• Gene id: 5626

Gene Summary

• Gene Symbol: PROP1   Gene   UCSC   Ensembl
• Aliases: CPHD2, PROP-1
• Gene name: PROP paired-like homeobox 1
• Alternate names: homeobox protein prophet of Pit-1, pituitary-specific homeodomain factor, prophet of Pit1, paired-like homeodomain transcription factor,
• Gene location: 5q35.3 (177996241: 177992234)     Exons: 3     NC_000005.10
• Gene summary(Entrez): This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone
• OMIM: 601538

Protein Summary

• Protein general information: O75360  
  • Name: Homeobox protein prophet of Pit 1 (PROP 1) (Pituitary specific homeodomain factor)
  • Length: 226  
  • Mass: 24,984
• Sequence:

  MEAERRRQAEKPKKGRVGSNLLPERHPATGTPTTTVDSSAPPCRRLPGAGGGRSRFSPQGGQRGRPHSRRRHRTT
  FSPVQLEQLESAFGRNQYPDIWARESLARDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSPAAFSSFLPES
  TACPYSYAAPPPPVTCFPHPYSHALPSQPSTGGAFALSHQSEDWYPTLHPAPAGHLPCPPPPPMLPLSLEPSKSW
  N

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR000047  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000311290
• Other Databases: GeneCards:  PROP1  Malacards:  PROP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	IEA	molecular function
GO:0001205	transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0001206	transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0001568	blood vessel development	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription factor complex	IEA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0021979	hypothalamus cell differentiation	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0048850	hypophysis morphogenesis	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0060126	somatotropin secreting cell differentiation	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	IEA	molecular function
GO:0001205	transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0001206	transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0001568	blood vessel development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005667	transcription factor complex	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0021979	hypothalamus cell differentiation	IEA	biological process
GO:0021984	adenohypophysis development	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0048732	gland development	IEA	biological process
GO:0048850	hypophysis morphogenesis	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0060126	somatotropin secreting cell differentiation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007417	central nervous system development	TAS	biological process

Diseases

Associated diseases	References
Pituitary hormone deficiency	OMIM: 601538
Pituitary dwarfism	KEGG: H00254
Bone diseases	GAD: 19453261
Delayed puberty	INFBASE: 15941866
Familial central hypogonadism	MIK: 15941866
Cryptorchidism	MIK: 15941866
Hypopituitarism	KEGG: H01700
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Familial central hypogonadism	MIK: 15941866
Cryptorchidism	MIK: 15941866
Delayed puberty	MIK: 15941866
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
15941866	Familial central hypogonadism, cryptorchidism, delayed puberty	W194X		3 hypogonadotropic hypogonadism	Male infertiltiy
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881