UniProtKB - O95602 (RPA1_HUMAN)
DNA-directed RNA polymerase I subunit RPA1
POLR1A
Functioni
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Largest and catalytic core component of RNA polymerase I which synthesizes ribosomal RNA precursors. Forms the polymerase active center together with the second largest subunit. A single stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol I. A bridging helix emanates from RPA1 and crosses the cleft near the catalytic site and is thought to promote translocation of Pol I by acting as a ratchet that moves the RNA-DNA hybrid through the active site by switching from straight to bent conformations at each step of nucleotide addition (By similarity).
By similarityCatalytic activityi
- EC:2.7.7.6
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 64 | ZincBy similarity | 1 | |
Metal bindingi | 67 | ZincBy similarity | 1 | |
Metal bindingi | 74 | ZincBy similarity | 1 | |
Metal bindingi | 77 | ZincBy similarity | 1 | |
Metal bindingi | 588 | Magnesium; catalyticBy similarity | 1 | |
Metal bindingi | 590 | Magnesium; catalyticBy similarity | 1 | |
Metal bindingi | 592 | Magnesium; catalyticBy similarity | 1 |
GO - Molecular functioni
- chromatin binding Source: UniProtKB
- DNA binding Source: InterPro
- RNA polymerase I activity Source: ParkinsonsUK-UCL
- zinc ion binding Source: InterPro
GO - Biological processi
- negative regulation of protein localization to nucleolus Source: ParkinsonsUK-UCL
Keywordsi
Molecular function | Nucleotidyltransferase, Transferase |
Biological process | Transcription |
Ligand | Magnesium, Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | O95602 |
Reactomei | R-HSA-427413, NoRC negatively regulates rRNA expression R-HSA-5250924, B-WICH complex positively regulates rRNA expression R-HSA-73762, RNA Polymerase I Transcription Initiation R-HSA-73772, RNA Polymerase I Promoter Escape R-HSA-73863, RNA Polymerase I Transcription Termination |
SignaLinki | O95602 |
SIGNORi | O95602 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA-directed RNA polymerase I subunit RPA1 (EC:2.7.7.6)Short name: RNA polymerase I subunit A1 Alternative name(s): A190 DNA-directed RNA polymerase I largest subunit DNA-directed RNA polymerase I subunit A RNA polymerase I 194 kDa subunit Short name: RPA194 |
Gene namesi | Name:POLR1A |
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:17264, POLR1A |
MIMi | 616404, gene |
neXtProti | NX_O95602 |
VEuPathDBi | HostDB:ENSG00000068654 |
Subcellular locationi
Nucleus
- nucleolus By similarity
Other locations
- Chromosome By similarity
Nucleus
- nucleoplasm Source: Reactome
- RNA polymerase I complex Source: GO_Central
Other locations
- chromosome Source: UniProtKB
Keywords - Cellular componenti
Chromosome, DNA-directed RNA polymerase, NucleusPathology & Biotechi
Involvement in diseasei
Acrofacial dysostosis, Cincinnati type (AFDCIN)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073964 | 593 | E → Q in AFDCIN. 1 PublicationCorresponds to variant dbSNP:rs794729674EnsemblClinVar. | 1 | |
Natural variantiVAR_073965 | 1299 | V → F in AFDCIN. 1 PublicationCorresponds to variant dbSNP:rs751377255Ensembl. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 25885 |
