Gene Gene information from NCBI Gene database.
Entrez ID 754
Gene name PTTG1 interacting protein
Gene symbol PTTG1IP
Synonyms (NCBI Gene)
C21orf1C21orf3PBFPTTG1IP1
Chromosome 21
Chromosome location 21q22.3
Summary This gene encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression of this protein and PTTG1 induces transcriptional activa
miRNA miRNA information provided by mirtarbase database.
686
miRTarBase ID miRNA Experiments Reference
MIRT002596 hsa-miR-124-3p Microarray 15685193
MIRT002596 hsa-miR-124-3p Microarray 18668037
MIRT002596 hsa-miR-124-3p Microarray 15685193
MIRT027698 hsa-miR-98-5p Microarray 19088304
MIRT1276712 hsa-miR-1184 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PTTG1 Activation 15886233
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0002039 Function P53 binding IPI 24506068
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32814053
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 10781616
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603784 13524 ENSG00000183255
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P53801
Protein name Pituitary tumor-transforming gene 1 protein-interacting protein (Pituitary tumor-transforming gene protein-binding factor) (PBF) (PTTG-binding factor)
Protein function May facilitate PTTG1 nuclear translocation.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MAPGVARGPTPYWRLRLGGAALLLLLIPVAAAQEPPGAACSQNTNKTCEECLKNVSCLWC
NTNKACLDYPVTSVLPPASLCKLSSARWGVCWVNFEALIITMSVVGGTLLLGIAICCCCC
CRRKRSRKPDRSEEKAMREREERRIRQEERRAEMKTRHDEIRKKYGLFKEENPYARFENN
Sequence length 180
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign 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
Asthma Asthma BEFREE 27709636
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 27709636 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22404099, 29078751
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20406982, 22404099, 27603901 Associate
★☆☆☆☆
Found in Text Mining only
Bronchial Hyperreactivity Bronchial Hyperreactivity BEFREE 27709636
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 20883601, 30154144 Associate
★☆☆☆☆
Found in Text Mining only
Congenital chromosomal disease Congenital Chromosomal Disease BEFREE 28504713
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 27053236, 30846607
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 27053236, 30846607
★☆☆☆☆
Found in Text Mining only
Differentiated Thyroid Gland Carcinoma Thyroid Carcinoma BEFREE 15886233, 17297475, 24506068
★☆☆☆☆
Found in Text Mining only