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Protein

Paired box protein Pax-2

Gene

PAX2

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

Functioni

Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS.1 Publication

GO - Molecular functioni

  • core promoter proximal region sequence-specific DNA binding Source: UniProtKB
  • DNA binding Source: UniProtKB
  • superoxide-generating NADPH oxidase activity Source: UniProtKB
  • transcription factor binding Source: UniProtKB
  • transcription regulatory region DNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000075891-MONOMER.
SignaLinkiQ02962.
SIGNORiQ02962.

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-2
Gene namesi
Name:PAX2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:8616. PAX2.

Subcellular locationi

GO - Cellular componenti

  • centriolar satellite Source: BHF-UCL
  • Golgi apparatus Source: HPA
  • lysosome Source: Ensembl
  • microtubule organizing center Source: BHF-UCL
  • nucleolus Source: HPA
  • nucleus Source: UniProtKB
  • protein complex Source: UniProtKB
  • protein-DNA complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Papillorenal syndrome (PAPRS)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, designated optic nerve coloboma or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease.
See also OMIM:120330
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0719372D → G in PAPRS. 1 Publication1
Natural variantiVAR_06808025G → V in PAPRS. 1 Publication1
Natural variantiVAR_06808133L → R in PAPRS. 1 Publication1
Natural variantiVAR_01244239 – 40Missing in PAPRS; the patient manifests oligomeganephronia and bilateral optic nerve coloboma. 1 Publication2
Natural variantiVAR_06808261S → I in PAPRS. 1 Publication1
Natural variantiVAR_06808361S → N in PAPRS. 1 Publication1
Natural variantiVAR_06808462 – 66Missing in PAPRS. 1 Publication5
Natural variantiVAR_06808569L → P in PAPRS. 1 Publication1
Natural variantiVAR_06808671R → T in PAPRS. 1 PublicationCorresponds to variant rs104894170dbSNPEnsembl.1
Natural variantiVAR_00378875T → TET in PAPRS. 1
Natural variantiVAR_06808775T → TT in PAPRS. 1 Publication1
Natural variantiVAR_00378976G → S in PAPRS. 1 PublicationCorresponds to variant rs79555199dbSNPEnsembl.1
Natural variantiVAR_06808884G → GSIKPGVIG in PAPRS. 1 Publication1
Natural variantiVAR_06808984G → S in PAPRS. 1 Publication1
Natural variantiVAR_068090117R → P in PAPRS. 1 Publication1
Natural variantiVAR_068091130P → H in PAPRS. 1 Publication1
Natural variantiVAR_068092130P → S in PAPRS. 1 Publication1
Natural variantiVAR_071941139I → V in PAPRS. 1 Publication1
Natural variantiVAR_071944295A → V in PAPRS. 1 Publication1
Natural variantiVAR_071945296L → P in PAPRS. 1 Publication1
Natural variantiVAR_071946298P → S in PAPRS. 1 Publication1
Natural variantiVAR_071947329T → A in PAPRS. 1 Publication1
Focal segmental glomerulosclerosis 7 (FSGS7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.
See also OMIM:616002
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07193856R → Q in FSGS7; decreased DNA-binding capability and transactivation ability. 1 PublicationCorresponds to variant rs587777708dbSNPEnsembl.1
Natural variantiVAR_07193980P → L in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication1
Natural variantiVAR_071940133S → F in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication1
Natural variantiVAR_071942150T → A in FSGS7. 1 Publication1
Natural variantiVAR_068094164T → N in FSGS7. 2 PublicationsCorresponds to variant rs370214925dbSNPEnsembl.1
Natural variantiVAR_071943189G → R in FSGS7; transactivation activity is dramatically decreased in presence of TLE4; dramatically enhances interaction with TLE4. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5076.
MalaCardsiPAX2.
MIMi120330. phenotype.
616002. phenotype.
OpenTargetsiENSG00000075891.
Orphaneti97362. Bilateral renal hypoplasia.
93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
1475. Renal coloboma syndrome.
PharmGKBiPA32956.

Polymorphism and mutation databases

BioMutaiPAX2.
DMDMi223590261.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000501751 – 417Paired box protein Pax-2Add BLAST417

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei226PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ02962.
PaxDbiQ02962.
PeptideAtlasiQ02962.
PRIDEiQ02962.

PTM databases

iPTMnetiQ02962.
PhosphoSitePlusiQ02962.

Expressioni

Tissue specificityi

Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system.

Developmental stagei

Mainly in fetal kidney and juvenile nephrogenic rests.

Gene expression databases

BgeeiENSG00000075891.
CleanExiHS_PAX2.
ExpressionAtlasiQ02962. baseline and differential.
GenevisibleiQ02962. HS.

Organism-specific databases

HPAiCAB013024.
HPA047704.
HPA070751.

Interactioni

Subunit structurei

Interacts with ELGN3; the interaction targets PAX2 for destruction. Interacts with TLE4.2 Publications

GO - Molecular functioni

  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi111110. 22 interactors.
IntActiQ02962. 17 interactors.
STRINGi9606.ENSP00000396259.

Structurei

3D structure databases

ProteinModelPortaliQ02962.
SMRiQ02962.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini16 – 142PairedPROSITE-ProRule annotationAdd BLAST127

Sequence similaritiesi

Contains 1 paired domain.PROSITE-ProRule annotation

Keywords - Domaini

Paired box

Phylogenomic databases

eggNOGiKOG3862. Eukaryota.
ENOG410ZT0S. LUCA.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230938.
HOVERGENiHBG009115.
InParanoidiQ02962.
KOiK15608.
OMAiDSHPSYP.
OrthoDBiEOG091G0S4E.
PhylomeDBiQ02962.
TreeFamiTF315397.

Family and domain databases

CDDicd00131. PAX. 1 hit.
Gene3Di1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProiIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022130. Pax2_C.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00292. PAX. 1 hit.
PF12403. Pax2_C. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SMARTiSM00351. PAX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q02962-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDMHCKADPF SAMHPGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR
60 70 80 90 100
PCDISRQLRV SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVDKIA
110 120 130 140 150
EYKRQNPTMF AWEIRDRLLA EGICDNDTVP SVSSINRIIR TKVQQPFHPT
160 170 180 190 200
PDGAGTGVTA PGHTIVPSTA SPPVSSASND PVGSYSINGI LGIPRSNGEK
210 220 230 240 250
RKRDEVEVYT DPAHIRGGGG LHLVWTLRDV SEGSVPNGDS QSGVDSLRKH
260 270 280 290 300
LRADTFTQQQ LEALDRVFER PSYPDVFQAS EHIKSEQGNE YSLPALTPGL
310 320 330 340 350
DEVKSSLSAS TNPELGSNVS GTQTYPVVTG RDMASTTLPG YPPHVPPTGQ
360 370 380 390 400
GSYPTSTLAG MVPGSEFSGN PYSHPQYTAY NEAWRFSNPA LLSSPYYYSA
410
APRGSAPAAA AAAYDRH
Length:417
Mass (Da):44,706
Last modified:February 10, 2009 - v4
Checksum:i7EA24F9EB8C843F8
GO
Isoform 2 (identifier: Q02962-2) [UniParc]FASTAAdd to basket
Also known as: Fetal kidney

The sequence of this isoform differs from the canonical sequence as follows:
     364-417: GSEFSGNPYS...AAAAAAYDRH → EAAVGPSSSL...RLGDSATPPY

Show »
Length:419
Mass (Da):44,485
Checksum:i0FE028784294B10E
GO
Isoform 3 (identifier: Q02962-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-228: Missing.

Show »
Length:394
Mass (Da):42,177
Checksum:iB0CF2E31D3D09900
GO
Isoform 4 (identifier: Q02962-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-228: Missing.
     364-417: GSEFSGNPYS...AAAAAAYDRH → EAAVGPSSSL...RLGDSATPPY

