Details for: PAX6

Gene ID: 5080

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: PAX6

Ensembl ID: ENSG00000007372

Description: paired box 6

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • pancreatic A cell CL0000171
    CSI 29.25
    rCSI 30.64%
    PRS 95.96
  • conjunctival epithelial cell CL1000432
    CSI 21.49
    rCSI 32.83%
    PRS 94.35
  • pancreatic D cell CL0000173
    CSI 19.17
    rCSI 18.86%
    PRS 95.9
  • amacrine cell CL0000561
    CSI 16.14
    rCSI 46.78%
    PRS 89.57
  • retinal ganglion cell CL0000740
    CSI 14.08
    rCSI 31.11%
    PRS 88.3
  • type B pancreatic cell CL0000169
    CSI 14.08
    rCSI 31.16%
    PRS 95.15
  • corneal epithelial cell CL0000575
    CSI 12.51
    rCSI 35.78%
    PRS 95.43
  • glycinergic amacrine cell CL4030028
    CSI 12.25
    rCSI 31.9%
    PRS 90.46
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 11.37
    rCSI 13.13%
    PRS 89.82
  • pancreatic PP cell CL0002275
    CSI 11.05
    rCSI 43.97%
    PRS 96.16
  • Bergmann glial cell CL0000644
    CSI 10.98
    rCSI 15.03%
    PRS 90.2
  • GABAergic amacrine cell CL4030027
    CSI 10.87
    rCSI 37.25%
    PRS 85.9
  • radial glial cell CL0000681
    CSI 10.66
    rCSI 14.81%
    PRS 94.07
  • forebrain radial glial cell CL0013000
    CSI 10.63
    rCSI 34.11%
    PRS 94.88
  • retina horizontal cell CL0000745
    CSI 10.19
    rCSI 15.54%
    PRS 93.05
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 10.14
    rCSI 17.91%
    PRS 86.79
  • choroid plexus epithelial cell CL0000706
    CSI 9.95
    rCSI 16.29%
    PRS 90.81
  • Mueller cell CL0000636
    CSI 9.51
    rCSI 21.7%
    PRS 91.21
  • progenitor cell CL0011026
    CSI 9.28
    rCSI 19.73%
    PRS 90.67
  • enteroendocrine cell CL0000164
    CSI 9.17
    rCSI 12.53%
    PRS 93.31
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 8.47
    rCSI 10.87%
    PRS 92.6
  • interneuron CL0000099
    CSI 7.97
    rCSI 16%
    PRS 91.91
  • neural progenitor cell CL0011020
    CSI 7.36
    rCSI 32.4%
    PRS 86.93
  • glioblast CL0000030
    CSI 7.06
    rCSI 11.26%
    PRS 89.9
  • cerebellar granule cell CL0001031
    CSI 7.04
    rCSI 10.35%
    PRS 91.95
  • cerebral cortex GABAergic interneuron CL0010011
    CSI 6.83
    rCSI 20.16%
    PRS 95.19
  • astrocyte of the cerebral cortex CL0002605
    CSI 6.78
    rCSI 15.19%
    PRS 87.49
  • H2 horizontal cell CL0004218
    CSI 5.77
    rCSI 28.67%
    PRS 91.15
  • basal cell CL0000646
    CSI 5.66
    rCSI 7.57%
    PRS 93.12
  • secretory cell CL0000151
    CSI 5.61
    rCSI 5.85%
    PRS 94.46
  • type L enteroendocrine cell CL0002279
    CSI 4.9
    rCSI 9.19%
    PRS 95.37
  • basal cell of epidermis CL0002187
    CSI 4.58
    rCSI 8.12%
    PRS 71.41
  • H1 horizontal cell CL0004217
    CSI 4.5
    rCSI 17.83%
    PRS 90.68
  • chondrocyte CL0000138
    CSI 4.22
    rCSI 6.72%
    PRS 92.18
  • squamous epithelial cell CL0000076
    CSI 4.18
    rCSI 9.92%
    PRS 91.9
  • starburst amacrine cell CL0004232
    CSI 3.81
    rCSI 32.08%
    PRS 83.99
  • glial cell CL0000125
    CSI 3.27
    rCSI 12.47%
    PRS 90.6
  • enteroendocrine cell of small intestine CL0009006
    CSI 3
    rCSI 6.61%
    PRS 95.86
  • macroglial cell CL0000126
    CSI 2.69
    rCSI 6.92%
    PRS 92.26
  • retinal pigment epithelial cell CL0002586
    CSI 2.46
    rCSI 4.88%
    PRS 92.83
  • OFF midget ganglion cell CL4033047
    CSI 2.21
    rCSI 45.01%
    PRS 89.23
  • enteroendocrine cell of colon CL0009042
    CSI 2.05
    rCSI 9.59%
    PRS 95.29
  • ON parasol ganglion cell CL4033052
    CSI 2.04
    rCSI 28.93%
    PRS 89.51
  • ON midget ganglion cell CL4033046
    CSI 2.02
    rCSI 41.17%
    PRS 88.81
  • cerebellar neuron CL1001611
    CSI 1.69
    rCSI 14.9%
    PRS 86.48
  • retinal cone cell CL0000573
    CSI 1.33
    rCSI 2.15%
    PRS 89.55

