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Entry version 155 (12 Aug 2020)
Sequence version 2 (17 Oct 2006)
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Protein

Golgin-45

Gene

BLZF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processER-Golgi transport, Protein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
Q9H2G9

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-162658, Golgi Cisternae Pericentriolar Stack Reorganization

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Golgin-45
Alternative name(s):
Basic leucine zipper nuclear factor 1
JEM-12 Publications
p45 basic leucine-zipper nuclear factor
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BLZF1
Synonyms:JEM1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000117475.13

Human Gene Nomenclature Database

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HGNCi
HGNC:1065, BLZF1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608692, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H2G9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
8548

Open Targets

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OpenTargetsi
ENSG00000117475

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA25375

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9H2G9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BLZF1

Domain mapping of disease mutations (DMDM)

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DMDMi
116242501

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000875391 – 400Golgin-45Add BLAST400

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei15PhosphoserineCombined sources1
Modified residuei49PhosphoserineCombined sources1
Modified residuei348PhosphothreonineCombined sources1
Modified residuei353PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9H2G9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9H2G9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9H2G9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H2G9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H2G9

PeptideAtlas

More...
PeptideAtlasi
Q9H2G9

PRoteomics IDEntifications database

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PRIDEi
Q9H2G9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
80547 [Q9H2G9-1]
80548 [Q9H2G9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H2G9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9H2G9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by retinoids.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000117475, Expressed in testis and 231 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H2G9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9H2G9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000117475, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Q9H2G9
With#Exp.IntAct
AKAP9 - isoform 2 [Q99996-2]3EBI-2548012,EBI-9641546
AMOTL2 - isoform 4 [Q9Y2J4-4]3EBI-2548012,EBI-10187270
ANKS1A [Q49AR9]3EBI-2548012,EBI-11954519
AQP1 [P29972]3EBI-2548012,EBI-745213
BAG3 [O95817]3EBI-2548012,EBI-747185
BAG4 [O95429]3EBI-2548012,EBI-2949658
BANP - isoform 2 [Q8N9N5-2]3EBI-2548012,EBI-11524452
BCL6 [P41182]3EBI-2548012,EBI-765407
BEX2 [Q9BXY8]6EBI-2548012,EBI-745073
CARD9 [Q9H257]3EBI-2548012,EBI-751319
CCDC120 [Q96HB5]5EBI-2548012,EBI-744556
CCNH [P51946]3EBI-2548012,EBI-741406
CDC20B - isoform 5 [Q86Y33-5]5EBI-2548012,EBI-11983537
CDC37 [Q16543]3EBI-2548012,EBI-295634
CDK18 [Q07002]3EBI-2548012,EBI-746238
CFAP206 [Q8IYR0]3EBI-2548012,EBI-749051
CHCHD3 [Q9NX63]6EBI-2548012,EBI-743375
CINP [Q9BW66]7EBI-2548012,EBI-739784
