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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	646
Gene name	Basonuclin zinc finger protein 1
Gene symbol	BNC1
Synonyms (NCBI Gene)	BNCBSN1HsT19447POF16bn1
Chromosome	15
Chromosome location	15q25.2
Summary	This gene encodes a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte prolifer

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1596591051	GGCCC>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (75)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018429	hsa-miR-335-5p	Microarray	18185580
MIRT029748	hsa-miR-26b-5p	Microarray	19088304
MIRT823244	hsa-miR-132	CLIP-seq
MIRT823245	hsa-miR-194	CLIP-seq
MIRT823246	hsa-miR-212	CLIP-seq
MIRT823247	hsa-miR-297	CLIP-seq
MIRT823248	hsa-miR-3148	CLIP-seq
MIRT823249	hsa-miR-3152-5p	CLIP-seq
MIRT823250	hsa-miR-3190	CLIP-seq
MIRT823251	hsa-miR-3653	CLIP-seq
MIRT823252	hsa-miR-3658	CLIP-seq
MIRT823253	hsa-miR-3671	CLIP-seq
MIRT823254	hsa-miR-3688-3p	CLIP-seq
MIRT823255	hsa-miR-380	CLIP-seq
MIRT823256	hsa-miR-3911	CLIP-seq
MIRT823257	hsa-miR-4302	CLIP-seq
MIRT823258	hsa-miR-4495	CLIP-seq
MIRT823259	hsa-miR-4762-5p	CLIP-seq
MIRT823260	hsa-miR-4774-3p	CLIP-seq
MIRT823261	hsa-miR-567	CLIP-seq
MIRT1943415	hsa-miR-1248	CLIP-seq
MIRT1943416	hsa-miR-2276	CLIP-seq
MIRT1943417	hsa-miR-2355-5p	CLIP-seq
MIRT1943418	hsa-miR-23a	CLIP-seq
MIRT1943419	hsa-miR-23b	CLIP-seq
MIRT1943420	hsa-miR-23c	CLIP-seq
MIRT823248	hsa-miR-3148	CLIP-seq
MIRT1943421	hsa-miR-3153	CLIP-seq
MIRT1943422	hsa-miR-3192	CLIP-seq
MIRT1943423	hsa-miR-4314	CLIP-seq
MIRT1943424	hsa-miR-4477a	CLIP-seq
MIRT1943425	hsa-miR-4646-5p	CLIP-seq
MIRT1943426	hsa-miR-4668-5p	CLIP-seq
MIRT823259	hsa-miR-4762-5p	CLIP-seq
MIRT1943427	hsa-miR-4778-3p	CLIP-seq
MIRT1943428	hsa-miR-4797-5p	CLIP-seq
MIRT1943429	hsa-miR-544	CLIP-seq
MIRT1943430	hsa-miR-548c-3p	CLIP-seq
MIRT1943431	hsa-miR-924	CLIP-seq
MIRT1943415	hsa-miR-1248	CLIP-seq
MIRT2182065	hsa-miR-141	CLIP-seq
MIRT2182066	hsa-miR-200a	CLIP-seq
MIRT1943416	hsa-miR-2276	CLIP-seq
MIRT1943417	hsa-miR-2355-5p	CLIP-seq
MIRT1943418	hsa-miR-23a	CLIP-seq
MIRT1943419	hsa-miR-23b	CLIP-seq
MIRT1943420	hsa-miR-23c	CLIP-seq
MIRT823248	hsa-miR-3148	CLIP-seq
MIRT1943421	hsa-miR-3153	CLIP-seq
MIRT1943422	hsa-miR-3192	CLIP-seq
MIRT1943423	hsa-miR-4314	CLIP-seq
MIRT1943425	hsa-miR-4646-5p	CLIP-seq
MIRT1943426	hsa-miR-4668-5p	CLIP-seq
MIRT2182067	hsa-miR-4729	CLIP-seq
MIRT823259	hsa-miR-4762-5p	CLIP-seq
MIRT1943427	hsa-miR-4778-3p	CLIP-seq
MIRT1943430	hsa-miR-548c-3p	CLIP-seq
MIRT1943431	hsa-miR-924	CLIP-seq
MIRT1943418	hsa-miR-23a	CLIP-seq
MIRT1943419	hsa-miR-23b	CLIP-seq
MIRT1943420	hsa-miR-23c	CLIP-seq
MIRT823248	hsa-miR-3148	CLIP-seq
MIRT1943421	hsa-miR-3153	CLIP-seq
MIRT1943422	hsa-miR-3192	CLIP-seq
MIRT1943423	hsa-miR-4314	CLIP-seq
MIRT1943425	hsa-miR-4646-5p	CLIP-seq
MIRT1943426	hsa-miR-4668-5p	CLIP-seq
MIRT823259	hsa-miR-4762-5p	CLIP-seq
MIRT1943430	hsa-miR-548c-3p	CLIP-seq
MIRT2444844	hsa-miR-3614-5p	CLIP-seq
MIRT2444845	hsa-miR-4273	CLIP-seq
MIRT2444846	hsa-miR-4303	CLIP-seq
MIRT2444847	hsa-miR-4677-5p	CLIP-seq
MIRT2485576	hsa-miR-1228	CLIP-seq
MIRT2485577	hsa-miR-3591-3p	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000182	Function	RDNA binding	IDA	10449744, 11152639
GO:0001216	Function	DNA-binding transcription activator activity	IDA	11152639
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	30010909
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8034748
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	ISS	11152639
GO:0005737	Component	Cytoplasm	IEA
GO:0006356	Process	Regulation of transcription by RNA polymerase I	IBA
GO:0006356	Process	Regulation of transcription by RNA polymerase I	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	TAS	8034748
GO:0008544	Process	Epidermis development	TAS	1332044
GO:0030154	Process	Cell differentiation	IEA
GO:0031981	Component	Nuclear lumen	IEA
GO:0045943	Process	Positive regulation of transcription by RNA polymerase I	IDA	11152639
GO:0046872	Function	Metal ion binding	IEA
GO:1900195	Process	Positive regulation of oocyte maturation	IMP	30010909

