UniProtKB - Q8WWY3 (PRP31_HUMAN)
U4/U6 small nuclear ribonucleoprotein Prp31
PRPF31
Functioni
GO - Molecular functioni
- identical protein binding Source: IntAct
- ribonucleoprotein complex binding Source: MGI
- RNA binding Source: UniProtKB
- snRNP binding Source: BHF-UCL
- U4atac snRNA binding Source: UniProtKB
- U4 snRNA binding Source: GO_Central
GO - Biological processi
- mRNA splicing, via spliceosome Source: UniProtKB
- ribonucleoprotein complex localization Source: UniProtKB
- spliceosomal tri-snRNP complex assembly Source: MGI
Keywordsi
Molecular function | Ribonucleoprotein, RNA-binding |
Biological process | mRNA processing, mRNA splicing |
Enzyme and pathway databases
PathwayCommonsi | Q8WWY3 |
Reactomei | R-HSA-72163, mRNA Splicing - Major Pathway |
Names & Taxonomyi
Protein namesi | Recommended name: U4/U6 small nuclear ribonucleoprotein Prp31Alternative name(s): Pre-mRNA-processing factor 31 Serologically defined breast cancer antigen NY-BR-99 U4/U6 snRNP 61 kDa protein Short name: Protein 61K Short name: hPrp31 |
Gene namesi | Name:PRPF31 Synonyms:PRP31 |
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
EuPathDBi | HostDB:ENSG00000105618.13 |
HGNCi | HGNC:15446, PRPF31 |
MIMi | 606419, gene |
neXtProti | NX_Q8WWY3 |
Subcellular locationi
Nucleus
- Nucleus 3 Publications
- Nucleus speckle 1 Publication
- Cajal body 1 Publication
Note: Predominantly found in speckles and in Cajal bodies.1 Publication
Nucleus
- Cajal body Source: MGI
- MLL1 complex Source: UniProtKB
- nuclear speck Source: MGI
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- precatalytic spliceosome Source: GO_Central
- spliceosomal tri-snRNP complex Source: GO_Central
- U2-type precatalytic spliceosome Source: UniProtKB
- U2-type spliceosomal complex Source: BHF-UCL
- U4 snRNP Source: BHF-UCL
- U4/U6 x U5 tri-snRNP complex Source: UniProtKB
- U4atac snRNP Source: UniProtKB
Keywords - Cellular componenti
Nucleus, SpliceosomePathology & Biotechi
Involvement in diseasei
Retinitis pigmentosa 11 (RP11)5 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025629 | 111 – 114 | Missing in RP11; high penetrance. 1 Publication | 4 | |
Natural variantiVAR_025630 | 194 | A → E in RP11; mislocation of the protein in the cytoplasm and reduced interaction with PRPF6; the result may be a deficiency in splicing function in the retina. 3 PublicationsCorresponds to variant dbSNP:rs119475043EnsemblClinVar. | 1 | |
Natural variantiVAR_025631 | 216 | A → P in RP11; mislocation of the protein in the cytoplasm, but no effect on interaction with PRPF6; the result may be a deficiency in splicing function in the retina. 4 PublicationsCorresponds to variant dbSNP:rs119475042EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 270 | H → A or K: Reduces binding to the complex formed by U4 snRNA and SNU13. 1 Publication | 1 | |
Mutagenesisi | 351 – 364 | Missing : Abolishes nuclear localization. 1 PublicationAdd BLAST | 14 |
Keywords - Diseasei
Disease mutation, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 26121 |
GeneReviewsi | PRPF31 |
MalaCardsi | PRPF31 |
MIMi | 600138, phenotype |
OpenTargetsi | ENSG00000105618 |
