Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10745
Gene name Gene Name - the full gene name approved by the HGNC.
Putative homeodomain transcription factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PHTF1
Synonyms (NCBI Gene) Gene synonyms aliases
PHTF
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.2
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005801 Component Cis-Golgi network IEA
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604950 8939 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
PIVNISEVLGPLCLMLLMGTVHCQIVSTQIT
RPSGNNGNRRRRKLRKTVNGDGSRENGNN
SSDKVRGIETLESVPIIGGFWETIFGNRIKRVKLISNKGTETDNDPSCVHPIIKRRQCRP
EIRMWQTREKAKFSDGEKCRREAFRRLGNGVSDDLSSEEDGEARTQMILLRRSVEGASSD
NGCEVKNRKSILSRHLNSQVKKTTTRWCHIVRDSDSLAESEFESAAFSQGSRSGVSGGSR
SLNMSRRDSESTRHDSETEDMLWDDLLHGPECRSSVTSDSEGAHVNTLHSGTKRDPKEDV
FQQNHLFWLQNSSPSSDRVSAIIWEGNECKKMDMSVLEISGIIMSRVNAYQQGVGYQMLG
NVVTIGLAFFPFLHRLFREKSLDQLKSISAEEILTLFCGAPPVTPIIVLSIINFFERLCL
TWMFFFMMCVAERTYKQRFLFAKLFSHITSARKARKYEIPHFRLKKVENIKIWLSLRSYL
KRRGPQRSVDVVVSSVFLLTLSIAFICCAQVLQGHKTFLNDAYNWEFLIWETALLLFLLR
LASLGSETNKKYSNVSILLTEQINLYLKMEKKPNKKEQLTLVNNVLKLSTKLLKELDTPF
RLYGLTMNPLIYNITRVVILSAVSGVISDLLGFNIRLWKIKS
Sequence length 762
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Rheumatoid arthritis Rheumatoid Arthritis rs587776843 19503088
Unknown
Disease term Disease name Evidence References Source
Hypothyroidism Hypothyroidism GWAS
Crohn Disease Crohn Disease GWAS
Giant Cell Arteritis Giant Cell Arteritis GWAS
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Associations from Text Mining
Disease Name Relationship Type References
Anemia Pernicious Associate 34145262
Arthritis Juvenile Associate 20722033
Arthritis Rheumatoid Associate 27898717, 33740106
Autoimmune Diseases Associate 22493691
Breast Neoplasms Associate 26472073
Cardiomyopathies Associate 33288658
Crohn Disease Associate 20722033
Diabetes Mellitus Type 1 Associate 20089178, 34521982
Hypothyroidism Associate 22493691
Multiple Sclerosis Associate 20722033