UniProtKB - O00712 (NFIB_HUMAN)
Nuclear factor 1 B-type
NFIB
Functioni
Transcriptional activator of GFAP, essential for proper brain development (PubMed:30388402).
Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.
1 PublicationRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 1 – 195 | CTF/NF-IPROSITE-ProRule annotationAdd BLAST | 195 |
GO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: UniProtKB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- transcription regulator inhibitor activity Source: GO_Central
GO - Biological processi
- anterior commissure morphogenesis Source: UniProtKB
- brain development Source: UniProtKB
- cell differentiation involved in salivary gland development Source: Ensembl
- chondrocyte differentiation Source: UniProtKB
- club cell differentiation Source: UniProtKB
- commissural neuron axon guidance Source: UniProtKB
- DNA replication Source: UniProtKB-KW
- glial cell differentiation Source: UniProtKB
- hindbrain development Source: Ensembl
- lung ciliated cell differentiation Source: UniProtKB
- negative regulation of DNA binding Source: UniProtKB
- negative regulation of epithelial cell proliferation involved in lung morphogenesis Source: UniProtKB
- negative regulation of mesenchymal cell proliferation involved in lung development Source: UniProtKB
- negative regulation of miRNA transcription Source: BHF-UCL
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- principal sensory nucleus of trigeminal nerve development Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- response to bacterium Source: Ensembl
- salivary gland cavitation Source: Ensembl
- type II pneumocyte differentiation Source: UniProtKB
- type I pneumocyte differentiation Source: UniProtKB
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | DNA replication, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | O00712 |
Reactomei | R-HSA-73980, RNA Polymerase III Transcription Termination R-HSA-749476, RNA Polymerase III Abortive And Retractive Initiation |
SignaLinki | O00712 |
SIGNORi | O00712 |
Names & Taxonomyi
Protein namesi | Recommended name: Nuclear factor 1 B-typeShort name: NF1-B Short name: Nuclear factor 1/B Alternative name(s): CCAAT-box-binding transcription factor Short name: CTF Nuclear factor I/B Short name: NF-I/B Short name: NFI-B TGGCA-binding protein |
Gene namesi | Name:NFIB |
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:7785, NFIB |
MIMi | 600728, gene |
neXtProti | NX_O00712 |
VEuPathDBi | HostDB:ENSG00000147862 |
Subcellular locationi
Nucleus
Nucleus
- fibrillar center Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cerebellar mossy fiber Source: UniProtKB
- chromatin Source: NTNU_SB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Macrocephaly, acquired, with impaired intellectual development (MACID)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081859 | 37 – 420 | Missing in MACID. 1 PublicationAdd BLAST | 384 | |
Natural variantiVAR_081860 | 89 – 420 | Missing in MACID. 1 PublicationAdd BLAST | 332 | |
Natural variantiVAR_081861 | 114 | K → T in MACID; significant decrease of GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554709683EnsemblClinVar. | 1 | |
Natural variantiVAR_081862 | 126 | K → E in MACID; significant decrease of GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554709662EnsemblClinVar. | 1 | |
Natural variantiVAR_081863 | 132 | L → P in MACID; significant decrease of GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554709654EnsemblClinVar. | 1 | |
Natural variantiVAR_081864 | 356 | S → L in MACID; likely benign variant; does not affect GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554639196EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 4781 |
MalaCardsi | NFIB |
MIMi | 618286, phenotype |
OpenTargetsi | ENSG00000147862 |
PharmGKBi | PA31591 |
Miscellaneous databases
Pharosi | O00712, Tbio |
Genetic variation databases
BioMutai | NFIB |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000100195 | 1 – 420 | Nuclear factor 1 B-typeAdd BLAST | 420 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 264 | PhosphoserineCombined sources | 1 | |
Modified residuei | 286 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 292 | PhosphoserineCombined sources | 1 | |
Modified residuei | 295 | PhosphoserineCombined sources | 1 | |
Modified residuei | 312 | PhosphoserineCombined sources | 1 | |
Modified residuei | 328 | PhosphoserineCombined sources | 1 | |
Modified residuei | 333 | PhosphoserineCombined sources | 1 | |
Modified residuei | 335 | Asymmetric dimethylarginineBy similarity | 1 | |
Modified residuei | 388 | Asymmetric dimethylarginineBy similarity | 1 |
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
EPDi | O00712 |
jPOSTi | O00712 |
MassIVEi | O00712 |
MaxQBi | O00712 |
PaxDbi | O00712 |
PeptideAtlasi | O00712 |
PRIDEi | O00712 |
ProteomicsDBi | 32394 43594 48006 [O00712-1] 48007 [O00712-2] 65511 |
PTM databases
GlyGeni | O00712, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | O00712 |
PhosphoSitePlusi | O00712 |
Expressioni
Gene expression databases
Bgeei | ENSG00000147862, Expressed in cerebral cortex and 260 other tissues |
ExpressionAtlasi | O00712, baseline and differential |
Genevisiblei | O00712, HS |
Organism-specific databases
HPAi | ENSG00000147862, Low tissue specificity |
Interactioni
Subunit structurei
Binds DNA as a homodimer.
