Details for: PAX1

Gene ID: 5075

Symbol: PAX1

Ensembl ID: ENSG00000125813

Description: paired box 1

Associated with

  • Chromatin
    (GO:0000785)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Embryo development ending in birth or egg hatching
    (GO:0009792)
  • Nucleus
    (GO:0005634)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii cis-regulatory region sequence-specific dna binding
    (GO:0000978)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Skeletal system development
    (GO:0001501)
  • Transcription by rna polymerase ii
    (GO:0006366)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 7.1164
    Cell Significance Index: 54.7200
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 6.6502
    Cell Significance Index: 55.0000
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.8956
    Cell Significance Index: 15.3100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.6261
    Cell Significance Index: 13.1100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.5969
    Cell Significance Index: 9.4700
  • Cell Name: colon endothelial cell (CL1001572)
    Fold Change: 0.5765
    Cell Significance Index: 0.4400
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.4896
    Cell Significance Index: 5.0500
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.1536
    Cell Significance Index: 1.6800
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 0.1211
    Cell Significance Index: 1.1000
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.0077
    Cell Significance Index: 0.0800
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.0031
    Cell Significance Index: 0.0300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: 0.0027
    Cell Significance Index: 0.1100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0015
    Cell Significance Index: -2.7500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0019
    Cell Significance Index: -0.8800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0028
    Cell Significance Index: -1.6000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0029
    Cell Significance Index: -2.1300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0032
    Cell Significance Index: -0.5500
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.0034
    Cell Significance Index: -0.0200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0036
    Cell Significance Index: -2.7600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0049
    Cell Significance Index: -0.1600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0087
    Cell Significance Index: -2.5100
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0100
    Cell Significance Index: -0.2000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0132
    Cell Significance Index: -2.6500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0148
    Cell Significance Index: -1.6900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0154
    Cell Significance Index: -0.2200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0170
    Cell Significance Index: -2.3400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0183
    Cell Significance Index: -0.9500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0184
    Cell Significance Index: -2.1500
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.0188
    Cell Significance Index: -0.2700
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0229
    Cell Significance Index: -0.3000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0258
    Cell Significance Index: -3.3300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0323
    Cell Significance Index: -0.8800
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.0330
    Cell Significance Index: -0.3200
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.0343
    Cell Significance Index: -0.4700
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.0363
    Cell Significance Index: -0.4700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0370
    Cell Significance Index: -1.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0385
    Cell Significance Index: -2.5900
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0414
    Cell Significance Index: -0.8100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0431
    Cell Significance Index: -1.2000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0435
    Cell Significance Index: -3.2400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0478
    Cell Significance Index: -2.4900
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: -0.0498
    Cell Significance Index: -0.4800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0527
    Cell Significance Index: -2.9600
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0533
    Cell Significance Index: -1.0500
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0543
    Cell Significance Index: -0.5900
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.0544
    Cell Significance Index: -0.7400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0549
    Cell Significance Index: -2.4900
  • Cell Name: neutrophil (CL0000775)
    Fold Change: -0.0560
    Cell Significance Index: -0.7000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0578
    Cell Significance Index: -1.5500
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.0588
    Cell Significance Index: -0.3600
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.0605
    Cell Significance Index: -0.7000
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0615
    Cell Significance Index: -1.0600
  • Cell Name: stromal cell (CL0000499)
    Fold Change: -0.0646
    Cell Significance Index: -0.6600
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.0648
    Cell Significance Index: -0.4300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0649
    Cell Significance Index: -1.6200
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0673
    Cell Significance Index: -1.0800
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0681
    Cell Significance Index: -0.8600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0697
    Cell Significance Index: -3.2800
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.0710
    Cell Significance Index: -0.9000
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0712
    Cell Significance Index: -0.8600
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0724
    Cell Significance Index: -0.8200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0730
    Cell Significance Index: -0.8300
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0777
    Cell Significance Index: -1.9800
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0780
    Cell Significance Index: -1.0400
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0784
    Cell Significance Index: -1.2700
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0794
    Cell Significance Index: -1.0700
  • Cell Name: granulocyte (CL0000094)
    Fold Change: -0.0796
    Cell Significance Index: -0.9600
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: -0.0809
    Cell Significance Index: -0.8000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0832
    Cell Significance Index: -2.4500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0841
    Cell Significance Index: -2.4000
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: -0.0876
    Cell Significance Index: -0.8900
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.0889
    Cell Significance Index: -0.9500
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0908
    Cell Significance Index: -0.9400
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: -0.0927
    Cell Significance Index: -0.9600
  • Cell Name: myoblast (CL0000056)
    Fold Change: -0.0957
    Cell Significance Index: -0.9400
  • Cell Name: stem cell (CL0000034)
    Fold Change: -0.0991
    Cell Significance Index: -0.7200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0994
    Cell Significance Index: -2.4800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1004
    Cell Significance Index: -2.6400
  • Cell Name: promonocyte (CL0000559)
    Fold Change: -0.1021
    Cell Significance Index: -1.0900
  • Cell Name: L5/6 near-projecting glutamatergic neuron of the primary motor cortex (CL4023043)
    Fold Change: -0.1039
    Cell Significance Index: -1.0500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1048
    Cell Significance Index: -3.0100
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: -0.1052
    Cell Significance Index: -0.9400
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: -0.1062
    Cell Significance Index: -1.1000
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: -0.1067
    Cell Significance Index: -1.1100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1101
    Cell Significance Index: -2.9400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1114
    Cell Significance Index: -2.4400
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -0.1144
    Cell Significance Index: -0.7300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.1160
    Cell Significance Index: -2.8100
  • Cell Name: neuroplacodal cell (CL0000032)
    Fold Change: -0.1169
    Cell Significance Index: -1.4400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1183
    Cell Significance Index: -2.5100
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: -0.1183
    Cell Significance Index: -0.9400
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.1190
    Cell Significance Index: -1.6500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1201
    Cell Significance Index: -2.8800
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.1219
    Cell Significance Index: -0.7600
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1221
    Cell Significance Index: -2.9800
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: -0.1224
    Cell Significance Index: -1.0900
  • Cell Name: megakaryocyte progenitor cell (CL0000553)
    Fold Change: -0.1238
    Cell Significance Index: -0.8900
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: -0.1244
    Cell Significance Index: -1.1100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1253
    Cell Significance Index: -2.6000
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: -0.1262
    Cell Significance Index: -1.4700

