UniProtKB - Q9H078 (CLPB_HUMAN)
Caseinolytic peptidase B protein homolog
CLPB
Functioni
May function as a regulatory ATPase and be related to secretion/protein trafficking process. Involved in mitochondrial-mediated antiviral innate immunity, activates RIG-I-mediated signal transduction and production of IFNB1 and proinflammatory cytokine IL6 (PubMed:31522117).
1 PublicationCatalytic activityi
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 381 – 388 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- ATP hydrolysis activity Source: GO_Central
GO - Biological processi
- antiviral innate immune response Source: UniProtKB
- cellular response to heat Source: UniProtKB
- RIG-I signaling pathway Source: UniProtKB
Keywordsi
Molecular function | Hydrolase |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q9H078 |
SignaLinki | Q9H078 |
Names & Taxonomyi
Protein namesi | Recommended name: Caseinolytic peptidase B protein homolog (EC:3.6.1.-1 Publication)Alternative name(s): Suppressor of potassium transport defect 3 |
Gene namesi | Name:CLPB Synonyms:HSP78, SKD3 |
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:30664, CLPB |
MIMi | 616254, gene |
neXtProti | NX_Q9H078 |
VEuPathDBi | HostDB:ENSG00000162129 |
Subcellular locationi
Mitochondrion
- Mitochondrion intermembrane space 2 Publications
Mitochondrion
- mitochondrial intermembrane space Source: UniProtKB
- mitochondrion Source: GO_Central
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
3-methylglutaconic aciduria 7 (MGCA7)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073397 | 268 | T → M in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs200032855Ensembl. | 1 | |
Natural variantiVAR_073398 | 272 | Y → C in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs777313457Ensembl. | 1 | |
Natural variantiVAR_073399 | 408 | R → G in MGCA7; reduced ATPase activity in vitro. 1 PublicationCorresponds to variant dbSNP:rs144078282Ensembl. | 1 | |
Natural variantiVAR_073400 | 411 | M → I in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs786205137Ensembl. | 1 | |
Natural variantiVAR_073401 | 435 – 436 | EG → DP in MGCA7. 1 Publication | 2 | |
Natural variantiVAR_073402 | 486 | C → R in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs886041118Ensembl. | 1 | |
Natural variantiVAR_073403 | 501 | E → K in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs748915609Ensembl. | 1 | |
Natural variantiVAR_073404 | 567 | Y → C in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs150857620Ensembl. | 1 | |
Natural variantiVAR_073405 | 591 | A → V in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs748010262Ensembl. | 1 | |
Natural variantiVAR_073406 | 617 | Y → C in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs786205138Ensembl. | 1 | |
Natural variantiVAR_073407 | 646 | G → V in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs759500860Ensembl. | 1 | |
Natural variantiVAR_073408 | 682 | I → N in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs886041120Ensembl. | 1 |
Keywords - Diseasei
Cataract, Disease variant, EpilepsyOrganism-specific databases
DisGeNETi | 81570 |
GeneReviewsi | CLPB |
MalaCardsi | CLPB |
MIMi | 616271, phenotype |
