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Q6PJW8

- CNST_HUMAN

UniProt

Q6PJW8 - CNST_HUMAN

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Protein

Consortin

Gene

CNST

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

GO - Biological processi

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

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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 664664CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei665 – 68521HelicalSequence AnalysisAdd
BLAST
Topological domaini686 – 72540ExtracellularSequence AnalysisAdd
BLAST

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
Complete GO annotation...

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

BgeeiQ6PJW8.
CleanExiHS_C1orf71.
ExpressionAtlasiQ6PJW8. baseline and differential.
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...

Family & Domainsi

Sequence similaritiesi

Belongs to the CNST family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG29134.
GeneTreeiENSGT00390000005861.
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

        10         20         30         40         50
MDDSDTPTYY LQIEPQDGCH PGDSVERSVT CLPSASDENE NQLDGDGHEH
60 70 80 90 100
LTSSDSAMGK PQVSEQDSLN NNESCTLSCE VAAGENLQNT LCEASRDEQA
110 120 130 140 150
FLGKDKKIPG KRSPRSKKGT AKKIPPGLFS GDIAPLMQEK VLSAVTYAVD
160 170 180 190 200
DEEAAEVNAN EQPEAPKLVL QSLFSLIRGE VEQLDSRALP LCLHQIAESY
210 220 230 240 250
FQEEDYEKAM KFIQLERLYH EQLLANLSAI QEQWETKWKT VQPHTVTALR
260 270 280 290 300
NSEKGFNGED FERLTKICAT HQDPLLSKHK IAAVEKSQER KCSTQLLVSE
310 320 330 340 350
DPKEGGATTK ESESKTCLGT ESSKESQHTV EPLGSSPCCH QMDVQTDSPS
360 370 380 390 400
LSVTAGKDHM EELLCSAEAT LALHTQSSET AGSPSGPDSS EDACEDDSRL
410 420 430 440 450
QLAQTEACQD VARIEGIAED PKVFLSSKSK TEPLISPGCD RIPPALISEG
460 470 480 490 500
KYSQAQRKEL RLPLRDASEA LPTDQLENNE LNELQQPDLT DSDGKSPQAQ
510 520 530 540 550
ADSDGSENVL CGNNQISDLG ILLPEVCMAP EEKGDKDDQL NKETEDYLNS
560 570 580 590 600
LLEGCLKDTE DSLSYEDNQD DDSDLLQDLS PEEASYSLQE NLPSDESCLS
610 620 630 640 650
LDDLAKRIEI AEVVPTEGLV SILKKRNDTV GDHPAQMQHK PSKRRVRFQE
660 670 680 690 700
IDDSLDQDEV GGGSCILLVL LCIATVFLSV GGTALYCTFG DMESPVCTDF
710 720
ADNMDFYYTK LLQGVAELKH WIYLS
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. Curated
The sequence BAC03735.1 differs from that shown. Reason: Frameshift at position 412. Curated
The sequence CAD38922.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00390000005861.
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

Bgeei Q6PJW8.
CleanExi HS_C1orf71.
ExpressionAtlasi Q6PJW8. baseline and differential.
Genevestigatori Q6PJW8.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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 29, 2014
This is version 89 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