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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55809
Gene name	Transcriptional regulating factor 1
Gene symbol	TRERF1
Synonyms (NCBI Gene)	BCAR2HSA277276RAPATREP132TReP-132dJ139D8.5
Chromosome	6
Chromosome location	6p21.1
Summary	This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

105

Show/Hide all (105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018109	hsa-miR-335-5p	Microarray	18185580
MIRT023419	hsa-miR-30b-5p	Sequencing	20371350
MIRT027377	hsa-miR-101-3p	Sequencing	20371350
MIRT043712	hsa-miR-342-3p	CLASH	23622248
MIRT043205	hsa-miR-324-5p	CLASH	23622248
MIRT708543	hsa-miR-8485	HITS-CLIP	19536157
MIRT708542	hsa-miR-603	HITS-CLIP	19536157
MIRT708541	hsa-miR-3120-3p	HITS-CLIP	19536157
MIRT043712	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT708540	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT708543	hsa-miR-8485	HITS-CLIP	19536157
MIRT708542	hsa-miR-603	HITS-CLIP	19536157
MIRT708541	hsa-miR-3120-3p	HITS-CLIP	19536157
MIRT043712	hsa-miR-342-3p	HITS-CLIP	19536157
MIRT708540	hsa-miR-377-3p	HITS-CLIP	19536157
MIRT1452456	hsa-miR-1	CLIP-seq
MIRT1452457	hsa-miR-1178	CLIP-seq
MIRT1452458	hsa-miR-1206	CLIP-seq
MIRT1452459	hsa-miR-206	CLIP-seq
MIRT1452460	hsa-miR-21	CLIP-seq
MIRT1452461	hsa-miR-223	CLIP-seq
MIRT1452462	hsa-miR-3193	CLIP-seq
MIRT1452463	hsa-miR-3202	CLIP-seq
MIRT1452464	hsa-miR-34c-3p	CLIP-seq
MIRT1452465	hsa-miR-3614-5p	CLIP-seq
MIRT1452466	hsa-miR-3660	CLIP-seq
MIRT1452467	hsa-miR-3673	CLIP-seq
MIRT1452468	hsa-miR-3688-3p	CLIP-seq
MIRT1452469	hsa-miR-377	CLIP-seq
MIRT1452470	hsa-miR-3910	CLIP-seq
MIRT1452471	hsa-miR-4277	CLIP-seq
MIRT1452472	hsa-miR-4307	CLIP-seq
MIRT1452473	hsa-miR-432	CLIP-seq
MIRT1452474	hsa-miR-4443	CLIP-seq
MIRT1452475	hsa-miR-4459	CLIP-seq
MIRT1452476	hsa-miR-4526	CLIP-seq
MIRT1452477	hsa-miR-4533	CLIP-seq
MIRT1452478	hsa-miR-4659a-5p	CLIP-seq
MIRT1452479	hsa-miR-4659b-5p	CLIP-seq
MIRT1452480	hsa-miR-4686	CLIP-seq
MIRT1452481	hsa-miR-4728-3p	CLIP-seq
MIRT1452482	hsa-miR-4760-3p	CLIP-seq
MIRT1452483	hsa-miR-4773	CLIP-seq
MIRT1452484	hsa-miR-494	CLIP-seq
MIRT1452485	hsa-miR-548c-3p	CLIP-seq
MIRT1452486	hsa-miR-556-3p	CLIP-seq
MIRT1452487	hsa-miR-590-5p	CLIP-seq
MIRT1452488	hsa-miR-613	CLIP-seq
MIRT1452489	hsa-miR-628-5p	CLIP-seq
MIRT1452490	hsa-miR-890	CLIP-seq
MIRT2135483	hsa-miR-1270	CLIP-seq
MIRT2135484	hsa-miR-1910	CLIP-seq
MIRT2135485	hsa-miR-3160-5p	CLIP-seq
MIRT1452462	hsa-miR-3193	CLIP-seq
MIRT2135486	hsa-miR-3689d	CLIP-seq
MIRT1452469	hsa-miR-377	CLIP-seq
MIRT2135487	hsa-miR-4426	CLIP-seq
MIRT2135488	hsa-miR-4434	CLIP-seq
MIRT2135489	hsa-miR-4516	CLIP-seq
MIRT2135490	hsa-miR-4531	CLIP-seq
MIRT2135491	hsa-miR-455-3p	CLIP-seq
MIRT2135492	hsa-miR-4646-5p	CLIP-seq
MIRT2135493	hsa-miR-4647	CLIP-seq
MIRT2135494	hsa-miR-4662b	CLIP-seq
MIRT2135495	hsa-miR-4705	CLIP-seq
MIRT2135496	hsa-miR-4802-5p	CLIP-seq
MIRT2135497	hsa-miR-490-5p	CLIP-seq
MIRT1452484	hsa-miR-494	CLIP-seq
MIRT2135498	hsa-miR-498	CLIP-seq
MIRT2135499	hsa-miR-620	CLIP-seq
MIRT2356631	hsa-miR-133a	CLIP-seq
MIRT2356632	hsa-miR-133b	CLIP-seq
MIRT2356633	hsa-miR-23a	CLIP-seq
MIRT2356634	hsa-miR-23b	CLIP-seq
MIRT2356635	hsa-miR-23c	CLIP-seq
MIRT2356636	hsa-miR-3163	CLIP-seq
MIRT2356637	hsa-miR-361-3p	CLIP-seq
MIRT2356638	hsa-miR-3679-3p	CLIP-seq
MIRT2356639	hsa-miR-3691-3p	CLIP-seq
MIRT2356640	hsa-miR-3938	CLIP-seq
MIRT2356641	hsa-miR-3973	CLIP-seq
MIRT1452473	hsa-miR-432	CLIP-seq
MIRT2356642	hsa-miR-4662a-3p	CLIP-seq
MIRT1452484	hsa-miR-494	CLIP-seq
MIRT2356643	hsa-miR-5096	CLIP-seq
MIRT2356644	hsa-miR-548a-5p	CLIP-seq
MIRT2356645	hsa-miR-548ab	CLIP-seq
MIRT2356646	hsa-miR-548ak	CLIP-seq
MIRT2356647	hsa-miR-548b-5p	CLIP-seq
MIRT2356648	hsa-miR-548c-5p	CLIP-seq
MIRT2356649	hsa-miR-548d-5p	CLIP-seq
MIRT2356650	hsa-miR-548h	CLIP-seq
MIRT2356651	hsa-miR-548i	CLIP-seq
MIRT2356652	hsa-miR-548j	CLIP-seq
MIRT2356653	hsa-miR-548w	CLIP-seq
MIRT2356654	hsa-miR-548y	CLIP-seq
MIRT2356655	hsa-miR-559	CLIP-seq
MIRT2356656	hsa-miR-649	CLIP-seq
MIRT1452490	hsa-miR-890	CLIP-seq
MIRT2396332	hsa-miR-1253	CLIP-seq
MIRT2396333	hsa-miR-365	CLIP-seq
MIRT2396334	hsa-miR-433	CLIP-seq
MIRT2135492	hsa-miR-4646-5p	CLIP-seq
MIRT2135495	hsa-miR-4705	CLIP-seq
MIRT1452485	hsa-miR-548c-3p	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IBA
GO:0001223	Function	Transcription coactivator binding	IPI	11349124
GO:0001650	Component	Fibrillar center	IDA
GO:0003677	Function	DNA binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	11349124, 17015480
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0005515	Function	Protein binding	IPI	32296183, 35044719, 37219487
GO:0005634	Component	Nucleus	IDA	11349124
GO:0005634	Component	Nucleus	IDA	16371131
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0033142	Function	Nuclear progesterone receptor binding	IPI	17015480
GO:0045892	Process	Negative regulation of DNA-templated transcription	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11349124
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17015480
GO:0046872	Function	Metal ion binding	IEA
GO:0050847	Process	Progesterone receptor signaling pathway	IDA	17015480
GO:0071393	Process	Cellular response to progesterone stimulus	IDA	17015480

