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Q6PJW8

- CNST_HUMAN

UniProt

Q6PJW8 - CNST_HUMAN

Protein

Consortin

Gene

CNST

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 3 (11 Jan 2011)
      Previous versions | rss
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    Functioni

    Required for targeting of connexins to the plasma membrane.1 Publication

    GO - Molecular functioni

    1. connexin binding Source: UniProtKB
    2. phosphatase binding Source: UniProtKB
    3. protein binding Source: IntAct

    GO - Biological processi

    1. negative regulation of phosphatase activity Source: UniProtKB
    2. positive regulation of Golgi to plasma membrane protein transport Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Consortin
    Gene namesi
    Name:CNST
    Synonyms:C1orf71
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:26486. CNST.

    Subcellular locationi

    Cell membrane 1 Publication; Single-pass membrane protein 1 Publication. Golgi apparatustrans-Golgi network membrane 1 Publication; Single-pass membrane protein 1 Publication. Cytoplasmic vesiclesecretory vesicle 1 Publication
    Note: Located predominantly in the trans-Golgi network. Probably trafficks between the trans-Golgi network and the cell membrane via the secretory pathway.

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. membrane Source: UniProtKB
    3. plasma membrane Source: UniProtKB
    4. protein complex Source: LIFEdb
    5. trans-Golgi network Source: UniProtKB
    6. transport vesicle Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Cytoplasmic vesicle, Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA165751017.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 725725ConsortinPRO_0000288906Add
    BLAST

    Proteomic databases

    MaxQBiQ6PJW8.
    PaxDbiQ6PJW8.
    PRIDEiQ6PJW8.

    PTM databases

    PhosphoSiteiQ6PJW8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6PJW8.
    BgeeiQ6PJW8.
    CleanExiHS_C1orf71.
    GenevestigatoriQ6PJW8.

    Organism-specific databases

    HPAiHPA007225.

    Interactioni

    Subunit structurei

    Interacts with connexins GJA1/CX43, GJB1/CX32, GJB2/CX26, GJB3/CX31, GJB6/CX30 and GJC1/CX45. Also interacts with GGA1 and GGA2. Does not interact with PANX1 By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    PPP1CAP621363EBI-750390,EBI-357253

    Protein-protein interaction databases

    BioGridi127882. 13 interactions.
    IntActiQ6PJW8. 7 interactions.
    MINTiMINT-4722440.
    STRINGi9606.ENSP00000355470.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6PJW8.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 664664CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini686 – 72540ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei665 – 68521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the CNST family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG29134.
    HOVERGENiHBG098332.
    InParanoidiQ6PJW8.
    KOiK17581.
    OMAiKHWIYLS.
    OrthoDBiEOG708VZD.
    PhylomeDBiQ6PJW8.
    TreeFamiTF351172.

    Family and domain databases

    InterProiIPR028129. Consortin_C.
    [Graphical view]
    PfamiPF15281. Consortin_C. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6PJW8-1) [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

    MDDSDTPTYY LQIEPQDGCH PGDSVERSVT CLPSASDENE NQLDGDGHEH    50
    LTSSDSAMGK PQVSEQDSLN NNESCTLSCE VAAGENLQNT LCEASRDEQA 100
    FLGKDKKIPG KRSPRSKKGT AKKIPPGLFS GDIAPLMQEK VLSAVTYAVD 150
    DEEAAEVNAN EQPEAPKLVL QSLFSLIRGE VEQLDSRALP LCLHQIAESY 200
    FQEEDYEKAM KFIQLERLYH EQLLANLSAI QEQWETKWKT VQPHTVTALR 250
    NSEKGFNGED FERLTKICAT HQDPLLSKHK IAAVEKSQER KCSTQLLVSE 300
    DPKEGGATTK ESESKTCLGT ESSKESQHTV EPLGSSPCCH QMDVQTDSPS 350
    LSVTAGKDHM EELLCSAEAT LALHTQSSET AGSPSGPDSS EDACEDDSRL 400
    QLAQTEACQD VARIEGIAED PKVFLSSKSK TEPLISPGCD RIPPALISEG 450
    KYSQAQRKEL RLPLRDASEA LPTDQLENNE LNELQQPDLT DSDGKSPQAQ 500
    ADSDGSENVL CGNNQISDLG ILLPEVCMAP EEKGDKDDQL NKETEDYLNS 550
    LLEGCLKDTE DSLSYEDNQD DDSDLLQDLS PEEASYSLQE NLPSDESCLS 600
    LDDLAKRIEI AEVVPTEGLV SILKKRNDTV GDHPAQMQHK PSKRRVRFQE 650
    IDDSLDQDEV GGGSCILLVL LCIATVFLSV GGTALYCTFG DMESPVCTDF 700
    ADNMDFYYTK LLQGVAELKH WIYLS 725
    Length:725
    Mass (Da):79,597
    Last modified:January 11, 2011 - v3
    Checksum:iC32AF9E17D98C389
    GO
    Isoform 2 (identifier: Q6PJW8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         614-616: VPT → NQR
         617-725: Missing.

