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FLASH GENE
Symbol PAX1 contributors: - updated : 22-11-2005
HGNC name paired box gene 1
HGNC id 8615
Location 20p11.2      Physical location : 21.686.296 - 21.696.620
Synonym name paired domain gene HuP48
Synonym symbol(s) HUP48
DNA
TYPE functioning gene
STRUCTURE 8.00 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Map pter - D20S5 - PAX1 - D20Z1 - D20S93 - qter
Authors Stapleton (93)
Physical map
RPL12L3 20p11.22 ribosomal protein L12-like 3 RIN2 20p11.22 Ras and Rab interactor 2 NAT5 20p11.22 N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae) CRNKL1 20q12 Crn, crooked neck-like 1 (Drosophila) C20orf26 20p11.23 chromosome 20 open reading frame 26 RPL17P1 20p11.2 ribosomal protein L17 pseudogene 1 INSM1 20p11.21 insulinoma-associated 1 KIAA1272 20p11.22 KIAA1272 protein MRPS11P1 20p11.22 KIAA1272 protein LOC388791 20 LOC388791 C20orf19 20pter-q11.23 chromosome 20 open reading frame 19 RPS15AP1 20p11.22 ribosomal protein S15a pseudogene 1 XRN2 20p11.2-p11.1 5'-3' exoribonuclease 2 LOC391233 20 similar to Homeobox protein Nkx-2.4 (Homeobox protein NKX2.4) (Homeobox protein NK-2 homolog D) GSTM3P 20p11.22 glutathione S-transferase M3 pseudogene NKX2-2 20p11.22 NK2 transcription factor related, locus 2 (Drosophila) LOC388792 20 LOC388792 PAX1 20p11.2 paired box gene 1 SLC25A6P1 20p11 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6, pseudogene 1 RPL41P1 20p11.23-p11.21 ribosomal protein L41, pseudogene 1 ST13P 20p11.22 suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene C20orf56 20 chromosome 20 open reading frame 56 FOXA2 20p11 forkhead box A2 KRT18P3 Xq21 keratin 18 pseudogene 3 CYB5P4 20p11.2 cytochrome b-5 pseudogene 4 SSTR4 20p11.2 somatostatin receptor 4 THBD 20p11.2 thrombomodulin C1QR1 20pter-p12-3 complement component 1, q subcomponent, receptor 1 LOC200261 20p11.22 hypothetical protein LOC200261 NXT1 20p12-p11.2 NTF2-like export factor 1 LOC149913 20p11.21 hypothetical LOC149913 ZNF336 20p12.3-p11.21 zinc finger protein 336 NAPB 20p12.3-p11.21 N-ethylmaleimide-sensitive factor attachment protein, beta CSTL1 20p11.21 cystatin-like 1 CST11 20p11.21 cystatin 11
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemuterus   
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo
Text sclerotome
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a paired box homologous protein domain
  • an homeo domain, comprising two structurally distinct N terminal (NTS)and C terminal subdomains
  • a truncated helix-turn helix DNA binding domain
  • an octapeptide motif
  • HOMOLOGY
    intraspecies homolog to undulated
    Homologene
    FAMILY paired domain family of nuclear transcription activators
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • controlling chondrogenesis through SHH signaling
  • involved in in the formation of segmented structures of the embryo and development of vertebral column
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding (homeodomain)
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Klippel-Feil syndrome and other vertebral malformations
    Variant & Polymorphism SNP may be SNP increasing the risk of vertebral malformations
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS