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Protein

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

Gene

MKKS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi192 – 199ATPSequence analysis8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • RNA polymerase II repressing transcription factor binding Source: MGI
  • unfolded protein binding Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionChaperone
Biological processSensory transduction, Vision
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125863-MONOMER.
ReactomeiR-HSA-5620922. BBSome-mediated cargo-targeting to cilium.

Names & Taxonomyi

Protein namesi
Recommended name:
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Alternative name(s):
Bardet-Biedl syndrome 6 protein
Gene namesi
Name:MKKS
Synonyms:BBS6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:7108. MKKS.

Subcellular locationi

  • Cytoplasmcytoskeletonmicrotubule organizing centercentrosome
  • Cytoplasmcytosol

  • Note: The majority of the protein resides within the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, the protein is confined to the lateral surfaces of the PCM but during mitosis it relocalizes throughout the PCM and is found at the intercellular bridge. The MKSS protein is highly mobile and rapidly shuttles between the cytosol and centrosome.

GO - Cellular componenti

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

McKusick-Kaufman syndrome (MKKS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive developmental disorder. It is characterized by hydrometrocolpos, postaxial polydactyly and congenital heart defects.
See also OMIM:236700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00986437Y → C in MKKS and BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; the mutant is immobilized at the centrosome even in the absence of proteasome inhibition; the mutant is also highly polyubiquitinated. Corresponds to variant dbSNP:rs743153965 PublicationsEnsembl.1
Natural variantiVAR_00988357T → A in BBS6; found in a patient also carrying A-155 in TMEM237; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Y-84 mutant; greatly reduces the ability to interact with BBS12. Corresponds to variant dbSNP:rs743153995 PublicationsEnsembl.1
Natural variantiVAR_00986684H → Y in MKKS; associated with S-242; decreased interaction with BBS12. Corresponds to variant dbSNP:rs743153952 PublicationsEnsembl.1
Natural variantiVAR_017040155R → L in BBS6; increases MKKS protein degradation; localizes properly to the centrosome. Corresponds to variant dbSNP:rs1381114222 PublicationsEnsembl.1
Natural variantiVAR_009867242A → S in MKKS and BBS6; associated with Y-84 in MKKS; unknown pathological significance; increases MKKS protein degradation. Corresponds to variant dbSNP:rs743153947 PublicationsEnsembl.1
Natural variantiVAR_017042345G → E in BBS6; increases MKKS protein degradation; fails to associate with centrosome; the mutant is highly polyubiquitinated and rapidly degraded by the ubiquitin-proteasome protein degradation pathway. Corresponds to variant dbSNP:rs7791168303 PublicationsEnsembl.1
Natural variantiVAR_013161499C → S in BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; localizes properly to the centrosome. Corresponds to variant dbSNP:rs743154004 PublicationsEnsembl.1
Bardet-Biedl syndrome 6 (BBS6)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
See also OMIM:605231
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01703532I → M in BBS6. 1 Publication1
Natural variantiVAR_00986437Y → C in MKKS and BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; the mutant is immobilized at the centrosome even in the absence of proteasome inhibition; the mutant is also highly polyubiquitinated. Corresponds to variant dbSNP:rs743153965 PublicationsEnsembl.1
Natural variantiVAR_06626241G → R in BBS6. Corresponds to variant dbSNP:rs7661326971 PublicationEnsembl.1
Natural variantiVAR_00988252G → D in BBS6; fails to associate with centrosome. Corresponds to variant dbSNP:rs289378753 PublicationsEnsembl.1
Natural variantiVAR_00988357T → A in BBS6; found in a patient also carrying A-155 in TMEM237; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Y-84 mutant; greatly reduces the ability to interact with BBS12. Corresponds to variant dbSNP:rs743153995 PublicationsEnsembl.1
Natural variantiVAR_06626399C → R in BBS6. 1 Publication1
Natural variantiVAR_017040155R → L in BBS6; increases MKKS protein degradation; localizes properly to the centrosome. Corresponds to variant dbSNP:rs1381114222 PublicationsEnsembl.1
Natural variantiVAR_038898181A → P in BBS6. 1 Publication1
Natural variantiVAR_017036236S → P in BBS6. 3 Publications1
Natural variantiVAR_038899237T → A in BBS6. Corresponds to variant dbSNP:rs7601856771 PublicationEnsembl.1
Natural variantiVAR_038900237T → P in BBS6. 2 Publications1
Natural variantiVAR_009867242A → S in MKKS and BBS6; associated with Y-84 in MKKS; unknown pathological significance; increases MKKS protein degradation. Corresponds to variant dbSNP:rs743153947 PublicationsEnsembl.1
Natural variantiVAR_009884277L → P in BBS6; moderately affects interaction with BBS2; greatly reduces the ability to interact with BBS12. Corresponds to variant dbSNP:rs743153982 PublicationsEnsembl.1
Natural variantiVAR_017037286D → A in BBS6; fails to associate with centrosome. 2 Publications1
Natural variantiVAR_066264299P → L in BBS6. Corresponds to variant dbSNP:rs7560830631 PublicationEnsembl.1
Natural variantiVAR_017041339I → V in BBS6. Corresponds to variant dbSNP:rs1378539093 PublicationsEnsembl.1
Natural variantiVAR_017042345G → E in BBS6; increases MKKS protein degradation; fails to associate with centrosome; the mutant is highly polyubiquitinated and rapidly degraded by the ubiquitin-proteasome protein degradation pathway. Corresponds to variant dbSNP:rs7791168303 PublicationsEnsembl.1
Natural variantiVAR_077208395H → R in BBS6; atypical mild phenotype consisting of retinitis pigmentosa and polydactyly without other signs of Bardet-Biedl syndrome; results in decreased interaction with BBS12. 1 Publication1
Natural variantiVAR_038902460S → P in BBS6. 1 Publication1
Natural variantiVAR_038903492D → N in BBS6. Corresponds to variant dbSNP:rs1423272581 PublicationEnsembl.1
Natural variantiVAR_013161499C → S in BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; localizes properly to the centrosome. Corresponds to variant dbSNP:rs743154004 PublicationsEnsembl.1
Natural variantiVAR_017038511S → A in BBS6. 1 Publication1
Natural variantiVAR_017039518R → H in BBS6. Corresponds to variant dbSNP:rs1490511481 PublicationEnsembl.1

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

Organism-specific databases

DisGeNETi8195.
MalaCardsiMKKS.
MIMi236700. phenotype.
605231. phenotype.
OpenTargetsiENSG00000125863.
Orphaneti110. Bardet-Biedl syndrome.
2473. McKusick-Kaufman syndrome.
PharmGKBiPA30826.

Polymorphism and mutation databases

BioMutaiMKKS.
DMDMi11133565.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001284151 – 570McKusick-Kaufman/Bardet-Biedl syndromes putative chaperoninAdd BLAST570

Proteomic databases

EPDiQ9NPJ1.
PaxDbiQ9NPJ1.
PeptideAtlasiQ9NPJ1.
PRIDEiQ9NPJ1.

PTM databases

iPTMnetiQ9NPJ1.
PhosphoSitePlusiQ9NPJ1.

Expressioni

Tissue specificityi

Widely expressed in adult and fetal tissues.

Gene expression databases

BgeeiENSG00000125863.
CleanExiHS_MKKS.
ExpressionAtlasiQ9NPJ1. baseline and differential.
GenevisibleiQ9NPJ1. HS.

Organism-specific databases

HPAiHPA041071.
HPA044233.

Interactioni

Subunit structurei

Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8. Interacts with STUB1. Interacts with BBS2 (via coiled coil domain). Interacts with CCDC28B. Interacts with BBS12 (PubMed:26900326).4 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • RNA polymerase II repressing transcription factor binding Source: MGI
  • unfolded protein binding Source: ProtInc

Protein-protein interaction databases

BioGridi113837. 11 interactors.
DIPiDIP-60349N.
IntActiQ9NPJ1. 13 interactors.
MINTiMINT-1429008.
STRINGi9606.ENSP00000246062.