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.
Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

Loading network (please wait)...

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [PAX6](/details-gene/5080) is a highly conserved transcription factor belonging to the paired box family of proteins, located on human chromosome 11p13. It functions as a master regulator in embryonic development, playing an indispensable role in the formation of the eyes, central nervous system, and pancreas. The expression profile of [PAX6](/details-gene/5080) is characterized by high significance in specialized cell types such as [pancreatic A cells](/details-cell/CL0000171), [conjunctival epithelial cells](/details-cell/CL1000432), and various retinal neurons, including [amacrine cells](/details-cell/CL0000561) and [retinal ganglion cells](/details-cell/CL0000740). Clinically, mutations in this gene are well-established as the primary cause of aniridia, a congenital eye disorder characterized by the absence of the iris ([Link](https://doi.org/10.1093/hmg/2.7.915)), as well as other anterior segment malformations ([106210](https://omim.org/entry/106210)). ## Cellular Roles and Expression Landscape **Overall**, the expression landscape of [PAX6](/details-gene/5080) highlights its fundamental role in the specification and maintenance of distinct cell lineages, primarily within ocular, pancreatic, and neural tissues. The gene shows its highest significance in endocrine cells of the pancreas, including [pancreatic A cells](/details-cell/CL0000171) (CSI: 29.25), [pancreatic D cells](/details-cell/CL0000173) (CSI: 19.17), [type B pancreatic cells](/details-cell/CL0000169) (CSI: 14.08), and [pancreatic PP cells](/details-cell/CL0002275) (CSI: 11.05). This pattern suggests that [PAX6](/details-gene/5080) is a central transcriptional node governing the identity and function of the islets of Langerhans. Concurrently, [PAX6](/details-gene/5080) is a defining marker for multiple cell types within the eye. It is highly significant in epithelial tissues, such as [conjunctival epithelial cells](/details-cell/CL1000432) (CSI: 21.49) and [corneal epithelial cells](/details-cell/CL0000575) (CSI: 12.51), which is consistent with its known role in corneal development ([Link](https://pubmed.ncbi.nlm.nih.gov/7668281/)). Furthermore, its strong signal in diverse retinal neurons, including [amacrine cells](/details-cell/CL0000561) (CSI: 16.14) and [retinal ganglion cells](/details-cell/CL0000740) (CSI: 14.08), underscores its importance in retinal neurogenesis and circuit formation. The gene's role in neurodevelopment is further supported by its significant expression in progenitor cells like [neuroblasts (sensu Nematoda and Protostomia)](/details-cell/CL0000338) (CSI: 11.37) and [radial glial cells](/details-cell/CL0000681) (CSI: 10.66), indicating its function in orchestrating cell fate decisions during the formation of the central nervous system. ## Pathways and Molecular Function As a DNA-binding transcription factor, the primary molecular function of [PAX6](/details-gene/5080) is to regulate gene expression by binding to specific DNA sequences in the regulatory regions of its target genes ([GO:0000981](https://www.ebi.ac.uk/QuickGO/term/GO:0000981)). It operates within the nucleus and can interact with chromatin to modulate transcriptional activity ([GO:0000785](https://www.ebi.ac.uk/QuickGO/term/GO:0000785)). The biological processes associated with [PAX6](/details-gene/5080) align directly with its cellular expression pattern. It is extensively involved in developmental pathways, including `Eye development` ([GO:0001654](https://www.ebi.ac.uk/QuickGO/term/GO:0001654)), `Central