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P26367

- PAX6_HUMAN

UniProt

P26367 - PAX6_HUMAN

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Protein

Paired box protein Pax-6

Gene

PAX6

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

Functioni

Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi210 – 26960HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. AT DNA binding Source: Ensembl
  2. chromatin binding Source: Ensembl
  3. DNA binding Source: ProtInc
  4. double-stranded DNA binding Source: Ensembl
  5. histone acetyltransferase binding Source: BHF-UCL
  6. protein kinase binding Source: BHF-UCL
  7. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  8. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  9. RNA polymerase II core promoter sequence-specific DNA binding Source: BHF-UCL
  10. R-SMAD binding Source: BHF-UCL
  11. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: BHF-UCL
  12. sequence-specific DNA binding transcription factor activity Source: ProtInc
  13. transcription factor binding Source: BHF-UCL
  14. ubiquitin-protein transferase activity Source: UniProtKB

GO - Biological processi

  1. astrocyte differentiation Source: Ensembl
  2. axon guidance Source: Ensembl
  3. blood vessel development Source: DFLAT
  4. cell fate determination Source: Ensembl
  5. central nervous system development Source: ProtInc
  6. cerebral cortex regionalization Source: Ensembl
  7. commitment of neuronal cell to specific neuron type in forebrain Source: Ensembl
  8. cornea development in camera-type eye Source: DFLAT
  9. dorsal/ventral axis specification Source: Ensembl
  10. embryonic camera-type eye morphogenesis Source: Ensembl
  11. eye development Source: ProtInc
  12. eye photoreceptor cell development Source: Ensembl
  13. forebrain anterior/posterior pattern specification Source: Ensembl
  14. forebrain dorsal/ventral pattern formation Source: Ensembl
  15. forebrain-midbrain boundary formation Source: Ensembl
  16. glucose homeostasis Source: DFLAT
  17. hindbrain development Source: Ensembl
  18. iris morphogenesis Source: DFLAT
  19. keratinocyte differentiation Source: Ensembl
  20. lacrimal gland development Source: Ensembl
  21. lens development in camera-type eye Source: Ensembl
  22. negative regulation of epithelial cell proliferation Source: Ensembl
  23. negative regulation of neurogenesis Source: UniProtKB
  24. negative regulation of neuron differentiation Source: Ensembl
  25. neuron fate commitment Source: UniProtKB
  26. neuron migration Source: Ensembl
  27. oligodendrocyte cell fate specification Source: Ensembl
  28. organ morphogenesis Source: ProtInc
  29. pancreatic A cell development Source: BHF-UCL
  30. pituitary gland development Source: Ensembl
  31. positive regulation of cell fate specification Source: Ensembl
  32. positive regulation of epithelial cell differentiation Source: Ensembl
  33. positive regulation of gene expression Source: BHF-UCL
  34. positive regulation of neuroblast proliferation Source: Ensembl
  35. positive regulation of transcription, DNA-templated Source: BHF-UCL
  36. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  37. protein localization to organelle Source: Ensembl
  38. protein ubiquitination Source: GOC
  39. regulation of cell migration Source: Ensembl
  40. regulation of timing of cell differentiation Source: Ensembl
  41. regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment Source: Ensembl
  42. regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification Source: Ensembl
  43. regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification Source: Ensembl
  44. response to wounding Source: UniProtKB
  45. retina development in camera-type eye Source: Ensembl
  46. salivary gland morphogenesis Source: Ensembl
  47. signal transduction involved in regulation of gene expression Source: Ensembl
  48. smoothened signaling pathway Source: Ensembl
  49. transcription from RNA polymerase II promoter Source: BHF-UCL
  50. type B pancreatic cell differentiation Source: Ensembl
  51. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_13819. Regulation of gene expression in beta cells.
REACT_23824. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP).
REACT_24019. Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1).
SignaLinkiP26367.