Binary interactionsi
O00712
With | #Exp. | IntAct |
---|---|---|
NFIC [P08651] | 5 | EBI-10963452,EBI-741360 |
Protein-protein interaction databases
BioGRIDi | 110853, 30 interactors |
DIPi | DIP-61433N |
IntActi | O00712, 119 interactors |
STRINGi | 9606.ENSP00000370340 |
Miscellaneous databases
RNActi | O00712, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 189 – 208 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 252 – 364 | DisorderedSequence analysisAdd BLAST | 113 | |
Regioni | 377 – 420 | DisorderedSequence analysisAdd BLAST | 44 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 397 – 405 | 9aaTAD1 Publication | 9 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 252 – 274 | Polar residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 287 – 301 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 318 – 339 | Polar residuesSequence analysisAdd BLAST | 22 | |
Compositional biasi | 398 – 420 | Polar residuesSequence analysisAdd BLAST | 23 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3663, Eukaryota |
GeneTreei | ENSGT00950000182916 |
HOGENOMi | CLU_061490_0_0_1 |
InParanoidi | O00712 |
PhylomeDBi | O00712 |
TreeFami | TF313889 |
Family and domain databases
InterProi | View protein in InterPro IPR000647, CTF/NFI IPR020604, CTF/NFI_DNA-bd-dom IPR019739, CTF/NFI_DNA-bd_CS IPR019548, CTF/NFI_DNA-bd_N IPR003619, MAD_homology1_Dwarfin-type |
PANTHERi | PTHR11492, PTHR11492, 1 hit |
Pfami | View protein in Pfam PF00859, CTF_NFI, 1 hit PF03165, MH1, 1 hit PF10524, NfI_DNAbd_pre-N, 1 hit |
SMARTi | View protein in SMART SM00523, DWA, 1 hit |
PROSITEi | View protein in PROSITE PS00349, CTF_NFI_1, 1 hit PS51080, CTF_NFI_2, 1 hit |
s (6+)i Sequence
Sequence statusi: Complete.
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 16 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
MMYSPICLTQ DEFHPFIEAL LPHVRAIAYT WFNLQARKRK YFKKHEKRMS
60 70 80 90 100
KDEERAVKDE LLSEKPEIKQ KWASRLLAKL RKDIRQEYRE DFVLTVTGKK
110 120 130 140 150
HPCCVLSNPD QKGKIRRIDC LRQADKVWRL DLVMVILFKG IPLESTDGER
160 170 180 190 200
LMKSPHCTNP ALCVQPHHIT VSVKELDLFL AYYVQEQDSG QSGSPSHNDP
210 220 230 240 250
AKNPPGYLED SFVKSGVFNV SELVRVSRTP ITQGTGVNFP IGEIPSQPYY
260 270 280 290 300
HDMNSGVNLQ RSLSSPPSSK RPKTISIDEN MEPSPTGDFY PSPSSPAAGS
310 320 330 340 350
RTWHERDQDM SSPTTMKKPE KPLFSSASPQ DSSPRLSTFP QHHHPGIPGV
360 370 380 390 400
AHSVISTRTP PPPSPLPFPT QAILPPAPSS YFSHPTIRYP PHLNPQDTLK
410 420
NYVPSYDPSS PQTSQSWYLG
Computationally mapped potential isoform sequencesi
There are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5VW26 | Q5VW26_HUMAN | Nuclear factor 1 | NFIB hCG_1742080 | 570 | Annotation score: | ||
A0A0A0MRX8 | A0A0A0MRX8_HUMAN | Nuclear factor 1 | NFIB | 446 | Annotation score: | ||
Q5VW27 | Q5VW27_HUMAN | Nuclear factor 1 | NFIB hCG_1742080 | 487 | Annotation score: | ||
Q5VW30 | Q5VW30_HUMAN | Nuclear factor 1 | NFIB hCG_1742080 | 561 | Annotation score: | ||
U3KQE8 | U3KQE8_HUMAN | Nuclear factor 1 | NFIB | 416 | Annotation score: | ||
A0A2R8Y7V8 | A0A2R8Y7V8_HUMAN | Nuclear factor 1 | NFIB | 566 | Annotation score: | ||
A0A1B0GU97 | A0A1B0GU97_HUMAN | Nuclear factor 1 | NFIB | 478 | Annotation score: | ||
A0A1B0GW37 | A0A1B0GW37_HUMAN | Nuclear factor 1 | NFIB | 411 | Annotation score: | ||
A0A1B0GWJ4 | A0A1B0GWJ4_HUMAN | Nuclear factor 1 | NFIB | 445 | Annotation score: | ||
A0A1B0GWI9 | A0A1B0GWI9_HUMAN | Nuclear factor 1 | NFIB | 480 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 17 | I → M in AAB41899 (PubMed:9484777).Curated | 1 | |