MalaCardsi | POLR1A |
MIMi | 616462, phenotype |
OpenTargetsi | ENSG00000068654 |
Orphaneti | 1200, Burn-McKeown syndrome |
PharmGKBi | PA134891380 |
Miscellaneous databases
Pharosi | O95602, Tchem |
Chemistry databases
ChEMBLi | CHEMBL3286067 |
Genetic variation databases
BioMutai | POLR1A |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000073923 | 1 – 1720 | DNA-directed RNA polymerase I subunit RPA1Add BLAST | 1720 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 240 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1386 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O95602 |
jPOSTi | O95602 |
MassIVEi | O95602 |
MaxQBi | O95602 |
PaxDbi | O95602 |
PeptideAtlasi | O95602 |
PRIDEi | O95602 |
ProteomicsDBi | 50948 |
2D gel databases
SWISS-2DPAGEi | O95602 |
PTM databases
iPTMneti | O95602 |
MetOSitei | O95602 |
PhosphoSitePlusi | O95602 |
SwissPalmi | O95602 |
Expressioni
Gene expression databases
Bgeei | ENSG00000068654, Expressed in sural nerve and 163 other tissues |
ExpressionAtlasi | O95602, baseline and differential |
Genevisiblei | O95602, HS |
Organism-specific databases
HPAi | ENSG00000068654, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
O95602
Protein-protein interaction databases
BioGRIDi | 117396, 141 interactors |
CORUMi | O95602 |
DIPi | DIP-27537N |
IntActi | O95602, 68 interactors |
MINTi | O95602 |
STRINGi | 9606.ENSP00000263857 |
Chemistry databases
BindingDBi | O95602 |
Miscellaneous databases
RNActi | O95602, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 961 – 973 | Bridging helixBy similarityAdd BLAST | 13 | |
Regioni | 1365 – 1498 | DisorderedSequence analysisAdd BLAST | 134 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1371 – 1394 | Basic and acidic residuesSequence analysisAdd BLAST | 24 | |
Compositional biasi | 1395 – 1409 | Acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 1410 – 1424 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 1425 – 1445 | Acidic residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 1446 – 1465 | Basic and acidic residuesSequence analysisAdd BLAST | 20 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0262, Eukaryota |
GeneTreei | ENSGT00920000149138 |
InParanoidi | O95602 |
OMAi | RFFNRED |
OrthoDBi | 591636at2759 |
PhylomeDBi | O95602 |
TreeFami | TF103033 |
Family and domain databases
Gene3Di | 1.10.132.30, 1 hit 1.10.274.100, 1 hit 4.10.860.120, 1 hit |
InterProi | View protein in InterPro IPR015699, DNA-dir_RNA_pol1_lsu IPR045867, DNA-dir_RpoC_beta_prime IPR000722, RNA_pol_asu IPR006592, RNA_pol_N IPR007080, RNA_pol_Rpb1_1 IPR007066, RNA_pol_Rpb1_3 IPR042102, RNA_pol_Rpb1_3_sf IPR007083, RNA_pol_Rpb1_4 IPR007081, RNA_pol_Rpb1_5 IPR044893, RNA_pol_Rpb1_clamp_domain IPR038120, Rpb1_funnel_sf |
PANTHERi | PTHR19376, PTHR19376, 1 hit PTHR19376:SF11, PTHR19376:SF11, 1 hit |
Pfami | View protein in Pfam PF04997, RNA_pol_Rpb1_1, 1 hit PF00623, RNA_pol_Rpb1_2, 1 hit PF04983, RNA_pol_Rpb1_3, 1 hit PF05000, RNA_pol_Rpb1_4, 1 hit PF04998, RNA_pol_Rpb1_5, 1 hit |
SMARTi | View protein in SMART SM00663, RPOLA_N, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MLISKNMPWR RLQGISFGMY SAEELKKLSV KSITNPRYLD SLGNPSANGL
