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Q15293

- RCN1_HUMAN

UniProt

Q15293 - RCN1_HUMAN

Protein

Reticulocalbin-1

Gene

RCN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 1 (01 Nov 1997)
      Previous versions | rss
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    Functioni

    May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Calcium bindingi92 – 103121PROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi128 – 139122; possibly ancestralPROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi179 – 190123PROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi216 – 227124PROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi257 – 268125PROSITE-ProRule annotationAdd
    BLAST
    Calcium bindingi293 – 304126; possibly ancestralPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. calcium ion binding Source: ProtInc
    2. protein binding Source: IntAct

    GO - Biological processi

    1. camera-type eye development Source: Ensembl
    2. in utero embryonic development Source: Ensembl

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Reticulocalbin-1
    Gene namesi
    Name:RCN1
    Synonyms:RCN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:9934. RCN1.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: HPA
    2. endoplasmic reticulum lumen Source: ProtInc

    Keywords - Cellular componenti

    Endoplasmic reticulum

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA34303.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2929Sequence AnalysisAdd
    BLAST
    Chaini30 – 331302Reticulocalbin-1PRO_0000004145Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi53 – 531N-linked (GlcNAc...)1 Publication
    Modified residuei76 – 761Phosphothreonine1 Publication

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ15293.
    PaxDbiQ15293.
    PeptideAtlasiQ15293.
    PRIDEiQ15293.

    PTM databases

    PhosphoSiteiQ15293.

    Expressioni

    Gene expression databases

    ArrayExpressiQ15293.
    BgeeiQ15293.
    CleanExiHS_RCN1.
    GenevestigatoriQ15293.

    Organism-specific databases

    HPAiHPA038474.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ATXN1P542533EBI-948278,EBI-930964

    Protein-protein interaction databases

    BioGridi111887. 47 interactions.
    IntActiQ15293. 21 interactions.
    MINTiMINT-2862561.
    STRINGi9606.ENSP00000054950.

    Structurei

    3D structure databases

    ProteinModelPortaliQ15293.
    SMRiQ15293. Positions 47-309.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini79 – 11436EF-hand 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini115 – 15036EF-hand 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini166 – 20136EF-hand 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini203 – 23836EF-hand 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini244 – 27936EF-hand 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini280 – 31536EF-hand 6PROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi328 – 3314Prevents secretion from ER

    Sequence similaritiesi

    Belongs to the CREC family.Curated
    Contains 6 EF-hand domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal

    Phylogenomic databases

    eggNOGiNOG271367.
    HOGENOMiHOG000230934.
    HOVERGENiHBG002834.
    InParanoidiQ15293.
    OMAiNPEEFQD.
    PhylomeDBiQ15293.
    TreeFamiTF314849.

    Family and domain databases

    Gene3Di1.10.238.10. 2 hits.
    InterProiIPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR002048. EF_hand_dom.
    IPR027241. Rcn1.
    [Graphical view]
    PANTHERiPTHR10827:SF17. PTHR10827:SF17. 1 hit.
    PfamiPF13405. EF-hand_6. 1 hit.
    PF13499. EF-hand_7. 2 hits.
    [Graphical view]
    SMARTiSM00054. EFh. 3 hits.
    [Graphical view]
    PROSITEiPS00018. EF_HAND_1. 4 hits.
    PS50222. EF_HAND_2. 6 hits.
    PS00014. ER_TARGET. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q15293-1) [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

    MARGGRGRRL GLALGLLLAL VLAPRVLRAK PTVRKERVVR PDSELGERPP    50
    EDNQSFQYDH EAFLGKEDSK TFDQLTPDES KERLGKIVDR IDNDGDGFVT 100
    TEELKTWIKR VQKRYIFDNV AKVWKDYDRD KDDKISWEEY KQATYGYYLG 150
    NPAEFHDSSD HHTFKKMLPR DERRFKAADL NGDLTATREE FTAFLHPEEF 200
    EHMKEIVVLE TLEDIDKNGD GFVDQDEYIA DMFSHEENGP EPDWVLSERE 250
    QFNEFRDLNK DGKLDKDEIR HWILPQDYDH AQAEARHLVY ESDKNKDEKL 300
    TKEEILENWN MFVGSQATNY GEDLTKNHDE L 331
    Length:331
    Mass (Da):38,890
    Last modified:November 1, 1997 - v1
    Checksum:i608AAD536963F789
    GO
    Isoform 2 (identifier: Q15293-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-85: MARGGRGRRL...TPDESKERLG → MTGGEGPLPTAKQATCSPPSSRERNPRRRGSRPR

    Note: No experimental confirmation available.

