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Protein

Golgin-45

Gene

BLZF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface.1 Publication

Caution

Was originally identified as a potential transcription factor, because of the presence of a potential basic motif and leucine-zipper domain, and because isoform 1 is detected in the nucleus upon heterologous expression. However, homology at several typical position for basic or hydrophobic residues is missing. Besides, another publication showed it is important for normal Golgi apparatus structure and function.3 Publications

GO - Molecular functioni

  • DNA binding Source: UniProtKB
  • DNA-binding transcription factor activity Source: UniProtKB
  • enzyme binding Source: UniProtKB
  • ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

  • cell proliferation Source: ProtInc
  • Golgi organization Source: MGI
  • Golgi to plasma membrane protein transport Source: MGI
  • regulation of cell growth Source: UniProtKB
  • regulation of transcription by RNA polymerase II Source: ProtInc

Keywordsi

Biological processER-Golgi transport, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-162658 Golgi Cisternae Pericentriolar Stack Reorganization

Names & Taxonomyi

Protein namesi
Recommended name:
Golgin-45
Alternative name(s):
Basic leucine zipper nuclear factor 1
JEM-12 Publications
p45 basic leucine-zipper nuclear factor
Gene namesi
Name:BLZF1
Synonyms:JEM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000117475.13
HGNCiHGNC:1065 BLZF1
MIMi608692 gene
neXtProtiNX_Q9H2G9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi8548
OpenTargetsiENSG00000117475
PharmGKBiPA25375

Polymorphism and mutation databases

BioMutaiBLZF1
DMDMi116242501

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000875391 – 400Golgin-45Add BLAST400

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei15PhosphoserineCombined sources1
Modified residuei49PhosphoserineCombined sources1
Modified residuei348PhosphothreonineCombined sources1
Modified residuei353PhosphoserineCombined sources1

Post-translational modificationi

ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination.1 Publication
Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation.1 Publication

Keywords - PTMi

ADP-ribosylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9H2G9
MaxQBiQ9H2G9
PaxDbiQ9H2G9
PeptideAtlasiQ9H2G9
PRIDEiQ9H2G9
ProteomicsDBi80547
80548 [Q9H2G9-2]

PTM databases

iPTMnetiQ9H2G9
PhosphoSitePlusiQ9H2G9

Expressioni

Tissue specificityi

Detected in adrenal gland (PubMed:9129147).3 Publications

Inductioni

Up-regulated by retinoids.2 Publications

Gene expression databases

BgeeiENSG00000117475 Expressed in 217 organ(s), highest expression level in ectocervix
CleanExiHS_BLZF1
ExpressionAtlasiQ9H2G9 baseline and differential
GenevisibleiQ9H2G9 HS

Organism-specific databases

HPAiHPA025703
HPA027331
HPA067113

Interactioni

Subunit structurei

Interacts with GORASP2. Interacts with the GTP-bound form of RAB2, but not with other Golgi Rab proteins (PubMed:11739401). Identified in a complex with RAB2 and GORASP2 (PubMed:11739401).1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114118, 64 interactors
IntActiQ9H2G9, 103 interactors
MINTiQ9H2G9
STRINGi9606.ENSP00000327541

Structurei

3D structure databases

ProteinModelPortaliQ9H2G9
SMRiQ9H2G9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni394 – 400Essential for interaction with GORASP21 Publication7

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili120 – 213Sequence analysisAdd BLAST94

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi18 – 22Tankyrase-binding motif5

Domaini

The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2.1 Publication

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4074 Eukaryota
ENOG410YMPQ LUCA
GeneTreeiENSGT00390000009400
HOGENOMiHOG000088649
HOVERGENiHBG051750
InParanoidiQ9H2G9
OMAiYHFERMA
OrthoDBiEOG091G0JDO
PhylomeDBiQ9H2G9
TreeFamiTF317238

Family and domain databases

InterProiView protein in InterPro
IPR027095 Golgin-45
IPR013183 Hsk3-like
PANTHERiPTHR13066 PTHR13066, 1 hit
PfamiView protein in Pfam
PF08227 DASH_Hsk3, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H2G9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTTKNLETKV TVTSSPIRGA GDGMETEEPP KSVEVTSGVQ SRKHHSLQSP
60 70 80 90 100
WKKAVPSESP GVLQLGKMLT EKAMEVKAVR ILVPKAAITH DIPNKNTKVK
110 120 130 140 150
SLGHHKGEFL GQSEGVIEPN KELSEVKNVL EKLKNSERRL LQDKEGLSNQ
160 170 180 190 200
LRVQTEVNRE LKKLLVASVG DDLQYHFERL AREKNQLILE NEALGRNTAQ
210 220 230 240 250
LSEQLERMSI QCDVWRSKFL ASRVMADELT NSRAALQRQN RDAHGAIQDL
260 270 280 290 300
LSEREQFRQE MIATQKLLEE LLVSLQWGRE QTYSPSVQPH STAELALTNH
310 320 330 340 350
KLAKAVNSHL LGNVGINNQK KIPSTVEFCS TPAEKMAETV LRILDPVTCK
360 370 380 390 400
ESSPDNPFFE SSPTTLLATK KNIGRFHPYT RYENITFNCC NHCRGELIAL
Length:400
Mass (Da):44,910
Last modified:October 17, 2006 - v2
Checksum:iF3F9DA9B13DF45B5
GO
Isoform 2 (identifier: Q9H2G9-2) [UniParc]FASTAAdd to basket
Also known as: JEM1s

The sequence of this isoform differs from the canonical sequence as follows:
     158-174: NRELKKLLVASVGDDLQ → RRALIDKMSTTLYVWTF
     175-400: Missing.

