BLZF1

Summary

BLZF1 (basic leucine zipper nuclear factor 1, HGNC:1065) is a protein-coding gene on chromosome 1q24.2, encoding Golgin-45 (Q9H2G9). Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface.

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.

Source: NCBI Gene 8548 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_001320973

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1065
Approved symbol	BLZF1
Name	basic leucine zipper nuclear factor 1
Location	1q24.2
Locus type	gene with protein product
Status	Approved
Aliases	JEM-1
Ensembl gene	ENSG00000117475
Ensembl biotype	protein_coding
OMIM	608692
Entrez	8548

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 14 protein_coding

ENST00000329281, ENST00000367807, ENST00000367808, ENST00000420531, ENST00000426663, ENST00000899415, ENST00000899416, ENST00000899417, ENST00000899418, ENST00000899419, ENST00000930510, ENST00000930511, ENST00000947215, ENST00000947216

RefSeq mRNA: 3 — MANE Select: NM_001320973 NM_001320972, NM_001320973, NM_003666

CCDS: CCDS1278, CCDS81397

Canonical transcript exons

ENST00000367808 — 7 exons

Exon	Start	End
ENSE00001021758	169369473	169369550
ENSE00001067571	169376540	169376979
ENSE00001289617	169378330	169378529
ENSE00001300742	169382062	169382281
ENSE00001304196	169380481	169380609
ENSE00001445660	169386997	169388305
ENSE00003847596	169368195	169368342

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 92.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.9195 / max 753.4331, expressed in 1786 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6529	16.3303	1764
6528	3.9926	1506
6532	0.3219	80
6530	0.1543	73
6531	0.1203	55

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	92.20	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.25	gold quality
buccal mucosa cell	CL:0002336	90.58	gold quality
colonic epithelium	UBERON:0000397	89.27	gold quality
oral cavity	UBERON:0000167	89.05	gold quality
esophagus mucosa	UBERON:0002469	87.88	gold quality
adrenal tissue	UBERON:0018303	87.36	gold quality
gall bladder	UBERON:0002110	87.05	gold quality
esophagus squamous epithelium	UBERON:0006920	87.05	gold quality
rectum	UBERON:0001052	86.54	gold quality
blood vessel layer	UBERON:0004797	86.53	gold quality
esophagus	UBERON:0001043	86.01	gold quality
superficial temporal artery	UBERON:0001614	85.93	gold quality
islet of Langerhans	UBERON:0000006	85.85	gold quality
popliteal artery	UBERON:0002250	85.79	gold quality
tibial artery	UBERON:0007610	85.78	gold quality
monocyte	CL:0000576	85.24	gold quality
secondary oocyte	CL:0000655	85.23	gold quality
lower esophagus mucosa	UBERON:0035834	85.23	gold quality
aorta	UBERON:0000947	85.07	gold quality
descending thoracic aorta	UBERON:0002345	84.96	gold quality
stromal cell of endometrium	CL:0002255	84.91	gold quality
ventricular zone	UBERON:0003053	84.85	gold quality
left testis	UBERON:0004533	84.82	gold quality
right testis	UBERON:0004534	84.65	gold quality
ectocervix	UBERON:0012249	84.63	gold quality
left coronary artery	UBERON:0001626	84.48	gold quality
testis	UBERON:0000473	84.45	gold quality
vagina	UBERON:0000996	84.39	gold quality
mononuclear cell	CL:0000842	84.38	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting BLZF1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-6793-3P	97.66	65.78	1084
HSA-MIR-6865-3P	97.54	64.67	684
HSA-MIR-6791-3P	97.45	64.31	1123
HSA-MIR-6829-3P	97.45	64.31	1137
HSA-MIR-134-5P	97.11	66.52	976
HSA-MIR-3118	97.11	66.58	984
HSA-MIR-4288	97.11	67.23	1636
HSA-MIR-6836-3P	97.08	64.99	712
HSA-MIR-3674	97.01	68.86	1171
HSA-MIR-6866-5P	96.64	68.06	624
HSA-MIR-500B-3P	96.49	65.40	1087
HSA-MIR-632	96.08	67.17	798
HSA-MIR-1231	95.10	65.63	663
HSA-MIR-6879-3P	93.93	64.00	759

