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Q9H2G9

- GO45_HUMAN

UniProt

Q9H2G9 - GO45_HUMAN

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Protein

Golgin-45

Gene
BLZF1, JEM1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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.

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. enzyme binding Source: UniProtKB
  3. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  4. ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

  1. cell proliferation Source: ProtInc
  2. Golgi organization Source: MGI
  3. Golgi to plasma membrane protein transport Source: MGI
  4. mitotic cell cycle Source: Reactome
  5. regulation of cell growth Source: UniProtKB
  6. regulation of transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

ER-Golgi transport, Protein transport, Transport

Enzyme and pathway databases

ReactomeiREACT_1100. Golgi Cisternae Pericentriolar Stack Reorganization.

Names & Taxonomyi

Protein namesi
Recommended name:
Golgin-45
Alternative name(s):
Basic leucine zipper nuclear factor 1
JEM-1
p45 basic leucine-zipper nuclear factor
Gene namesi
Name:BLZF1
Synonyms:JEM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:1065. BLZF1.

Subcellular locationi

Golgi apparatus lumen 3 Publications
Isoform 1 : Nucleus 3 Publications
Isoform 2 : Cytoplasm 3 Publications

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. Golgi lumen Source: UniProtKB-SubCell
  3. Golgi membrane Source: Reactome
  4. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25375.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 400400Golgin-45PRO_0000087539Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei49 – 491Phosphoserine1 Publication
Modified residuei348 – 3481Phosphothreonine1 Publication
Modified residuei353 – 3531Phosphoserine1 Publication

Post-translational modificationi

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.1 Publication

Keywords - PTMi

ADP-ribosylation, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ9H2G9.
PaxDbiQ9H2G9.
PRIDEiQ9H2G9.

PTM databases

PhosphoSiteiQ9H2G9.

Expressioni

Tissue specificityi

Ubiquitous. Also found in cell lines derived from several hematopoietic pathologies, such as T-cell leukemia, pro-B, pre-B, myeloma, and plasmacytoma cell lines, but not in Burkitt lymphoma cells.3 Publications

Inductioni

Up-regulated by retinoids.2 Publications

Gene expression databases

ArrayExpressiQ9H2G9.
BgeeiQ9H2G9.
CleanExiHS_BLZF1.
GenevestigatoriQ9H2G9.

Organism-specific databases

HPAiHPA025703.
HPA027331.

Interactioni

Subunit structurei

Interacts with GORASP2 and with the GTP-bound form of RAB2, but not with other Golgi Rab proteins. GORASP2 and BLZF1 form a RAB2 effector complex on medial Golgi.1 Publication

Protein-protein interaction databases

BioGridi114118. 12 interactions.
IntActiQ9H2G9. 8 interactions.
MINTiMINT-4830863.
STRINGi9606.ENSP00000327541.

Structurei

3D structure databases

ProteinModelPortaliQ9H2G9.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni394 – 4007Essential for the interaction with GORASP2

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili120 – 21394 Reviewed predictionAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi18 – 225Tankyrase-binding motif

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

eggNOGiNOG279660.
HOGENOMiHOG000088649.
HOVERGENiHBG051750.
InParanoidiQ9H2G9.
OMAiQIDEQNE.
OrthoDBiEOG7P5T13.
PhylomeDBiQ9H2G9.
TreeFamiTF317238.

Family and domain databases

InterProiIPR027095. Golgin-45.
IPR013183. Hsk3_like.
[Graphical view]
PANTHERiPTHR13066. PTHR13066. 1 hit.
PfamiPF08227. DASH_Hsk3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MTTKNLETKV TVTSSPIRGA GDGMETEEPP KSVEVTSGVQ SRKHHSLQSP    50
WKKAVPSESP GVLQLGKMLT EKAMEVKAVR ILVPKAAITH DIPNKNTKVK 100
SLGHHKGEFL GQSEGVIEPN KELSEVKNVL EKLKNSERRL LQDKEGLSNQ 150
LRVQTEVNRE LKKLLVASVG DDLQYHFERL AREKNQLILE NEALGRNTAQ 200
LSEQLERMSI QCDVWRSKFL ASRVMADELT NSRAALQRQN RDAHGAIQDL 250
LSEREQFRQE MIATQKLLEE LLVSLQWGRE QTYSPSVQPH STAELALTNH 300
KLAKAVNSHL LGNVGINNQK KIPSTVEFCS TPAEKMAETV LRILDPVTCK 350
ESSPDNPFFE SSPTTLLATK KNIGRFHPYT RYENITFNCC NHCRGELIAL 400
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti40 – 401Q → R.
Corresponds to variant rs1028180 [ dbSNP | Ensembl ].
VAR_028142
Natural varianti196 – 1961R → Q.
Corresponds to variant rs1064274 [ dbSNP | Ensembl ].
VAR_028143

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei158 – 17417NRELK…GDDLQ → RRALIDKMSTTLYVWTF in isoform 2. VSP_011186Add
BLAST
Alternative sequencei175 – 400226Missing in isoform 2. VSP_011187Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti368 – 3681A → V in AAG37822. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. Translation: CAI19240.1.
AL356852 Genomic DNA. Translation: CAI19242.1.
CH471067 Genomic DNA. Translation: EAW90837.1.
BC020716 mRNA. Translation: AAH20716.1.
CCDSiCCDS1278.1. [Q9H2G9-1]
RefSeqiNP_003657.1. NM_003666.2. [Q9H2G9-1]
UniGeneiHs.130746.