    Show »
    Length:280
    Mass (Da):33,026
    Checksum:iE62F120400DF5918
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti71 – 711T → N.
    Corresponds to variant rs1061145 [ dbSNP | Ensembl ].
    VAR_011964
    Natural varianti73 – 731D → Y.
    Corresponds to variant rs1804281 [ dbSNP | Ensembl ].
    VAR_011965
    Natural varianti74 – 741Q → E.
    Corresponds to variant rs1061143 [ dbSNP | Ensembl ].
    VAR_011966
    Natural varianti117 – 1171F → L in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035460
    Natural varianti188 – 1881R → P.
    Corresponds to variant rs1061080 [ dbSNP | Ensembl ].
    VAR_011967

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 8585MARGG…KERLG → MTGGEGPLPTAKQATCSPPS SRERNPRRRGSRPR in isoform 2. 1 PublicationVSP_055511Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D42073 mRNA. Translation: BAA07670.1.
    AK293652 mRNA. Translation: BAH11557.1.
    AL035078 Genomic DNA. No translation available.
    AL049635 Genomic DNA. No translation available.
    AL078612 Genomic DNA. No translation available.
    AL138970 Genomic DNA. No translation available.
    Z95332 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW68227.1.
    CH471064 Genomic DNA. Translation: EAW68228.1.
    BC010120 mRNA. Translation: AAH10120.1.
    CCDSiCCDS7876.1.
    PIRiJC4173.
    RefSeqiNP_002892.1. NM_002901.2.
    UniGeneiHs.97887.

    Genome annotation databases

    EnsembliENST00000054950; ENSP00000054950; ENSG00000049449. [Q15293-1]
    ENST00000532942; ENSP00000436422; ENSG00000049449. [Q15293-2]
    GeneIDi5954.
    KEGGihsa:5954.
    UCSCiuc010reb.2. human.

    Polymorphism databases

    DMDMi2493462.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D42073 mRNA. Translation: BAA07670.1 .
    AK293652 mRNA. Translation: BAH11557.1 .
    AL035078 Genomic DNA. No translation available.
    AL049635 Genomic DNA. No translation available.
    AL078612 Genomic DNA. No translation available.
    AL138970 Genomic DNA. No translation available.
    Z95332 Genomic DNA. No translation available.
    CH471064 Genomic DNA. Translation: EAW68227.1 .
    CH471064 Genomic DNA. Translation: EAW68228.1 .
    BC010120 mRNA. Translation: AAH10120.1 .
    CCDSi CCDS7876.1.
    PIRi JC4173.
    RefSeqi NP_002892.1. NM_002901.2.
    UniGenei Hs.97887.

    3D structure databases

    ProteinModelPortali Q15293.
    SMRi Q15293. Positions 47-309.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111887. 47 interactions.
    IntActi Q15293. 21 interactions.
    MINTi MINT-2862561.
    STRINGi 9606.ENSP00000054950.

    PTM databases

    PhosphoSitei Q15293.

    Polymorphism databases

    DMDMi 2493462.

    Proteomic databases

    MaxQBi Q15293.
    PaxDbi Q15293.
    PeptideAtlasi Q15293.
    PRIDEi Q15293.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000054950 ; ENSP00000054950 ; ENSG00000049449 . [Q15293-1 ]
    ENST00000532942 ; ENSP00000436422 ; ENSG00000049449 . [Q15293-2 ]
    GeneIDi 5954.
    KEGGi hsa:5954.
    UCSCi uc010reb.2. human.

    Organism-specific databases

    CTDi 5954.
    GeneCardsi GC11P031815.
    HGNCi HGNC:9934. RCN1.
    HPAi HPA038474.
    MIMi 602735. gene.
    neXtProti NX_Q15293.
    PharmGKBi PA34303.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG271367.
    HOGENOMi HOG000230934.
    HOVERGENi HBG002834.
    InParanoidi Q15293.
    OMAi NPEEFQD.
    PhylomeDBi Q15293.
    TreeFami TF314849.

    Miscellaneous databases

    GeneWikii RCN1.
    GenomeRNAii 5954.
    NextBioi 23188.
    PROi Q15293.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15293.
    Bgeei Q15293.
    CleanExi HS_RCN1.
    Genevestigatori Q15293.

    Family and domain databases

    Gene3Di 1.10.238.10. 2 hits.
    InterProi IPR011992. EF-hand-dom_pair.
    IPR018247. EF_Hand_1_Ca_BS.
    IPR002048. EF_hand_dom.
    IPR027241. Rcn1.
    [Graphical view ]
    PANTHERi PTHR10827:SF17. PTHR10827:SF17. 1 hit.
    Pfami PF13405. EF-hand_6. 1 hit.
    PF13499. EF-hand_7. 2 hits.
    [Graphical view ]
    SMARTi SM00054. EFh. 3 hits.
    [Graphical view ]
    PROSITEi PS00018. EF_HAND_1. 4 hits.
    PS50222. EF_HAND_2. 6 hits.
    PS00014. ER_TARGET. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of a human homologue of mouse reticulocalbin reveals conservation of structural domains in the novel endoplasmic reticulum resident Ca(2+)-binding protein with multiple EF-hand motifs."
      Ozawa M.
      J. Biochem. 117:1113-1119(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Cerebellum.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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: Ovary.
    6. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-53.
      Tissue: Liver.
    7. "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 THR-76, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-117.

    Entry informationi

    Entry nameiRCN1_HUMAN
    AccessioniPrimary (citable) accession number: Q15293
    Secondary accession number(s): B7Z1M1, D3DR00
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1997
    Last modified: October 1, 2014
    This is version 132 of the entry and version 1 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

    Miscellaneous

    This protein has four functional calcium-binding sites; potential sites II and VI have lost affinity for calcium.By similarity

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3