nervous system development` ([GO:0007417](https://www.ebi.ac.uk/QuickGO/term/GO:0007417)), and `Brain development` ([GO:0007420](https://www.ebi.ac.uk/QuickGO/term/GO:0007420)). Its role in the pancreas is supported by its participation in `Type B pancreatic cell differentiation` ([GO:0003309](https://www.ebi.ac.uk/QuickGO/term/GO:0003309)) and `Glucose homeostasis` ([GO:0042593](https://www.ebi.ac.uk/QuickGO/term/GO:0042593)). Reactome pathway analysis further corroborates these roles, placing [PAX6](/details-gene/5080) within the high-level `Developmental biology` pathway ([R-HSA-1266738](https://reactome.org/content/detail/R-HSA-1266738)) and more specific processes like `Regulation of beta-cell development` ([R-HSA-186712](https://reactome.org/content/detail/R-HSA-186712)). Its function extends from broad `Animal organ morphogenesis` ([GO:0009887](https://www.ebi.ac.uk/QuickGO/term/GO:0009887)) to the fine-tuning of cell fate, such as the `Commitment of neuronal cell to specific neuron type in forebrain` ([GO:0021902](https://www.ebi.ac.uk/QuickGO/term/GO:0021902)). ## Research Directions The well-established role of [PAX6](/details-gene/5080) as a master developmental regulator provides a foundation for more nuanced investigations into its function in cellular homeostasis and disease. **Proposed Hypotheses:** 1. Given its high expression across multiple endocrine cell types in the pancreatic islets and its link to `Glucose homeostasis` ([GO:0042593](https://www.ebi.ac.uk/QuickGO/term/GO:0042593)), [PAX6](/details-gene/5080) may function not only in islet development but also as a key coordinator of the mature islet's transcriptional response to metabolic cues, dynamically regulating the expression of glucagon, insulin, and somatostatin to maintain glucose balance. 2. The sustained high expression of [PAX6](/details-gene/5080) in terminally differentiated retinal neurons, such as [amacrine cells](/details-cell/CL0000561), suggests a role beyond initial cell fate specification. It is hypothesized that [PAX6](/details-gene/5080) is continuously required to maintain the specific transcriptional programs that define the functional identity and synaptic connectivity of these interneurons in the adult retina. **Experimental Approach:** To test the first hypothesis regarding the role of [PAX6](/details-gene/5080) in mature islet function, a conditional knockout mouse model could be employed (e.g., using an inducible Cre-recombinase system like *Pdx1-CreERT2;Pax6-flox/flox* to allow for gene deletion in adult pancreatic cells). Islets would be isolated from control and knockout mice and subjected to *ex vivo* glucose-stimulated hormone secretion assays. Furthermore, single-cell RNA-sequencing (scRNA-seq) could be performed on these islets after challenging them with low and high glucose conditions to determine if the loss of [PAX6](/details-gene/5080) disrupts the glucose-responsive transcriptional networks in alpha and beta cells. **Therapeutic Potential:** [PAX6](/details-gene/5080) is a challenging therapeutic target due to its role as a transcription factor with pleiotropic effects and a high sensitivity to gene dosage (haploinsufficiency causes disease). Direct inhibition would likely be detrimental. Instead, therapeutic strategies would focus on gene restoration or activation. For ocular conditions like aniridia-related keratitis, *ex vivo* gene therapy to correct [PAX6](/details-gene/5080) levels in cultured corneal stem cells before transplantation could be a viable long-term strategy. However, the complexity of precisely regulating its expression makes it a difficult target for conventional small-molecule drugs or antibody-based therapies.