Genome annotation databases

EnsembliENST00000329281; ENSP00000327541; ENSG00000117475. [Q9H2G9-1]
ENST00000367807; ENSP00000356781; ENSG00000117475. [Q9H2G9-2]
ENST00000367808; ENSP00000356782; ENSG00000117475. [Q9H2G9-1]
GeneIDi8548.
KEGGihsa:8548.
UCSCiuc001gfw.3. human. [Q9H2G9-2]
uc001gfx.2. human. [Q9H2G9-1]

Polymorphism databases

DMDMi116242501.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. Translation: CAI19240.1 .
AL356852 Genomic DNA. Translation: CAI19242.1 .
CH471067 Genomic DNA. Translation: EAW90837.1 .
BC020716 mRNA. Translation: AAH20716.1 .
CCDSi CCDS1278.1. [Q9H2G9-1 ]
RefSeqi NP_003657.1. NM_003666.2. [Q9H2G9-1 ]
UniGenei Hs.130746.

3D structure databases

ProteinModelPortali Q9H2G9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114118. 12 interactions.
IntActi Q9H2G9. 8 interactions.
MINTi MINT-4830863.
STRINGi 9606.ENSP00000327541.

PTM databases

PhosphoSitei Q9H2G9.

Polymorphism databases

DMDMi 116242501.

Proteomic databases

MaxQBi Q9H2G9.
PaxDbi Q9H2G9.
PRIDEi Q9H2G9.

Protocols and materials databases

DNASUi 8548.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000329281 ; ENSP00000327541 ; ENSG00000117475 . [Q9H2G9-1 ]
ENST00000367807 ; ENSP00000356781 ; ENSG00000117475 . [Q9H2G9-2 ]
ENST00000367808 ; ENSP00000356782 ; ENSG00000117475 . [Q9H2G9-1 ]
GeneIDi 8548.
KEGGi hsa:8548.
UCSCi uc001gfw.3. human. [Q9H2G9-2 ]
uc001gfx.2. human. [Q9H2G9-1 ]

Organism-specific databases

CTDi 8548.
GeneCardsi GC01P169337.
HGNCi HGNC:1065. BLZF1.
HPAi HPA025703.
HPA027331.
MIMi 608692. gene.
neXtProti NX_Q9H2G9.
PharmGKBi PA25375.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG279660.
HOGENOMi HOG000088649.
HOVERGENi HBG051750.
InParanoidi Q9H2G9.
OMAi QIDEQNE.
OrthoDBi EOG7P5T13.
PhylomeDBi Q9H2G9.
TreeFami TF317238.

Enzyme and pathway databases

Reactomei REACT_1100. Golgi Cisternae Pericentriolar Stack Reorganization.

Miscellaneous databases

GeneWikii BLZF1.
GenomeRNAii 8548.
NextBioi 32028.
PROi Q9H2G9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H2G9.
Bgeei Q9H2G9.
CleanExi HS_BLZF1.
Genevestigatori Q9H2G9.

Family and domain databases

InterProi IPR027095. Golgin-45.
IPR013183. Hsk3_like.
[Graphical view ]
PANTHERi PTHR13066. PTHR13066. 1 hit.
Pfami PF08227. DASH_Hsk3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "JEM-1, a novel gene encoding a leucine-zipper nuclear factor upregulated during retinoid-induced maturation of NB4 promyelocytic leukaemia."
    Duprez E., Tong J.-H., Derre J., Chen S.-J., Berger R., Chen Z., Lanotte M.
    Oncogene 14:1563-1570(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION.
  2. "Genomic organization of the JEM-1 (BLZF1) gene on human chromosome 1q24: molecular cloning and analysis of its promoter region."
    Tong J.-H., Fant X., Benoit G., Chen S.-J., Chen Z., Lanotte M.
    Genomics 69:380-390(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION.
  3. "A GRASP55-rab2 effector complex linking Golgi structure to membrane traffic."
    Short B., Preisinger C., Koerner R., Kopajtich R., Byron O., Barr F.A.
    J. Cell Biol. 155:877-883(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH GORASP2 AND THE GTP FORM OF RAB2, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Testis.
  4. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Liver.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-348 AND SER-353, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-49, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "RNF146 is a poly(ADP-ribose)-directed E3 ligase that regulates axin degradation and Wnt signalling."
    Zhang Y., Liu S., Mickanin C., Feng Y., Charlat O., Michaud G.A., Schirle M., Shi X., Hild M., Bauer A., Myer V.E., Finan P.M., Porter J.A., Huang S.M., Cong F.
    Nat. Cell Biol. 13:623-629(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: ADP-RIBOSYLATION, UBIQUITINATION, DOMAIN TANKYRASE-BINDING MOTIF.

Entry informationi

Entry nameiGO45_HUMAN
AccessioniPrimary (citable) accession number: Q9H2G9
Secondary accession number(s): O15298
, Q5T531, Q5T533, Q9GZX4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 17, 2006
Last modified: September 3, 2014
This is version 101 of the entry and version 2 of the sequence. [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

Caution

Because of the presence of a potential basic motif and leucine-zipper domain, 1 Publication and 1 Publication have thought that BLZF1 is a potential transcription factor. They found it localized in the nucleus, except isoform 2, which was cytoplasmic. However, homology at several typical position for basic or hydrophobic residues is missing.

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

External Data

Dasty 3

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