OpenTargetsi | ENSG00000162129 |
Orphaneti | 445038, 3-methylglutaconic aciduria type 7 |
PharmGKBi | PA142672092 |
Miscellaneous databases
Pharosi | Q9H078, Tbio |
Genetic variation databases
BioMutai | CLPB |
DMDMi | 25009267 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 36 | MitochondrionSequence analysisAdd BLAST | 36 | |
ChainiPRO_0000191239 | 37 – 707 | Caseinolytic peptidase B protein homologAdd BLAST | 671 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 589 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q9H078 |
jPOSTi | Q9H078 |
MassIVEi | Q9H078 |
MaxQBi | Q9H078 |
PaxDbi | Q9H078 |
PeptideAtlasi | Q9H078 |
PRIDEi | Q9H078 |
ProteomicsDBi | 18882 29984 5473 80212 [Q9H078-1] 80213 [Q9H078-2] |
PTM databases
GlyGeni | Q9H078, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9H078 |
MetOSitei | Q9H078 |
PhosphoSitePlusi | Q9H078 |
SwissPalmi | Q9H078 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000162129, Expressed in right testis and 183 other tissues |
ExpressionAtlasi | Q9H078, baseline and differential |
Genevisiblei | Q9H078, HS |
Organism-specific databases
HPAi | ENSG00000162129, Tissue enriched (testis) |
Interactioni
Subunit structurei
Binary interactionsi
Q9H078
With | #Exp. | IntAct |
---|---|---|
CEP70 [Q8NHQ1] | 3 | EBI-2107221,EBI-739624 |
Protein-protein interaction databases
BioGRIDi | 123531, 172 interactors |
IntActi | Q9H078, 74 interactors |
MINTi | Q9H078 |
STRINGi | 9606.ENSP00000294053 |
Miscellaneous databases
RNActi | Q9H078, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 133 – 162 | ANK 1Add BLAST | 30 | |
Repeati | 166 – 195 | ANK 2Add BLAST | 30 | |
Repeati | 265 – 295 | ANK 3Add BLAST | 31 | |
Repeati | 298 – 327 | ANK 4Add BLAST | 30 |
Sequence similaritiesi
Keywords - Domaini
ANK repeat, Repeat, Transit peptidePhylogenomic databases
eggNOGi | KOG1051, Eukaryota |
GeneTreei | ENSGT00390000012961 |
HOGENOMi | CLU_005070_9_3_1 |
InParanoidi | Q9H078 |
OMAi | CKNAIFI |
PhylomeDBi | Q9H078 |
TreeFami | TF328654 |
Family and domain databases
Gene3Di | 1.25.40.20, 2 hits 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR002110, Ankyrin_rpt IPR036770, Ankyrin_rpt-contain_sf IPR003959, ATPase_AAA_core IPR019489, Clp_ATPase_C IPR001270, ClpA/B IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF07724, AAA_2, 1 hit PF12796, Ank_2, 1 hit PF13857, Ank_5, 1 hit PF10431, ClpB_D2-small, 1 hit |
PRINTSi | PR00300, CLPPROTEASEA |
SMARTi | View protein in SMART SM00382, AAA, 1 hit SM00248, ANK, 3 hits SM01086, ClpB_D2-small, 1 hit |
SUPFAMi | SSF48403, SSF48403, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 3 hits |
s (5+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 11 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
MLGSLVLRRK ALAPRLLLRL LRSPTLRGHG GASGRNVTTG SLGEPQWLRV
60 70 80 90 100
ATGGRPGTSP ALFSGRGAAT GGRQGGRFDT KCLAAATWGR LPGPEETLPG
110 120 130 140 150
QDSWNGVPSR AGLGMCALAA ALVVHCYSKS PSNKDAALLE AARANNMQEV
160 170 180 190 200
SRLLSEGADV NAKHRLGWTA LMVAAINRNN SVVQVLLAAG ADPNLGDDFS
210 220 230 240 250
SVYKTAKEQG IHSLEDGGQD GASRHITNQW TSALEFRRWL GLPAGVLITR
260 270 280 290 300
EDDFNNRLNN RASFKGCTAL HYAVLADDYR TVKELLDGGA NPLQRNEMGH
310 320 330 340 350
