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 24-JAN-2024, entry version 145. 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}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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. DR RefSeq; XP_011542412.1; XM_011544110.2. [Q6PJW8-1] DR RefSeq; XP_011542413.1; XM_011544111.1. [Q6PJW8-1] DR AlphaFoldDB; Q6PJW8; -. DR SMR; Q6PJW8; -. DR BioGRID; 127882; 29. DR ELM; Q6PJW8; -. DR IntAct; Q6PJW8; 25. 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; 9606-ENSP00000355470; -. DR PeptideAtlas; Q6PJW8; -. DR ProteomicsDB; 67225; -. [Q6PJW8-1] DR ProteomicsDB; 67226; -. [Q6PJW8-2] DR ProteomicsDB; 67227; -. [Q6PJW8-3] DR Pumba; Q6PJW8; -. DR Antibodypedia; 2026; 25 antibodies from 11 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 AGR; HGNC:26486; -. 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; AKFCTTH; -. DR OrthoDB; 4250979at2759; -. DR PhylomeDB; Q6PJW8; -. DR TreeFam; TF351172; -. DR PathwayCommons; Q6PJW8; -. DR SignaLink; Q6PJW8; -. DR BioGRID-ORCS; 163882; 14 hits in 1153 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 186 other cell types or tissues. DR ExpressionAtlas; Q6PJW8; baseline and differential. 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; CONSORTIN; 1. DR PANTHER; PTHR28581:SF1; CONSORTIN; 1. DR Pfam; PF15281; Consortin_C; 1. DR Genevisible; Q6PJW8; HS. 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 //