PHTF1 (putative homeodomain transcription factor 1)

Gene

• Entrez ID: 10745
• Gene name: Putative homeodomain transcription factor 1
• Gene symbol: PHTF1
• Synonyms (NCBI Gene): PHTF
• Chromosome: 1
• Chromosome location: 1p13.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024866	hsa-miR-215-5p	Microarray	19074876
MIRT026618	hsa-miR-192-5p	Microarray	19074876
MIRT030876	hsa-miR-21-5p	Microarray	18591254
MIRT050325	hsa-miR-25-3p	CLASH	23622248
MIRT042377	hsa-miR-484	CLASH	23622248
MIRT040056	hsa-miR-615-3p	CLASH	23622248
MIRT1232449	hsa-miR-101	CLIP-seq
MIRT1232450	hsa-miR-1278	CLIP-seq
MIRT1232451	hsa-miR-128	CLIP-seq
MIRT1232452	hsa-miR-27a	CLIP-seq
MIRT1232453	hsa-miR-27b	CLIP-seq
MIRT1232454	hsa-miR-3123	CLIP-seq
MIRT1232455	hsa-miR-3646	CLIP-seq
MIRT1232456	hsa-miR-3925-5p	CLIP-seq
MIRT1232457	hsa-miR-3976	CLIP-seq
MIRT1232458	hsa-miR-4724-5p	CLIP-seq
MIRT1232459	hsa-miR-4753-3p	CLIP-seq
MIRT1232460	hsa-miR-539	CLIP-seq
MIRT1232449	hsa-miR-101	CLIP-seq
MIRT2593168	hsa-miR-1207-3p	CLIP-seq
MIRT1232450	hsa-miR-1278	CLIP-seq
MIRT1232451	hsa-miR-128	CLIP-seq
MIRT2593169	hsa-miR-140-3p	CLIP-seq
MIRT1232452	hsa-miR-27a	CLIP-seq
MIRT1232453	hsa-miR-27b	CLIP-seq
MIRT2593170	hsa-miR-3152-3p	CLIP-seq
MIRT2593171	hsa-miR-3647-3p	CLIP-seq
MIRT2593172	hsa-miR-4422	CLIP-seq
MIRT1232458	hsa-miR-4724-5p	CLIP-seq
MIRT2593173	hsa-miR-511	CLIP-seq
MIRT2593174	hsa-miR-520d-5p	CLIP-seq
MIRT2593175	hsa-miR-524-5p	CLIP-seq
MIRT2593176	hsa-miR-552	CLIP-seq
MIRT2593177	hsa-miR-599	CLIP-seq
MIRT2593178	hsa-miR-664	CLIP-seq
MIRT1232449	hsa-miR-101	CLIP-seq
MIRT2593168	hsa-miR-1207-3p	CLIP-seq
MIRT1232450	hsa-miR-1278	CLIP-seq
MIRT1232451	hsa-miR-128	CLIP-seq
MIRT2593169	hsa-miR-140-3p	CLIP-seq
MIRT1232452	hsa-miR-27a	CLIP-seq
MIRT1232453	hsa-miR-27b	CLIP-seq
MIRT2593170	hsa-miR-3152-3p	CLIP-seq
MIRT2593171	hsa-miR-3647-3p	CLIP-seq
MIRT2593172	hsa-miR-4422	CLIP-seq
MIRT1232458	hsa-miR-4724-5p	CLIP-seq
MIRT2593173	hsa-miR-511	CLIP-seq
MIRT2593174	hsa-miR-520d-5p	CLIP-seq
MIRT2593175	hsa-miR-524-5p	CLIP-seq
MIRT2593176	hsa-miR-552	CLIP-seq
MIRT2593177	hsa-miR-599	CLIP-seq
MIRT2593178	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 604950
• HGNC: 8939
• e!Ensembl: ENSG00000116793

Protein

• UniProt ID: Q9UMS5
• Protein name: Protein PHTF1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12129	Phtf-FEM1B_bdg	5 → 151	Male germ-cell putative homeodomain transcription factor	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with highest levels in testis. {ECO:0000269|PubMed:10729229}.
• Sequence:

  MASNERDAISWYQKKIGAYDQQIWEKSIEQTQIKGLKNKPKKMGHIKPDLIDVDLIRGST
  FAKAKPEIPWTSLTRKGLVRVVFFPLFSNWWIQVTSLRIFVWLLLLYFMQVIAIVLYLMM
  PIVNISEVLGPLCLMLLMGTVHCQIVSTQITRPSGNNGNRRRRKLRKTVNGDGSRENGNN
  SSDKVRGIETLESVPIIGGFWETIFGNRIKRVKLISNKGTETDNDPSCVHPIIKRRQCRP
  EIRMWQTREKAKFSDGEKCRREAFRRLGNGVSDDLSSEEDGEARTQMILLRRSVEGASSD
  NGCEVKNRKSILSRHLNSQVKKTTTRWCHIVRDSDSLAESEFESAAFSQGSRSGVSGGSR
  SLNMSRRDSESTRHDSETEDMLWDDLLHGPECRSSVTSDSEGAHVNTLHSGTKRDPKEDV
  FQQNHLFWLQNSSPSSDRVSAIIWEGNECKKMDMSVLEISGIIMSRVNAYQQGVGYQMLG
  NVVTIGLAFFPFLHRLFREKSLDQLKSISAEEILTLFCGAPPVTPIIVLSIINFFERLCL
  TWMFFFMMCVAERTYKQRFLFAKLFSHITSARKARKYEIPHFRLKKVENIKIWLSLRSYL
  KRRGPQRSVDVVVSSVFLLTLSIAFICCAQVLQGHKTFLNDAYNWEFLIWETALLLFLLR
  LASLGSETNKKYSNVSILLTEQINLYLKMEKKPNKKEQLTLVNNVLKLSTKLLKELDTPF
  RLYGLTMNPLIYNITRVVILSAVSGVISDLLGFNIRLWKIKS

• Sequence length: 762

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTI-NEUTROPHIL ANTIBODY ASSOCIATED VASCULITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATINOCYTE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS, RHEUMATOID FACTOR NEGATIVE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia Pernicious	Pernicious anemia	Pubtator	34145262	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	20722033	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27898717, 33740106	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	22493691	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26472073	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	33288658	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	20722033	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	20089178, 34521982	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20089178		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	22493691	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	20722033	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	33740106	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	19503088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations