78660 (PubMed:16923168).Curated | 1 | |
Sequence conflicti | 402 | E → G in BAD18405 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1190 | S → SS in AAH36764 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_041252 | 613 | P → L1 PublicationCorresponds to variant dbSNP:rs34993661EnsemblClinVar. | 1 | |
Natural variantiVAR_041253 | 623 | G → A1 PublicationCorresponds to variant dbSNP:rs3800294Ensembl. | 1 | |
Natural variantiVAR_041254 | 649 | P → R1 PublicationCorresponds to variant dbSNP:rs35175743Ensembl. | 1 | |
Natural variantiVAR_041255 | 741 | D → E1 PublicationCorresponds to variant dbSNP:rs56377340Ensembl. | 1 | |
Natural variantiVAR_041256 | 744 | E → D1 PublicationCorresponds to variant dbSNP:rs3800295Ensembl. | 1 | |
Natural variantiVAR_041257 | 806 | S → F in a lung large cell carcinoma sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_041258 | 855 | P → S in a metastatic melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs267601046Ensembl. | 1 | |
Natural variantiVAR_041259 | 1145 | K → R1 PublicationCorresponds to variant dbSNP:rs3800297Ensembl. | 1 | |
Natural variantiVAR_041260 | 1184 | L → S1 PublicationCorresponds to variant dbSNP:rs3800298Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_026497 | 1 – 51 | Missing in isoform 2. 1 PublicationAdd BLAST | 51 | |
Alternative sequenceiVSP_026498 | 592 – 672 | TVRPR…PPFEV → FPLTPALGTPPSTERVGPHR PTETVGGGQTLGALPPAVQP PATTGVLRVLLLHAGDGALP SPRRRRLLGLLRFPHSAQPL G in isoform 2. 1 PublicationAdd BLAST | 81 | |
Alternative sequenceiVSP_026499 | 673 – 1321 | Missing in isoform 2. 1 PublicationAdd BLAST | 649 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB218664 mRNA Translation: BAE78660.1 AK131217 mRNA Translation: BAD18405.1 AL133375 Genomic DNA No translation available. AB058758 mRNA Translation: BAB47484.1 BC036764 mRNA Translation: AAH36764.1 |
CCDSi | CCDS34455.1 [Q5TCY1-1] |
RefSeqi | NP_115927.1, NM_032538.2 [Q5TCY1-1] |
Genome annotation databases
Ensembli | ENST00000259750.9; ENSP00000259750.4; ENSG00000146216.13 |
GeneIDi | 84630 |
KEGGi | hsa:84630 |
MANE-Selecti | ENST00000259750.9; ENSP00000259750.4; NM_032538.3; NP_115927.1 |
UCSCi | uc003ouq.2, human [Q5TCY1-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB218664 mRNA Translation: BAE78660.1 AK131217 mRNA Translation: BAD18405.1 AL133375 Genomic DNA No translation available. AB058758 mRNA Translation: BAB47484.1 BC036764 mRNA Translation: AAH36764.1 |
CCDSi | CCDS34455.1 [Q5TCY1-1] |
RefSeqi | NP_115927.1, NM_032538.2 [Q5TCY1-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4BTJ | X-ray | 2.16 | A/B | 1-313 | [»] | |
4BTK | X-ray | 2.00 | A | 1-313 | [»] | |
4BTM | X-ray | 2.54 | A/B | 1-313 | [»] | |
4NFM | X-ray | 2.12 | A | 14-343 | [»] | |
4NFN | X-ray | 1.42 | A | 14-320 | [»] | |
7JXX | X-ray | 1.56 | A | 15-343 | [»] | |
7JXY | X-ray | 2.15 | A/B | 15-343 | [»] | |
AlphaFoldDBi | Q5TCY1 | |||||
SMRi | Q5TCY1 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 124159, 26 interactors |
IntActi | Q5TCY1, 5 interactors |
STRINGi | 9606.ENSP00000259750 |
Chemistry databases
BindingDBi | Q5TCY1 |
ChEMBLi | CHEMBL1926492 |
PTM databases
iPTMneti | Q5TCY1 |
PhosphoSitePlusi | Q5TCY1 |
Genetic variation databases
BioMutai | TTBK1 |
DMDMi | 97203020 |
Proteomic databases
jPOSTi | Q5TCY1 |
MassIVEi | Q5TCY1 |
PaxDbi | Q5TCY1 |
PeptideAtlasi | Q5TCY1 |
PRIDEi | Q5TCY1 |
ProteomicsDBi | 64995 [Q5TCY1-1] 64996 [Q5TCY1-2] |
Protocols and materials databases
Antibodypediai | 30359, 194 antibodies from 29 providers |
DNASUi | 84630 |
Genome annotation databases
Ensembli | ENST00000259750.9; ENSP00000259750.4; ENSG00000146216.13 |
GeneIDi | 84630 |
KEGGi | hsa:84630 |
MANE-Selecti | ENST00000259750.9; ENSP00000259750.4; NM_032538.3; NP_115927.1 |
UCSCi | uc003ouq.2, human [Q5TCY1-1] |
Organism-specific databases
CTDi | 84630 |
DisGeNETi | 84630 |
GeneCardsi | TTBK1 |
HGNCi | HGNC:19140, TTBK1 |
HPAi | ENSG00000146216, Group enriched (brain, pituitary gland) |
MIMi | 619415, gene |
neXtProti | NX_Q5TCY1 |
OpenTargetsi | ENSG00000146216 |
PharmGKBi | PA134866142 |
VEuPathDBi | HostDB:ENSG00000146216 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1164, Eukaryota |
GeneTreei | ENSGT00940000160981 |
HOGENOMi | CLU_003410_0_0_1 |
InParanoidi | Q5TCY1 |
OMAi | RRHAMPG |
OrthoDBi | 75271at2759 |
PhylomeDBi | Q5TCY1 |
TreeFami | TF351646 |
Enzyme and pathway databases
BRENDAi | 2.7.11.26, 2681 |
PathwayCommonsi | Q5TCY1 |
SignaLinki | Q5TCY1 |
SIGNORi | Q5TCY1 |
Miscellaneous databases
BioGRID-ORCSi | 84630, 13 hits in 1103 CRISPR screens |
ChiTaRSi | TTBK1, human |
GenomeRNAii | 84630 |
Pharosi | Q5TCY1, Tbio |
PROi | PR:Q5TCY1 |
RNActi | Q5TCY1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000146216, Expressed in cerebellum and 130 other tissues |
ExpressionAtlasi | Q5TCY1, baseline and differential |
Genevisiblei | Q5TCY1, HS |
Family and domain databases
CDDi | cd14130, STKc_TTBK1, 1 hit |
InterProi | View protein in InterPro IPR011009, Kinase-like_dom_sf IPR000719, Prot_kinase_dom IPR017441, Protein_kinase_ATP_BS IPR042714, TTBK1_STKc |
Pfami | View protein in Pfam PF00069, Pkinase, 1 hit |
SMARTi | View protein in SMART SM00220, S_TKc, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS00107, PROTEIN_KINASE_ATP, 1 hit PS50011, PROTEIN_KINASE_DOM, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TTBK1_HUMAN | |
Accessioni | Q5TCY1Primary (citable) accession number: Q5TCY1 Secondary accession number(s): A2A2U5 Q96JH2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 16, 2006 |
Last sequence update: | May 16, 2006 | |
Last modified: | May 25, 2022 | |
This is version 148 of the entry and version 2 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, Reference proteomeDocuments
- Human and mouse protein kinases
Human and mouse protein kinases: classification and index - Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - 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 - SIMILARITY comments
Index of protein domains and families