Sequence conflicti | 37 | R → G in BAD18416 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 74 | S → F in BX648845 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 198 | N → S in BAD18416 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 284 | S → R in BX648845 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081859 | 37 – 420 | Missing in MACID. 1 PublicationAdd BLAST | 384 | |
Natural variantiVAR_081860 | 89 – 420 | Missing in MACID. 1 PublicationAdd BLAST | 332 | |
Natural variantiVAR_081861 | 114 | K → T in MACID; significant decrease of GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554709683EnsemblClinVar. | 1 | |
Natural variantiVAR_081862 | 126 | K → E in MACID; significant decrease of GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554709662EnsemblClinVar. | 1 | |
Natural variantiVAR_081863 | 132 | L → P in MACID; significant decrease of GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554709654EnsemblClinVar. | 1 | |
Natural variantiVAR_081864 | 356 | S → L in MACID; likely benign variant; does not affect GFAP transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs1554639196EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054713 | 1 – 252 | Missing in isoform 6. 1 PublicationAdd BLAST | 252 | |
Alternative sequenceiVSP_044462 | 1 – 10 | MMYSPICLTQ → MERIPVSVDFWVVCCAVLKC NPGIPMERIPVSVDFWVVCC AVLKCNPGIPKRMSTLCFGF S in isoform 4. 1 Publication | 10 | |
Alternative sequenceiVSP_003545 | 187 – 188 | QD → AR in isoform 3. 1 Publication | 2 | |
Alternative sequenceiVSP_003546 | 189 – 420 | Missing in isoform 3. 1 PublicationAdd BLAST | 232 | |
Alternative sequenceiVSP_054714 | 416 – 420 | SWYLG → PNGSGQVVGKVPGHFTPVLA PSPHPSAVRPVTLSMTDTKP ITTSTEAYTASGTSQANRYV GLSPRDPSFLHQQQLRICDW TMNQNGRHLYPSTSEDTLGI TWQSPGTWASLVPFQVSNRT PILPANVQNYGLNIIGEPFL QAETSN in isoform 6. 1 Publication | 5 | |
Alternative sequenceiVSP_045065 | 416 | S → PNGSGQVVGKVPGHFTPVLA PSPHPSAVRPVTLSMTDTKP ITTSTEAYTASGTSQANRYV GLSPRDPSFLHQQQS in isoform 5. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U85193 mRNA Translation: AAB41899.1 U70862 mRNA Translation: AAB51197.1 BT007266 mRNA Translation: AAP35930.1 AK131233 mRNA Translation: BAD18416.1 BX648416 mRNA Translation: CAH56156.1 BX648845 mRNA No translation available. AL136366 Genomic DNA No translation available. AL441963 Genomic DNA No translation available. AL137017 Genomic DNA No translation available. AL449443 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58697.1 CH471071 Genomic DNA Translation: EAW58699.1 BC001283 mRNA Translation: AAH01283.1 U07810 mRNA Translation: AAA93125.1 |
CCDSi | CCDS55291.1 [O00712-5] CCDS6474.1 [O00712-1] CCDS65007.1 [O00712-6] |
RefSeqi | NP_001177666.1, NM_001190737.1 [O00712-5] NP_001177667.1, NM_001190738.1 NP_001269716.1, NM_001282787.1 [O00712-6] NP_005587.2, NM_005596.3 [O00712-1] |
Genome annotation databases
Ensembli | ENST00000380953.6; ENSP00000370340.1; ENSG00000147862.18 [O00712-5] ENST00000380959.7; ENSP00000370346.3; ENSG00000147862.18 ENST00000543693.5; ENSP00000442888.1; ENSG00000147862.18 [O00712-6] |
GeneIDi | 4781 |
KEGGi | hsa:4781 |
MANE-Selecti | ENST00000380953.6; ENSP00000370340.1; NM_001190737.2; NP_001177666.1 [O00712-5] |
UCSCi | uc003zld.4, human [O00712-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U85193 mRNA Translation: AAB41899.1 U70862 mRNA Translation: AAB51197.1 BT007266 mRNA Translation: AAP35930.1 AK131233 mRNA Translation: BAD18416.1 BX648416 mRNA Translation: CAH56156.1 BX648845 mRNA No translation available. AL136366 Genomic DNA No translation available. AL441963 Genomic DNA No translation available. AL137017 Genomic DNA No translation available. AL449443 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58697.1 CH471071 Genomic DNA Translation: EAW58699.1 BC001283 mRNA Translation: AAH01283.1 U07810 mRNA Translation: AAA93125.1 |