TPLDYAREGE VMKLLRTSEA KYQEKQRKRE AEERRRFPLE QRLKEHIIGQ
360 370 380 390 400
ESAIATVGAA IRRKENGWYD EEHPLVFLFL GSSGIGKTEL AKQTAKYMHK
410 420 430 440 450
DAKKGFIRLD MSEFQERHEV AKFIGSPPGY VGHEEGGQLT KKLKQCPNAV
460 470 480 490 500
VLFDEVDKAH PDVLTIMLQL FDEGRLTDGK GKTIDCKDAI FIMTSNVASD
510 520 530 540 550
EIAQHALQLR QEALEMSRNR IAENLGDVQI SDKITISKNF KENVIRPILK
560 570 580 590 600
AHFRRDEFLG RINEIVYFLP FCHSELIQLV NKELNFWAKR AKQRHNITLL
610 620 630 640 650
WDREVADVLV DGYNVHYGAR SIKHEVERRV VNQLAAAYEQ DLLPGGCTLR
660 670 680 690 700
ITVEDSDKQL LKSPELPSPQ AEKRLPKLRL EIIDKDSKTR RLDIRAPLHP
EKVCNTI
Computationally mapped potential isoform sequencesi
There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YGM0 | H0YGM0_HUMAN | Caseinolytic peptidase B protein ho... | CLPB | 712 | Annotation score: | ||
A0A2R8Y602 | A0A2R8Y602_HUMAN | Caseinolytic peptidase B protein ho... | CLPB | 382 | Annotation score: | ||
A0A2U3TZY2 | A0A2U3TZY2_HUMAN | Caseinolytic peptidase B protein ho... | CLPB | 692 | Annotation score: | ||
A0A2R8YDH5 | A0A2R8YDH5_HUMAN | Caseinolytic peptidase B protein ho... | CLPB | 141 | Annotation score: | ||
F6SS08 | F6SS08_HUMAN | Caseinolytic peptidase B protein ho... | CLPB | 75 | Annotation score: | ||
F5H392 | F5H392_HUMAN | Caseinolytic peptidase B protein ho... | CLPB | 149 | Annotation score: | ||
F5H7A5 | F5H7A5_HUMAN | Caseinolytic peptidase B protein ho... | CLPB | 152 | Annotation score: | ||
A0A2R8Y6R5 | A0A2R8Y6R5_HUMAN | Caseinolytic peptidase B protein ho... | CLPB | 327 | Annotation score: | ||
F5GX99 | F5GX99_HUMAN | Caseinolytic peptidase B protein ho... | CLPB | 149 | Annotation score: | ||
H0YG50 | H0YG50_HUMAN | Caseinolytic peptidase B protein ho... | CLPB | 44 | Annotation score: | ||
There is more potential isoformShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 413 | E → K in BAG63459 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 563 | N → S in BAG63409 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 650 | R → C in BAG63459 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073397 | 268 | T → M in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs200032855Ensembl. | 1 | |
Natural variantiVAR_073398 | 272 | Y → C in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs777313457Ensembl. | 1 | |
Natural variantiVAR_048740 | 295 | R → T. Corresponds to variant dbSNP:rs7938203Ensembl. | 1 | |
Natural variantiVAR_073399 | 408 | R → G in MGCA7; reduced ATPase activity in vitro. 1 PublicationCorresponds to variant dbSNP:rs144078282Ensembl. | 1 | |
Natural variantiVAR_073400 | 411 | M → I in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs786205137Ensembl. | 1 | |
Natural variantiVAR_073401 | 435 – 436 | EG → DP in MGCA7. 1 Publication | 2 | |
Natural variantiVAR_073402 | 486 | C → R in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs886041118Ensembl. | 1 | |
Natural variantiVAR_073403 | 501 | E → K in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs748915609Ensembl. | 1 | |
Natural variantiVAR_073404 | 567 | Y → C in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs150857620Ensembl. | 1 | |
Natural variantiVAR_073405 | 591 | A → V in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs748010262Ensembl. | 1 | |
