NBPF1 (NBPF member 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 55672
Gene name NBPF member 1
Gene symbol NBPF1
Synonyms (NCBI Gene)
AB13AB14AB23AD2NBGNBPF
Chromosome 1
Chromosome location 1p36.13
Summary This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT568863 hsa-miR-3617-5p PAR-CLIP 20371350
MIRT568862 hsa-miR-641 PAR-CLIP 20371350
MIRT568861 hsa-miR-1324 PAR-CLIP 20371350
MIRT568860 hsa-miR-8060 PAR-CLIP 20371350
MIRT568859 hsa-miR-1250-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
610501 26088 ENSG00000219481
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q3BBV0
Protein name NBPF family member NBPF1 (Neuroblastoma breakpoint family member 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06758 Olduvai 1123 → 1188 Olduvai domain Domain
PF06758 Olduvai 953 → 1018 Olduvai domain Domain
PF06758 Olduvai 1028 → 1093 Olduvai domain Domain
PF06758 Olduvai 878 → 943 Olduvai domain Domain
PF06758 Olduvai 720 → 782 Olduvai domain Domain
PF06758 Olduvai 806 → 868 Olduvai domain Domain
PF06758 Olduvai 449 → 511 Olduvai domain Domain
PF06758 Olduvai 178 → 240 Olduvai domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. The only tissue which shows a weak expression is kidney. {ECO:0000269|PubMed:16079250}.
Sequence 
MVVSAGPWSSEKAETNILEINEKLRPQLAENKQQFRNLKEKCFVTQLAGFLANRQKKYKY
EECKDLIKFMLRNERQFKEEKLAEQLKQAEELRQYKVLVHSQERELTQLREKLREGRDAS
RSLNQHLQALLTPDKPDKSQGQDLQEQLAEGCRLAQQLFQKLSPENDEDEDEDVQVEEAE
KVLESSAPREVQKAEESKVPEDSLEECAITCSNSHSPCDSNQPHKNINITFEEDKVNSTL
VVDRESSHDECQDAVNILPVPGPTSSATNVSMVVSAGPLSSEKAEMNILEINEKLHPQLA
EKKQQFRNLKEKCFVTQLACFLANQQNKYKYEECKDLIKSMLRNERQFKEEKLAEQLKQA
EELRQYKVLVHSQERELTQLREKLREGRDASRSLNQHLQALLTPDKPDKSQGQDLQEQLA
EGCRLAQQLFQKLSPENDEDEDEDVQVEEAEKVLESSAPREVQKAEESKVPEDSLEECAI
TCSNSHGPCDSNQPHKNINITFEEDKVNSALVVDRESSHDECQDAVNILPVPGPTSSATN
VSMVVSAGPLSSEKAEMNILEINEKLHPQLAEKKQQFRNLKEKCFVTQLACFLANQQNKY
KNEECKDLIKSMLRNERQFKEEKLAEQLKQAEELRQYKVLVHSQERELTQLREKLREGRD
ASCSLNQHLQALLTPDEPDKSQGQDLQEQLAEGCRLAQHLVQKLSPENDNDDDEDVQVEV
AEKVQKSSAPREMPKAEEKEVPEDSLEECAITCSNSHGPYDSNQPHRKTKITFEEDKVDS
TLIGSSSHVEWEDAVHIIPENESDDEEEEEKGPVSPRNLQESEEEEVPQESWDEGYSTLS
IPPEMLASYKSYSGTFHSLEEQQVCMAVDIGGHRWDQVKKEDQEATGPRLSRELLDEKGP
EVLQDSLDRCYSTPSGYLELTDSCQPYRSAFYILEQQRVGWALDMDEIEKYQEVEEDQDP
SCPRLSRELLDEKEPEVLQDSLDRCYSTPSGYLELPDLGQPYRSAVYSLEEQYLGLALDV
DRIKKDQEEEEDQGPPCPRLSRELLEAVEPEVLQDSLDRCYSTPSSCLEQPDSCLPYGSS
FYALEEKHVGFSLDVGEIEKKGKGKKRRGRRSTKKRRRRGRKEGEEDQNPPCPRLSGMLM
EVEEPEVLQDSLDRCYSTPSMYFELPDSFQHYRSVFYSFEEQHISFALDVDNRFLTLMGT
SLHLVFQMGVIFPQ
Sequence length 1214
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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
Lung cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (26)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 36060966 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 31264103 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29775621
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20678196, 29559730, 37454130 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36060966 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36060966 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 36060966 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 26802646
★★★★★
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 26802646
★★★★★
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 31264103 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for NBPF1.

No additional diseases found yet through genes similar to NBPF1.