    Show »
    Length:616
    Mass (Da):67,541
    Checksum:i393E0FF7F5443B97
    GO
    Isoform 3 (identifier: Q6PJW8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         235-263: ETKWKTVQPHTVTALRNSEKGFNGEDFER → GKYRPTWNVELAVIQQVTIYKINIFDLVL
         264-725: Missing.

    Show »
    Length:263
    Mass (Da):29,306
    Checksum:i0766B36B9C03DB68
    GO

    Sequence cautioni

    The sequence BAB84968.1 differs from that shown. Reason: Frameshift at position 237.
    The sequence BAC03735.1 differs from that shown. Reason: Frameshift at position 412.
    The sequence CAD38922.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti246 – 2461V → L in BAB84968. (PubMed:14702039)Curated
    Sequence conflicti331 – 3311E → Q in CAD38922. (PubMed:17974005)Curated
    Sequence conflicti393 – 3942AC → GR in CAD38922. (PubMed:17974005)Curated
    Sequence conflicti689 – 6891F → L in BAC03735. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281S → N.
    Corresponds to variant rs35286882 [ dbSNP | Ensembl ].
    VAR_032530
    Natural varianti87 – 871L → S.3 Publications
    Corresponds to variant rs6702823 [ dbSNP | Ensembl ].
    VAR_032531
    Natural varianti183 – 1831Q → R.
    Corresponds to variant rs12091148 [ dbSNP | Ensembl ].
    VAR_056762
    Natural varianti399 – 3991R → C.
    Corresponds to variant rs12075111 [ dbSNP | Ensembl ].
    VAR_032532

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei235 – 26329ETKWK…EDFER → GKYRPTWNVELAVIQQVTIY KINIFDLVL in isoform 3. 1 PublicationVSP_025817Add
    BLAST
    Alternative sequencei264 – 725462Missing in isoform 3. 1 PublicationVSP_025818Add
    BLAST
    Alternative sequencei614 – 6163VPT → NQR in isoform 2. 1 PublicationVSP_025819
    Alternative sequencei617 – 725109Missing in isoform 2. 1 PublicationVSP_025820Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK056563 mRNA. Translation: BAB71218.1.
    AK074142 mRNA. Translation: BAB84968.1. Frameshift.
    AK091739 mRNA. Translation: BAC03735.1. Frameshift.
    AL834246 mRNA. Translation: CAD38922.2. Different initiation.
    AL591623, AL646019 Genomic DNA. Translation: CAH70030.1.
    AL591623 Genomic DNA. Translation: CAH70032.1.
    AL646019, AL591623 Genomic DNA. Translation: CAH73934.1.
    BC010228 mRNA. Translation: AAH10228.1.
    BC036200 mRNA. Translation: AAH36200.1.
    CCDSiCCDS1628.1. [Q6PJW8-1]
    CCDS44343.1. [Q6PJW8-2]
    RefSeqiNP_001132931.1. NM_001139459.1. [Q6PJW8-2]
    NP_689822.2. NM_152609.2. [Q6PJW8-1]
    UniGeneiHs.368353.