Natural variantiVAR_073406 | 617 | Y → C in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs786205138Ensembl. | 1 | |
Natural variantiVAR_073407 | 646 | G → V in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs759500860Ensembl. | 1 | |
Natural variantiVAR_073408 | 682 | I → N in MGCA7. 1 PublicationCorresponds to variant dbSNP:rs886041120Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_057397 | 1 – 171 | Missing in isoform 5. 1 PublicationAdd BLAST | 171 | |
Alternative sequenceiVSP_044725 | 1 – 151 | MLGSL…MQEVS → MPRGCHLGTPSWSRRNTPRT GQLERGPQQGRTGHVRPGRS AGGSLLQQESVQQGCSPVGS CPCQQYARSQQPQETAKNDA QSRSWAGLNAGVSLKNTKIS SSEWPL in isoform 4. 1 PublicationAdd BLAST | 151 | |
Alternative sequenceiVSP_044726 | 152 – 180 | Missing in isoform 3. 1 PublicationAdd BLAST | 29 | |
Alternative sequenceiVSP_001106 | 216 – 245 | Missing in isoform 2, isoform 3 and isoform 5. 1 PublicationAdd BLAST | 30 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL136909 mRNA Translation: CAB66843.1 AL834484 mRNA Translation: CAD39142.1 AK023214 mRNA Translation: BAB14467.1 AK302006 mRNA Translation: BAG63409.1 AK302069 mRNA Translation: BAG63459.1 AK302158 mRNA Translation: BAG63526.1 AP000593 Genomic DNA No translation available. AP002892 Genomic DNA No translation available. AP003785 Genomic DNA No translation available. BC006404 mRNA Translation: AAH06404.1 |
CCDSi | CCDS58152.1 [Q9H078-4] CCDS58153.1 [Q9H078-3] CCDS58154.1 [Q9H078-2] CCDS8215.1 [Q9H078-1] |
RefSeqi | NP_001245321.1, NM_001258392.2 [Q9H078-2] NP_001245322.1, NM_001258393.2 [Q9H078-3] NP_001245323.1, NM_001258394.2 [Q9H078-4] NP_110440.1, NM_030813.5 [Q9H078-1] |
Genome annotation databases
Ensembli | ENST00000294053; ENSP00000294053; ENSG00000162129 ENST00000340729; ENSP00000340385; ENSG00000162129 [Q9H078-3] ENST00000437826; ENSP00000407296; ENSG00000162129 [Q9H078-4] ENST00000538039; ENSP00000441518; ENSG00000162129 [Q9H078-2] |
GeneIDi | 81570 |
KEGGi | hsa:81570 |
MANE-Selecti | ENST00000538039.6; ENSP00000441518.1; NM_001258392.3; NP_001245321.1 [Q9H078-2] |
UCSCi | uc001osj.5, human [Q9H078-1] uc010rqz.3, human |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL136909 mRNA Translation: CAB66843.1 AL834484 mRNA Translation: CAD39142.1 AK023214 mRNA Translation: BAB14467.1 AK302006 mRNA Translation: BAG63409.1 AK302069 mRNA Translation: BAG63459.1 AK302158 mRNA Translation: BAG63526.1 AP000593 Genomic DNA No translation available. AP002892 Genomic DNA No translation available. AP003785 Genomic DNA No translation available. BC006404 mRNA Translation: AAH06404.1 |
CCDSi | CCDS58152.1 [Q9H078-4] CCDS58153.1 [Q9H078-3] CCDS58154.1 [Q9H078-2] CCDS8215.1 [Q9H078-1] |
RefSeqi | NP_001245321.1, NM_001258392.2 [Q9H078-2] NP_001245322.1, NM_001258393.2 [Q9H078-3] NP_001245323.1, NM_001258394.2 [Q9H078-4] NP_110440.1, NM_030813.5 [Q9H078-1] |
3D structure databases
SMRi | Q9H078 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123531, 172 interactors |
IntActi | Q9H078, 74 interactors |
MINTi | Q9H078 |
STRINGi | 9606.ENSP00000294053 |
PTM databases
GlyGeni | Q9H078, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9H078 |
MetOSitei | Q9H078 |
PhosphoSitePlusi | Q9H078 |
SwissPalmi | Q9H078 |
Genetic variation databases
BioMutai | CLPB |
DMDMi | 25009267 |
Proteomic databases
EPDi | Q9H078 |
jPOSTi | Q9H078 |
MassIVEi | Q9H078 |
MaxQBi | Q9H078 |
PaxDbi | Q9H078 |
PeptideAtlasi | Q9H078 |
PRIDEi | Q9H078 |
ProteomicsDBi | 18882 29984 5473 80212 [Q9H078-1] 80213 [Q9H078-2] |
Protocols and materials databases
Antibodypediai | 30838, 196 antibodies from 27 providers |
DNASUi | 81570 |
Genome annotation databases
Ensembli | ENST00000294053; ENSP00000294053; ENSG00000162129 ENST00000340729; ENSP00000340385; ENSG00000162129 [Q9H078-3] ENST00000437826; ENSP00000407296; ENSG00000162129 [Q9H078-4] ENST00000538039; ENSP00000441518; ENSG00000162129 [Q9H078-2] |
GeneIDi | 81570 |
KEGGi | hsa:81570 |
MANE-Selecti | ENST00000538039.6; ENSP00000441518.1; NM_001258392.3; NP_001245321.1 [Q9H078-2] |
UCSCi | uc001osj.5, human [Q9H078-1] uc010rqz.3, human |
Organism-specific databases
CTDi | 81570 |
DisGeNETi | 81570 |
GeneCardsi | CLPB |
GeneReviewsi | CLPB |
HGNCi | HGNC:30664, CLPB |
HPAi | ENSG00000162129, Tissue enriched (testis) |
MalaCardsi | CLPB |
MIMi | 616254, gene 616271, phenotype |
neXtProti | NX_Q9H078 |
OpenTargetsi | ENSG00000162129 |
Orphaneti | 445038, 3-methylglutaconic aciduria type 7 |
PharmGKBi | PA142672092 |
VEuPathDBi | HostDB:ENSG00000162129 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1051, Eukaryota |
GeneTreei | ENSGT00390000012961 |
HOGENOMi | CLU_005070_9_3_1 |
InParanoidi | Q9H078 |
OMAi | CKNAIFI |
PhylomeDBi | Q9H078 |
TreeFami | TF328654 |
Enzyme and pathway databases
PathwayCommonsi | Q9H078 |
SignaLinki | Q9H078 |
Miscellaneous databases
BioGRID-ORCSi | 81570, 95 hits in 1045 CRISPR screens |
ChiTaRSi | CLPB, human |
GeneWikii | CLPB |
GenomeRNAii | 81570 |
Pharosi | Q9H078, Tbio |
PROi | PR:Q9H078 |
RNActi | Q9H078, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000162129, Expressed in right testis and 183 other tissues |
ExpressionAtlasi | Q9H078, baseline and differential |
Genevisiblei | Q9H078, HS |
Family and domain databases
Gene3Di | 1.25.40.20, 2 hits 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR002110, Ankyrin_rpt IPR036770, Ankyrin_rpt-contain_sf IPR003959, ATPase_AAA_core IPR019489, Clp_ATPase_C IPR001270, ClpA/B IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF07724, AAA_2, 1 hit PF12796, Ank_2, 1 hit PF13857, Ank_5, 1 hit PF10431, ClpB_D2-small, 1 hit |
PRINTSi | PR00300, CLPPROTEASEA |
SMARTi | View protein in SMART SM00382, AAA, 1 hit SM00248, ANK, 3 hits SM01086, ClpB_D2-small, 1 hit |
SUPFAMi | SSF48403, SSF48403, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS50297, ANK_REP_REGION, 1 hit PS50088, ANK_REPEAT, 3 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | CLPB_HUMAN | |
Accessioni | Q9H078Primary (citable) accession number: Q9H078 Secondary accession number(s): B4DXJ7 Q9H8Y0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 8, 2002 |
Last sequence update: | March 1, 2001 | |
Last modified: | February 23, 2022 | |
This is version 175 of the entry and version 1 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 11
Human chromosome 11: 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