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    CALU calumenin [ Homo sapiens ]

    Gene ID: 813, updated on 11-May-2012
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    Summary

    Official Symbol
    CALUprovided by HGNC
    Official Full Name
    calumeninprovided by HGNC
    Primary source
    HGNC:1458
    See related
    Ensembl:ENSG00000128595; HPRD:04569; MIM:603420; Vega:OTTHUMG00000158274
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FLJ90608
    Summary
    The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
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    Genomic context

    Location :
    7q32.1
    Sequence :
    Chromosome: 7; NC_000007.13 (128379346..128413477)
    See CALU in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 71, member F2 Neighboring gene family with sequence similarity 71, member F1 Neighboring gene opsin 1 (cone pigments), short-wave-sensitive Neighboring gene coiled-coil domain containing 136 Neighboring gene filamin C, gamma

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    3. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    4. Impact of pharmacokinetic (CYP2C9) and pharmacodynamic (VKORC1, F7, GGCX, CALU, EPHX1) gene variants on the initiation and maintenance phases of phenprocoumon therapy. Luxembourg B, et al. Thromb Haemost, 2011 Jan. PMID 21057703.
    5. CALU A29809G polymorphism in coronary atherothrombosis: Implications for coronary calcification and prognosis. Hernández-Romero D, et al. Ann Med, 2010 Sep. PMID 20673165.

    See all (43) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. associated with arterial calcification and short-term prognosis of the outcome of patients with non-ST-elevation acute coronary syndrome
      Title: CALU A29809G polymorphism in coronary atherothrombosis: Implications for coronary calcification and prognosis.
    2. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Genetic determinants of acenocoumarol and phenprocoumon maintenance dose requirements.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Impact of pharmacokinetic (CYP2C9) and pharmacodynamic (VKORC1, F7, GGCX, CALU, EPHX1) gene variants on the initiation and maintenance phases of phenprocoumon therapy.
    4. Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Application of Akaike information criterion to evaluate warfarin dosing algorithm.
    5. Data show that calumenin in the presence of calcium binds specifically to thrombospondin-1, but closely-related reticulocalbin does not form a similar complex.
      Title: Calumenin but not reticulocalbin forms a Ca2+-dependent complex with thrombospondin-1. A potential role in haemostasis and thrombosis.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: CALU A29809G polymorphism in coronary atherothrombosis: Implications for coronary calcification and prognosis.
    7. Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: The genetic interaction between VKORC1 c1173t and calumenin a29809g modulates the anticoagulant response of acenocoumarol.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O43852 P02743 APCS    HPRD  PubMed  
    BioGRID:107263 BioGRID:106822 APCS    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107263 BioGRID:112666 AURKA    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107263 BioGRID:215010 Mad2l2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107263 BioGRID:211970 Mis12    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107263 BioGRID:204197 Trim28    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107263 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
    		  
    blood coagulation TAS
    Traceable Author Statement
    more info
    		  
    platelet activation TAS
    Traceable Author Statement
    more info
    		  
    platelet degranulation TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    Golgi apparatus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    melanosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    sarcoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    calumenin
    Names
    calumenin
    crocalbin
    IEF SSP 9302
    crocalbin-like protein
    multiple EF-hand protein
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001130674.2 → NP_001124146.1  calumenin isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate in-frame exon, compared to variant 1. The resulting isoform (b) is of the same length but has a different internal segment, compared to isoform a.
      Source sequence(s)
      AC024952, AF345637, BF438624, HM002611
      Consensus CDS
      CCDS47703.1
      UniProtKB/TrEMBL
      D6QS54
      UniProtKB/Swiss-Prot
      O43852
      Related
      ENSP00000408838, OTTHUMP00000212713, ENST00000449187, OTTHUMT00000350534
      Conserved Domains (2) summary
      cd00051
      Location:157 – 214
      Blast Score: 90
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:78 – 129
      Blast Score: 82
      EF_hand_5; EF-hand domain pair

    2. NM_001199671.1 → NP_001186600.1  calumenin isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an additional exon in the 5' region, introducing an in-frame upstream AUG start codon, compared to variant 1. The resulting isoform (c) has a longer N-terminus, compared to isoform a.
      Source sequence(s)
      AC024952, AK056338, BF438624, HM002604
      Consensus CDS
      CCDS56506.1
      Related
      ENSP00000420381, OTTHUMP00000212714, ENST00000479257, OTTHUMT00000350535
      Conserved Domains (2) summary
      cd00051
      Location:165 – 222
      Blast Score: 90
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:86 – 140
      Blast Score: 86
      EF_hand_5; EF-hand domain pair

    3. NM_001199672.1 → NP_001186601.1  calumenin isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an additional exon in the 5' region, introducing an in-frame upstream AUG start codon, and has an alternate in-frame coding exon, compared to variant 1. The resulting isoform (d) has a longer N-terminus and a different internal segment, compared to isoform a.
      Source sequence(s)
      AC024952, AK056338, BF438624, HM002605, HM002606
      Consensus CDS
      CCDS56507.1
      UniProtKB/TrEMBL
      D6QS49
      Related
      ENSP00000438248, ENST00000542996
      Conserved Domains (2) summary
      cd00051
      Location:165 – 222
      Blast Score: 90
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:86 – 137
      Blast Score: 81
      EF_hand_5; EF-hand domain pair