Show »
Length:396
Mass (Da):41,956
Checksum:iAE946615233BDA16
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti15 – 16PG → R in AAC41711 (PubMed:7981748).Curated2
Sequence conflicti404Missing in AAA60024 (PubMed:1378753).Curated1
Sequence conflicti404Missing in AAC63385 (PubMed:8661132).Curated1
Sequence conflicti410A → R in AAA60024 (PubMed:1378753).Curated1
Sequence conflicti410A → R in AAC63385 (PubMed:8661132).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0719372D → G in PAPRS. 1 Publication1
Natural variantiVAR_06807924G → E Probable disease-associated mutation found in a patient with non-syndromic renal hypodysplasia. 1 PublicationCorresponds to variant rs201239919dbSNPEnsembl.1
Natural variantiVAR_06808025G → V in PAPRS. 1 Publication1
Natural variantiVAR_06808133L → R in PAPRS. 1 Publication1
Natural variantiVAR_01244239 – 40Missing in PAPRS; the patient manifests oligomeganephronia and bilateral optic nerve coloboma. 1 Publication2
Natural variantiVAR_07193856R → Q in FSGS7; decreased DNA-binding capability and transactivation ability. 1 PublicationCorresponds to variant rs587777708dbSNPEnsembl.1
Natural variantiVAR_06808261S → I in PAPRS. 1 Publication1
Natural variantiVAR_06808361S → N in PAPRS. 1 Publication1
Natural variantiVAR_06808462 – 66Missing in PAPRS. 1 Publication5
Natural variantiVAR_06808569L → P in PAPRS. 1 Publication1
Natural variantiVAR_06808671R → T in PAPRS. 1 PublicationCorresponds to variant rs104894170dbSNPEnsembl.1
Natural variantiVAR_00378875T → TET in PAPRS. 1
Natural variantiVAR_06808775T → TT in PAPRS. 1 Publication1
Natural variantiVAR_00378976G → S in PAPRS. 1 PublicationCorresponds to variant rs79555199dbSNPEnsembl.1
Natural variantiVAR_07193980P → L in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication1
Natural variantiVAR_06808884G → GSIKPGVIG in PAPRS. 1 Publication1
Natural variantiVAR_06808984G → S in PAPRS. 1 Publication1
Natural variantiVAR_068090117R → P in PAPRS. 1 Publication1
Natural variantiVAR_068091130P → H in PAPRS. 1 Publication1
Natural variantiVAR_068092130P → S in PAPRS. 1 Publication1
Natural variantiVAR_071940133S → F in FSGS7; decreased DNA-binding capability and transactivation ability. 1 Publication1
Natural variantiVAR_071941139I → V in PAPRS. 1 Publication1
Natural variantiVAR_071942150T → A in FSGS7. 1 Publication1
Natural variantiVAR_068093160A → T.1 PublicationCorresponds to variant rs201383632dbSNPEnsembl.1
Natural variantiVAR_068094164T → N in FSGS7. 2 PublicationsCorresponds to variant rs370214925dbSNPEnsembl.1
Natural variantiVAR_068095175S → T.1 Publication1
Natural variantiVAR_071943189G → R in FSGS7; transactivation activity is dramatically decreased in presence of TLE4; dramatically enhances interaction with TLE4. 1 Publication1
Natural variantiVAR_071944295A → V in PAPRS. 1 Publication1
Natural variantiVAR_071945296L → P in PAPRS. 1 Publication1
Natural variantiVAR_071946298P → S in PAPRS. 1 Publication1
Natural variantiVAR_071947329T → A in PAPRS. 1 Publication1
Natural variantiVAR_012443334A → V.2 PublicationsCorresponds to variant rs78738655dbSNPEnsembl.1
Natural variantiVAR_068096387S → N Found in a patient with bilateral optic nerve colobomas; uncertain pathological significance. 1 PublicationCorresponds to variant rs138490772dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002345206 – 228Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST23
Alternative sequenceiVSP_002346364 – 417GSEFS…AYDRH → EAAVGPSSSLMSKPGRKLAE VPPCVQPTGASSPATRTATP STRPTTRLGDSATPPY in isoform 2 and isoform 4. 1 PublicationAdd BLAST54

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M89470 mRNA. Translation: AAA60024.1.
L25597 mRNA. Translation: AAA36417.1.
U45255
, U45245, U45246, U45247, U45248, U45249, U45250, U45251, U45253, U45254 Genomic DNA. Translation: AAC63385.1.
AL138762, AL589862 Genomic DNA. Translation: CAH70951.1.
AL138762, AL589862 Genomic DNA. Translation: CAH70952.1.
AL589862, AL138762 Genomic DNA. Translation: CAI17855.1.
AL589862, AL138762 Genomic DNA. Translation: CAI17856.1.
CH471066 Genomic DNA. Translation: EAW49812.1.
CH471066 Genomic DNA. Translation: EAW49813.1.
L09747, L09748, L09746 Genomic DNA. Translation: AAC41711.1.
CCDSiCCDS41561.1. [Q02962-3]
CCDS7499.1. [Q02962-4]
PIRiA49008.
RefSeqiNP_000269.3. NM_000278.4. [Q02962-3]
NP_001291498.1. NM_001304569.1.
NP_003978.3. NM_003987.4. [Q02962-1]
NP_003979.2. NM_003988.4. [Q02962-4]
NP_003980.3. NM_003989.4.
NP_003981.3. NM_003990.4.
UniGeneiHs.155644.