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.

Other Information

**Key Characteristics:** 1. **Paired Box Domain:** PAX1 contains a characteristic paired box domain, which is a conserved DNA-binding motif that allows the protein to interact with specific DNA sequences. 2. **DNA-Binding Specificity:** PAX1 has a high degree of specificity for binding to certain DNA sequences, including those involved in the regulation of transcription by RNA polymerase II. 3. **Transcriptional Regulation:** PAX1 functions as a transcription factor, regulating the expression of target genes involved in various cellular processes, including cell growth, differentiation, and survival. 4. **Cellular Expression:** PAX1 is expressed in a wide range of cell types, including microglial cells, endothelial cells, thymic epithelial cells, goblet cells, and intestinal crypt stem cells. **Pathways and Functions:** 1. **Anatomical Structure Development:** PAX1 is involved in the development of various anatomical structures, including the skeletal system, nervous system, and immune system. 2. **Chromatin Remodeling:** PAX1 regulates chromatin structure and dynamics, influencing the accessibility of DNA to transcription factors and other regulatory proteins. 3. **RNA Polymerase II-Regulated Transcription:** PAX1 interacts with RNA polymerase II to regulate transcriptional activity, influencing the expression of target genes involved in cell growth, differentiation, and survival. 4. **Cell Signaling and Communication:** PAX1 is involved in cell signaling and communication pathways, influencing the behavior of cells in response to various stimuli. **Clinical Significance:** 1. **Cancer and Tumor Development:** Altered expression or mutations in the PAX1 gene have been associated with various types of cancer, including lymphomas, leukemias, and solid tumors. 2. **Immune System Dysregulation:** PAX1 plays a critical role in the development and function of the immune system, and alterations in its expression have been linked to autoimmune diseases and immune system dysregulation. 3. **Neurological Disorders:** PAX1 has been implicated in the development and progression of various neurological disorders, including Alzheimer's disease, Parkinson's disease, and autism spectrum disorder. 4. **Developmental Abnormalities:** PAX1 mutations or alterations in its expression have been associated with developmental abnormalities, including congenital heart defects, neural tube defects, and skeletal abnormalities. In conclusion, the PAX1 gene is a critical regulator of developmental processes and tissue homeostasis, playing a key role in the development and maintenance of various tissues and organs. Its dysregulation or mutations have been linked to various diseases and disorders, highlighting the importance of PAX1 in human health and disease.