MIM	HGNC	e!Ensembl
601930	1081	ENSG00000169594

Q01954

Protein name

Zinc finger protein basonuclin-1

Protein function

Transcriptional activator (By similarity). It is likely involved in the regulation of keratinocytes terminal differentiation in squamous epithelia and hair follicles (PubMed:8034748). Required for the maintenance of spermatogenesis (By similarit

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12874	zf-met	357 → 378		Domain
PF00096	zf-C2H2	928 → 951	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: In epidermis, primarily detected in cells of the basal or immediately suprabasal layers (at protein level) (PubMed:16891417). In hair follicles, mainly expressed in the outer root sheath (at protein level) (PubMed:8034748). Expressed i

Sequence

MRRRPPSRGGRGAARARETRRQPRHRSGRRMAEAISCTLNCSCQSFKPGKINHRQCDQCK
HGWVAHALSKLRIPPMYPTSQVEIVQSNVVFDISSLMLYGTQAIPVRLKILLDRLFSVLK
QDEVLQILHALDWTLQDYIRGYVLQDASGKVLDHWSIMTSEEEVATLQQFLRFGETKSIV
ELMAIQEKEEQSIIIPPSTANVDIRAFIESCSHRSSSLPTPVDKGNPSSIHPFENLISNM
TFMLPFQFFNPLPPALIGSLPEQYMLEQGHDQSQDPKQEVHGPFPDSSFLTSSSTPFQVE
KDQCLNCPDAITKKEDSTHLSDSSSYNIVTKFERTQLSPEAKVKPERNSLGTKKGRVFCT
ACEKTFYDKGTLKIHYNAVHLKIKHKCTIEGCNMVFSSLRSRNRHSANPNPRLHMPMNRN
NRDKDLRNSLNLASSENYKCPGFTVTSPDCRPPPSYPGSGEDSKGQPAFPNIGQNGVLFP
NLKTVQPVLPFYRSPATPAEVANTPGILPSLPLLSSSIPEQLISNEMPFDALPKKKSRKS
SMPIKIEKEAVEIANEKRHNLSSDEDMPLQVVSEDEQEACSPQSHRVSEEQHVQSGGLGK
PFPEGERPCHRESVIESSGAISQTPEQATHNSERETEQTPALIMVPREVEDGGHEHYFTP
GMEPQVPFSDYMELQQRLLAGGLFSALSNRGMAFPCLEDSKELEHVGQHALARQIEENRF
QCDICKKTFKNACSVKIHHKNMHVKEMHTCTVEGCNATFPSRRSRDRHSSNLNLHQKALS
QEALESSEDHFRAAYLLKDVAKEAYQDVAFTQQASQTSVIFKGTSRMGSLVYPITQVHSA
SLESYNSGPLSEGTILDLSTTSSMKSESSSHSSWDSDGVSEEGTVLMEDSDGNCEGSSLV
PGEDEYPICVLMEKADQSLASLPSGLPITCHLCQKTYSNKGTFRAHYKTVHLRQLHKCKV
PGCNTMFSSVRSRNRHSQNPNLHKSLASSPSHLQ

Sequence length

994

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 Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs2547958432, rs2547957057	RCV003991643 RCV003991644	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure	Likely pathogenic	rs760137127	RCV001270232	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 16	Pathogenic	rs1596591051	RCV000984865	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
46 XX GONADAL DYSGENESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS, 46,XX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (29)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
46,XX gonadal dysgenesis	46, XX gonadal dysgenesis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	24662832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	19430199	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16339195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26821013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26821013	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20154727, 24454902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	15313903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	19430199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26291085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20154727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37705202	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	38614076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19430199	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26821013		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16339195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	24088737, 30953539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21741828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20154727, 24454902, 26821013, 30474248, 30953539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	39595984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	30010909		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31488892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34644201	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	24088737, 30953539		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24088737, 30953539, 36803844	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	30010909, 31065688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20154727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	21741828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34526665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

BNC1 (basonuclin zinc finger protein 1)