CNST_HUMAN
ID CNST_HUMAN Reviewed; 725 AA.
AC Q6PJW8; Q5VSY9; Q5VTM7; Q8IYA9; Q8N3L5; Q8NB09; Q8TEI2; Q96MR5;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 3.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Consortin;
GN Name=CNST; Synonyms=C1orf71;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT SER-87.
RC TISSUE=Spleen, and Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT SER-87.
RC TISSUE=Skeletal muscle;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANT
RP SER-87.
RC TISSUE=Brain, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP FUNCTION, TOPOLOGY, AND SUBCELLULAR LOCATION.
RX PubMed=19864490; DOI=10.1093/hmg/ddp490;
RA del Castillo F.J., Cohen-Salmon M., Charollais A., Caille D., Lampe P.D.,
RA Chavrier P., Meda P., Petit C.;
RT "Consortin, a trans-Golgi network cargo receptor for the plasma membrane
RT targeting and recycling of connexins.";
RL Hum. Mol. Genet. 19:262-275(2010).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: Required for targeting of connexins to the plasma membrane.
CC {ECO:0000269|PubMed:19864490}.
CC -!- SUBUNIT: Interacts with connexins GJA1/CX43, GJB1/CX32, GJB2/CX26,
CC GJB3/CX31, GJB6/CX30 and GJC1/CX45. Also interacts with GGA1 and GGA2.
CC Does not interact with PANX1 (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q6PJW8; Q9NUX5: POT1; NbExp=2; IntAct=EBI-750390, EBI-752420;
CC Q6PJW8; P62136: PPP1CA; NbExp=4; IntAct=EBI-750390, EBI-357253;
CC Q6PJW8; Q9HAT0: ROPN1; NbExp=5; IntAct=EBI-750390, EBI-1378139;
CC Q6PJW8-3; P46379-2: BAG6; NbExp=3; IntAct=EBI-25836090, EBI-10988864;
CC Q6PJW8-3; P55212: CASP6; NbExp=3; IntAct=EBI-25836090, EBI-718729;
CC Q6PJW8-3; O75190-2: DNAJB6; NbExp=3; IntAct=EBI-25836090, EBI-12593112;
CC Q6PJW8-3; P28799: GRN; NbExp=3; IntAct=EBI-25836090, EBI-747754;
CC Q6PJW8-3; P30519: HMOX2; NbExp=3; IntAct=EBI-25836090, EBI-712096;
CC Q6PJW8-3; P04792: HSPB1; NbExp=3; IntAct=EBI-25836090, EBI-352682;
CC Q6PJW8-3; Q9UMF0: ICAM5; NbExp=3; IntAct=EBI-25836090, EBI-6398041;
CC Q6PJW8-3; O60333-2: KIF1B; NbExp=3; IntAct=EBI-25836090, EBI-10975473;
CC Q6PJW8-3; O14901: KLF11; NbExp=3; IntAct=EBI-25836090, EBI-948266;
CC Q6PJW8-3; P13473-2: LAMP2; NbExp=3; IntAct=EBI-25836090, EBI-21591415;
CC Q6PJW8-3; P62826: RAN; NbExp=3; IntAct=EBI-25836090, EBI-286642;
CC Q6PJW8-3; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-25836090, EBI-396669;
CC Q6PJW8-3; P02766: TTR; NbExp=3; IntAct=EBI-25836090, EBI-711909;
CC Q6PJW8-3; O76024: WFS1; NbExp=3; IntAct=EBI-25836090, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19864490};
CC Single-pass membrane protein {ECO:0000269|PubMed:19864490}. Golgi
CC apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:19864490};
CC Single-pass membrane protein {ECO:0000269|PubMed:19864490}. Cytoplasmic
CC vesicle, secretory vesicle {ECO:0000269|PubMed:19864490}. Note=Located
CC predominantly in the trans-Golgi network. Probably trafficks between
CC the trans-Golgi network and the cell membrane via the secretory
CC pathway.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6PJW8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6PJW8-2; Sequence=VSP_025819, VSP_025820;
CC Name=3;
CC IsoId=Q6PJW8-3; Sequence=VSP_025817, VSP_025818;
CC -!- SIMILARITY: Belongs to the CNST family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB84968.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC03735.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=CAD38922.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK056563; BAB71218.1; -; mRNA.
DR EMBL; AK074142; BAB84968.1; ALT_FRAME; mRNA.
DR EMBL; AK091739; BAC03735.1; ALT_FRAME; mRNA.
DR EMBL; AL834246; CAD38922.2; ALT_INIT; mRNA.
DR EMBL; AL591623; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL646019; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC010228; AAH10228.1; -; mRNA.
DR EMBL; BC036200; AAH36200.1; -; mRNA.
DR CCDS; CCDS1628.1; -. [Q6PJW8-1]
DR CCDS; CCDS44343.1; -. [Q6PJW8-2]
DR RefSeq; NP_001132931.1; NM_001139459.1. [Q6PJW8-2]
DR RefSeq; NP_689822.2; NM_152609.2. [Q6PJW8-1]
DR RefSeq; XP_005273138.2; XM_005273081.3. [Q6PJW8-1]
DR RefSeq; XP_011542412.1; XM_011544110.2. [Q6PJW8-1]
DR RefSeq; XP_011542413.1; XM_011544111.1. [Q6PJW8-1]
DR AlphaFoldDB; Q6PJW8; -.
DR BioGRID; 127882; 27.
DR ELM; Q6PJW8; -.
DR IntAct; Q6PJW8; 24.
DR STRING; 9606.ENSP00000355470; -.
DR iPTMnet; Q6PJW8; -.
DR PhosphoSitePlus; Q6PJW8; -.
DR SwissPalm; Q6PJW8; -.
DR BioMuta; CNST; -.
DR DMDM; 317373449; -.
DR EPD; Q6PJW8; -.
DR jPOST; Q6PJW8; -.
DR MassIVE; Q6PJW8; -.
DR MaxQB; Q6PJW8; -.
DR PaxDb; Q6PJW8; -.
DR PeptideAtlas; Q6PJW8; -.
DR PRIDE; Q6PJW8; -.
DR ProteomicsDB; 67225; -. [Q6PJW8-1]
DR ProteomicsDB; 67226; -. [Q6PJW8-2]
DR ProteomicsDB; 67227; -. [Q6PJW8-3]
DR Antibodypedia; 2026; 18 antibodies from 9 providers.
DR DNASU; 163882; -.
DR Ensembl; ENST00000366512.7; ENSP00000355469.3; ENSG00000162852.14. [Q6PJW8-2]
DR Ensembl; ENST00000366513.9; ENSP00000355470.4; ENSG00000162852.14. [Q6PJW8-1]
DR GeneID; 163882; -.
DR KEGG; hsa:163882; -.
DR MANE-Select; ENST00000366513.9; ENSP00000355470.4; NM_152609.3; NP_689822.2.
DR UCSC; uc001ibo.5; human. [Q6PJW8-1]
DR CTD; 163882; -.
DR DisGeNET; 163882; -.
DR GeneCards; CNST; -.
DR HGNC; HGNC:26486; CNST.
DR HPA; ENSG00000162852; Low tissue specificity.
DR MIM; 613439; gene.
DR neXtProt; NX_Q6PJW8; -.
DR OpenTargets; ENSG00000162852; -.
DR PharmGKB; PA165751017; -.
DR VEuPathDB; HostDB:ENSG00000162852; -.
DR eggNOG; ENOG502QSMS; Eukaryota.
DR GeneTree; ENSGT00390000005861; -.
DR HOGENOM; CLU_023107_0_0_1; -.
DR InParanoid; Q6PJW8; -.
DR OMA; PLMQEKI; -.
DR OrthoDB; 1451496at2759; -.
DR PhylomeDB; Q6PJW8; -.
DR TreeFam; TF351172; -.
DR PathwayCommons; Q6PJW8; -.
DR SignaLink; Q6PJW8; -.
DR BioGRID-ORCS; 163882; 13 hits in 1076 CRISPR screens.
DR ChiTaRS; CNST; human.
DR GeneWiki; C1orf71; -.
DR GenomeRNAi; 163882; -.
DR Pharos; Q6PJW8; Tdark.
DR PRO; PR:Q6PJW8; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q6PJW8; protein.
DR Bgee; ENSG00000162852; Expressed in middle temporal gyrus and 185 other tissues.
DR ExpressionAtlas; Q6PJW8; baseline and differential.
DR Genevisible; Q6PJW8; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0032991; C:protein-containing complex; IDA:LIFEdb.
DR GO; GO:0005802; C:trans-Golgi network; IDA:UniProtKB.
DR GO; GO:0030133; C:transport vesicle; IDA:UniProtKB.
DR GO; GO:0071253; F:connexin binding; ISS:UniProtKB.
DR GO; GO:0019902; F:phosphatase binding; IDA:UniProtKB.
DR GO; GO:0042998; P:positive regulation of Golgi to plasma membrane protein transport; IMP:UniProtKB.
DR InterPro; IPR042318; Consortin.
DR InterPro; IPR028129; Consortin_C.
DR PANTHER; PTHR28581; PTHR28581; 1.
DR Pfam; PF15281; Consortin_C; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cytoplasmic vesicle; Golgi apparatus;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..725
FT /note="Consortin"
FT /id="PRO_0000288906"
FT TOPO_DOM 1..664
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 665..685
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 686..725
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT REGION 1..72
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 103..124
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 296..353
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 375..397
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 485..510
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 55..72
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 311..353
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 235..263
FT /note="ETKWKTVQPHTVTALRNSEKGFNGEDFER -> GKYRPTWNVELAVIQQVTI
FT YKINIFDLVL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025817"
FT VAR_SEQ 264..725
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025818"
FT VAR_SEQ 614..616
FT /note="VPT -> NQR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025819"
FT VAR_SEQ 617..725
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025820"
FT VARIANT 28
FT /note="S -> N (in dbSNP:rs35286882)"
FT /id="VAR_032530"
FT VARIANT 87
FT /note="L -> S (in dbSNP:rs6702823)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_032531"
FT VARIANT 183
FT /note="Q -> R (in dbSNP:rs12091148)"
FT /id="VAR_056762"
FT VARIANT 399
FT /note="R -> C (in dbSNP:rs12075111)"
FT /id="VAR_032532"
FT CONFLICT 246
FT /note="V -> L (in Ref. 1; BAB84968)"
FT /evidence="ECO:0000305"
FT CONFLICT 331
FT /note="E -> Q (in Ref. 2; CAD38922)"
FT /evidence="ECO:0000305"
FT CONFLICT 393..394
FT /note="AC -> GR (in Ref. 2; CAD38922)"
FT /evidence="ECO:0000305"
FT CONFLICT 689
FT /note="F -> L (in Ref. 1; BAC03735)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 725 AA; 79597 MW; C32AF9E17D98C389 CRC64;
MDDSDTPTYY LQIEPQDGCH PGDSVERSVT CLPSASDENE NQLDGDGHEH LTSSDSAMGK
PQVSEQDSLN NNESCTLSCE VAAGENLQNT LCEASRDEQA FLGKDKKIPG KRSPRSKKGT
AKKIPPGLFS GDIAPLMQEK VLSAVTYAVD DEEAAEVNAN EQPEAPKLVL QSLFSLIRGE
VEQLDSRALP LCLHQIAESY FQEEDYEKAM KFIQLERLYH EQLLANLSAI QEQWETKWKT
VQPHTVTALR NSEKGFNGED FERLTKICAT HQDPLLSKHK IAAVEKSQER KCSTQLLVSE
DPKEGGATTK ESESKTCLGT ESSKESQHTV EPLGSSPCCH QMDVQTDSPS LSVTAGKDHM
EELLCSAEAT LALHTQSSET AGSPSGPDSS EDACEDDSRL QLAQTEACQD VARIEGIAED
PKVFLSSKSK TEPLISPGCD RIPPALISEG KYSQAQRKEL RLPLRDASEA LPTDQLENNE
LNELQQPDLT DSDGKSPQAQ ADSDGSENVL CGNNQISDLG ILLPEVCMAP EEKGDKDDQL
NKETEDYLNS LLEGCLKDTE DSLSYEDNQD DDSDLLQDLS PEEASYSLQE NLPSDESCLS
LDDLAKRIEI AEVVPTEGLV SILKKRNDTV GDHPAQMQHK PSKRRVRFQE IDDSLDQDEV
GGGSCILLVL LCIATVFLSV GGTALYCTFG DMESPVCTDF ADNMDFYYTK LLQGVAELKH
WIYLS