Genular Protein ID: 219614069

Symbol: PAX1_HUMAN

Name: Paired box protein Pax-1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

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: 2501086

Title: Conservation of the paired domain in metazoans and its structure in three isolated human genes.

PubMed ID: 2501086

DOI: 10.1002/j.1460-2075.1989.tb03490.x

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 8863157

Title: PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.

PubMed ID: 8863157

DOI: 10.1136/jmg.33.8.655

PubMed ID: 23851939

Title: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.

PubMed ID: 23851939

DOI: 10.1007/s00439-013-1337-9

Sequence Information:

  • Length: 534
  • Mass: 55499
  • Checksum: 6B06A2AD302FDEEA
  • Sequence:
  • MKFTLGLGSR AWRVSWEGAA AAAAGPGAGG SALRCRAQRV SSPRLGRRGS RLSGALPLCL 
    SRGGGGAQAL PDCAGPSPGH PGHPGARQLA GPLAMEQTYG EVNQLGGVFV NGRPLPNAIR 
    LRIVELAQLG IRPCDISRQL RVSHGCVSKI LARYNETGSI LPGAIGGSKP RVTTPNVVKH 
    IRDYKQGDPG IFAWEIRDRL LADGVCDKYN VPSVSSISRI LRNKIGSLAQ PGPYEASKQP 
    PSQPTLPYNH IYQYPYPSPV SPTGAKMGSH PGVPGTAGHV SIPRSWPSAH SVSNILGIRT 
    FMEQTGALAG SEGTAYSPKM EDWAGVNRTA FPATPAVNGL EKPALEADIK YTQSASTLSA 
    VGGFLPACAY PASNQHGVYS APGGGYLAPG PPWPPAQGPP LAPPGAGVAV HGGELAAAMT 
    FKHPSREGSL PAPAARPRTP SVAYTDCPSR PRPPRGSSPR TRARRERQAD PGAQVCAAAP 
    AIGTGRIGGL AEEEASAGPR GARPASPQAQ PCLWPDPPHF LYWSGFLGFS ELGF

Genular Protein ID: 2429421024

Symbol: A0A087WXV5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

Sequence Information:

  • Length: 457
  • Mass: 47225
  • Checksum: AC4241091EEFCF9C
  • Sequence:
  • MKFTLGLGSR AWRVSWEGAA AAAAGPGAGG SALRCRAQRV SSPRLGRRGS RLSGALPLCL 
    SRGGGGAQAL PDCAGPSPGH PGHPGARQLA GPLAMEQTYG EVNQLGGVFV NGRPLPNAIR 
    LRIVELAQLG IRPCDISRQL RVSHGCVSKI LARYNETGSI LPGAIGGSKP RVTTPNVVKH 
    IRDYKQGDPG IFAWEIRDRL LADGVCDKYN VPSVSSISRI LRNKIGSLAQ PGPYEASKQP 
    PSQPTLPYNH IYQYPYPSPV SPTGAKMGSH PGVPGTAGHV SIPRSWPSAH SVSNILGIRT 
    FMEQTGALAG SEGTAYSPKM EDWAGVNRTA FPATPAVNGL EKPALEADIK YTQSASTLSA 
    VGGFLPACAY PASNQHGVYS APGGGYLAPG PPWPPAQGPP LAPPGAGVAV HGGELAAAMT 
    FKHPSREVAD RKPPSSGSKA PDALSSLHGL PIPASTS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.