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-6
Alternative name(s):
Aniridia type II protein
Oculorhombin
Gene namesi
Name:PAX6
Synonyms:AN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:8620. PAX6.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nuclear chromatin Source: BHF-UCL
  3. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Aniridia (AN) [MIM:106210]: A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.16 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171N → S in AN. 1 Publication
VAR_003808
Natural varianti18 – 181G → W in AN. 1 Publication
VAR_003809
Natural varianti19 – 191R → P in AN. 1 Publication
VAR_047860
Natural varianti22 – 265Missing in AN. 2 Publications
VAR_008693
Natural varianti26 – 261R → G in PETAN. 2 Publications
VAR_003810
Natural varianti29 – 291I → S in AN. 1 Publication
VAR_008694
Natural varianti29 – 291I → V in AN. 1 Publication
VAR_003811
Natural varianti33 – 331A → P in AN. 1 Publication
VAR_008695
Natural varianti37 – 393Missing in AN. 1 Publication
VAR_008696
Natural varianti42 – 421I → S in AN; mild. 1 Publication
VAR_008697
Natural varianti43 – 431S → P in AN. 1 Publication
VAR_008698
Natural varianti44 – 441R → Q in AN. 1 Publication
VAR_003812
Natural varianti46 – 461L → R in AN; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. 1 Publication
VAR_047861
Natural varianti52 – 521C → R in AN; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. 1 Publication
VAR_047862
Natural varianti53 – 531V → D in PETAN; also found in patients with congenital cataract and foveal hypoplasia. 1 Publication
VAR_008700
Natural varianti53 – 531V → L in AN; mild; shows 50% lower DNA-binding and transactivation ability than the wild-type protein. 1 Publication
VAR_008699
Natural varianti56 – 561I → T in AN; shows only one-quarter to one-third the binding ability of the normal wild-type protein; exhibits normal transactivation. 1 Publication
VAR_047863
Natural varianti63 – 631T → P in AN; mild. 1 Publication
VAR_008701
Natural varianti73 – 731G → D in AN; shows almost no binding efficiency; transcriptional activation ability is about 80% of that of the wild-type protein. 1 Publication
VAR_047864
Natural varianti79 – 791A → E in AN; mild. 1 Publication
VAR_008703
Natural varianti87 – 871I → K in AN. 1 Publication
VAR_047865
Natural varianti87 – 871I → R in AN; loss of activity. 1 Publication
VAR_003813
Natural varianti119 – 1191S → R in AN. 2 Publications
VAR_008704
Natural varianti126 – 1261V → D in AN; atypical form. 1 Publication
VAR_008705
Natural varianti178 – 1781Q → H in AN. 1 Publication
VAR_003815
Natural varianti208 – 2081R → Q in AN; mild. 1 Publication
VAR_008706
Natural varianti208 – 2081R → W in AN. 1 Publication
VAR_003816
Natural varianti242 – 2421R → T in AN; the mutant homeodomain binds DNA as well as the wild-type homeodomain; the mutant does not modify the DNA-binding properties of the paired domain; the steady-state levels of the full length mutant protein are higher than those of the wild-type one; a responsive promoter is activated to a higher extend by the mutant protein than by the wild-type protein; the presence of the mutation reduces sensitivity to trypsin digestion. 1 Publication
VAR_047866
Natural varianti353 – 3531S → A in AN. 1 Publication
VAR_008707
Natural varianti363 – 3631S → P in PETAN. 1 Publication
VAR_017544
Natural varianti375 – 3751P → Q in AN; reduced DNA binding ability. 1 Publication
Corresponds to variant rs200015827 [ dbSNP | Ensembl ].
VAR_015066
Natural varianti395 – 3951G → R in AN. 1 Publication
VAR_067698
Natural varianti422 – 4221Q → R in AN and ocular anterior segment anomalies; loss of DNA binding ability. 2 Publications
VAR_008708
Peters anomaly (PETAN) [MIM:604229]: Consists of a central corneal leukoma, absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iris and lenticular attachments to the central aspect of the posterior cornea.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261R → G in PETAN. 2 Publications
VAR_003810
Natural varianti53 – 531V → D in PETAN; also found in patients with congenital cataract and foveal hypoplasia. 1 Publication
VAR_008700
Natural varianti363 – 3631S → P in PETAN. 1 Publication
VAR_017544
Foveal hypoplasia 1 (FVH1) [MIM:136520]: An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Anterior segment anomalies and cataract are observed in some FVH1 patients.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti125 – 1251R → C in FVH1; isolated. 1 Publication
VAR_017541
Natural varianti128 – 1281R → C in FVH1; isolated. 1 Publication
VAR_003814
Keratitis hereditary (KERH) [MIM:148190]: An ocular disorder characterized by corneal opacification, recurrent stromal keratitis and vascularization.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Coloboma, ocular, autosomal dominant (COAD) [MIM:120200]: A set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti258 – 2581F → S in COAD; significant impairment of transcriptional activation ability. 1 Publication
VAR_017542
Coloboma of optic nerve (COLON) [MIM:120430]: An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Bilateral optic nerve hypoplasia (BONH) [MIM:165550]: A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti292 – 2921S → I in BONH; significant impairment of ability to activate transcription. 1 Publication
VAR_017543
Natural varianti381 – 3811M → V in BONH. 1 Publication
VAR_017546
Natural varianti391 – 3911T → A in BONH. 1 Publication
VAR_017547
Aniridia, cerebellar ataxia and mental deficiency (ACAMD) [MIM:206700]: A rare condition consisting of partial rudimentary iris, cerebellar impairment of the ability to perform coordinated voluntary movements, and mental retardation.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Disease mutation, Mental retardation, Peters anomaly