Literature-anchored findings (GeneRIF, showing 4)

• 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. (PMID:11739401)
• 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 (PMID:26342799)
• Golgin45-Syntaxin5 Interaction Contributes to Structural Integrity of the Golgi Stack. (PMID:31462665)
• Golgin45 assists mitosis via its nuclear localization sequence. (PMID:39442450)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	blzf1	ENSDARG00000011299
mus_musculus	Blzf1	ENSMUSG00000026577
rattus_norvegicus	Blzf1	ENSRNOG00000002884
drosophila_melanogaster	CG9356	FBGN0037688
caenorhabditis_elegans		WBGENE00020018

Protein

Protein identifiers

Golgin-45 — Q9H2G9 (reviewed: Q9H2G9)

Alternative names: Basic leucine zipper nuclear factor 1, JEM-1, p45 basic leucine-zipper nuclear factor

All UniProt accessions (3): Q9H2G9, Q5T532, Q5T534

UniProt curated annotations — full annotation on UniProt →

Function. Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface.

Subunit / interactions. Interacts with GORASP2. Interacts with the GTP-bound form of RAB2, but not with other Golgi Rab proteins. Identified in a complex with RAB2 and GORASP2.

Subcellular location. Golgi apparatus membrane Nucleus Cytoplasm.

Tissue specificity. Detected in adrenal gland.

Post-translational modifications. ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination. Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation.

Domain organisation. The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2.

Induction. Up-regulated by retinoids.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H2G9-1	1	yes
Q9H2G9-2	2, JEM1s

RefSeq proteins (3): NP_001307901, NP_001307902, NP_003657 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013183	Hsk3-like	Family
IPR027095	Golgin-45	Family

Pfam: PF08227

UniProt features (15 total): modified residue 4, region of interest 2, splice variant 2, sequence variant 2, chain 1, sequence conflict 1, coiled-coil region 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2G9-F1	71.93	0.41

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 15, 49, 348, 353

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-162658	Golgi Cisternae Pericentriolar Stack Reorganization

MSigDB gene sets: 172 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, PATIL_LIVER_CANCER, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, GOBP_GOLGI_TO_PLASMA_MEMBRANE_TRANSPORT, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOBP_GOLGI_TO_PLASMA_MEMBRANE_PROTEIN_TRANSPORT, GARY_CD5_TARGETS_DN, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, PEART_HDAC_PROLIFERATION_CLUSTER_UP, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, RFX1_02, MARTINEZ_RESPONSE_TO_TRABECTEDIN_DN

GO Biological Process (4): Golgi organization (GO:0007030), Golgi to plasma membrane protein transport (GO:0043001), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192)

GO Molecular Function (3): enzyme binding (GO:0019899), ubiquitin protein ligase binding (GO:0031625), protein binding (GO:0005515)

GO Cellular Component (7): Golgi membrane (GO:0000139), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cis-Golgi network (GO:0005801), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Mitotic Prophase	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	3
cellular anatomical structure	3
transport	2
Golgi apparatus	2
organelle organization	1
endomembrane system organization	1
Golgi to plasma membrane transport	1
protein transport	1
establishment of protein localization to plasma membrane	1
protein localization to plasma membrane	1
intracellular protein localization	1
establishment of protein localization	1
cellular process	1
protein binding	1
ubiquitin-like protein ligase binding	1
binding	1
bounding membrane of organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
endomembrane system	1

Protein interactions and networks

STRING

1142 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BLZF1	GORASP2	Q9H8Y8	999
BLZF1	RAB2A	P08886	982
BLZF1	GORASP1	Q9BQQ3	919
BLZF1	ACBD3	Q9H3P7	819
BLZF1	GOLGA5	Q8TBA6	693
BLZF1	USO1	O60763	658
BLZF1	GOLGA2	Q08379	593
BLZF1	PI4KB	P78405	563
BLZF1	GOLPH3	Q9H4A6	557
BLZF1	RAB6A	P20340	550
BLZF1	RNF146	Q9NTX7	549
BLZF1	GOLGA3	Q08378	524
BLZF1	TRIP11	Q15643	519
BLZF1	CCDC27	Q2M243	516
BLZF1	GOLGB1	Q14789	515