Orphaneti | 791, Retinitis pigmentosa |
PharmGKBi | PA33814 |
Miscellaneous databases
Pharosi | Q8WWY3, Tbio |
Polymorphism and mutation databases
BioMutai | PRPF31 |
DMDMi | 90101442 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000227799 | 1 – 499 | U4/U6 small nuclear ribonucleoprotein Prp31Add BLAST | 499 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 379 | PhosphoserineCombined sources | 1 | |
Modified residuei | 395 | PhosphoserineCombined sources | 1 | |
Modified residuei | 432 | PhosphoserineCombined sources | 1 | |
Modified residuei | 438 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 439 | PhosphoserineCombined sources | 1 | |
Modified residuei | 440 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 450 | PhosphoserineCombined sources | 1 | |
Modified residuei | 455 | PhosphothreonineCombined sources | 1 | |
Cross-linki | 471 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 478 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q8WWY3 |
jPOSTi | Q8WWY3 |
MassIVEi | Q8WWY3 |
MaxQBi | Q8WWY3 |
PaxDbi | Q8WWY3 |
PeptideAtlasi | Q8WWY3 |
PRIDEi | Q8WWY3 |
ProteomicsDBi | 17949 74955 [Q8WWY3-1] 74956 [Q8WWY3-2] 74957 [Q8WWY3-3] |
PTM databases
iPTMneti | Q8WWY3 |
MetOSitei | Q8WWY3 |
PhosphoSitePlusi | Q8WWY3 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000105618, Expressed in heart left ventricle and 248 other tissues |
ExpressionAtlasi | Q8WWY3, baseline and differential |
Genevisiblei | Q8WWY3, HS |
Organism-specific databases
HPAi | ENSG00000105618, Low tissue specificity |
Interactioni
Subunit structurei
Identified in the spliceosome B complex (PubMed:28781166).
Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39 (PubMed:11867543, PubMed:16723661, PubMed:26912367).
Interacts with a complex formed by SNU13 and U4 snRNA, but not with SNU13 or U4 snRNA alone (PubMed:17412961, PubMed:21784869). The complex formed by SNU13 and PRPF31 binds also U4atac snRNA, a characteristic component of specific, less abundant spliceosomal complexes (PubMed:21784869).
Interacts with PRPF6/U5 snRNP-associated 102 kDa protein (PubMed:11867543, PubMed:17412961, PubMed:26912367).
Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10 (PubMed:15960975).
Interacts (via its NLS) with CTNNBL1 (PubMed:21385873).
8 PublicationsSites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 247 | Interaction with U4 snRNA1 Publication | 1 | |
Sitei | 270 | Interaction with U4 snRNA and U4atac snRNA1 Publication | 1 | |
Sitei | 289 | Interaction with U4atac snRNA1 Publication | 1 | |
Sitei | 293 | Interaction with U4 snRNA and U4atac snRNA1 Publication | 1 | |
Sitei | 298 | Interaction with U4 snRNA and U4atac snRNA1 Publication | 1 |
Binary interactionsi
Q8WWY3
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 117563, 264 interactors |
CORUMi | Q8WWY3 |
IntActi | Q8WWY3, 201 interactors |
MINTi | Q8WWY3 |
STRINGi | 9606.ENSP00000324122 |
Miscellaneous databases
RNActi | Q8WWY3, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q8WWY3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q8WWY3 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 215 – 333 | NopPROSITE-ProRule annotationAdd BLAST | 119 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 85 – 120 | 1 PublicationAdd BLAST | 36 | |