Genular Protein ID: 834262227

Symbol: PAX6_HUMAN

Name: Paired box protein Pax-6

UniProtKB Accession Codes:

P26367 Q6N006 Q99413

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 15 EvolutionaryTrace 1 ExpressionAtlas 1 GO 98 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 17 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 13 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRINTS 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 5 RefSeq 7 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1684738

Title: Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region.

PubMed ID: 1684738

DOI: 10.1016/0092-8674(91)90284-6

PubMed ID: 1345175

Title: Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.

PubMed ID: 1345175

DOI: 10.1038/ng1192-232

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7958875

Title: Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing.

PubMed ID: 7958875

DOI: 10.1101/gad.8.17.2022

PubMed ID: 7668281

Title: Mutation of the PAX6 gene in patients with autosomal dominant keratitis.

PubMed ID: 7668281

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19414065

Title: Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina.

PubMed ID: 19414065

DOI: 10.1016/j.ijdevneu.2009.04.004

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 24290376

Title: Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.

PubMed ID: 24290376

DOI: 10.1016/j.ajhg.2013.10.028

PubMed ID: 10346815

Title: 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.

PubMed ID: 10346815

DOI: 10.1101/gad.13.10.1263

PubMed ID: 9482572

Title: PAX6 mutations reviewed.

PubMed ID: 9482572

DOI: 10.1002/(sici)1098-1004(1998)11:2<93::aid-humu1>3.0.co;2-m

PubMed ID: 8364574

Title: PAX6 mutations in aniridia.

PubMed ID: 8364574

DOI: 10.1093/hmg/2.7.915

PubMed ID: 8162071

Title: Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.

PubMed ID: 8162071

DOI: 10.1038/ng0294-168

PubMed ID: 8640214

Title: PAX6 missense mutation in isolated foveal hypoplasia.

PubMed ID: 8640214

DOI: 10.1038/ng0696-141

PubMed ID: 9147640

Title: Functional analysis of paired box missense mutations in the PAX6 gene.

PubMed ID: 9147640

DOI: 10.1093/hmg/6.3.381

PubMed ID: 9281415

Title: Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations.

PubMed ID: 9281415

DOI: 10.1006/mcpr.1997.0117

PubMed ID: 9792406

Title: Ten novel mutations found in Aniridia.

PubMed ID: 9792406

DOI: 10.1002/(sici)1098-1004(1998)12:5<304::aid-humu3>3.0.co;2-d

PubMed ID: 9538891

Title: Missense mutation at the C-terminus of the PAX6 gene in ocular anterior segment anomalies.

PubMed ID: 9538891

PubMed ID: 9856761

Title: Missense mutations in the PAX6 gene in aniridia.

PubMed ID: 9856761

PubMed ID: 10441571

Title: Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.

PubMed ID: 10441571

DOI: 10.1086/302529

PubMed ID: 10234503

Title: Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

PubMed ID: 10234503

DOI: 10.1038/sj.ejhg.5200308

PubMed ID: 9931324

Title: Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

PubMed ID: 9931324

DOI: 10.1093/hmg/8.2.165

PubMed ID: 10955655

Title: A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia.

PubMed ID: 10955655

DOI: 10.1007/s004170000124

PubMed ID: 10737978

Title: Mutation in the PAX6 gene in twenty patients with aniridia.

PubMed ID: 10737978

DOI: 10.1002/(sici)1098-1004(200004)15:4<332::aid-humu5>3.0.co;2-1

PubMed ID: 11553050

Title: PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.

PubMed ID: 11553050

DOI: 10.1034/j.1399-0004.2001.600210.x

PubMed ID: 11309364

Title: Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

PubMed ID: 11309364

DOI: 10.1093/hmg/10.9.911

PubMed ID: 11826019

Title: National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

PubMed ID: 11826019

DOI: 10.1136/jmg.39.1.16

PubMed ID: 12721955

Title: Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

PubMed ID: 12721955

DOI: 10.1086/375555

PubMed ID: 12634864

Title: Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

PubMed ID: 12634864

DOI: 10.1038/sj.ejhg.5200940

PubMed ID: 12552561

Title: Missense mutations in the DNA-binding region and termination codon in PAX6.

PubMed ID: 12552561

DOI: 10.1002/humu.10163

PubMed ID: 16493447

Title: Molecular analysis of a human PAX6 homeobox mutant.

PubMed ID: 16493447

DOI: 10.1038/sj.ejhg.5201579

PubMed ID: 17595013

Title: A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

PubMed ID: 17595013

DOI: 10.1002/ajmg.a.31808

PubMed ID: 21850189

Title: Mutation spectrum of PAX6 in Chinese patients with aniridia.

PubMed ID: 21850189

PubMed ID: 24033328

Title: Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

PubMed ID: 24033328

DOI: 10.1111/cge.12275

PubMed ID: 29914532

Title: Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

PubMed ID: 29914532

DOI: 10.1186/s13023-018-0828-0

Sequence Information:

  • Length: 422
  • Mass: 46683
  • Checksum: C33CDD2C1B13C397
  • Sequence:
    • MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN GCVSKILGRY 
YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW EIRDRLLSEG VCTNDNIPSV 
SSINRVLRNL ASEKQQMGAD GMYDKLRMLN GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ 
EGGGENTNSI SSNGEDSDEA QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR 
ERLAAKIDLP EARIQVWFSN RRAKWRREEK LRNQRRQASN TPSHIPISSS FSTSVYQPIP 
QPTTPVSSFT SGSMLGRTDT ALTNTYSALP PMPSFTMANN LPMQPPVPSQ TSSYSCMLPT 
SPSVNGRSYD TYTPPHMQTH MNSQPMGTSG TTSTGLISPG VSVPVQVPGS EPDMSQYWPR 
LQ

