Gene Gene information from NCBI Gene database.
Entrez ID 116496
Gene name Niban apoptosis regulator 1
Gene symbol NIBAN1
Synonyms (NCBI Gene)
C1orf24FAM129AGIG39NIBAN
Chromosome 1
Chromosome location 1q25.3
Summary This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-med
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0001933 Process Negative regulation of protein phosphorylation ISS
GO:0001934 Process Positive regulation of protein phosphorylation ISS
GO:0005515 Function Protein binding IPI 22510990, 25416956, 32296183
GO:0005737 Component Cytoplasm IDA 16949643
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619294 16784 ENSG00000135842
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZQ8
Protein name Protein Niban 1 (Cell growth-inhibiting gene 39 protein) (Protein FAM129A)
Protein function Regulates phosphorylation of a number of proteins involved in translation regulation including EIF2A, EIF4EBP1 and RPS6KB1. May be involved in the endoplasmic reticulum stress response (By similarity).
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in various types of thyroid tumor such as papillary thyroid carcinomas and oxyphilic thyroid tumors but not in normal thyroid tissue (at protein level). Strongly expressed in heart, skeletal muscle, pancreas, white blood cell
Sequence
MGGSASSQLDEGKCAYIRGKTEAAIKNFSPYYSRQYSVAFCNHVRTEVEQQRDLTSQFLK
TKPPLAPGTILYEAELSQFSEDIKKWKERYVVVKNDYAVESYENKEAYQRGAAPKCRILP
AGGKVLTSEDEYNLLSDRHFPDPLASSEKENTQPFVVLPKEFPVYLWQPFFRHGYFCFHE
AADQKRFSALLSDCVRHLNHDYMKQMTFEAQAFLEAVQFFRQEKGHYGSWEMITGDEIQI
LSNLVMEELLPTLQTDLLPKMKGKKNDRKRTWLGLLEEAYTLVQHQVSEGLSALKEECRA
LTKGLEGTIRSDMDQIVNSKNYLIGKIKAMVAQPAEKSCLESVQPFLASILEELMGPVSS
GFSEVRVLFEKEVNEVSQNFQTTKDSVQLKEHLDRLMNLPLHSVKMEPCYTKVNLLHERL
QDLKSRFRFPHIDLVVQRTQNYMQELMENAVFTFEQLLSPHLQGEASKTAVAIEKVKLRV
LKQYDYDSSTIRKKIFQEALVQITLPTVQKALASTCKPELQKYEQFIFADHTNMIHVENV
YEEILHQILLDETLKVIKEAAILKKHNLFEDNMALPSESVSSLTDLKPPTGSNQASPARR
ASAILPGVLGSETLSNEVFQESEEEKQPEVPSSLAKGESLSLPGPSPPPDGTEQVIISRV
DDPVVNPVATEDTAGLPGTCSSELEFGGTLEDEEPAQEEPEPITASGSLKALRKLLTASV
EVPVDSAPVMEEDTNGESHVPQENEEEEEKEPSQAAAIHPDNCEESEVSEREAQPPCPEA
HGEELGGFPEVGSPASPPASGGLTEEPLGPMEGELPGEACTLTAHEGRGGKCTEEGDASQ
QEGCTLGSDPICLSESQVSEEQEEMGGQSSAAQATASVNAEEIKVARIHECQWVVEDAPN
PDVLLSHKDDVKEGEGGQESFPELPSEE
Sequence length 928
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 Evidence Score
CHOLESTASIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 31729558
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 29410046
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 29410046 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35127170 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 31406110
★☆☆☆☆
Found in Text Mining only
Cholestasis Cholestasis CTD_human_DG 27989131
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms Colorectal neoplasm Pubtator 32859214 Associate
★☆☆☆☆
Found in Text Mining only
Follicular thyroid carcinoma Follicular Thyroid Carcinoma BEFREE 15085203
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 37083136 Associate
★☆☆☆☆
Found in Text Mining only
Kidney Neoplasm Kidney Neoplasm BEFREE 11011112, 14990989
★☆☆☆☆
Found in Text Mining only