Genome annotation databases

EnsembliENST00000355243; ENSP00000347385; ENSG00000075891. [Q02962-3]
ENST00000370296; ENSP00000359319; ENSG00000075891. [Q02962-4]
ENST00000428433; ENSP00000396259; ENSG00000075891. [Q02962-1]
GeneIDi5076.
KEGGihsa:5076.
UCSCiuc001krl.4. human. [Q02962-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

PAX2 mutation db
Atlas of Genetics and Cytogenetics in Oncology and Haematology
PAX2 variant database paired box 2 (PAX2)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M89470 mRNA. Translation: AAA60024.1.
L25597 mRNA. Translation: AAA36417.1.
U45255
, U45245, U45246, U45247, U45248, U45249, U45250, U45251, U45253, U45254 Genomic DNA. Translation: AAC63385.1.
AL138762, AL589862 Genomic DNA. Translation: CAH70951.1.
AL138762, AL589862 Genomic DNA. Translation: CAH70952.1.
AL589862, AL138762 Genomic DNA. Translation: CAI17855.1.
AL589862, AL138762 Genomic DNA. Translation: CAI17856.1.
CH471066 Genomic DNA. Translation: EAW49812.1.
CH471066 Genomic DNA. Translation: EAW49813.1.
L09747, L09748, L09746 Genomic DNA. Translation: AAC41711.1.
CCDSiCCDS41561.1. [Q02962-3]
CCDS7499.1. [Q02962-4]
PIRiA49008.
RefSeqiNP_000269.3. NM_000278.4. [Q02962-3]
NP_001291498.1. NM_001304569.1.
NP_003978.3. NM_003987.4. [Q02962-1]
NP_003979.2. NM_003988.4. [Q02962-4]
NP_003980.3. NM_003989.4.
NP_003981.3. NM_003990.4.
UniGeneiHs.155644.

3D structure databases

ProteinModelPortaliQ02962.
SMRiQ02962.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111110. 22 interactors.
IntActiQ02962. 17 interactors.
STRINGi9606.ENSP00000396259.

PTM databases

iPTMnetiQ02962.
PhosphoSitePlusiQ02962.

Polymorphism and mutation databases

BioMutaiPAX2.
DMDMi223590261.

Proteomic databases

MaxQBiQ02962.
PaxDbiQ02962.
PeptideAtlasiQ02962.
PRIDEiQ02962.

Protocols and materials databases

DNASUi5076.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355243; ENSP00000347385; ENSG00000075891. [Q02962-3]
ENST00000370296; ENSP00000359319; ENSG00000075891. [Q02962-4]
ENST00000428433; ENSP00000396259; ENSG00000075891. [Q02962-1]
GeneIDi5076.
KEGGihsa:5076.
UCSCiuc001krl.4. human. [Q02962-1]

Organism-specific databases

CTDi5076.
DisGeNETi5076.
GeneCardsiPAX2.
GeneReviewsiPAX2.
HGNCiHGNC:8616. PAX2.
HPAiCAB013024.
HPA047704.
HPA070751.
MalaCardsiPAX2.
MIMi120330. phenotype.
167409. gene.
616002. phenotype.
neXtProtiNX_Q02962.
OpenTargetsiENSG00000075891.
Orphaneti97362. Bilateral renal hypoplasia.
93213. Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis.
1475. Renal coloboma syndrome.
PharmGKBiPA32956.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3862. Eukaryota.
ENOG410ZT0S. LUCA.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230938.
HOVERGENiHBG009115.
InParanoidiQ02962.
KOiK15608.
OMAiDSHPSYP.
OrthoDBiEOG091G0S4E.
PhylomeDBiQ02962.
TreeFamiTF315397.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000075891-MONOMER.
SignaLinkiQ02962.
SIGNORiQ02962.

Miscellaneous databases

GeneWikiiPAX2.
GenomeRNAii5076.
PROiQ02962.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000075891.
CleanExiHS_PAX2.
ExpressionAtlasiQ02962. baseline and differential.
GenevisibleiQ02962. HS.

Family and domain databases

CDDicd00131. PAX. 1 hit.
Gene3Di1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProiIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022130. Pax2_C.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00292. PAX. 1 hit.
PF12403. Pax2_C. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SMARTiSM00351. PAX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPAX2_HUMAN
AccessioniPrimary (citable) accession number: Q02962
Secondary accession number(s): Q15105
, Q15110, Q15837, Q5SZP2, Q5SZP3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: February 10, 2009
Last modified: November 30, 2016
This is version 178 of the entry and version 4 of the sequence. [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 10
    Human chromosome 10: 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.