Organism-specific databases

MIMi106210. phenotype.
120200. phenotype.
120430. phenotype.
136520. phenotype.
148190. phenotype.
165550. phenotype.
206700. phenotype.
604229. phenotype.
Orphaneti1065. Aniridia - cerebellar ataxia - intellectual disability.
2334. Autosomal dominant keratitis.
2253. Foveal hypoplasia - presenile cataract.
250923. Isolated aniridia.
137902. Isolated optic nerve hypoplasia.
35737. Morning glory syndrome.
194. Ocular coloboma.
708. Peters anomaly.
893. WAGR syndrome.
PharmGKBiPA32960.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 422422Paired box protein Pax-6PRO_0000050185Add
BLAST

Post-translational modificationi

Ubiquitinated by TRIM11, leading to ubiquitination and proteasomal degradation.By similarity

Keywords - PTMi

Ubl conjugation

Proteomic databases

MaxQBiP26367.
PaxDbiP26367.
PRIDEiP26367.

PTM databases

PhosphoSiteiP26367.

Expressioni

Tissue specificityi

Fetal eye, brain, spinal cord and olfactory epithelium. Isoform 5a is less abundant than the PAX6 shorter form.

Developmental stagei

Expressed in the developing eye and brain. Expression in the retina peaks at fetal days 51-60. At 6-week old, in the retina, is predominantly detected in the neural layer (at protein level). At 8- and 10-week old, in the retina, the expression is strongest in the inner and middle layer of the neural part (at protein level).1 Publication

Gene expression databases

BgeeiP26367.
CleanExiHS_PAX6.
ExpressionAtlasiP26367. baseline and differential.
GenevestigatoriP26367.

Organism-specific databases

HPAiCAB034143.
HPA030775.

Interactioni

Subunit structurei

Interacts with MAF and MAFB. Interacts with TRIM11; this interaction leads to ubiquitination and proteasomal degradation, as well as inhibition of transactivation, possibly in part by preventing PAX6 binding to consensus DNA sequences.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
Dynll1P631683EBI-747278,EBI-349121From a different organism.
HOMER3Q9NSC53EBI-747278,EBI-748420

Protein-protein interaction databases

BioGridi111114. 31 interactions.
DIPiDIP-37436N.
IntActiP26367. 6 interactions.
MINTiMINT-1465118.
STRINGi9606.ENSP00000368401.

Structurei

Secondary structure

1
422
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi6 – 83
Beta strandi14 – 163
Helixi23 – 3412
Helixi39 – 468
Helixi50 – 6314
Beta strandi77 – 793
Helixi81 – 9313
Helixi99 – 10810
Turni114 – 1163
Helixi120 – 13314
Helixi219 – 22911
Helixi237 – 24610
Helixi251 – 27525

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CUENMR-A211-277[»]
6PAXX-ray2.50A4-136[»]
ProteinModelPortaliP26367.
SMRiP26367. Positions 4-136, 211-278.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP26367.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 130127PairedPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi131 – 20979Gln/Gly-richAdd
BLAST
Compositional biasi279 – 422144Pro/Ser/Thr-richAdd
BLAST

Sequence similaritiesi

Belongs to the paired homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 paired domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox, Paired box

Phylogenomic databases

eggNOGiNOG326044.
GeneTreeiENSGT00680000099553.
HOVERGENiHBG009115.
InParanoidiP26367.
KOiK08031.
OMAiAGENTNS.
OrthoDBiEOG7WT431.
PhylomeDBiP26367.
TreeFamiTF320146.