Structurei

3D structure databases

ProteinModelPortaliQ9NPJ1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni198 – 370Substrate-binding apical domainAdd BLAST173

Domaini

The substrate-binding apical domain region is sufficient for centrosomal association.

Sequence similaritiesi

Belongs to the TCP-1 chaperonin family.Curated

Phylogenomic databases

eggNOGiKOG0360. Eukaryota.
COG0459. LUCA.
GeneTreeiENSGT00390000007214.
HOGENOMiHOG000013131.
HOVERGENiHBG005055.
InParanoidiQ9NPJ1.
KOiK09492.
OMAiTSKPACM.
OrthoDBiEOG091G0VW9.
PhylomeDBiQ9NPJ1.
TreeFamiTF329106.

Family and domain databases

Gene3Di1.10.560.10. 3 hits.
3.50.7.10. 1 hit.
InterProiIPR002423. Cpn60/TCP-1.
IPR027409. GroEL-like_apical_dom.
IPR027413. GROEL-like_equatorial.
IPR028790. MKKS.
[Graphical view]
PANTHERiPTHR11353:SF77. PTHR11353:SF77. 2 hits.
PfamiPF00118. Cpn60_TCP1. 1 hit.
[Graphical view]
SUPFAMiSSF52029. SSF52029. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9NPJ1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSRLEAKKPS LCKSEPLTTE RVRTTLSVLK RIVTSCYGPS GRLKQLHNGF
60 70 80 90 100
GGYVCTTSQS SALLSHLLVT HPILKILTAS IQNHVSSFSD CGLFTAILCC
110 120 130 140 150
NLIENVQRLG LTPTTVIRLN KHLLSLCISY LKSETCGCRI PVDFSSTQIL
160 170 180 190 200
LCLVRSILTS KPACMLTRKE TEHVSALILR AFLLTIPENA EGHIILGKSL
210 220 230 240 250
IVPLKGQRVI DSTVLPGILI EMSEVQLMRL LPIKKSTALK VALFCTTLSG
260 270 280 290 300
DTSDTGEGTV VVSYGVSLEN AVLDQLLNLG RQLISDHVDL VLCQKVIHPS
310 320 330 340 350
LKQFLNMHRI IAIDRIGVTL MEPLTKMTGT QPIGSLGSIC PNSYGSVKDV
360 370 380 390 400
CTAKFGSKHF FHLIPNEATI CSLLLCNRND TAWDELKLTC QTALHVLQLT
410 420 430 440 450
LKEPWALLGG GCTETHLAAY IRHKTHNDPE SILKDDECTQ TELQLIAEAF
460 470 480 490 500
CSALESVVGS LEHDGGEILT DMKYGHLWSV QADSPCVANW PDLLSQCGCG
510 520 530 540 550
LYNSQEELNW SFLRSTRRPF VPQSCLPHEA VGSASNLTLD CLTAKLSGLQ
560 570
VAVETANLIL DLSYVIEDKN
Length:570
Mass (Da):62,342
Last modified:October 1, 2000 - v1
Checksum:i14BA57FF8AEA0AF7
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01703532I → M in BBS6. 1 Publication1
Natural variantiVAR_00986437Y → C in MKKS and BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; the mutant is immobilized at the centrosome even in the absence of proteasome inhibition; the mutant is also highly polyubiquitinated. Corresponds to variant dbSNP:rs743153965 PublicationsEnsembl.1
Natural variantiVAR_06626241G → R in BBS6. Corresponds to variant dbSNP:rs7661326971 PublicationEnsembl.1
Natural variantiVAR_00986549G → V. Corresponds to variant dbSNP:rs5288334541 PublicationEnsembl.1
Natural variantiVAR_00988252G → D in BBS6; fails to associate with centrosome. Corresponds to variant dbSNP:rs289378753 PublicationsEnsembl.1
Natural variantiVAR_00988357T → A in BBS6; found in a patient also carrying A-155 in TMEM237; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Y-84 mutant; greatly reduces the ability to interact with BBS12. Corresponds to variant dbSNP:rs743153995 PublicationsEnsembl.1
Natural variantiVAR_00986684H → Y in MKKS; associated with S-242; decreased interaction with BBS12. Corresponds to variant dbSNP:rs743153952 PublicationsEnsembl.1
Natural variantiVAR_06626399C → R in BBS6. 1 Publication1