    4. NM_001199673.1 → NP_001186602.1  calumenin isoform e precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks a coding exon in the 3' region, resulting in frame-shift, compared to variant 1. The resulting isoform (e) has a shorter and different C-terminus, compared to isoform a.
      Source sequence(s)
      AC024952, BC013383, BF438624, HM002611
      Consensus CDS
      CCDS56508.1
      UniProtKB/TrEMBL
      D6QS54
      UniProtKB/TrEMBL
      F5H879
      UniProtKB/Swiss-Prot
      O43852
      Related
      ENSP00000442110, ENST00000535011
      Conserved Domains (2) summary
      cd00051
      Location:157 – 216
      Blast Score: 94
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:78 – 132
      Blast Score: 89
      EF_hand_5; EF-hand domain pair

    5. NM_001199674.1 → NP_001186603.1  calumenin isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two consecutive exons in the 5' region, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (f) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC024952, BC013383, BF438624, HM002616
      Consensus CDS
      CCDS56509.1
      UniProtKB/TrEMBL
      D6QS59
      UniProtKB/TrEMBL
      F5H1Q9
      UniProtKB/Swiss-Prot
      O43852
      Related
      ENSP00000438994, ENST00000538546
      Conserved Domains (1) summary
      cd00051
      Location:6 – 63
      Blast Score: 84
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    6. NM_001219.4 → NP_001210.1  calumenin isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the predominant isoform (a).
      Source sequence(s)
      AC024952, AK074862, BF438624, HM002604, HM002611
      Consensus CDS
      CCDS5805.1
      UniProtKB/TrEMBL
      B3KQF5
      UniProtKB/TrEMBL
      D6QS54
      UniProtKB/Swiss-Prot
      O43852
      UniProtKB/TrEMBL
      Q6IAW5
      Related
      ENSP00000249364, OTTHUMP00000212712, ENST00000249364, OTTHUMT00000350533
      Conserved Domains (2) summary
      cd00051
      Location:157 – 214
      Blast Score: 90
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:78 – 132
      Blast Score: 86
      EF_hand_5; EF-hand domain pair

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p5 Primary Assembly

      Range
      128379346..128413477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      122740343..122774461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      127762331..127796461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC024952.4 (23837..57721) None
    genomic CH236950.1 EAL24113.1
    genomic CH471070.1 EAW83674.1
      EAW83675.1
      EAW83676.1
      EAW83677.1
      EAW83678.1
      EAW83679.1
    mRNA AF013759.1 AAC17216.1
    mRNA AF257659.1 AAF76141.1
    mRNA AF345637.1 AAK72908.1
    mRNA AK027460.1 BAG51328.1
    mRNA AK056338.1 BAG51681.1
    mRNA AK074862.1 BAG52017.1
    mRNA AK075089.1 BAG52065.1
    mRNA AK312446.1 BAG35353.1
    mRNA AW068942.1 None
    mRNA BC013383.2 AAH13383.1
    mRNA BF438624.1 None
    mRNA BT006826.1 AAP35472.1
    mRNA BT020143.1 AAV38945.1
    mRNA BX091230.1 None
    mRNA CR457039.1 CAG33320.1
    mRNA CR541835.1 CAG46634.1
    mRNA DA023987.1 None
    mRNA DA703012.1 None
    mRNA HM002604.1 ADG45004.1
    mRNA HM002605.1 ADG45005.1
    mRNA HM002606.1 ADG45006.1
    mRNA HM002607.1 ADG45007.1
    mRNA HM002609.1 ADG45009.1
    mRNA HM002610.1 ADG45010.1
    mRNA HM002611.1 ADG45011.1
    mRNA HM002613.1 ADG45013.1
    mRNA HM002615.1 ADG45015.1
    mRNA HM002616.1 ADG45016.1
    mRNA U67280.1 AAB97725.1
    other-genetic AM392586.1 CAL37464.1
    other-genetic AM392589.1 CAL37467.1
    other-genetic AM392627.1 CAL37505.1
    other-genetic AM392679.1 CAL37557.1
    other-genetic AM392710.1 CAL37588.1
    other-genetic AM392818.1 CAL37696.1
    other-genetic AM392956.1 CAL37834.1
    other-genetic AM393000.1 CAL37878.1
    other-genetic AM393029.1 CAL37907.1
    other-genetic AM393109.1 CAL37987.1
    other-genetic AM393182.1 CAL38060.1
    other-genetic AM393263.1 CAL38141.1
    other-genetic AM393389.1 CAL38267.1
    other-genetic AM393458.1 CAL38335.1
    other-genetic AM393759.1 CAL38634.1
    other-genetic AM393816.1 CAL38691.1
    other-genetic DQ892233.2 ABM83159.1
    other-genetic DQ895434.2 ABM86360.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43852.2 GenPept UniProtKB/Swiss-Prot:O43852
    Q6IAW5 GenPept UniProtKB/TrEMBL:Q6IAW5
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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