CLCNKA - isoform 3 [P51800-3]3EBI-2548012,EBI-11980535
CTNNA3 - isoform 2 [Q9UI47-2]3EBI-2548012,EBI-11962928
ENKD1 [Q9H0I2]5EBI-2548012,EBI-744099
EPHB6 - isoform 2 [O15197-2]3EBI-2548012,EBI-10182490
ERCC3 [P19447]3EBI-2548012,EBI-1183307
EXOC8 [Q8IYI6]3EBI-2548012,EBI-742102
FAM124B - isoform 2 [Q9H5Z6-2]3EBI-2548012,EBI-11986315
FAM90A1 [Q86YD7]3EBI-2548012,EBI-6658203
FBF1 - isoform 6 [Q8TES7-6]3EBI-2548012,EBI-10244131
FHL2 [Q14192]10EBI-2548012,EBI-701903
FRMD6 [Q96NE9]3EBI-2548012,EBI-741729
FRS3 [O43559]3EBI-2548012,EBI-725515
GEM [P55040]6EBI-2548012,EBI-744104
HDAC4 - isoform 2 [P56524-2]3EBI-2548012,EBI-11953488
HOXA1 [P49639]6EBI-2548012,EBI-740785
HOXC8 [P31273]3EBI-2548012,EBI-1752118
IGFN1 - isoform 5 [Q86VF2-5]3EBI-2548012,EBI-11955401
IKZF3 [Q9UKT9]3EBI-2548012,EBI-747204
IL16 - isoform 2 [Q14005-2]3EBI-2548012,EBI-17178971
INO80B [Q9C086]3EBI-2548012,EBI-715611
IQUB [Q8NA54]6EBI-2548012,EBI-10220600
KANK2 [Q63ZY3]3EBI-2548012,EBI-2556193
KAT5 [Q92993]3EBI-2548012,EBI-399080
KCTD9 [Q7L273]3EBI-2548012,EBI-4397613
KIF9 [Q9HAQ2]3EBI-2548012,EBI-8472129
KLHL38 [Q2WGJ6]8EBI-2548012,EBI-6426443
LGALS14 [Q8TCE9]3EBI-2548012,EBI-10274069
LMO1 [P25800]7EBI-2548012,EBI-8639312
LMO2 [P25791]3EBI-2548012,EBI-739696
LMO3 - isoform 4 [Q8TAP4-4]3EBI-2548012,EBI-11742507
LNX1 [Q8TBB1]3EBI-2548012,EBI-739832
MFAP1 [P55081]3EBI-2548012,EBI-1048159
MID2 - isoform 2 [Q9UJV3-2]5EBI-2548012,EBI-10172526
MISP [Q8IVT2]5EBI-2548012,EBI-2555085
MKRN3 [Q13064]3EBI-2548012,EBI-2340269
MORN3 [Q6PF18]3EBI-2548012,EBI-9675802
NDEL1 [Q9GZM8]3EBI-2548012,EBI-928842
OAZ3 [Q9UMX2]4EBI-2548012,EBI-10281601
PCDHB12 [Q9Y5F1]3EBI-2548012,EBI-12012016
PIK3R3 [Q92569]5EBI-2548012,EBI-79893
PKN1 [Q16512]3EBI-2548012,EBI-602382
POLR1C [O15160]3EBI-2548012,EBI-1055079
PRKAB2 [O43741]9EBI-2548012,EBI-1053424
PRPF18 [Q99633]5EBI-2548012,EBI-2798416
PSMA1 [P25786]3EBI-2548012,EBI-359352
RAB2A [P61019]9EBI-2548012,EBI-752037
RAB2B [Q8WUD1]10EBI-2548012,EBI-5542466
RAB39A [Q14964]8EBI-2548012,EBI-3048577
RFC5 [P40937]3EBI-2548012,EBI-712376
RHOJ [Q9H4E5]3EBI-2548012,EBI-6285694
SCNM1 [Q9BWG6]6EBI-2548012,EBI-748391
SMAD3 [P84022]9EBI-2548012,EBI-347161
SPRED1 [Q7Z699]3EBI-2548012,EBI-5235340
SSX2B [Q16385]3EBI-2548012,EBI-2210673
SYT17 [Q9BSW7]3EBI-2548012,EBI-745392
TBC1D22B [Q9NU19]3EBI-2548012,EBI-8787464
TBC1D7 [Q9P0N9]8EBI-2548012,EBI-3258000
TCAP [O15273]3EBI-2548012,EBI-954089
TCF19 [Q9Y242]7EBI-2548012,EBI-7413767
TEKT4 [Q8WW24]3EBI-2548012,EBI-750487
TNS2 [Q63HR2]3EBI-2548012,EBI-949753
TRAPPC2L [Q9UL33]3EBI-2548012,EBI-747601
TRAPPC2L - isoform 2 [Q9UL33-2]3EBI-2548012,EBI-11119202
TRIM59 [Q8IWR1]3EBI-2548012,EBI-10262539
TSC22D4 [Q8IV54]3EBI-2548012,EBI-10261521
TSTD2 [Q5T7W7]5EBI-2548012,EBI-8994397
TTC23 - isoform 3 [Q5W5X9-3]5EBI-2548012,EBI-9090990
TXNDC5 [Q86UY0]3EBI-2548012,EBI-2825190
USHBP1 [Q8N6Y0]3EBI-2548012,EBI-739895
VPS28 [Q548N1]3EBI-2548012,EBI-10243107
VPS28 [Q9UK41]3EBI-2548012,EBI-727424
WDYHV1 [Q96HA8]3EBI-2548012,EBI-741158
ZBTB16 [Q05516]3EBI-2548012,EBI-711925
ZBTB24 [O43167]9EBI-2548012,EBI-744471
ZGPAT [A0A0S2Z6H0]3EBI-2548012,EBI-16428984
ZGPAT [Q8N5A5]3EBI-2548012,EBI-3439227
ZGPAT - isoform 2 [Q8N5A5-2]6EBI-2548012,EBI-10183064
ZIC1 [Q15915]3EBI-2548012,EBI-11963196
ZIM2 [Q9NZV7]3EBI-2548012,EBI-11962760
ZNF124 [Q15973]3EBI-2548012,EBI-2555767
ZNF410 [Q86VK4]3EBI-2548012,EBI-720304
ZNF410 - isoform 3 [Q86VK4-3]7EBI-2548012,EBI-11741890
ZNF417 [Q8TAU3]3EBI-2548012,EBI-740727
ZNF688 [A0A0S2Z5X4]3EBI-2548012,EBI-16429014
ZNF76 [P36508]3EBI-2548012,EBI-7254550
A0A384ME253EBI-2548012,EBI-10211777

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
114118, 69 interactors

Protein interaction database and analysis system

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IntActi
Q9H2G9, 123 interactors

Molecular INTeraction database

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MINTi
Q9H2G9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000356782

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9H2G9, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9H2G9

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni394 – 400Essential for interaction with GORASP21 Publication7

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili120 – 213Sequence analysisAdd BLAST94

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi18 – 22Tankyrase-binding motif5

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4074, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000009400

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_131589_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H2G9

Identification of Orthologs from Complete Genome Data

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OMAi
MVSLQWG

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H2G9

TreeFam database of animal gene trees

More...
TreeFami
TF317238

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027095, Golgin-45
IPR013183, Hsk3-like

The PANTHER Classification System

More...
PANTHERi
PTHR13066, PTHR13066, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08227, DASH_Hsk3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T534Q5T534_HUMAN
Golgin-45
BLZF1
127Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti368A → V in AAG37822 (PubMed:11056056).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U79751 mRNA Translation: AAB63110.1
AF288161 mRNA Translation: AAG37835.1
AF273875, AF288162 Genomic DNA Translation: AAG37821.1
AF272386 AF288162 Genomic DNA Translation: AAG37822.1
AL356852 Genomic DNA No translation available.
CH471067 Genomic DNA Translation: EAW90837.1
BC020716 mRNA Translation: AAH20716.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS1278.1 [Q9H2G9-1]
CCDS81397.1 [Q9H2G9-2]

NCBI Reference Sequences

More...
RefSeqi
NP_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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000329281; ENSP00000327541; ENSG00000117475 [Q9H2G9-1]
ENST00000367807; ENSP00000356781; ENSG00000117475 [Q9H2G9-2]
ENST00000367808; ENSP00000356782; ENSG00000117475 [Q9H2G9-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
8548

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:8548

UCSC genome browser

More...
UCSCi
uc001gfw.4, human [Q9H2G9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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 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

3D structure databases

SMRiQ9H2G9
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114118, 69 interactors
IntActiQ9H2G9, 123 interactors
MINTiQ9H2G9
STRINGi9606.ENSP00000356782

PTM databases

iPTMnetiQ9H2G9
PhosphoSitePlusiQ9H2G9

Polymorphism and mutation databases

BioMutaiBLZF1
DMDMi116242501

Proteomic databases

EPDiQ9H2G9
jPOSTiQ9H2G9
MassIVEiQ9H2G9
MaxQBiQ9H2G9
PaxDbiQ9H2G9
PeptideAtlasiQ9H2G9
PRIDEiQ9H2G9
ProteomicsDBi80547 [Q9H2G9-1]
80548 [Q9H2G9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
20542, 293 antibodies

The DNASU plasmid repository

More...
DNASUi
8548

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

Comparative Toxicogenomics Database

More...
CTDi
8548
DisGeNETi8548
EuPathDBiHostDB:ENSG00000117475.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BLZF1
HGNCiHGNC:1065, BLZF1
HPAiENSG00000117475, Low tissue specificity
MIMi608692, gene
neXtProtiNX_Q9H2G9
OpenTargetsiENSG00000117475
PharmGKBiPA25375

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4074, Eukaryota
GeneTreeiENSGT00390000009400
HOGENOMiCLU_131589_0_0_1
InParanoidiQ9H2G9
OMAiMVSLQWG
PhylomeDBiQ9H2G9
TreeFamiTF317238

Enzyme and pathway databases

PathwayCommonsiQ9H2G9
ReactomeiR-HSA-162658, Golgi Cisternae Pericentriolar Stack Reorganization

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
8548, 5 hits in 877 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
BLZF1, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
BLZF1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
8548
PharosiQ9H2G9, Tbio

Protein Ontology

More...
PROi
PR:Q9H2G9
RNActiQ9H2G9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000117475, Expressed in testis and 231 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGO45_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H2G9
Secondary accession number(s): O15298
, Q5T531, Q5T533, Q9GZX4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 17, 2006
Last modified: August 12, 2020
This is version 155 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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