Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	5626
Gene name	PROP paired-like homeobox 1
Gene symbol	PROP1
Synonyms (NCBI Gene)	CPHD2PROP-1
Chromosome	5
Chromosome location	5q35.3
Summary	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

Show/Hide all (37)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917839	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs121917840	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs121917841	A>G	Pathogenic	Coding sequence variant, missense variant
rs121917842	C>T	Pathogenic	Coding sequence variant, missense variant
rs121917843	G>A	Pathogenic	Coding sequence variant, missense variant
rs121917844	G>A	Pathogenic	Stop gained, coding sequence variant
rs121917845	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs137853100	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs140016178	G>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs144314831	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs145883811	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, stop gained, coding sequence variant
rs193922688	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs200977367	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587776681	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs587776682	GGAGCACTCGAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587776683	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs758911793	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs762529663	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs766673446	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs769171020	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs775353413	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs786204663	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs794726693	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516832	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516846	T>C	Likely-pathogenic	Splice acceptor variant
rs1057517027	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517041	T>A	Likely-pathogenic	Splice acceptor variant
rs1057517424	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064797071	C>G	Likely-pathogenic	Initiator codon variant, missense variant
rs1214465435	C>A	Likely-pathogenic	Splice donor variant
rs1436089021	C>T	Likely-pathogenic	Splice donor variant
rs1554182405	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554182481	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1554182507	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554182514	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554182632	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554182645	A>G	Likely-pathogenic	Initiator codon variant, missense variant

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT731114	hsa-miR-593-3p	Western blotLuciferase reporter assay	25434367
MIRT731114	hsa-miR-593-3p	Western blotLuciferase reporter assay	25434367
MIRT731114	hsa-miR-593-3p	Western blotLuciferase reporter assay	25434367
MIRT731114	hsa-miR-593-3p	Western blotLuciferase reporter assay	25434367
MIRT731115	hsa-miR-511-5p	Western blotLuciferase reporter assay	25434367
MIRT731115	hsa-miR-511-5p	Western blotLuciferase reporter assay	25434367
MIRT731115	hsa-miR-511-5p	Western blotLuciferase reporter assay	25434367
MIRT731115	hsa-miR-511-5p	Western blotLuciferase reporter assay	25434367
MIRT1265180	hsa-miR-1276	CLIP-seq
MIRT1265181	hsa-miR-197	CLIP-seq
MIRT1265182	hsa-miR-2110	CLIP-seq
MIRT1265183	hsa-miR-3157-5p	CLIP-seq
MIRT1265184	hsa-miR-3171	CLIP-seq
MIRT1265185	hsa-miR-3202	CLIP-seq
MIRT1265186	hsa-miR-4271	CLIP-seq
MIRT1265187	hsa-miR-4691-3p	CLIP-seq
MIRT1265188	hsa-miR-4695-3p	CLIP-seq
MIRT1265189	hsa-miR-4724-5p	CLIP-seq
MIRT1265190	hsa-miR-4725-3p	CLIP-seq
MIRT1265191	hsa-miR-4747-5p	CLIP-seq
MIRT1265192	hsa-miR-580	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	23732115, 32296183, 36217029
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007417	Process	Central nervous system development	TAS	9462743
GO:0008013	Function	Beta-catenin binding	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0016477	Process	Cell migration	IEA
GO:0021979	Process	Hypothalamus cell differentiation	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0021984	Process	Adenohypophysis development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048732	Process	Gland development	IEA
GO:0048850	Process	Hypophysis morphogenesis	IEA
GO:0060126	Process	Somatotropin secreting cell differentiation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601538	9455	ENSG00000175325

O75360

Protein name

Homeobox protein prophet of Pit-1 (PROP-1) (Pituitary-specific homeodomain factor)

Protein function

Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	70 → 126	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed specifically in embryonic pituitary.