Coiled coili | 181 – 215 | 1 PublicationAdd BLAST | 35 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 351 – 364 | Nuclear localization signal (NLS)1 PublicationAdd BLAST | 14 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 16 – 19 | Poly-Glu | 4 | |
Compositional biasi | 25 – 29 | Poly-Glu | 5 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG2574, Eukaryota |
GeneTreei | ENSGT00550000075069 |
InParanoidi | Q8WWY3 |
OMAi | EKEVGYG |
OrthoDBi | 791296at2759 |
PhylomeDBi | Q8WWY3 |
TreeFami | TF300677 |
Family and domain databases
Gene3Di | 1.10.246.90, 1 hit 1.10.287.660, 1 hit |
InterProi | View protein in InterPro IPR029012, Helix_hairpin_bin_sf IPR042239, Nop_C IPR002687, Nop_dom IPR036070, Nop_dom_sf IPR012976, NOSIC IPR027105, Prp31 IPR019175, Prp31_C |
PANTHERi | PTHR13904, PTHR13904, 1 hit |
Pfami | View protein in Pfam PF01798, Nop, 1 hit PF09785, Prp31_C, 1 hit |
SMARTi | View protein in SMART SM00931, NOSIC, 1 hit |
SUPFAMi | SSF89124, SSF89124, 1 hit |
PROSITEi | View protein in PROSITE PS51358, NOP, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
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
MSLADELLAD LEEAAEEEEG GSYGEEEEEP AIEDVQEETQ LDLSGDSVKT
60 70 80 90 100
IAKLWDSKMF AEIMMKIEEY ISKQAKASEV MGPVEAAPEY RVIVDANNLT
110 120 130 140 150
VEIENELNII HKFIRDKYSK RFPELESLVP NALDYIRTVK ELGNSLDKCK
160 170 180 190 200
NNENLQQILT NATIMVVSVT ASTTQGQQLS EEELERLEEA CDMALELNAS
210 220 230 240 250
KHRIYEYVES RMSFIAPNLS IIIGASTAAK IMGVAGGLTN LSKMPACNIM
260 270 280 290 300
LLGAQRKTLS GFSSTSVLPH TGYIYHSDIV QSLPPDLRRK AARLVAAKCT
310 320 330 340 350
LAARVDSFHE STEGKVGYEL KDEIERKFDK WQEPPPVKQV KPLPAPLDGQ
360 370 380 390 400
RKKRGGRRYR KMKERLGLTE IRKQANRMSF GEIEEDAYQE DLGFSLGHLG
410 420 430 440 450
KSGSGRVRQT QVNEATKARI SKTLQRTLQK QSVVYGGKST IRDRSSGTAS
460 470 480 490
SVAFTPLQGL EIVNPQAAEK KVAEANQKYF SSMAEFLKVK GEKSGLMST
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7EVX8 | E7EVX8_HUMAN | Pre-mRNA-processing factor 31 | PRPF31 | 493 | Annotation score: | ||
E7EN72 | E7EN72_HUMAN | U4/U6 small nuclear ribonucleoprote... | PRPF31 | 284 | Annotation score: | ||
E7ESX0 | E7ESX0_HUMAN | U4/U6 small nuclear ribonucleoprote... | PRPF31 | 276 | Annotation score: | ||
E7EU94 | E7EU94_HUMAN | U4/U6 small nuclear ribonucleoprote... | PRPF31 | 260 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 188 | E → D in AAK77986 (PubMed:11867543).Curated | 1 | |
Sequence conflicti | 235 | A → G in AAG48270 (PubMed:12747765).Curated | 1 | |
Sequence conflicti | 244 | M → V in CAB43677 (PubMed:11230166).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025629 | 111 – 114 | Missing in RP11; high penetrance. 1 Publication | 4 | |
Natural variantiVAR_025630 | 194 | A → E in RP11; mislocation of the protein in the cytoplasm and reduced interaction with PRPF6; the result may be a deficiency in splicing function in the retina. 3 PublicationsCorresponds to variant dbSNP:rs119475043EnsemblClinVar. | 1 | |