60 70 80 90 100
YDLALGPADS KEVCSTCVQD FSNCSGHLGH IELPLTVYNP LLFDKLYLLL
110 120 130 140 150
RGSCLNCHML TCPRAVIHLL LCQLRVLEVG ALQAVYELER ILNRFLEENP
160 170 180 190 200
DPSASEIREE LEQYTTEIVQ NNLLGSQGAH VKNVCESKSK LIALFWKAHM
210 220 230 240 250
NAKRCPHCKT GRSVVRKEHN SKLTITFPAM VHRTAGQKDS EPLGIEEAQI
260 270 280 290 300
GKRGYLTPTS AREHLSALWK NEGFFLNYLF SGMDDDGMES RFNPSVFFLD
310 320 330 340 350
FLVVPPSRYR PVSRLGDQMF TNGQTVNLQA VMKDVVLIRK LLALMAQEQK
360 370 380 390 400
LPEEVATPTT DEEKDSLIAI DRSFLSTLPG QSLIDKLYNI WIRLQSHVNI
410 420 430 440 450
VFDSEMDKLM MDKYPGIRQI LEKKEGLFRK HMMGKRVDYA ARSVICPDMY
460 470 480 490 500
INTNEIGIPM VFATKLTYPQ PVTPWNVQEL RQAVINGPNV HPGASMVINE
510 520 530 540 550
DGSRTALSAV DMTQREAVAK QLLTPATGAP KPQGTKIVCR HVKNGDILLL
560 570 580 590 600
NRQPTLHRPS IQAHRARILP EEKVLRLHYA NCKAYNADFD GDEMNAHFPQ
610 620 630 640 650
SELGRAEAYV LACTDQQYLV PKDGQPLAGL IQDHMVSGAS MTTRGCFFTR
660 670 680 690 700
EHYMELVYRG LTDKVGRVKL LSPSILKPFP LWTGKQVVST LLINIIPEDH
710 720 730 740 750
IPLNLSGKAK ITGKAWVKET PRSVPGFNPD SMCESQVIIR EGELLCGVLD
760 770 780 790 800
KAHYGSSAYG LVHCCYEIYG GETSGKVLTC LARLFTAYLQ LYRGFTLGVE
810 820 830 840 850
DILVKPKADV KRQRIIEEST HCGPQAVRAA LNLPEAASYD EVRGKWQDAH
860 870 880 890 900
LGKDQRDFNM IDLKFKEEVN HYSNEINKAC MPFGLHRQFP ENSLQMMVQS
910 920 930 940 950
GAKGSTVNTM QISCLLGQIE LEGRRPPLMA SGKSLPCFEP YEFTPRAGGF
960 970 980 990 1000
VTGRFLTGIK PPEFFFHCMA GREGLVDTAV KTSRSGYLQR CIIKHLEGLV
1010 1020 1030 1040 1050
VQYDLTVRDS DGSVVQFLYG EDGLDIPKTQ FLQPKQFPFL ASNYEVIMKS
1060 1070 1080 1090 1100
QHLHEVLSRA DPKKALHHFR AIKKWQSKHP NTLLRRGAFL SYSQKIQEAV
1110 1120 1130 1140 1150
KALKLESENR NGRSPGTQEM LRMWYELDEE SRRKYQKKAA ACPDPSLSVW
1160 1170 1180 1190 1200
RPDIYFASVS ETFETKVDDY SQEWAAQTEK SYEKSELSLD RLRTLLQLKW
1210 1220 1230 1240 1250
QRSLCEPGEA VGLLAAQSIG EPSTQMTLNT FHFAGRGEMN VTLGIPRLRE
1260 1270 1280 1290 1300
ILMVASANIK TPMMSVPVLN TKKALKRVKS LKKQLTRVCL GEVLQKIDVQ
1310 1320 1330 1340 1350
ESFCMEEKQN KFQVYQLRFQ FLPHAYYQQE KCLRPEDILR FMETRFFKLL
1360 1370 1380 1390 1400
MESIKKKNNK ASAFRNVNTR RATQRDLDNA GELGRSRGEQ EGDEEEEGHI
1410 1420 1430 1440 1450
VDAEAEEGDA DASDAKRKEK QEEEVDYESE EEEEREGEEN DDEDMQEERN
1460 1470 1480 1490 1500
PHREGARKTQ EQDEEVGLGT EEDPSLPALL TQPRKPTHSQ EPQGPEAMER
1510 1520 1530 1540 1550
RVQAVREIHP FIDDYQYDTE ESLWCQVTVK LPLMKINFDM SSLVVSLAHG
1560 1570 1580 1590 1600
AVIYATKGIT RCLLNETTNN KNEKELVLNT EGINLPELFK YAEVLDLRRL
1610 1620 1630 1640 1650
YSNDIHAIAN TYGIEAALRV IEKEIKDVFA VYGIAVDPRH LSLVADYMCF
1660 1670 1680 1690 1700
EGVYKPLNRF GIRSNSSPLQ QMTFETSFQF LKQATMLGSH DELRSPSACL
1710 1720
VVGKVVRGGT GLFELKQPLR
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB9ZVN9 | B9ZVN9_HUMAN | DNA-directed RNA polymerase subunit | POLR1A | 1,659 | Annotation score: | ||
F2Z3I7 | F2Z3I7_HUMAN | DNA-directed RNA polymerase I subun... | POLR1A | 42 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 143 | N → S in AAC99959 (Ref. 1) Curated | 1 | |
Sequence conflicti | 309 | Y → S in AAC99959 (Ref. 1) Curated | 1 | |
Sequence conflicti | 411 | M → R in AAC99959 (Ref. 1) Curated | 1 | |
Sequence conflicti | 439 – 440 | YA → ST in AAC99959 (Ref. 1) Curated | 2 | |
Sequence conflicti | 808 | A → R in AAC99959 (Ref. 1) Curated | 1 | |
Sequence conflicti | 893 | S → T in AAC99959 (Ref. 1) Curated | 1 | |
Sequence conflicti | 896 | M → L in AAC99959 (Ref. 1) Curated | 1 | |
Sequence conflicti | 925 – 926 | RP → ST in AAC99959 (Ref. 1) Curated | 2 | |
Sequence conflicti | 986 | G → A in AAD09356 (Ref. 1) Curated | 1 | |
Sequence conflicti | 1371 – 1373 | RAT → TRI in AAD09356 (Ref. 1) Curated | 3 | |
Sequence conflicti | 1470 – 1471 | Missing in AAC99959 (Ref. 1) Curated | 2 | |
Sequence conflicti | 1616 | Missing in AAC99959 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_047493 | 150 | P → A2 PublicationsCorresponds to variant dbSNP:rs4832242Ensembl. | 1 | |
Natural variantiVAR_047494 | 349 | Q → E. Corresponds to variant dbSNP:rs17026866Ensembl. | 1 | |
Natural variantiVAR_047495 | 364 | K → E. Corresponds to variant dbSNP:rs35239368Ensembl. | 1 | |
Natural variantiVAR_047496 | 396 | S → N. Corresponds to variant dbSNP:rs35443467EnsemblClinVar. | 1 | |
Natural variantiVAR_073964 | 593 | E → Q in AFDCIN. 1 PublicationCorresponds to variant dbSNP:rs794729674EnsemblClinVar. | 1 | |
Natural variantiVAR_047497 | 815 | I → V. Corresponds to variant dbSNP:rs34302587EnsemblClinVar. | 1 | |
Natural variantiVAR_047498 | 1141 | A → T. Corresponds to variant dbSNP:rs34892520Ensembl. | 1 | |
Natural variantiVAR_073965 | 1299 | V → F in AFDCIN. 1 PublicationCorresponds to variant dbSNP:rs751377255Ensembl. | 1 | |
Natural variantiVAR_047499 | 1608 | I → M. Corresponds to variant dbSNP:rs35093541EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U33460 mRNA Translation: AAC99959.1 Frameshift. AH007280 Transcribed RNA Translation: AAD09356.1 Frameshift. AK302458 mRNA Translation: BAH13716.1 CH471053 Genomic DNA Translation: EAW99467.1 CH471053 Genomic DNA Translation: EAW99469.1 BC117173 mRNA Translation: AAI17174.1 BC126303 mRNA Translation: AAI26304.1 AL117467 mRNA Translation: CAB55942.1 |
CCDSi | CCDS42706.1 |
PIRi | T17252 |
RefSeqi | NP_056240.2, NM_015425.4 |
Genome annotation databases
Ensembli | ENST00000263857; ENSP00000263857; ENSG00000068654 |
GeneIDi | 25885 |
KEGGi | hsa:25885 |
MANE-Selecti | ENST00000263857.11; ENSP00000263857.6; NM_015425.6; NP_056240.2 |
UCSCi | uc002sqs.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U33460 mRNA Translation: AAC99959.1 Frameshift. AH007280 Transcribed RNA Translation: AAD09356.1 Frameshift. AK302458 mRNA Translation: BAH13716.1 CH471053 Genomic DNA Translation: EAW99467.1 CH471053 Genomic DNA Translation: EAW99469.1 BC117173 mRNA Translation: AAI17174.1 BC126303 mRNA Translation: AAI26304.1 AL117467 mRNA Translation: CAB55942.1 |
CCDSi | CCDS42706.1 |
PIRi | T17252 |
RefSeqi | NP_056240.2, NM_015425.4 |
3D structure databases
SMRi | O95602 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 117396, 141 interactors |
CORUMi | O95602 |
DIPi | DIP-27537N |
IntActi | O95602, 68 interactors |
MINTi | O95602 |
STRINGi | 9606.ENSP00000263857 |
Chemistry databases
BindingDBi | O95602 |
ChEMBLi | CHEMBL3286067 |
PTM databases
iPTMneti | O95602 |
MetOSitei | O95602 |
PhosphoSitePlusi | O95602 |
SwissPalmi | O95602 |
Genetic variation databases
BioMutai | POLR1A |
2D gel databases
SWISS-2DPAGEi | O95602 |
Proteomic databases
