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Q9H2G9

- GO45_HUMAN

UniProt

Q9H2G9 - GO45_HUMAN

Protein

Golgin-45

Gene

BLZF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

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

    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.1 Publication
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    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 – 21394Sequence AnalysisAdd
    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti368 – 3681A → V in AAG37822. (PubMed:11056056)Curated

    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. 1 PublicationVSP_011186Add
    BLAST
    Alternative sequencei175 – 400226Missing in isoform 2. 1 PublicationVSP_011187Add
    BLAST

    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

    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: October 1, 2014
    This is version 102 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, PubMed:9129147 and PubMed:11056056 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.Curated

    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