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

    Gene ID: 8548, updated on 27-Nov-2024

    Summary

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    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, Nov 2024]
    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

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    See BLZF1 in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (169368195..169396575)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (168723507..168751898)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (169337433..169365813)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928596 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169074345-169074918 Neighboring gene Sharpr-MPRA regulatory region 5967 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:169076065-169076637 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:169082217-169083416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169085415-169086034 Neighboring gene ATPase Na+/K+ transporting subunit beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2070 Neighboring gene NME/NM23 family member 7 Neighboring gene NANOG hESC enhancer GRCh37_chr1:169185155-169185723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169225944-169226549 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:169226550-169227154 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:169336872-169338071 Neighboring gene coiled-coil domain containing 181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1546 Neighboring gene Sharpr-MPRA regulatory region 5964 Neighboring gene solute carrier family 19 member 2 Neighboring gene MPRA-validated peak447 silencer Neighboring gene MPRA-validated peak448 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1250 Neighboring gene MPRA-validated peak449 silencer Neighboring gene Sharpr-MPRA regulatory region 2803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169555193-169555694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:169555695-169556194 Neighboring gene coagulation factor V

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Golgin45 assists mitosis via its nuclear localization sequence. Gao J, et al. Biochem Biophys Res Commun, 2024 Nov 26. PMID 39442450
    2. Expression patterns of the JEM-1 gene in normal and tumor cells: ubiquity contrasting with a faint, but retinoid-induced, mRNA expression in promyelocytic NB4 cells. Tong JH, et al. Leukemia, 1998 Nov. PMID 9823948
    3. Genomic organization of the JEM-1 (BLZF1) gene on human chromosome 1q24: molecular cloning and analysis of its promoter region. Tong JH, et al. Genomics, 2000 Nov 1. PMID 11056056
    4. JEM-1, a novel nuclear co-factor: localisation and functional interaction with AP-1. Tong JH, et al. Leukemia, 1999 Dec. PMID 10602419
    5. BLZF1 expression is of prognostic significance in hepatocellular carcinoma. Huang RY, et al. Biochem Biophys Res Commun, 2015 Nov 20. PMID 26342799

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Golgin45 assists mitosis via its nuclear localization sequence.
      Title: Golgin45 assists mitosis via its nuclear localization sequence.
    2. Golgin45-Syntaxin5 Interaction Contributes to Structural Integrity of the Golgi Stack.
      Title: Golgin45-Syntaxin5 Interaction Contributes to Structural Integrity of the Golgi Stack.
    3. 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.
    4. 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.
    5. 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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC22497

    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.

    mRNA and Protein(s)

    1. NM_001320972.2 → NP_001307901.1  golgin-45 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AF288161, AL356852, AW105286, U79751
      Consensus CDS
      CCDS81397.1
      UniProtKB/Swiss-Prot
      Q9H2G9
      Related
      ENSP00000356781.3, ENST00000367807.7

    2. NM_001320973.2 → NP_001307902.1  golgin-45 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL021068, CA336342, U79751
      Consensus CDS
      CCDS1278.1
      UniProtKB/Swiss-Prot
      O15298, Q5T531, Q5T533, Q9GZX4, Q9H2G9
      UniProtKB/TrEMBL
      A8K6R0, Q53EV6
      Related
      ENSP00000356782.3, ENST00000367808.8
      Conserved Domains (2) summary
      pfam08227
      Location:181 → 226
      DASH_Hsk3; DASH complex subunit Hsk3 like
      cl25732
      Location:132 → 250
      SMC_N; RecF/RecN/SMC N terminal domain

    3. NM_003666.4 → NP_003657.1  golgin-45 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL021068, AL356852
      Consensus CDS
      CCDS1278.1
      UniProtKB/Swiss-Prot
      O15298, Q5T531, Q5T533, Q9GZX4, Q9H2G9
      UniProtKB/TrEMBL
      A8K6R0, Q53EV6
      Related
      ENSP00000327541.2, ENST00000329281.6
      Conserved Domains (2) summary
      pfam08227
      Location:181 → 226
      DASH_Hsk3; DASH complex subunit Hsk3 like
      cl25732
      Location:132 → 250
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      169368195..169396575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      168723507..168751898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H2G9.2 GenPept UniProtKB/Swiss-Prot:Q9H2G9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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