• Gene id: 5075

Gene Summary

• Gene Symbol: PAX1   Gene   UCSC   Ensembl
• Aliases: HUP48, OFC2
• Gene name: paired box 1
• Alternate names: paired box protein Pax-1, paired box gene 1, paired domain gene HuP48,
• Gene location: 20p11.22 (21705658: 21718485)     Exons: 5     NC_000020.11
• Gene summary(Entrez): This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role
• OMIM: 167411

Protein Summary

• Protein general information: P15863  
  • Name: Paired box protein Pax 1 (HuP48)
  • Length: 534  
  • Mass: 55499
• Sequence:

  MKFTLGLGSRAWRVSWEGAAAAAAGPGAGGSALRCRAQRVSSPRLGRRGSRLSGALPLCLSRGGGGAQALPDCAG
  PSPGHPGHPGARQLAGPLAMEQTYGEVNQLGGVFVNGRPLPNAIRLRIVELAQLGIRPCDISRQLRVSHGCVSKI
  LARYNETGSILPGAIGGSKPRVTTPNVVKHIRDYKQGDPGIFAWEIRDRLLADGVCDKYNVPSVSSISRILRNKI
  GSLAQPGPYEASKQPPSQPTLPYNHIYQYPYPSPVSPTGAKMGSHPGVPGTAGHVSIPRSWPSAHSVSNILGIRT
  FMEQTGALAGSEGTAYSPKMEDWAGVNRTAFPATPAVNGLEKPALEADIKYTQSASTLSAVGGFLPACAYPASNQ
  HGVYSAPGGGYLAPGPPWPPAQGPPLAPPGAGVAVHGGELAAAMTFKHPSREGSLPAPAARPRTPSVAYTDCPSR
  PRPPRGSSPRTRARRERQADPGAQVCAAAPAIGTGRIGGLAEEEASAGPRGARPASPQAQPCLWPDPPHFLYWSG
  FLGFSELGF

• Structural information:
  • Interpro: IPR009057  IPR001523  IPR033206  IPR036388  
  • Prosite: PS00034 PS51057
  • CDD: cd00131
  • STRING: ENSP00000381499
• Other Databases: GeneCards:  PAX1  Malacards:  PAX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0061056	sclerotome development	IEA	biological process
GO:0060017	parathyroid gland development	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0043367	CD4-positive, alpha-beta T cell differentiation	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0060349	bone morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043374	CD8-positive, alpha-beta T cell differentiation	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
OFC syndrome	KEGG:H02046
OFC syndrome	KEGG:H02046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray