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Q6PJW8 (CNST_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Consortin
Gene names
Name:CNST
Synonyms:C1orf71
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length725 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for targeting of connexins to the plasma membrane. Ref.5

Subunit structure

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.

Subcellular location

Cell membrane; Single-pass membrane protein. Golgi apparatustrans-Golgi network membrane; Single-pass membrane protein. Cytoplasmic vesiclesecretory vesicle. Note: Located predominantly in the trans-Golgi network. Probably trafficks between the trans-Golgi network and the cell membrane via the secretory pathway. Ref.5

Sequence similarities

Belongs to the CNST family.

Sequence caution

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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PPP1CAP621363EBI-750390,EBI-357253

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6PJW8-1)

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.
Isoform 2 (identifier: Q6PJW8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     614-616: VPT → NQR
     617-725: Missing.
Isoform 3 (identifier: Q6PJW8-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 725725Consortin
PRO_0000288906

Regions

Topological domain1 – 664664Cytoplasmic Potential
Transmembrane665 – 68521Helical; Potential
Topological domain686 – 72540Extracellular Potential

Natural variations

Alternative sequence235 – 26329ETKWK…EDFER → GKYRPTWNVELAVIQQVTIY KINIFDLVL in isoform 3.
VSP_025817
Alternative sequence264 – 725462Missing in isoform 3.
VSP_025818
Alternative sequence614 – 6163VPT → NQR in isoform 2.
VSP_025819
Alternative sequence617 – 725109Missing in isoform 2.
VSP_025820
Natural variant281S → N.
Corresponds to variant rs35286882 [ dbSNP | Ensembl ].
VAR_032530
Natural variant871L → S. Ref.1 Ref.2 Ref.4
Corresponds to variant rs6702823 [ dbSNP | Ensembl ].
VAR_032531
Natural variant1831Q → R.
Corresponds to variant rs12091148 [ dbSNP | Ensembl ].
VAR_056762
Natural variant3991R → C.
Corresponds to variant rs12075111 [ dbSNP | Ensembl ].
VAR_032532

Experimental info

Sequence conflict2461V → L in BAB84968. Ref.1
Sequence conflict3311E → Q in CAD38922. Ref.2
Sequence conflict393 – 3942AC → GR in CAD38922. Ref.2
Sequence conflict6891F → L in BAC03735. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 11, 2011. Version 3.
Checksum: C32AF9E17D98C389

FASTA72579,597
        10         20         30         40         50         60 
MDDSDTPTYY LQIEPQDGCH PGDSVERSVT CLPSASDENE NQLDGDGHEH LTSSDSAMGK 

        70         80         90        100        110        120 
PQVSEQDSLN NNESCTLSCE VAAGENLQNT LCEASRDEQA FLGKDKKIPG KRSPRSKKGT 

       130        140        150        160        170        180 
AKKIPPGLFS GDIAPLMQEK VLSAVTYAVD DEEAAEVNAN EQPEAPKLVL QSLFSLIRGE 

       190        200        210        220        230        240 
VEQLDSRALP LCLHQIAESY FQEEDYEKAM KFIQLERLYH EQLLANLSAI QEQWETKWKT 

       250        260        270        280        290        300 
VQPHTVTALR NSEKGFNGED FERLTKICAT HQDPLLSKHK IAAVEKSQER KCSTQLLVSE 

       310        320        330        340        350        360 
DPKEGGATTK ESESKTCLGT ESSKESQHTV EPLGSSPCCH QMDVQTDSPS LSVTAGKDHM 

       370        380        390        400        410        420 
EELLCSAEAT LALHTQSSET AGSPSGPDSS EDACEDDSRL QLAQTEACQD VARIEGIAED 

       430        440        450        460        470        480 
PKVFLSSKSK TEPLISPGCD RIPPALISEG KYSQAQRKEL RLPLRDASEA LPTDQLENNE 

       490        500        510        520        530        540 
LNELQQPDLT DSDGKSPQAQ ADSDGSENVL CGNNQISDLG ILLPEVCMAP EEKGDKDDQL 

       550        560        570        580        590        600 
NKETEDYLNS LLEGCLKDTE DSLSYEDNQD DDSDLLQDLS PEEASYSLQE NLPSDESCLS 

       610        620        630        640        650        660 
LDDLAKRIEI AEVVPTEGLV SILKKRNDTV GDHPAQMQHK PSKRRVRFQE IDDSLDQDEV 

       670        680        690        700        710        720 
GGGSCILLVL LCIATVFLSV GGTALYCTFG DMESPVCTDF ADNMDFYYTK LLQGVAELKH 


WIYLS 

« Hide

Isoform 2 [UniParc].

Checksum: 393E0FF7F5443B97
Show »

FASTA61667,541
Isoform 3 [UniParc].

Checksum: 0766B36B9C03DB68
Show »

FASTA26329,306

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS1628.1. [Q6PJW8-1]
CCDS44343.1. [Q6PJW8-2]
RefSeqNP_001132931.1. NM_001139459.1. [Q6PJW8-2]
NP_689822.2. NM_152609.2. [Q6PJW8-1]
UniGeneHs.368353.

3D structure databases

ProteinModelPortalQ6PJW8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127882. 13 interactions.
IntActQ6PJW8. 7 interactions.
MINTMINT-4722440.
STRING9606.ENSP00000355470.

PTM databases

PhosphoSiteQ6PJW8.

Polymorphism databases

DMDM317373449.

Proteomic databases

MaxQBQ6PJW8.
PaxDbQ6PJW8.
PRIDEQ6PJW8.

Protocols and materials databases

DNASU163882.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000366512; ENSP00000355469; ENSG00000162852. [Q6PJW8-2]
ENST00000366513; ENSP00000355470; ENSG00000162852. [Q6PJW8-1]
GeneID163882.
KEGGhsa:163882.
UCSCuc001ibo.4. human. [Q6PJW8-2]
uc001ibp.3. human. [Q6PJW8-1]

Organism-specific databases

CTD163882.
GeneCardsGC01P246730.
H-InvDBHIX0001762.
HGNCHGNC:26486. CNST.
HPAHPA007225.
MIM613439. gene.
neXtProtNX_Q6PJW8.
PharmGKBPA165751017.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG29134.
HOVERGENHBG098332.
InParanoidQ6PJW8.
KOK17581.
OMAKHWIYLS.
OrthoDBEOG708VZD.
PhylomeDBQ6PJW8.
TreeFamTF351172.

Gene expression databases

ArrayExpressQ6PJW8.
BgeeQ6PJW8.
CleanExHS_C1orf71.
GenevestigatorQ6PJW8.

Family and domain databases

InterProIPR028129. Consortin_C.
[Graphical view]
PfamPF15281. Consortin_C. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCNST. human.
GeneWikiC1orf71.
GenomeRNAi163882.
NextBio88417.
PROQ6PJW8.
SOURCESearch...

Entry information

Entry nameCNST_HUMAN
AccessionPrimary (citable) accession number: Q6PJW8
Secondary accession number(s): Q5VSY9 expand/collapse secondary AC list , Q5VTM7, Q8IYA9, Q8N3L5, Q8NB09, Q8TEI2, Q96MR5
Entry history
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 87 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM