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Gene Gene information from NCBI Gene database.
Entrez ID 8548
Gene name Basic leucine zipper nuclear factor 1
Gene symbol BLZF1
Synonyms (NCBI Gene)
GOLGIN-45JEM-1JEM-1sJEM1
Chromosome 1
Chromosome location 1q24.2
miRNA miRNA information provided by mirtarbase database.
116 Show/Hide all (116)
miRTarBase ID miRNA Experiments Reference
MIRT822204 hsa-miR-122 CLIP-seq
MIRT822205 hsa-miR-1228 CLIP-seq
MIRT822206 hsa-miR-1297 CLIP-seq
MIRT822207 hsa-miR-140-3p CLIP-seq
MIRT822208 hsa-miR-150 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24 Show/Hide all (24)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 20211142, 21988832, 24722188, 25416956, 25910212, 26871637, 30194290, 31515488, 32296183, 32814053, 33961781, 35271311
GO:0005634 Component Nucleus IDA 11739401
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608692 1065 ENSG00000117475
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H2G9
Protein name Golgin-45 (Basic leucine zipper nuclear factor 1) (JEM-1) (p45 basic leucine-zipper nuclear factor)
Protein function Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08227 DASH_Hsk3 181 → 226 DASH complex subunit Hsk3 like Family
Tissue specificity TISSUE SPECIFICITY: Detected in adrenal gland (PubMed:9129147). {ECO:0000269|PubMed:11056056, ECO:0000269|PubMed:11739401, ECO:0000269|PubMed:9129147}.
Sequence
MTTKNLETKVTVTSSPIRGAGDGMETEEPPKSVEVTSGVQSRKHHSLQSPWKKAVPSESP
GVLQLGKMLTEKAMEVKAVRILVPKAAITHDIPNKNTKVKSLGHHKGEFLGQSEGVIEPN
KELSEVKNVLEKLKNSERRLLQDKEGLSNQLRVQTEVNRELKKLLVASVGDDLQYHFERL
AREKNQLILENEALGRNTAQLSEQLERMSIQCDVWRSKFLASRVMADELTNSRAALQRQN
RDAHGAIQDLLSEREQFRQEMIATQKLLEELLVSLQWGREQTYSPSVQPHSTAELALTNH
KLAKAVNSHLLGNVGINNQKKIPSTVEFCSTPAEKMAETVLRILDPVTCKESSPDNPFFE
SSPTTLLATKKNIGRFHPYTRYENITFNCCNHCRGELIAL
Sequence length 400
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Golgi Cisternae Pericentriolar Stack Reorganization
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
Malignant tumor of urinary bladder 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 (8)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 9823948
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 27226551
★★★★★
★☆☆☆☆
Found in Text Mining only
Frontotemporal Lobar Degeneration Frontotemporal dementia BEFREE 27226551
★★★★★
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington Disease BEFREE 8751857
★★★★★
★☆☆☆☆
Found in Text Mining only
leukemia Leukemia BEFREE 9129147
★★★★★
★☆☆☆☆
Found in Text Mining only
Myeloid Leukemia, Chronic Myeloid Leukemia BEFREE 2243138, 2400807
★★★★★
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Disorders Neurodegenerative Disorders BEFREE 27226551, 30406848
★★★★★
★☆☆☆☆
Found in Text Mining only
Venous Thromboembolism Venous thromboembolism Pubtator 22672568 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only