Natural variantiVAR_025631 | 216 | A → P in RP11; mislocation of the protein in the cytoplasm, but no effect on interaction with PRPF6; the result may be a deficiency in splicing function in the retina. 4 PublicationsCorresponds to variant dbSNP:rs119475042EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017581 | 1 – 80 | Missing in isoform 3. 1 PublicationAdd BLAST | 80 | |
Alternative sequenceiVSP_017582 | 333 – 364 | EPPPV…RKMKE → RRRWLRPTRSISPAWLSSSR SRARRVALCPPE in isoform 2. 1 PublicationAdd BLAST | 32 | |
Alternative sequenceiVSP_017583 | 359 – 499 | Missing in isoform 3. 1 PublicationAdd BLAST | 141 | |
Alternative sequenceiVSP_017584 | 365 – 499 | Missing in isoform 2. 1 PublicationAdd BLAST | 135 | |
Alternative sequenceiVSP_057390 | 426 – 499 | RTLQK…GLMST → VWARPRWGWGPRDTRWGEPR SQPPCPPHSGPCRSRASYMA GSPPSATAPRARPPAWPSPH SRAWRL in isoform 4. 1 PublicationAdd BLAST | 74 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY040822 mRNA Translation: AAK77986.1 AF308303 mRNA Translation: AAG48270.1 AL050369 mRNA Translation: CAB43677.1 AK098547 mRNA Translation: BAC05329.1 AB593024 mRNA Translation: BAJ83978.1 AB593025 mRNA Translation: BAJ83979.1 AC012314 Genomic DNA No translation available. AC245052 Genomic DNA No translation available. CH471135 Genomic DNA Translation: EAW72190.1 BC117389 mRNA Translation: AAI17390.1 |
CCDSi | CCDS12879.1 [Q8WWY3-1] |
RefSeqi | NP_056444.3, NM_015629.3 [Q8WWY3-1] XP_006723200.1, XM_006723137.3 [Q8WWY3-1] |
Genome annotation databases
Ensembli | ENST00000321030; ENSP00000324122; ENSG00000105618 [Q8WWY3-1] ENST00000419967; ENSP00000405166; ENSG00000105618 [Q8WWY3-4] ENST00000613693; ENSP00000483929; ENSG00000275885 [Q8WWY3-1] ENST00000619391; ENSP00000480636; ENSG00000275885 [Q8WWY3-4] |
GeneIDi | 26121 |
KEGGi | hsa:26121 |
UCSCi | uc002qdh.3, human [Q8WWY3-1] uc061cmv.1, human |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY040822 mRNA Translation: AAK77986.1 AF308303 mRNA Translation: AAG48270.1 AL050369 mRNA Translation: CAB43677.1 AK098547 mRNA Translation: BAC05329.1 AB593024 mRNA Translation: BAJ83978.1 AB593025 mRNA Translation: BAJ83979.1 AC012314 Genomic DNA No translation available. AC245052 Genomic DNA No translation available. CH471135 Genomic DNA Translation: EAW72190.1 BC117389 mRNA Translation: AAI17390.1 |
CCDSi | CCDS12879.1 [Q8WWY3-1] |
RefSeqi | NP_056444.3, NM_015629.3 [Q8WWY3-1] XP_006723200.1, XM_006723137.3 [Q8WWY3-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2OZB | X-ray | 2.60 | B/E | 78-333 | [»] | |
3JCR | electron microscopy | 7.00 | J | 1-499 | [»] | |
3SIU | X-ray | 2.63 | B/E | 85-333 | [»] | |
3SIV | X-ray | 3.30 | B/E/H/K | 85-333 | [»] | |
5O9Z | electron microscopy | 4.50 | H | 1-499 | [»] | |
6AH0 | electron microscopy | 5.70 | L | 1-499 | [»] | |
6AHD | electron microscopy | 3.80 | L | 1-499 | [»] | |
6QW6 | electron microscopy | 2.92 | 4C | 1-499 | [»] | |
6QX9 | electron microscopy | 3.28 | 4C | 1-499 | [»] | |
SMRi | Q8WWY3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 117563, 264 interactors |
CORUMi | Q8WWY3 |
IntActi | Q8WWY3, 201 interactors |
MINTi | Q8WWY3 |
STRINGi | 9606.ENSP00000324122 |