    Genome annotation databases

    EnsembliENST00000366512; ENSP00000355469; ENSG00000162852. [Q6PJW8-2]
    ENST00000366513; ENSP00000355470; ENSG00000162852. [Q6PJW8-1]
    GeneIDi163882.
    KEGGihsa:163882.
    UCSCiuc001ibo.4. human. [Q6PJW8-2]
    uc001ibp.3. human. [Q6PJW8-1]

    Polymorphism databases

    DMDMi317373449.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK056563 mRNA. Translation: BAB71218.1 .
    AK074142 mRNA. Translation: BAB84968.1 . Frameshift.
    AK091739 mRNA. Translation: BAC03735.1 . Frameshift.
    AL834246 mRNA. Translation: CAD38922.2 . Different initiation.
    AL591623 , AL646019 Genomic DNA. Translation: CAH70030.1 .
    AL591623 Genomic DNA. Translation: CAH70032.1 .
    AL646019 , AL591623 Genomic DNA. Translation: CAH73934.1 .
    BC010228 mRNA. Translation: AAH10228.1 .
    BC036200 mRNA. Translation: AAH36200.1 .
    CCDSi CCDS1628.1. [Q6PJW8-1 ]
    CCDS44343.1. [Q6PJW8-2 ]
    RefSeqi NP_001132931.1. NM_001139459.1. [Q6PJW8-2 ]
    NP_689822.2. NM_152609.2. [Q6PJW8-1 ]
    UniGenei Hs.368353.

    3D structure databases

    ProteinModelPortali Q6PJW8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127882. 13 interactions.
    IntActi Q6PJW8. 7 interactions.
    MINTi MINT-4722440.
    STRINGi 9606.ENSP00000355470.

    PTM databases

    PhosphoSitei Q6PJW8.

    Polymorphism databases

    DMDMi 317373449.

    Proteomic databases

    MaxQBi Q6PJW8.
    PaxDbi Q6PJW8.
    PRIDEi Q6PJW8.

    Protocols and materials databases

    DNASUi 163882.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000366512 ; ENSP00000355469 ; ENSG00000162852 . [Q6PJW8-2 ]
    ENST00000366513 ; ENSP00000355470 ; ENSG00000162852 . [Q6PJW8-1 ]
    GeneIDi 163882.
    KEGGi hsa:163882.
    UCSCi uc001ibo.4. human. [Q6PJW8-2 ]
    uc001ibp.3. human. [Q6PJW8-1 ]

    Organism-specific databases

    CTDi 163882.
    GeneCardsi GC01P246730.
    H-InvDB HIX0001762.
    HGNCi HGNC:26486. CNST.
    HPAi HPA007225.
    MIMi 613439. gene.
    neXtProti NX_Q6PJW8.
    PharmGKBi PA165751017.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG29134.
    HOVERGENi HBG098332.
    InParanoidi Q6PJW8.
    KOi K17581.
    OMAi KHWIYLS.
    OrthoDBi EOG708VZD.
    PhylomeDBi Q6PJW8.
    TreeFami TF351172.

    Miscellaneous databases

    ChiTaRSi CNST. human.
    GeneWikii C1orf71.
    GenomeRNAii 163882.
    NextBioi 88417.
    PROi Q6PJW8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6PJW8.
    Bgeei Q6PJW8.
    CleanExi HS_C1orf71.
    Genevestigatori Q6PJW8.

    Family and domain databases

    InterProi IPR028129. Consortin_C.
    [Graphical view ]
    Pfami PF15281. Consortin_C. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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 1), VARIANT SER-87.
      Tissue: Spleen and Teratocarcinoma.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT SER-87.
      Tissue: Skeletal muscle.
    3. "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].
    4. "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] (ISOFORMS 2 AND 3), VARIANT SER-87.
      Tissue: Brain and Testis.
    5. "Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins."
      del Castillo F.J., Cohen-Salmon M., Charollais A., Caille D., Lampe P.D., Chavrier P., Meda P., Petit C.
      Hum. Mol. Genet. 19:262-275(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TOPOLOGY, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiCNST_HUMAN
    AccessioniPrimary (citable) accession number: Q6PJW8
    Secondary accession number(s): Q5VSY9
    , Q5VTM7, Q8IYA9, Q8N3L5, Q8NB09, Q8TEI2, Q96MR5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 29, 2007
    Last sequence update: January 11, 2011
    Last modified: October 1, 2014
    This is version 88 of the entry and version 3 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

    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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3