Family and domain databases

Gene3Di1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SMARTiSM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 2 hits.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P26367-1) [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
MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN
60 70 80 90 100
GCVSKILGRY YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW
110 120 130 140 150
EIRDRLLSEG VCTNDNIPSV SSINRVLRNL ASEKQQMGAD GMYDKLRMLN
160 170 180 190 200
GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA
210 220 230 240 250
QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP
260 270 280 290 300
EARIQVWFSN RRAKWRREEK LRNQRRQASN TPSHIPISSS FSTSVYQPIP
310 320 330 340 350
QPTTPVSSFT SGSMLGRTDT ALTNTYSALP PMPSFTMANN LPMQPPVPSQ
360 370 380 390 400
TSSYSCMLPT SPSVNGRSYD TYTPPHMQTH MNSQPMGTSG TTSTGLISPG
410 420
VSVPVQVPGS EPDMSQYWPR LQ
Length:422
Mass (Da):46,683
Last modified:July 15, 1999 - v2
Checksum:iC33CDD2C1B13C397
GO
Isoform 5a (identifier: P26367-2) [UniParc]FASTAAdd to Basket

Also known as: Pax6-5a

The sequence of this isoform differs from the canonical sequence as follows:
     47-47: Q → QTHADAKVQVLDNQN

Show »
Length:436
Mass (Da):48,218
Checksum:i74926827347A20B5
GO
Isoform 3 (identifier: P26367-3)

Also known as: Pax6-5A,6*

Sequence is not available
Length:
Mass (Da):

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti317 – 3171R → L in AAA59962. (PubMed:1684738)Curated
Sequence conflicti369 – 3691Y → C in CAE45868. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171N → S in AN. 1 Publication
VAR_003808
Natural varianti18 – 181G → W in AN. 1 Publication
VAR_003809
Natural varianti19 – 191R → P in AN. 1 Publication
VAR_047860
Natural varianti22 – 265Missing in AN. 2 Publications
VAR_008693
Natural varianti26 – 261R → G in PETAN. 2 Publications
VAR_003810
Natural varianti29 – 291I → S in AN. 1 Publication
VAR_008694
Natural varianti29 – 291I → V in AN. 1 Publication
VAR_003811
Natural varianti33 – 331A → P in AN. 1 Publication
VAR_008695
Natural varianti37 – 393Missing in AN. 1 Publication
VAR_008696
Natural varianti42 – 421I → S in AN; mild. 1 Publication
VAR_008697
Natural varianti43 – 431S → P in AN. 1 Publication
VAR_008698
Natural varianti44 – 441R → Q in AN. 1 Publication
VAR_003812
Natural varianti46 – 461L → R in AN; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. 1 Publication
VAR_047861
Natural varianti52 – 521C → R in AN; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein. 1 Publication
VAR_047862
Natural varianti53 – 531V → D in PETAN; also found in patients with congenital cataract and foveal hypoplasia. 1 Publication
VAR_008700
Natural varianti53 – 531V → L in AN; mild; shows 50% lower DNA-binding and transactivation ability than the wild-type protein. 1 Publication
VAR_008699
Natural varianti56 – 561I → T in AN; shows only one-quarter to one-third the binding ability of the normal wild-type protein; exhibits normal transactivation. 1 Publication
VAR_047863
Natural varianti63 – 631T → P in AN; mild. 1 Publication
VAR_008701
Natural varianti64 – 641G → V in foveal hypoplasia; associated with presenile cataract syndrome. 1 Publication
VAR_008702
Natural varianti68 – 681P → S in morning glory disk anomaly; significant impairment of transcriptional activation ability. 1 Publication
VAR_017540
Natural varianti73 – 731G → D in AN; shows almost no binding efficiency; transcriptional activation ability is about 80% of that of the wild-type protein. 1 Publication
VAR_047864
Natural varianti79 – 791A → E in AN; mild. 1 Publication
VAR_008703
Natural varianti87 – 871I → K in AN. 1 Publication
VAR_047865
Natural varianti87 – 871I → R in AN; loss of activity. 1 Publication
VAR_003813
Natural varianti118 – 1181P → R in a family with nystagmus associated with a variant form of aniridia. 1 Publication
VAR_015065
Natural varianti119 – 1191S → R in AN. 2 Publications
VAR_008704
Natural varianti125 – 1251R → C in FVH1; isolated. 1 Publication
VAR_017541
Natural varianti126 – 1261V → D in AN; atypical form. 1 Publication
VAR_008705
Natural varianti128 – 1281R → C in FVH1; isolated. 1 Publication
VAR_003814
Natural varianti178 – 1781Q → H in AN. 1 Publication
VAR_003815
Natural varianti208 – 2081R → Q in AN; mild. 1 Publication
VAR_008706
Natural varianti208 – 2081R → W in AN. 1 Publication
VAR_003816
Natural varianti242 – 2421R → T in AN; the mutant homeodomain binds DNA as well as the wild-type homeodomain; the mutant does not modify the DNA-binding properties of the paired domain; the steady-state levels of the full length mutant protein are higher than those of the wild-type one; a responsive promoter is activated to a higher extend by the mutant protein than by the wild-type protein; the presence of the mutation reduces sensitivity to trypsin digestion. 1 Publication
VAR_047866
Natural varianti258 – 2581F → S in COAD; significant impairment of transcriptional activation ability. 1 Publication
VAR_017542
Natural varianti292 – 2921S → I in BONH; significant impairment of ability to activate transcription. 1 Publication
VAR_017543
Natural varianti321 – 3211A → T Shows about two-fold higher binding efficiency than the normal wild-type protein; transcriptional activation ability is about 89% of that of the wild-type protein. 1 Publication
VAR_047867
Natural varianti353 – 3531S → A in AN. 1 Publication
VAR_008707
Natural varianti363 – 3631S → P in PETAN. 1 Publication
VAR_017544
Natural varianti375 – 3751P → Q in AN; reduced DNA binding ability. 1 Publication
Corresponds to variant rs200015827 [ dbSNP | Ensembl ].
VAR_015066
Natural varianti378 – 3781Q → R in optic nerve aplasia. 1 Publication
VAR_017545
Natural varianti381 – 3811M → V in BONH. 1 Publication
VAR_017546
Natural varianti387 – 3871G → D.1 Publication
VAR_047868
Natural varianti391 – 3911T → A in BONH. 1 Publication
VAR_017547
Natural varianti395 – 3951G → R in AN. 1 Publication
VAR_067698
Natural varianti422 – 4221Q → R in AN and ocular anterior segment anomalies; loss of DNA binding ability. 2 Publications
VAR_008708

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei47 – 471Q → QTHADAKVQVLDNQN in isoform 5a. 1 PublicationVSP_002366

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M77844 mRNA. Translation: AAA59962.1.
M93650 mRNA. Translation: AAA36416.1.
AY047583 mRNA. Translation: AAK95849.1.
BX640762 mRNA. Translation: CAE45868.1.
Z95332, Z83307 Genomic DNA. Translation: CAG38363.1.
Z83307, Z95332 Genomic DNA. Translation: CAG38087.1.
BC011953 mRNA. Translation: AAH11953.1.
CCDSiCCDS31451.1. [P26367-1]
CCDS31452.1. [P26367-2]
PIRiA56674.
RefSeqiNP_000271.1. NM_000280.4. [P26367-1]
NP_001121084.1. NM_001127612.1. [P26367-1]
NP_001245393.1. NM_001258464.1. [P26367-1]
NP_001245394.1. NM_001258465.1. [P26367-1]
NP_001595.2. NM_001604.5. [P26367-2]
XP_005253012.1. XM_005252955.2. [P26367-1]
XP_005253013.1. XM_005252956.2. [P26367-1]
UniGeneiHs.270303.
Hs.611376.

Genome annotation databases

EnsembliENST00000241001; ENSP00000241001; ENSG00000007372. [P26367-1]
ENST00000379107; ENSP00000368401; ENSG00000007372. [P26367-2]
ENST00000379109; ENSP00000368403; ENSG00000007372. [P26367-1]
ENST00000379111; ENSP00000368406; ENSG00000007372. [P26367-1]
ENST00000379115; ENSP00000368410; ENSG00000007372. [P26367-2]
ENST00000379123; ENSP00000368418; ENSG00000007372. [P26367-1]
ENST00000379129; ENSP00000368424; ENSG00000007372. [P26367-2]
ENST00000379132; ENSP00000368427; ENSG00000007372. [P26367-1]
ENST00000419022; ENSP00000404100; ENSG00000007372. [P26367-2]
ENST00000606377; ENSP00000480026; ENSG00000007372. [P26367-2]
GeneIDi5080.
KEGGihsa:5080.
UCSCiuc001mtd.4. human. [P26367-1]

Polymorphism databases

DMDMi6174889.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Human PAX6 allelic variant database web site
Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M77844 mRNA. Translation: AAA59962.1 .
M93650 mRNA. Translation: AAA36416.1 .
AY047583 mRNA. Translation: AAK95849.1 .
BX640762 mRNA. Translation: CAE45868.1 .
Z95332 , Z83307 Genomic DNA. Translation: CAG38363.1 .
Z83307 , Z95332 Genomic DNA. Translation: CAG38087.1 .
BC011953 mRNA. Translation: AAH11953.1 .
CCDSi CCDS31451.1. [P26367-1 ]
CCDS31452.1. [P26367-2 ]
PIRi A56674.
RefSeqi NP_000271.1. NM_000280.4. [P26367-1 ]
NP_001121084.1. NM_001127612.1. [P26367-1 ]
NP_001245393.1. NM_001258464.1. [P26367-1 ]
NP_001245394.1. NM_001258465.1. [P26367-1 ]
NP_001595.2. NM_001604.5. [P26367-2 ]
XP_005253012.1. XM_005252955.2. [P26367-1 ]
XP_005253013.1. XM_005252956.2. [P26367-1 ]
UniGenei Hs.270303.
Hs.611376.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2CUE NMR - A 211-277 [» ]
6PAX X-ray 2.50 A 4-136 [» ]
ProteinModelPortali P26367.
SMRi P26367. Positions 4-136, 211-278.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111114. 31 interactions.
DIPi DIP-37436N.
IntActi P26367. 6 interactions.
MINTi MINT-1465118.
STRINGi 9606.ENSP00000368401.

PTM databases

PhosphoSitei P26367.

Polymorphism databases

DMDMi 6174889.

Proteomic databases

MaxQBi P26367.
PaxDbi P26367.
PRIDEi P26367.

Protocols and materials databases

DNASUi 5080.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000241001 ; ENSP00000241001 ; ENSG00000007372 . [P26367-1 ]
ENST00000379107 ; ENSP00000368401 ; ENSG00000007372 . [P26367-2 ]
ENST00000379109 ; ENSP00000368403 ; ENSG00000007372 . [P26367-1 ]
ENST00000379111 ; ENSP00000368406 ; ENSG00000007372 . [P26367-1 ]
ENST00000379115 ; ENSP00000368410 ; ENSG00000007372 . [P26367-2 ]
ENST00000379123 ; ENSP00000368418 ; ENSG00000007372 . [P26367-1 ]
ENST00000379129 ; ENSP00000368424 ; ENSG00000007372 . [P26367-2 ]
ENST00000379132 ; ENSP00000368427 ; ENSG00000007372 . [P26367-1 ]
ENST00000419022 ; ENSP00000404100 ; ENSG00000007372 . [P26367-2 ]
ENST00000606377 ; ENSP00000480026 ; ENSG00000007372 . [P26367-2 ]
GeneIDi 5080.
KEGGi hsa:5080.
UCSCi uc001mtd.4. human. [P26367-1 ]

Organism-specific databases

CTDi 5080.
GeneCardsi GC11M031806.
GeneReviewsi PAX6.
HGNCi HGNC:8620. PAX6.
HPAi CAB034143.
HPA030775.
MIMi 106210. phenotype.
120200. phenotype.
120430. phenotype.
136520. phenotype.
148190. phenotype.
165550. phenotype.
206700. phenotype.
604229. phenotype.
607108. gene.
neXtProti NX_P26367.
Orphaneti 1065. Aniridia - cerebellar ataxia - intellectual disability.
2334. Autosomal dominant keratitis.
2253. Foveal hypoplasia - presenile cataract.
250923. Isolated aniridia.
137902. Isolated optic nerve hypoplasia.
35737. Morning glory syndrome.
194. Ocular coloboma.
708. Peters anomaly.
893. WAGR syndrome.
PharmGKBi PA32960.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG326044.
GeneTreei ENSGT00680000099553.
HOVERGENi HBG009115.
InParanoidi P26367.
KOi K08031.
OMAi AGENTNS.
OrthoDBi EOG7WT431.
PhylomeDBi P26367.
TreeFami TF320146.