CCDSi | CCDS55291.1 [O00712-5] CCDS6474.1 [O00712-1] CCDS65007.1 [O00712-6] |
RefSeqi | NP_001177666.1, NM_001190737.1 [O00712-5] NP_001177667.1, NM_001190738.1 NP_001269716.1, NM_001282787.1 [O00712-6] NP_005587.2, NM_005596.3 [O00712-1] |
3D structure databases
AlphaFoldDBi | O00712 |
SMRi | O00712 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110853, 30 interactors |
DIPi | DIP-61433N |
IntActi | O00712, 119 interactors |
STRINGi | 9606.ENSP00000370340 |
PTM databases
GlyGeni | O00712, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | O00712 |
PhosphoSitePlusi | O00712 |
Genetic variation databases
BioMutai | NFIB |
Proteomic databases
EPDi | O00712 |
jPOSTi | O00712 |
MassIVEi | O00712 |
MaxQBi | O00712 |
PaxDbi | O00712 |
PeptideAtlasi | O00712 |
PRIDEi | O00712 |
ProteomicsDBi | 32394 43594 48006 [O00712-1] 48007 [O00712-2] 65511 |
Protocols and materials databases
Antibodypediai | 1309, 218 antibodies from 30 providers |
DNASUi | 4781 |
Genome annotation databases
Ensembli | ENST00000380953.6; ENSP00000370340.1; ENSG00000147862.18 [O00712-5] ENST00000380959.7; ENSP00000370346.3; ENSG00000147862.18 ENST00000543693.5; ENSP00000442888.1; ENSG00000147862.18 [O00712-6] |
GeneIDi | 4781 |
KEGGi | hsa:4781 |
MANE-Selecti | ENST00000380953.6; ENSP00000370340.1; NM_001190737.2; NP_001177666.1 [O00712-5] |
UCSCi | uc003zld.4, human [O00712-1] |
Organism-specific databases
CTDi | 4781 |
DisGeNETi | 4781 |
GeneCardsi | NFIB |
HGNCi | HGNC:7785, NFIB |
HPAi | ENSG00000147862, Low tissue specificity |
MalaCardsi | NFIB |
MIMi | 600728, gene 618286, phenotype |
neXtProti | NX_O00712 |
OpenTargetsi | ENSG00000147862 |
PharmGKBi | PA31591 |
VEuPathDBi | HostDB:ENSG00000147862 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3663, Eukaryota |
GeneTreei | ENSGT00950000182916 |
HOGENOMi | CLU_061490_0_0_1 |
InParanoidi | O00712 |
PhylomeDBi | O00712 |
TreeFami | TF313889 |
Enzyme and pathway databases
PathwayCommonsi | O00712 |
Reactomei | R-HSA-73980, RNA Polymerase III Transcription Termination R-HSA-749476, RNA Polymerase III Abortive And Retractive Initiation |
SignaLinki | O00712 |
SIGNORi | O00712 |
Miscellaneous databases
BioGRID-ORCSi | 4781, 25 hits in 1093 CRISPR screens |
ChiTaRSi | NFIB, human |
GeneWikii | NFIB_(gene) |
GenomeRNAii | 4781 |
Pharosi | O00712, Tbio |
PROi | PR:O00712 |
RNActi | O00712, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000147862, Expressed in cerebral cortex and 260 other tissues |
ExpressionAtlasi | O00712, baseline and differential |
Genevisiblei | O00712, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000647, CTF/NFI IPR020604, CTF/NFI_DNA-bd-dom IPR019739, CTF/NFI_DNA-bd_CS IPR019548, CTF/NFI_DNA-bd_N IPR003619, MAD_homology1_Dwarfin-type |
PANTHERi | PTHR11492, PTHR11492, 1 hit |
Pfami | View protein in Pfam PF00859, CTF_NFI, 1 hit PF03165, MH1, 1 hit PF10524, NfI_DNAbd_pre-N, 1 hit |
SMARTi | View protein in SMART SM00523, DWA, 1 hit |
PROSITEi | View protein in PROSITE PS00349, CTF_NFI_1, 1 hit PS51080, CTF_NFI_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | NFIB_HUMAN | |
Accessioni | O00712Primary (citable) accession number: O00712 Secondary accession number(s): G3V1P1 Q96J45 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 2001 |
Last sequence update: | March 15, 2004 | |
Last modified: | May 25, 2022 | |
This is version 189 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 9
Human chromosome 9: 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