MIM	HGNC	e!Ensembl
610322	18273	ENSG00000124496

Q96PN7

Protein name

Transcriptional-regulating factor 1 (Breast cancer anti-estrogen resistance 2) (Transcriptional-regulating protein 132) (Zinc finger protein rapa) (Zinc finger transcription factor TReP-132)

Protein function

Binds DNA and activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13912	zf-C2H2_6	513 → 535		Domain
PF01448	ELM2	781 → 835	ELM2 domain	Family
PF13912	zf-C2H2_6	1018 → 1037		Domain

Tissue specificity

TISSUE SPECIFICITY: Highest expression was seen in thymus, testis and adrenal cortex, expressed also in the adrenal medulla, thyroid, and stomach. Highly expressed in steroidogenic JEG-3 and MCF-7 cells, low expression was seen in non-steroidogenic Hep-G2

Sequence

MGDQQLYKTNHVAHGSENLFYQQPPLGVHSGLNHNYGNAVTGGGMDAPQASPISPHFPQD
TRDGLGLPVGSKNLGQMDTSRQGGWGSHAGPGNHVQLRGNLANSNMMWGAPAQAEPTDGY
QYTYSQASEIRTQKLTSGVLHKLDSFTQVFANQNLRIQVNNMAQVLHTQSAVMDGAPDSA
LRQLLSQKPMEPPAPAIPSRYQQVPQQPHPGFTGGLSKPALQVGQHPTQGHLYYDYQQPL
AQVPVQGGQPLQAPQMLSQHMQQMQQHQYYPPQQQQQAGQQRISMQEIQTQPQQIRPSQP
QPPPQQQQPQQLQLQQRQGSMQIPQYYQPQPMMQHLQEQQQQQMHLQPPSYHRDPHQYTP
EQAHTVQLIPLGSMSQYYYQEPQQPYSHPLYQQSHLSQHQQREDSQLKTYSSDRQAQAML
SSHGDLGPPDTGMGDPASSDLTRVSSTLPHRPLLSPSGIHLNNMGPQHQQLSPSAMWPQM
HLPDGRAQPGSPESSGQPKGAFGEQFDAKNKLTCSICLKEFKNLPALNGHMRSHGGMRAS
PNLKQEEGEKVLPPQPQPPLPPPPPPPPPPQLPPEAESLTPMVMPVSVPVKLLPPKPSSQ
GFTNSTVAAPSARDKPASSMSDDEMPVLEIPRKHQPSVPKAEEPLKTVQEKKKFRHRPEP
LFIPPPPSYNPNPAASYSGATLYQSQLRSPRVLGDHLLLDPTHELPPYTPPPMLSPVRQG
SGLFSNVLISGHGPGAHPQLPLTPLTPTPRVLLCRSNSIDGSNVTVTPGPGEQTVDVEPR
INIGLRFQAEIPELQDISALAQDTHKATLVWKPWPELENHDLQQRVENLLNLCCSSALPG
GGTNSEFALHSLFEAKGDVMVALEMLLLRKPVRLKCHPLANYHYAGSDKWTSLERKLFNK
ALATYSKDFIFVQKMVKSKTVAQCVEYYYTWKKIMRLGRKHRTRLAEIIDDCVTSEEEEE
LEEEEEEDPEEDRKSTKEEESEVPKSPEPPPVPVLAPTEGPPLQALGQPSGSFICEMPNC
GAVFSSRQALNGHARIHGGTNQVTKARGAIPSGKQKPGGTQSGYCSVKSSPSHSTTSGET
DPTTIFPCKECGKVFFKIKSRNAHMKTHRQQEEQQRQKAQKAAFAAEMAATIERTTGPVG
APGLLPLDQLSLIKPIKDVDILDDDVVQQLGGVMEEAEVVDTDLLLDDQDSVLLQGDAEL

Sequence length

1200

Interactions

View interactions

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)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28360521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17015480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19075277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15899840, 17015480	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon Carcinoma	Colon Carcinoma	BEFREE	31181443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31126543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29393434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Achromians	BEFREE	28485322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17015480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19075277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31181443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19075277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17015480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19075277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19075277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19075277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31126543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15059936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30573200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31679231		★★★★★ ★☆☆☆☆ Found in Text Mining only

TRERF1 (transcriptional regulating factor 1)