BLZF1 basic leucine zipper nuclear factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BLZF1provided by HGNC
Official Full Name: basic leucine zipper nuclear factor 1provided by HGNC
Primary source: HGNC:HGNC:1065
See related: Ensembl:ENSG00000117475 MIM:608692; AllianceGenome:HGNC:1065
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: JEM1; JEM-1; JEM-1s; GOLGIN-45
Summary: Enables ubiquitin protein ligase binding activity. Acts upstream of or within Golgi organization and Golgi to plasma membrane protein transport. Located in Golgi apparatus and nucleoplasm. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 12.9), esophagus (RPKM 10.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (169368195..169396575)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (168723507..168751898)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (169337433..169365813)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Golgin45-Syntaxin5 Interaction Contributes to Structural Integrity of the Golgi Stack.
Title: Golgin45-Syntaxin5 Interaction Contributes to Structural Integrity of the Golgi Stack.
prognostic value of BLZF1 was further confirmed by stratified analyses. Collectively, our data suggest BLZF1 is a novel unfavorable biomarker for prognosis of patients with HCC
Title: BLZF1 expression is of prognostic significance in hepatocellular carcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
JEM-1/Golgin-45 is a Golgi localised coiled-coil protein that directly interacts with the active form of the small GTPase rab2, suggesting a function in protein transport.
Title: A GRASP55-rab2 effector complex linking Golgi structure to membrane traffic.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

RH65485 (e-PCR)
- UniSTS:71715

RH16672 (e-PCR)
- UniSTS:9770

RH103775 (e-PCR)
- UniSTS:98100

A007J25 (e-PCR)
- UniSTS:1876

RH92136 (e-PCR)
- UniSTS:84603

SHGC-32124 (e-PCR)
- UniSTS:54954

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within Golgi organization	IDA Inferred from Direct Assay more info	PubMed
involved_in Golgi organization	NAS Non-traceable Author Statement more info	PubMed
involved_in Golgi to plasma membrane protein transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within Golgi to plasma membrane protein transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cis-Golgi network	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
NOT located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: golgin-45

Names: JEM-1short protein; cytoplasmic protein; leucine zipper nuclear factor; p45 basic leucine-zipper nuclear factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.