IntAct

512 interactions, top by confidence:

A	B	Type	Score
PRKAB2	BLZF1	psi-mi:“MI:0915”(physical association)	0.840
BLZF1	PRKAB2	psi-mi:“MI:0915”(physical association)	0.840
BLZF1	SMAD3	psi-mi:“MI:0915”(physical association)	0.810
SMAD3	BLZF1	psi-mi:“MI:0915”(physical association)	0.810
ZBTB24	BLZF1	psi-mi:“MI:0915”(physical association)	0.780
LMO1	BLZF1	psi-mi:“MI:0915”(physical association)	0.780
BLZF1	RAB2A	psi-mi:“MI:0915”(physical association)	0.780
BLZF1	CINP	psi-mi:“MI:0915”(physical association)	0.780
BLZF1	LMO1	psi-mi:“MI:0915”(physical association)	0.780
CINP	BLZF1	psi-mi:“MI:0915”(physical association)	0.780
RAB2A	BLZF1	psi-mi:“MI:0915”(physical association)	0.780
HOXA1	BLZF1	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (196): BLZF1 (Two-hybrid), BLZF1 (Two-hybrid), BLZF1 (Two-hybrid), BLZF1 (Two-hybrid), BLZF1 (Two-hybrid), BLZF1 (Two-hybrid), BLZF1 (Two-hybrid), BLZF1 (Two-hybrid), BLZF1 (Two-hybrid), BLZF1 (Two-hybrid), BLZF1 (Two-hybrid), BLZF1 (Two-hybrid), ZBTB24 (Two-hybrid), AKAP9 (Two-hybrid), VPS28 (Two-hybrid)

ESM2 similar proteins: A0A1W2P884, A2AM05, A2AUM9, A2BGP7, E1U8D0, O94964, P60853, Q05D60, Q0KK56, Q2M243, Q32LC2, Q3UPP8, Q3V036, Q5PQQ9, Q5PQS2, Q5R9L2, Q5SZL2, Q5U3Z6, Q5U465, Q5U4W1, Q5XJA2, Q6AXZ4, Q6AYB8, Q6DIS8, Q6IPM2, Q6NRK1, Q6NRX3, Q6P2H3, Q6P402, Q6PCQ0, Q70YC5, Q7M6Y5, Q86YF9, Q86Z20, Q8BG89, Q8BMD2, Q8BMK0, Q8BVC4, Q8CFC9, Q8CGZ2

Diamond homologs: Q6AYB8, Q8R2X8, Q9H2G9

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
RNF146	“down-regulates quantity by destabilization”	BLZF1	ubiquitination
TNKS2	“down-regulates quantity by destabilization”	BLZF1	ADP-ribosylation
TNKS	“down-regulates quantity by destabilization”	BLZF1	ADP-ribosylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

71 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	54
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1295 predictions. Top by Δscore:

Variant	Effect	Δscore
1:169376538:A:AG	acceptor_gain	1.0000
1:169376539:G:GA	acceptor_gain	1.0000
1:169376539:GTC:G	acceptor_gain	1.0000
1:169376704:C:G	donor_gain	1.0000
1:169376743:GCT:G	donor_gain	1.0000
1:169380477:TCA:T	acceptor_loss	1.0000
1:169380478:CA:C	acceptor_loss	1.0000
1:169380479:A:AG	acceptor_gain	1.0000
1:169380479:AG:A	acceptor_gain	1.0000
1:169380480:G:A	acceptor_loss	1.0000
1:169380480:G:GG	acceptor_gain	1.0000
1:169380480:GG:G	acceptor_gain	1.0000
1:169380480:GGGT:G	acceptor_gain	1.0000
1:169380480:GGGTA:G	acceptor_gain	1.0000
1:169380607:G:GT	donor_gain	1.0000
1:169380607:GAA:G	donor_gain	1.0000
1:169380610:G:GG	donor_gain	1.0000
1:169380657:T:G	donor_gain	1.0000
1:169380657:T:TG	donor_gain	1.0000
1:169380662:T:G	donor_gain	1.0000
1:169395203:CCAT:C	acceptor_gain	1.0000
1:169395204:CATC:C	acceptor_gain	1.0000
1:169376534:T:TA	acceptor_gain	0.9900
1:169376535:GTTA:G	acceptor_loss	0.9900
1:169376538:A:C	acceptor_loss	0.9900
1:169376539:GT:G	acceptor_gain	0.9900
1:169376539:GTCA:G	acceptor_gain	0.9900
1:169376539:GTCAC:G	acceptor_gain	0.9900
1:169376734:G:GT	donor_gain	0.9900
1:169376977:GAG:G	donor_gain	0.9900