PTM databases
iPTMneti | Q8WWY3 |
MetOSitei | Q8WWY3 |
PhosphoSitePlusi | Q8WWY3 |
Polymorphism and mutation databases
BioMutai | PRPF31 |
DMDMi | 90101442 |
Proteomic databases
EPDi | Q8WWY3 |
jPOSTi | Q8WWY3 |
MassIVEi | Q8WWY3 |
MaxQBi | Q8WWY3 |
PaxDbi | Q8WWY3 |
PeptideAtlasi | Q8WWY3 |
PRIDEi | Q8WWY3 |
ProteomicsDBi | 17949 74955 [Q8WWY3-1] 74956 [Q8WWY3-2] 74957 [Q8WWY3-3] |
Protocols and materials databases
Antibodypediai | 32797, 268 antibodies |
DNASUi | 26121 |
Genome annotation databases
Ensembli | ENST00000321030; ENSP00000324122; ENSG00000105618 [Q8WWY3-1] ENST00000419967; ENSP00000405166; ENSG00000105618 [Q8WWY3-4] ENST00000613693; ENSP00000483929; ENSG00000275885 [Q8WWY3-1] ENST00000619391; ENSP00000480636; ENSG00000275885 [Q8WWY3-4] |
GeneIDi | 26121 |
KEGGi | hsa:26121 |
UCSCi | uc002qdh.3, human [Q8WWY3-1] uc061cmv.1, human |
Organism-specific databases
CTDi | 26121 |
DisGeNETi | 26121 |
EuPathDBi | HostDB:ENSG00000105618.13 |
GeneCardsi | PRPF31 |
GeneReviewsi | PRPF31 |
HGNCi | HGNC:15446, PRPF31 |
HPAi | ENSG00000105618, Low tissue specificity |
MalaCardsi | PRPF31 |
MIMi | 600138, phenotype 606419, gene |
neXtProti | NX_Q8WWY3 |
OpenTargetsi | ENSG00000105618 |
Orphaneti | 791, Retinitis pigmentosa |
PharmGKBi | PA33814 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2574, Eukaryota |
GeneTreei | ENSGT00550000075069 |
InParanoidi | Q8WWY3 |
OMAi | EKEVGYG |
OrthoDBi | 791296at2759 |
PhylomeDBi | Q8WWY3 |
TreeFami | TF300677 |
Enzyme and pathway databases
PathwayCommonsi | Q8WWY3 |
Reactomei | R-HSA-72163, mRNA Splicing - Major Pathway |
Miscellaneous databases
BioGRID-ORCSi | 26121, 724 hits in 848 CRISPR screens |
ChiTaRSi | PRPF31, human |
EvolutionaryTracei | Q8WWY3 |
GeneWikii | PRPF31 |
GenomeRNAii | 26121 |
Pharosi | Q8WWY3, Tbio |
PROi | PR:Q8WWY3 |
RNActi | Q8WWY3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000105618, Expressed in heart left ventricle and 248 other tissues |
ExpressionAtlasi | Q8WWY3, baseline and differential |
Genevisiblei | Q8WWY3, HS |
Family and domain databases
Gene3Di | 1.10.246.90, 1 hit 1.10.287.660, 1 hit |
InterProi | View protein in InterPro IPR029012, Helix_hairpin_bin_sf IPR042239, Nop_C IPR002687, Nop_dom IPR036070, Nop_dom_sf IPR012976, NOSIC IPR027105, Prp31 IPR019175, Prp31_C |
PANTHERi | PTHR13904, PTHR13904, 1 hit |
Pfami | View protein in Pfam PF01798, Nop, 1 hit PF09785, Prp31_C, 1 hit |
SMARTi | View protein in SMART SM00931, NOSIC, 1 hit |
SUPFAMi | SSF89124, SSF89124, 1 hit |
PROSITEi | View protein in PROSITE PS51358, NOP, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PRP31_HUMAN | |
Accessioni | Q8WWY3Primary (citable) accession number: Q8WWY3 Secondary accession number(s): E7ESA8 Q9Y439 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 21, 2006 |
Last sequence update: | March 21, 2006 | |
Last modified: | December 2, 2020 | |
This is version 170 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, Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - 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 - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations