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P26367

- PAX6_HUMAN

UniProt

P26367 - PAX6_HUMAN

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
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    • History
      Entry version 177 (01 Oct 2014)
      Sequence version 2 (15 Jul 1999)
      Previous versions | rss
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    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. DNA binding Source: ProtInc
    3. double-stranded DNA binding Source: Ensembl
    4. histone acetyltransferase binding Source: BHF-UCL
    5. protein binding Source: IntAct
    6. protein kinase binding Source: BHF-UCL
    7. RNA polymerase II core promoter sequence-specific DNA binding Source: BHF-UCL
    8. R-SMAD binding Source: BHF-UCL
    9. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: BHF-UCL
    10. sequence-specific DNA binding transcription factor activity Source: ProtInc
    11. transcription factor binding Source: BHF-UCL
    12. 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. salivary gland morphogenesis Source: Ensembl
    46. signal transduction involved in regulation of gene expression Source: Ensembl
    47. smoothened signaling pathway Source: Ensembl
    48. transcription from RNA polymerase II promoter Source: BHF-UCL
    49. type B pancreatic cell differentiation Source: Ensembl
    50. visual perception Source: ProtInc

    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

    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. 1 Publication
    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 of iris choroid and retina (COI) [MIM:120200]: 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 of ocular coloboma 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 COI; 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

    ArrayExpressiP26367.
    BgeeiP26367.
    CleanExiHS_PAX6.
    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.
    HOVERGENiHBG009115.
    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

    MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN    50
    GCVSKILGRY YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW 100
    EIRDRLLSEG VCTNDNIPSV SSINRVLRNL ASEKQQMGAD GMYDKLRMLN 150
    GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ EGGGENTNSI SSNGEDSDEA 200
    QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR ERLAAKIDLP 250
    EARIQVWFSN RRAKWRREEK LRNQRRQASN TPSHIPISSS FSTSVYQPIP 300
    QPTTPVSSFT SGSMLGRTDT ALTNTYSALP PMPSFTMANN LPMQPPVPSQ 350
    TSSYSCMLPT SPSVNGRSYD TYTPPHMQTH MNSQPMGTSG TTSTGLISPG 400
    VSVPVQVPGS EPDMSQYWPR LQ 422
    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. 1 Publication
    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 COI; 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]
    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 ]
    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.
    HOVERGENi HBG009115.
    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

    ArrayExpressi P26367.
    Bgeei P26367.
    CleanExi HS_PAX6.
    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

    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 COI 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 1, 2014
    This is version 177 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