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Gene Gene information from NCBI Gene database.
Entrez ID 29803
Gene name Replication initiator 1
Gene symbol REPIN1
Synonyms (NCBI Gene)
AP4RIP60ZNF464Zfp464
Chromosome 7
Chromosome location 7q36.1
miRNA miRNA information provided by mirtarbase database.
370 Show/Hide all (370)
miRTarBase ID miRNA Experiments Reference
MIRT029596 hsa-miR-26b-5p Microarray 19088304
MIRT044714 hsa-miR-320a CLASH 23622248
MIRT052930 hsa-miR-15a-5p H1299 24285725
MIRT052930 hsa-miR-15a-5p Luciferase reporter assayqRT-PCR 24285725
MIRT690453 hsa-miR-4787-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17 Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619039 17922 ENSG00000214022
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BWE0
Protein name DNA-binding protein REPIN1 (60 kDa origin-specific DNA-binding protein) (60 kDa replication initiation region protein) (ATT-binding protein) (DHFR oribeta-binding protein RIP60) (Zinc finger protein 464)
Protein function Sequence-specific double-stranded DNA-binding protein (PubMed:10606657, PubMed:11328883, PubMed:2174103, PubMed:2247056, PubMed:8355269). Binds ATT-rich and T-rich DNA sequences and facilitates DNA bending (PubMed:10606657, PubMed:11328883, PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 487 → 509 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 515 → 537 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 459 → 481 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 177 → 199 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 264 → 286 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 431 → 453 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 292 → 314 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 375 → 397 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 403 → 425 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 116 → 138 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in adipose tissue and bone tissue. {ECO:0000269|PubMed:20727851, ECO:0000269|PubMed:37749079}.
Sequence
MLERRCRGPLAMGLAQPRLLSGPSQESPQTLGKESRGLRQQGTSVAQSGAQAPGRAHRCA
HCRRHFPGWVALWLHTRRCQARLPLPCPECGRRFRHAPFLALHRQVHAAATPDLGFACHL
CGQSFRGWVALVLHLRAH
SAAKRPIACPKCERRFWRRKQLRAHLRRCHPPAPEARPFICG
NCGRSFAQWDQLVAHKRVH
VAEALEEAAAKALGPRPRGRPAVTAPRPGGDAVDRPFQCAC
CGKRFRHKPNLIAHRRVHTGERPHQCPECGKRFTNKPYLTSHRRIHTGEKPYPCKECGRR
FRHKPNLLSHSKIH
KRSEGSAQAAPGPGSPQLPAGPQESAAEPTPAVPLKPAQEPPPGAP
PEHPQDPIEAPPSLYSCDDCGRSFRLERFLRAHQRQHTGERPFTCAECGKNFGKKTHLVA
HSRVH
SGERPFACEECGRRFSQGSHLAAHRRDHAPDRPFVCPDCGKAFRHKPYLAAHRRI
H
TGEKPYVCPDCGKAFSQKSNLVSHRRIHTGERPYACPDCDRSFSQKSNLITHRKSHIRD
GAFCCAICGQTFDDEERLLAHQKKHDV
Sequence length 567
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (13)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Azoospermia Azoospermia Pubtator 38403804 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Azoospermia Nonobstructive Nonobstructive azoospermia Pubtator 38403804 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29378908
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral Palsy Cerebral palsy BEFREE 24065543
★★★★★
★☆☆☆☆
Found in Text Mining only
Dyslipidemias Dyslipidemias BEFREE 30442920
★★★★★
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty Liver BEFREE 30442920
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 29979259
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 29378908
★★★★★
★☆☆☆☆
Found in Text Mining only
Metabolic Diseases Metabolic Diseases BEFREE 23374714
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 30899593
★★★★★
★☆☆☆☆
Found in Text Mining only