Sequence

MEAERRRQAEKPKKGRVGSNLLPERHPATGTPTTTVDSSAPPCRRLPGAGGGRSRFSPQG
GQRGRPHSRRRHRTTFSPVQLEQLESAFGRNQYPDIWARESLARDTGLSEARIQVWFQNR
RAKQRKQERSLLQPLAHLSPAAFSSFLPESTACPYSYAAPPPPVTCFPHPYSHALPSQPS
TGGAFALSHQSEDWYPTLHPAPAGHLPCPPPPPMLPLSLEPSKSWN

Sequence length

226

Interactions

View interactions

144

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
46,XY partial gonadal dysgenesis	Likely pathogenic; Pathogenic	rs193922688	RCV002254517
Combined pituitary hormone deficiencies, genetic form	Likely pathogenic; Pathogenic	rs193922688, rs587776683, rs137853100, rs140016178	RCV000030379 RCV005406731 RCV003317030 RCV000030381
Pituitary hormone deficiency	Likely pathogenic; Pathogenic	rs193922688, rs146918863	RCV005865172 RCV005865376
Pituitary hormone deficiency, combined, 2	Likely pathogenic; Pathogenic	rs2113064591, rs780134343, rs761018422, rs2480285098, rs794726693, rs766673446, rs786204663, rs2480292680, rs121917839, rs121917840, rs587776681, rs193922688, rs121917841, rs587776682, rs587776683 View all (28 more)	RCV003462993 RCV003462988 RCV003464401 RCV002283886 RCV000148938 RCV000169361 RCV000169459 RCV005045016 RCV000008563 RCV000008564 RCV000008565 RCV000008566 RCV000008568 RCV000008569 RCV000008570 RCV000008571 RCV000008572 RCV000008573 RCV000008574 RCV000008575 RCV003463378 RCV003463379 RCV003471742 RCV004574627 RCV004574628 RCV004574629 RCV000409202 RCV000409831 RCV000411573 RCV000411538 RCV000410666 RCV000410070 RCV000487438 RCV002283446 RCV000667998 RCV000673321 RCV000673608 RCV000674013 RCV000669055 RCV000666479 RCV000675032 RCV000666308 RCV000673350 RCV000673898 RCV000778762
PROP1-related disorder	Likely pathogenic; Pathogenic	rs193922688, rs140016178	RCV004755724 RCV003415746
See cases	Pathogenic	rs587776683	RCV004584320

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Amenorrhea	Conflicting classifications of pathogenicity	rs143790367	RCV001849329
Combined Pituitary Hormone Deficiency, Recessive	Uncertain significance	rs886060475	RCV000285071
Disorder of sexual differentiation	Uncertain significance	rs2113063532	RCV001568321

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Stimulate	23778486
Adrenocorticotropic hormone deficiency	Associate	17162714, 31948187
Amenorrhea	Associate	23624138, 36984475
Cardiomegaly	Associate	17698542, 30988269
Chromosome Aberrations	Associate	34124982
Combined Pituitary Hormone Deficiency	Associate	12153609, 15302300, 17162714, 17698542, 22111336, 23624138, 23652424, 26059845, 26608600, 28356564, 29255988, 30988269, 31948187, 32612575, 36984475, 9745452 View all (1 more)
Craniopharyngioma	Associate	22086512
Developmental Disabilities	Associate	23624138
Dwarfism Pituitary	Associate	22111336, 23652424, 30988269, 31948187
Follicle stimulating hormone deficiency isolated	Associate	17162714
Genetic Diseases Inborn	Associate	15302300, 17698542
Growth Disorders	Associate	23624138
Growth Hormone Secreting Pituitary Adenoma	Associate	23778486
Hypogonadism	Associate	31948187
Hypopituitarism	Associate	17698542, 34124982
Hypothyroidism	Associate	23624138, 23652424, 31948187, 32319661
Immunologic Deficiency Syndromes	Associate	23652424
Osteoporosis	Associate	23624138
Pituitary Diseases	Associate	12153609, 31948187, 34124982
Pituitary Neoplasms	Associate	23778486, 31948187
Prolactin Deficiency Isolated	Associate	31948187
Puberty Delayed	Associate	32612575
Renal Insufficiency	Associate	17162714

PROP1 (PROP paired-like homeobox 1)