Natural variantiVAR_017040155R → L in BBS6; increases MKKS protein degradation; localizes properly to the centrosome. Corresponds to variant dbSNP:rs1381114222 PublicationsEnsembl.1
Natural variantiVAR_038898181A → P in BBS6. 1 Publication1
Natural variantiVAR_017036236S → P in BBS6. 3 Publications1
Natural variantiVAR_038899237T → A in BBS6. Corresponds to variant dbSNP:rs7601856771 PublicationEnsembl.1
Natural variantiVAR_038900237T → P in BBS6. 2 Publications1
Natural variantiVAR_009867242A → S in MKKS and BBS6; associated with Y-84 in MKKS; unknown pathological significance; increases MKKS protein degradation. Corresponds to variant dbSNP:rs743153947 PublicationsEnsembl.1
Natural variantiVAR_009884277L → P in BBS6; moderately affects interaction with BBS2; greatly reduces the ability to interact with BBS12. Corresponds to variant dbSNP:rs743153982 PublicationsEnsembl.1
Natural variantiVAR_017037286D → A in BBS6; fails to associate with centrosome. 2 Publications1
Natural variantiVAR_066264299P → L in BBS6. Corresponds to variant dbSNP:rs7560830631 PublicationEnsembl.1
Natural variantiVAR_038901325T → P Has a modifier effect on BBS; causes a mislocalization of the protein; fails to associate with centrosome. Corresponds to variant dbSNP:rs1378531563 PublicationsEnsembl.1
Natural variantiVAR_017041339I → V in BBS6. Corresponds to variant dbSNP:rs1378539093 PublicationsEnsembl.1
Natural variantiVAR_017042345G → E in BBS6; increases MKKS protein degradation; fails to associate with centrosome; the mutant is highly polyubiquitinated and rapidly degraded by the ubiquitin-proteasome protein degradation pathway. Corresponds to variant dbSNP:rs7791168303 PublicationsEnsembl.1
Natural variantiVAR_077208395H → R in BBS6; atypical mild phenotype consisting of retinitis pigmentosa and polydactyly without other signs of Bardet-Biedl syndrome; results in decreased interaction with BBS12. 1 Publication1
Natural variantiVAR_038902460S → P in BBS6. 1 Publication1
Natural variantiVAR_066265488A → T in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS12; uncertain pathological role. Corresponds to variant dbSNP:rs617345461 PublicationEnsembl.1
Natural variantiVAR_038903492D → N in BBS6. Corresponds to variant dbSNP:rs1423272581 PublicationEnsembl.1
Natural variantiVAR_013161499C → S in BBS6; causes both increased MKKS protein degradation and reduced solubility relative to wild-type and Tyr-84 mutant; localizes properly to the centrosome. Corresponds to variant dbSNP:rs743154004 PublicationsEnsembl.1
Natural variantiVAR_017038511S → A in BBS6. 1 Publication1
Natural variantiVAR_009868517R → C. Corresponds to variant dbSNP:rs15474 PublicationsEnsembl.1
Natural variantiVAR_017039518R → H in BBS6. Corresponds to variant dbSNP:rs1490511481 PublicationEnsembl.1
Natural variantiVAR_009869532G → V. Corresponds to variant dbSNP:rs15453 PublicationsEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF221992 mRNA. Translation: AAF73872.1.
AF221993 mRNA. Translation: AAF73873.1.
AK291925 mRNA. Translation: BAF84614.1.
AL157427 mRNA. Translation: CAB75652.1.
AL034430 Genomic DNA. Translation: CAC16847.1.
CH471133 Genomic DNA. Translation: EAX10344.1.
CH471133 Genomic DNA. Translation: EAX10345.1.
CCDSiCCDS13111.1.
PIRiT46911.
RefSeqiNP_061336.1. NM_018848.3.
NP_740754.1. NM_170784.2.
UniGeneiHs.472119.
Hs.741430.