Show »
Length:174
Mass (Da):19,362
Checksum:i42524E04C956A3AB
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T532Q5T532_HUMAN
Golgin-45
BLZF1
250Annotation score:
Q5T534Q5T534_HUMAN
Golgin-45
BLZF1
127Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti368A → V in AAG37822 (PubMed:11056056).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02814240Q → R. Corresponds to variant dbSNP:rs1028180Ensembl.1
Natural variantiVAR_028143196R → Q. Corresponds to variant dbSNP:rs1064274Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011186158 – 174NRELK…GDDLQ → RRALIDKMSTTLYVWTF in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_011187175 – 400Missing in isoform 2. 1 PublicationAdd BLAST226

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U79751 mRNA Translation: AAB63110.1
AF288161 mRNA Translation: AAG37835.1
AF273875, AF288162 Genomic DNA Translation: AAG37821.1
AF272386
, AF272387, AF272388, AF273875, AF288162 Genomic DNA Translation: AAG37822.1
AL356852 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW90837.1
BC020716 mRNA Translation: AAH20716.1
CCDSiCCDS1278.1 [Q9H2G9-1]
CCDS81397.1 [Q9H2G9-2]
RefSeqiNP_001307901.1, NM_001320972.1 [Q9H2G9-2]
NP_001307902.1, NM_001320973.1 [Q9H2G9-1]
NP_003657.1, NM_003666.3 [Q9H2G9-1]
XP_011508394.1, XM_011510092.2
UniGeneiHs.130746

Genome annotation databases

EnsembliENST00000329281; ENSP00000327541; ENSG00000117475 [Q9H2G9-1]
ENST00000367807; ENSP00000356781; ENSG00000117475 [Q9H2G9-2]
ENST00000367808; ENSP00000356782; ENSG00000117475 [Q9H2G9-1]
GeneIDi8548
KEGGihsa:8548
UCSCiuc001gfw.4 human [Q9H2G9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U79751 mRNA Translation: AAB63110.1
AF288161 mRNA Translation: AAG37835.1
AF273875, AF288162 Genomic DNA Translation: AAG37821.1
AF272386
, AF272387, AF272388, AF273875, AF288162 Genomic DNA Translation: AAG37822.1
AL356852 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW90837.1
BC020716 mRNA Translation: AAH20716.1
CCDSiCCDS1278.1 [Q9H2G9-1]
CCDS81397.1 [Q9H2G9-2]
RefSeqiNP_001307901.1, NM_001320972.1 [Q9H2G9-2]
NP_001307902.1, NM_001320973.1 [Q9H2G9-1]
NP_003657.1, NM_003666.3 [Q9H2G9-1]
XP_011508394.1, XM_011510092.2
UniGeneiHs.130746

3D structure databases

ProteinModelPortaliQ9H2G9
SMRiQ9H2G9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114118, 64 interactors
IntActiQ9H2G9, 103 interactors
MINTiQ9H2G9
STRINGi9606.ENSP00000327541

PTM databases

iPTMnetiQ9H2G9
PhosphoSitePlusiQ9H2G9

Polymorphism and mutation databases

BioMutaiBLZF1
DMDMi116242501

Proteomic databases

EPDiQ9H2G9
MaxQBiQ9H2G9
PaxDbiQ9H2G9
PeptideAtlasiQ9H2G9
PRIDEiQ9H2G9
ProteomicsDBi80547
80548 [Q9H2G9-2]

Protocols and materials databases

DNASUi8548
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000329281; ENSP00000327541; ENSG00000117475 [Q9H2G9-1]
ENST00000367807; ENSP00000356781; ENSG00000117475 [Q9H2G9-2]
ENST00000367808; ENSP00000356782; ENSG00000117475 [Q9H2G9-1]
GeneIDi8548
KEGGihsa:8548
UCSCiuc001gfw.4 human [Q9H2G9-1]

Organism-specific databases

CTDi8548
DisGeNETi8548
EuPathDBiHostDB:ENSG00000117475.13
GeneCardsiBLZF1
HGNCiHGNC:1065 BLZF1
HPAiHPA025703
HPA027331
HPA067113
MIMi608692 gene
neXtProtiNX_Q9H2G9
OpenTargetsiENSG00000117475
PharmGKBiPA25375
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4074 Eukaryota
ENOG410YMPQ LUCA
GeneTreeiENSGT00390000009400
HOGENOMiHOG000088649
HOVERGENiHBG051750
InParanoidiQ9H2G9
OMAiYHFERMA
OrthoDBiEOG091G0JDO
PhylomeDBiQ9H2G9
TreeFamiTF317238

Enzyme and pathway databases

ReactomeiR-HSA-162658 Golgi Cisternae Pericentriolar Stack Reorganization

Miscellaneous databases

GeneWikiiBLZF1
GenomeRNAii8548
PROiPR:Q9H2G9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000117475 Expressed in 217 organ(s), highest expression level in ectocervix
CleanExiHS_BLZF1
ExpressionAtlasiQ9H2G9 baseline and differential
GenevisibleiQ9H2G9 HS

Family and domain databases

InterProiView protein in InterPro
IPR027095 Golgin-45
IPR013183 Hsk3-like
PANTHERiPTHR13066 PTHR13066, 1 hit
PfamiView protein in Pfam
PF08227 DASH_Hsk3, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGO45_HUMAN
AccessioniPrimary (citable) accession number: Q9H2G9
Secondary accession number(s): O15298
, Q5T531, Q5T533, Q9GZX4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 140 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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