Genular Protein ID: 2620824631

Symbol: A0A1W2PRA8_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A1W2PRA8

Database IDs:

ARBA 5 Antibodypedia 1 Bgee 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 6 GO 4 Gene3D 1 GeneTree 1 HGNC 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 2 RuleBase 1 SAM 1 SMART 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

Sequence Information:

  • Length: 286
  • Mass: 31769
  • Checksum: B21F60204FC01176
  • Sequence:
    • MGADGMYDKL RMLNGQTGSW GTRPGWYPGT SVPGQPTQDG CQQQEGGGEN TNSISSNGED 
SDEAQMRLQL KRKLQRNRTS FTQEQIEALE KEFERTHYPD VFARERLAAK IDLPEARIQV 
WFSNRRAKWR REEKLRNQRR QASNTPSHIP ISSSFSTSVY QPIPQPTTPV SSFTSGSMLG 
RTDTALTNTY SALPPMPSFT MANNLPMQPP VPSQTSSYSC MLPTSPSVNG RSYDTYTPPH 
MQTHMNSQPM GTSGTTSTGL ISPGVSVPVQ VPGSEPDMSQ YWPRLQ

Genular Protein ID: 4212378419

Symbol: F1T0F8_HUMAN

Name: N/A

UniProtKB Accession Codes:

F1T0F8

Database IDs:

ARBA 9 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 ExpressionAtlas 1 GO 73 Gene3D 2 InterPro 6 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 5 PROSITE-ProRule 1 Pfam 2 RefSeq 4 RuleBase 1 SAM 1 SMART 2 SMR 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 21697133

Title: Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.

PubMed ID: 21697133

DOI: 10.1167/iovs.11-7479

Sequence Information:

  • Length: 436
  • Mass: 48218
  • Checksum: 74926827347A20B5
  • Sequence:
    • MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQTHA DAKVQVLDNQ 
NVSNGCVSKI LGRYYETGSI RPRAIGGSKP RVATPEVVSK IAQYKRECPS IFAWEIRDRL 
LSEGVCTNDN IPSVSSINRV LRNLASEKQQ MGADGMYDKL RMLNGQTGSW GTRPGWYPGT 
SVPGQPTQDG CQQQEGGGEN TNSISSNGED SDEAQMRLQL KRKLQRNRTS FTQEQIEALE 
KEFERTHYPD VFARERLAAK IDLPEARIQV WFSNRRAKWR REEKLRNQRR QASNTPSHIP 
ISSSFSTSVY QPIPQPTTPV SSFTSGSMLG RTDTALTNTY SALPPMPSFT MANNLPMQPP 
VPSQTSSYSC MLPTSPSVNG RSYDTYTPPH MQTHMNSQPM GTSGTTSTGL ISPGVSVPVQ 
VPGSEPDMSQ YWPRLQ

Genular Protein ID: 3888642616

Symbol: D1KF47_HUMAN

Name: N/A

UniProtKB Accession Codes:

D1KF47

Database IDs:

ARBA 10 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 GO 3 Gene3D 2 GeneTree 1 HGNC 1 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 1 SMART 2 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19917615

Title: The beta subunit of voltage-gated Ca2+ channels interacts with and regulates the activity of a novel isoform of Pax6.

PubMed ID: 19917615

DOI: 10.1074/jbc.M109.022236

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

Sequence Information:

  • Length: 401
  • Mass: 44315
  • Checksum: FD3875F97EA92EF5
  • Sequence:
    • MQNSHSGVNQ LGGVFVNGRP LPDSTRQKIV ELAHSGARPC DISRILQVSN GCVSKILGRY 
YETGSIRPRA IGGSKPRVAT PEVVSKIAQY KRECPSIFAW EIRDRLLSEG VCTNDNIPSV 
SSINRVLRNL ASEKQQMGAD GMYDKLRMLN GQTGSWGTRP GWYPGTSVPG QPTQDGCQQQ 
EGGGENTNSI SSNGEDSDEA QMRLQLKRKL QRNRTSFTQE QIEALEKEFE RTHYPDVFAR 
ERLAAKIDLP EARIQVWFSN RRAKWRREEK LRNQRRQASN TPSHIPISSS FSTSVYQPIP 
QPTTPVSSFT SGSMLGRTDT ALTNTYSALP PMPSFTMANN LPMQVSAAGG GLHNPGPREV 
RSGSGPADLI GCVCTLESFS HYSDWLDQSS RRQSIPSLLS D