AlphaMissense

2597 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:169378504:T:A	W215R	0.997
1:169378504:T:C	W215R	0.997
1:169378508:G:C	R216P	0.996
1:169378514:A:T	K218I	0.996
1:169380561:T:C	L250P	0.996
1:169378346:A:T	K162I	0.995
1:169378347:A:C	K162N	0.995
1:169378347:A:T	K162N	0.995
1:169378510:A:C	S217R	0.995
1:169378512:T:A	S217R	0.995
1:169378512:T:G	S217R	0.995
1:169378515:A:C	K218N	0.995
1:169378515:A:T	K218N	0.995
1:169378516:T:C	F219L	0.995
1:169378518:C:A	F219L	0.995
1:169378518:C:G	F219L	0.995
1:169376963:T:C	L151P	0.994
1:169378337:G:C	R159P	0.994
1:169378355:T:C	L165P	0.994
1:169378525:A:C	S222R	0.994
1:169378527:C:A	S222R	0.994
1:169378527:C:G	S222R	0.994
1:169378343:T:C	L161S	0.992
1:169378421:T:C	L187P	0.992
1:169378506:G:C	W215C	0.992
1:169378506:G:T	W215C	0.992
1:169378360:G:C	A167P	0.990
1:169378513:A:G	K218E	0.990
1:169382076:T:C	L271P	0.990
1:169382274:C:A	A337D	0.990

dbSNP variants (sampled 300 via entrez): RS1000034866 (1:169369264 A>G), RS1000106571 (1:169368915 A>G), RS1000185758 (1:169375478 C>A,T), RS1000232080 (1:169390704 T>G), RS1000644112 (1:169375767 T>A,C), RS1000705999 (1:169368418 T>C), RS1000870241 (1:169389063 A>G), RS1000932952 (1:169396580 A>C,G), RS1001005124 (1:169396282 G>A), RS1001032742 (1:169370605 C>G,T), RS1001279535 (1:169389250 C>T), RS1001420093 (1:169371446 T>G), RS1001659948 (1:169369328 A>C), RS1001765014 (1:169375987 A>G), RS1001917132 (1:169377697 T>C)

Disease associations

OMIM: gene MIM:608692 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression	2
Estradiol	affects expression, decreases expression	2
Valproic Acid	decreases methylation, decreases expression	2
Cyclosporine	increases expression	2
TAK-243	increases sumoylation	1
urushiol	increases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
pentabromodiphenyl ether	increases expression	1
CGP 52608	affects binding, increases reaction	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
NSC 689534	affects binding, increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	decreases expression	1
Arsenic Trioxide	increases expression	1
Caffeine	decreases phosphorylation	1
Copper	affects binding, increases expression	1
Coumestrol	decreases expression	1
Formaldehyde	increases expression	1
Gasoline	decreases expression, increases abundance, affects cotreatment	1
Hydrogen Peroxide	affects expression	1
Methyl Methanesulfonate	increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Silicon Dioxide	increases expression	1
Dronabinol	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A0I4	SEES3-1V human BLZF1, clone1	Embryonic stem cell	Male
CVCL_A0I5	SEES3-1V human BLZF1, clone2	Embryonic stem cell	Male
CVCL_A0I6	SEES3-1V human BLZF1, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.