Enzyme and pathway databases

Reactomei REACT_13819. Regulation of gene expression in beta cells.
REACT_23824. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP).
REACT_24019. Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1).
SignaLinki P26367.

Miscellaneous databases

EvolutionaryTracei P26367.
GeneWikii PAX6.
GenomeRNAii 5080.
NextBioi 19596.
PROi P26367.
SOURCEi Search...

Gene expression databases

Bgeei P26367.
CleanExi HS_PAX6.
ExpressionAtlasi P26367. baseline and differential.
Genevestigatori P26367.

Family and domain databases

Gene3Di 1.10.10.10. 2 hits.
1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
PF00292. PAX. 1 hit.
[Graphical view ]
PRINTSi PR00027. PAIREDBOX.
SMARTi SM00389. HOX. 1 hit.
SM00351. PAX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 2 hits.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region."
    Ton C.C.T., Hirvonen H., Miwa H., Weil M.M., Monaghan P., Jordan T., van Heyningen V., Hastie N.D., Meijers-Heijboer H., Drechsler M., Royer-Pokora B., Collins F.S., Swaroop A., Strong L.C., Saunders G.F.
    Cell 67:1059-1074(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Fetal eye.
  2. "Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene."
    Glaser T., Walton D.S., Maas R.L.
    Nat. Genet. 2:232-239(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. Liu J., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B.
    Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5A).
    Tissue: Cerebellum.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung.
  7. "Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing."
    Epstein J.A., Glaser T., Cai J., Jepeal L., Walton D.S., Maas R.L.
    Genes Dev. 8:2022-2034(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING, DNA-BINDING.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina."
    Larsen K.B., Lutterodt M., Rath M.F., Moeller M.
    Int. J. Dev. Neurosci. 27:485-492(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: DEVELOPMENTAL STAGE.
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "Crystal structure of the human Pax-6 paired domain-DNA complex reveals specific roles for the linker region and carboxyl-terminal subdomain in DNA binding."
    Xu H.E., Rould M.A., Xu W., Epstein J.A., Maas R.L., Pabo C.O.
    Genes Dev. 13:1263-1275(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 4-136.
  12. Cited for: REVIEW ON VARIANTS.
  13. "Solution structure of the homeobox domain of the human paired box protein PAX-6."
    RIKEN structural genomics initiative (RSGI)
    Submitted (NOV-2005) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 211-277.
  14. Cited for: VARIANT AN TRP-208.
  15. "Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly."
    Hanson I.M., Fletcher J.M., Jordan T., Brown A., Taylor D., Adams R.J., Punnet H.H., van Heyningen V.
    Nat. Genet. 6:168-173(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PETAN GLY-26.
  16. "PAX6 missense mutation in isolated foveal hypoplasia."
    Azuma N., Nishina S., Yanagisawa H., Okuyama T., Yamada M.
    Nat. Genet. 13:141-142(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FVH1 CYS-125 AND CYS-128.
  17. "Functional analysis of paired box missense mutations in the PAX6 gene."
    Tang H.K., Chao L.-Y., Saunders G.F.
    Hum. Mol. Genet. 6:381-386(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AN ARG-87, VARIANT GLY-26.
  18. "Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations."
    Axton R., Hanson I.M., Love J., Seawright A., Prosser J., van Heyningen V.
    Mol. Cell. Probes 11:287-292(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AN 22-PRO--ARG-26 DEL.
  19. Cited for: VARIANT AN TRP-18.
  20. "Missense mutation at the C-terminus of the PAX6 gene in ocular anterior segment anomalies."
    Azuma N., Yamada M.
    Invest. Ophthalmol. Vis. Sci. 39:828-830(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EYE MALFORMATIONS ARG-422.
  21. "Missense mutations in the PAX6 gene in aniridia."
    Azuma N., Hotta Y., Tanaka H., Yamada M.
    Invest. Ophthalmol. Vis. Sci. 39:2524-2528(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AN SER-17; VAL-29; GLN-44 AND HIS-178.
  22. "Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies."