Genome annotation databases

EnsembliENST00000347364; ENSP00000246062; ENSG00000125863.
ENST00000399054; ENSP00000382008; ENSG00000125863.
GeneIDi8195.
KEGGihsa:8195.
UCSCiuc002wnt.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the MKKS gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF221992 mRNA. Translation: AAF73872.1.
AF221993 mRNA. Translation: AAF73873.1.
AK291925 mRNA. Translation: BAF84614.1.
AL157427 mRNA. Translation: CAB75652.1.
AL034430 Genomic DNA. Translation: CAC16847.1.
CH471133 Genomic DNA. Translation: EAX10344.1.
CH471133 Genomic DNA. Translation: EAX10345.1.
CCDSiCCDS13111.1.
PIRiT46911.
RefSeqiNP_061336.1. NM_018848.3.
NP_740754.1. NM_170784.2.
UniGeneiHs.472119.
Hs.741430.

3D structure databases

ProteinModelPortaliQ9NPJ1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113837. 11 interactors.
DIPiDIP-60349N.
IntActiQ9NPJ1. 13 interactors.
MINTiMINT-1429008.
STRINGi9606.ENSP00000246062.

PTM databases

iPTMnetiQ9NPJ1.
PhosphoSitePlusiQ9NPJ1.

Polymorphism and mutation databases

BioMutaiMKKS.
DMDMi11133565.

Proteomic databases

EPDiQ9NPJ1.
PaxDbiQ9NPJ1.
PeptideAtlasiQ9NPJ1.
PRIDEiQ9NPJ1.

Protocols and materials databases

DNASUi8195.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000347364; ENSP00000246062; ENSG00000125863.
ENST00000399054; ENSP00000382008; ENSG00000125863.
GeneIDi8195.
KEGGihsa:8195.
UCSCiuc002wnt.3. human.

Organism-specific databases

CTDi8195.
DisGeNETi8195.
GeneCardsiMKKS.
GeneReviewsiMKKS.
HGNCiHGNC:7108. MKKS.
HPAiHPA041071.
HPA044233.
MalaCardsiMKKS.
MIMi236700. phenotype.
604896. gene.
605231. phenotype.
neXtProtiNX_Q9NPJ1.
OpenTargetsiENSG00000125863.
Orphaneti110. Bardet-Biedl syndrome.
2473. McKusick-Kaufman syndrome.
PharmGKBiPA30826.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0360. Eukaryota.
COG0459. LUCA.
GeneTreeiENSGT00390000007214.
HOGENOMiHOG000013131.
HOVERGENiHBG005055.
InParanoidiQ9NPJ1.
KOiK09492.
OMAiTSKPACM.
OrthoDBiEOG091G0VW9.
PhylomeDBiQ9NPJ1.
TreeFamiTF329106.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125863-MONOMER.
ReactomeiR-HSA-5620922. BBSome-mediated cargo-targeting to cilium.

Miscellaneous databases

ChiTaRSiMKKS. human.
GeneWikiiMKKS.
GenomeRNAii8195.
PROiQ9NPJ1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125863.
CleanExiHS_MKKS.
ExpressionAtlasiQ9NPJ1. baseline and differential.
GenevisibleiQ9NPJ1. HS.

Family and domain databases

Gene3Di1.10.560.10. 3 hits.
3.50.7.10. 1 hit.
InterProiIPR002423. Cpn60/TCP-1.
IPR027409. GroEL-like_apical_dom.
IPR027413. GROEL-like_equatorial.
IPR028790. MKKS.
[Graphical view]
PANTHERiPTHR11353:SF77. PTHR11353:SF77. 2 hits.
PfamiPF00118. Cpn60_TCP1. 1 hit.
[Graphical view]
SUPFAMiSSF52029. SSF52029. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiMKKS_HUMAN
AccessioniPrimary (citable) accession number: Q9NPJ1
Secondary accession number(s): A8K7B0, D3DW18
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: October 1, 2000
Last modified: January 18, 2017
This is version 152 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.