EPDi | O95602 |
jPOSTi | O95602 |
MassIVEi | O95602 |
MaxQBi | O95602 |
PaxDbi | O95602 |
PeptideAtlasi | O95602 |
PRIDEi | O95602 |
ProteomicsDBi | 50948 |
Protocols and materials databases
Antibodypediai | 4117, 118 antibodies from 27 providers |
DNASUi | 25885 |
Genome annotation databases
Ensembli | ENST00000263857; ENSP00000263857; ENSG00000068654 |
GeneIDi | 25885 |
KEGGi | hsa:25885 |
MANE-Selecti | ENST00000263857.11; ENSP00000263857.6; NM_015425.6; NP_056240.2 |
UCSCi | uc002sqs.4, human |
Organism-specific databases
CTDi | 25885 |
DisGeNETi | 25885 |
GeneCardsi | POLR1A |
HGNCi | HGNC:17264, POLR1A |
HPAi | ENSG00000068654, Low tissue specificity |
MalaCardsi | POLR1A |
MIMi | 616404, gene 616462, phenotype |
neXtProti | NX_O95602 |
OpenTargetsi | ENSG00000068654 |
Orphaneti | 1200, Burn-McKeown syndrome |
PharmGKBi | PA134891380 |
VEuPathDBi | HostDB:ENSG00000068654 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0262, Eukaryota |
GeneTreei | ENSGT00920000149138 |
InParanoidi | O95602 |
OMAi | RFFNRED |
OrthoDBi | 591636at2759 |
PhylomeDBi | O95602 |
TreeFami | TF103033 |
Enzyme and pathway databases
PathwayCommonsi | O95602 |
Reactomei | R-HSA-427413, NoRC negatively regulates rRNA expression R-HSA-5250924, B-WICH complex positively regulates rRNA expression R-HSA-73762, RNA Polymerase I Transcription Initiation R-HSA-73772, RNA Polymerase I Promoter Escape R-HSA-73863, RNA Polymerase I Transcription Termination |
SignaLinki | O95602 |
SIGNORi | O95602 |
Miscellaneous databases
BioGRID-ORCSi | 25885, 681 hits in 1019 CRISPR screens |
ChiTaRSi | POLR1A, human |
GeneWikii | POLR1A |
GenomeRNAii | 25885 |
Pharosi | O95602, Tchem |
PROi | PR:O95602 |
RNActi | O95602, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000068654, Expressed in sural nerve and 163 other tissues |
ExpressionAtlasi | O95602, baseline and differential |
Genevisiblei | O95602, HS |
Family and domain databases
Gene3Di | 1.10.132.30, 1 hit 1.10.274.100, 1 hit 4.10.860.120, 1 hit |
InterProi | View protein in InterPro IPR015699, DNA-dir_RNA_pol1_lsu IPR045867, DNA-dir_RpoC_beta_prime IPR000722, RNA_pol_asu IPR006592, RNA_pol_N IPR007080, RNA_pol_Rpb1_1 IPR007066, RNA_pol_Rpb1_3 IPR042102, RNA_pol_Rpb1_3_sf IPR007083, RNA_pol_Rpb1_4 IPR007081, RNA_pol_Rpb1_5 IPR044893, RNA_pol_Rpb1_clamp_domain IPR038120, Rpb1_funnel_sf |
PANTHERi | PTHR19376, PTHR19376, 1 hit PTHR19376:SF11, PTHR19376:SF11, 1 hit |
Pfami | View protein in Pfam PF04997, RNA_pol_Rpb1_1, 1 hit PF00623, RNA_pol_Rpb1_2, 1 hit PF04983, RNA_pol_Rpb1_3, 1 hit PF05000, RNA_pol_Rpb1_4, 1 hit PF04998, RNA_pol_Rpb1_5, 1 hit |
SMARTi | View protein in SMART SM00663, RPOLA_N, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | RPA1_HUMAN | |
Accessioni | O95602Primary (citable) accession number: O95602 Secondary accession number(s): B7Z7T0 Q9UFT9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | November 25, 2008 | |
Last modified: | February 23, 2022 | |
This is version 194 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
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: 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 - SIMILARITY comments
Index of protein domains and families