    Azuma N., Yamaguchi Y., Handa H., Hayakawa M., Kanai A., Yamada M.
    Am. J. Hum. Genet. 65:656-663(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PETAN ASP-53.
  23. "Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype."
    Groenskov K., Rosenberg T., Sand A., Broendum-Nielsen K.
    Eur. J. Hum. Genet. 7:274-286(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: ALTERNATIVE SPLICING, VARIANTS AN SER-42; LEU-53; PRO-63; GLU-79 AND GLN-208.
  24. "Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations."
    Hanson I.M., Churchill A., Love J., Axton R., Moore T., Clarke M., Meire F., van Heyningen V.
    Hum. Mol. Genet. 8:165-172(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AN PRO-33; PRO-43 AND ASP-126, VARIANT FVH1 VAL-64.
  25. Wildhardt G.
    Unpublished observations (APR-1999)
    Cited for: VARIANTS AN SER-29; ARG-119 AND ALA-353.
  26. Saunders G.F.
    Unpublished observations (AUG-1999)
    Cited for: VARIANT AN 37-ALA--PRO-39 DEL.
  27. "A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia."
    Sonoda S., Isashiki Y., Tabata Y., Kimura K., Kakiuchi T., Ohba N.
    Graefes Arch. Clin. Exp. Ophthalmol. 238:552-558(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NYSTAGMUS ARG-118.
  28. "Mutation in the PAX6 gene in twenty patients with aniridia."
    Chao L.-Y., Huff V., Strong L.C., Saunders G.F.
    Hum. Mutat. 15:332-339(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AN 37-ARG--PRO-39 DEL, VARIANT ASP-387.
  29. "PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation."
    Malandrini A., Mari F., Palmeri S., Gambelli S., Berti G., Bruttini M., Bardelli A.M., Williamson K., van Heyningen V., Renieri A.
    Clin. Genet. 60:151-154(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AN ARG-119.
  30. "Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function."
    Singh S., Chao L.-Y., Mishra R., Davies J., Saunders G.F.
    Hum. Mol. Genet. 10:911-918(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AN GLN-375 AND ARG-422.
  31. "National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology."
    Morrison D., FitzPatrick D., Hanson I., Williamson K., van Heyningen V., Fleck B., Jones I., Chalmers J., Campbell H.
    J. Med. Genet. 39:16-22(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AN THR-242.
  32. "Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations."
    Azuma N., Yamaguchi Y., Handa H., Tadokoro K., Asaka A., Kawase E., Yamada M.
    Am. J. Hum. Genet. 72:1565-1570(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MORNING GLORY DISK ANOMALY SER-68, VARIANT COAD SER-258, VARIANT PETAN PRO-363, VARIANTS BONH ILE-292; ARG-378; VAL-381 AND ALA-391.
  33. "Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects."
    Vincent M.-C., Pujo A.-L., Olivier D., Calvas P.
    Eur. J. Hum. Genet. 11:163-169(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AN PRO-19 AND 22-PRO--ARG-26 DEL.
  34. "Missense mutations in the DNA-binding region and termination codon in PAX6."
    Chao L.-Y., Mishra R., Strong L.C., Saunders G.F.
    Hum. Mutat. 21:138-145(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AN ARG-46; ARG-52; THR-56; ASP-73 AND LYS-87, VARIANT THR-321, CHARACTERIZATION OF VARIANTS AN ARG-46; ARG-52; LEU-53; THR-56 AND ASP-73, CHARACTERIZATION OF VARIANT THR-321.
  35. Cited for: CHARACTERIZATION OF VARIANT AN THR-242.
  36. "A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation."
    Graziano C., D'Elia A.V., Mazzanti L., Moscano F., Guidelli Guidi S., Scarano E., Turchetti D., Franzoni E., Romeo G., Damante G., Seri M.
    Am. J. Med. Genet. A 143:1802-1805(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN ACAMD.
  37. "Mutation spectrum of PAX6 in Chinese patients with aniridia."
    Zhang X., Wang P., Li S., Xiao X., Guo X., Zhang Q.
    Mol. Vis. 17:2139-2147(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AN ARG-395.

Entry informationi

Entry nameiPAX6_HUMAN
AccessioniPrimary (citable) accession number: P26367
Secondary accession number(s): Q6N006, Q99413
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: July 15, 1999
Last modified: October 29, 2014
This is version 178 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3