Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601538 9455 ENSG00000175325
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
RAKQRK
QERSLLQPLAHLSPAAFSSFLPESTACPYSYAAPPPPVTCFPHPYSHALPSQPS
TGGAFALSHQSEDWYPTLHPAPAGHLPCPPPPPMLPLSLEPSKSWN
Sequence length 226
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
46,XY partial gonadal dysgenesis Likely pathogenic; Pathogenic rs193922688 RCV002254517
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined pituitary hormone deficiencies, genetic form Likely pathogenic; Pathogenic rs193922688, rs587776683, rs137853100, rs140016178 RCV000030379
RCV005406731
RCV003317030
RCV000030381
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary hormone deficiency Likely pathogenic; Pathogenic rs193922688, rs146918863 RCV005865172
RCV005865376
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (40 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Amenorrhea Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED PITUITARY HORMONE DEFICIENCY GENETIC FORM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Combined Pituitary Hormone Deficiency, Recessive Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 10902805
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease BEFREE 11022176
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 10404841, 10902805, 23778486
★☆☆☆☆
Found in Text Mining only
Adrenal cortical hypofunction Adrenal Cortical Hypofunction BEFREE 11022176, 15472232
★☆☆☆☆
Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder) Adrenocorticotropic Hormone Deficiency BEFREE 10902805, 12780757, 12914740, 17162714
★☆☆☆☆
Found in Text Mining only
Adrenogenital Syndrome Adrenogenital Syndrome BEFREE 31028847
★☆☆☆☆
Found in Text Mining only
Adult Craniopharyngioma Craniopharyngioma BEFREE 21761366, 23831233
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 31028847
★☆☆☆☆
Found in Text Mining only
Amenorrhea Amenorrhea Pubtator 23624138, 36984475 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations