Q6PJW8 (CNST_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Consortin

Gene names

Name:	CNST
Synonyms:	C1orf71

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	725 AA.
Sequence status	Complete.
Protein existence	Evidence 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 apparatus › trans-Golgi network membrane; Single-pass membrane protein. Cytoplasmic vesicle › secretory 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.

Ontologies

Keywords
Cellular component	Cell membrane Cytoplasmic vesicle Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of phosphatase activity Inferred from direct assay PubMed 19389623. Source: UniProtKB positive regulation of Golgi to plasma membrane protein transport Inferred from mutant phenotype Ref.5. Source: UniProtKB
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from direct assay Ref.5. Source: UniProtKB protein complex Inferred from direct assay. Source: LIFEdb trans-Golgi network Inferred from direct assay Ref.5. Source: UniProtKB transport vesicle Inferred from direct assay Ref.5. Source: UniProtKB
Molecular_function	connexin binding Inferred from sequence or structural similarity. Source: UniProtKB phosphatase binding Inferred from direct assay PubMed 19389623. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PPP1CA	P62136	3	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 725	725	Consortin		PRO_0000288906
Regions
	Transmembrane	665 – 685	21	Helical; Potential
Amino acid modifications
	Glycosylation	226	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	235 – 263	29	ETKWK…EDFER → GKYRPTWNVELAVIQQVTIY KINIFDLVL in isoform 3.		VSP_025817
	Alternative sequence	264 – 725	462	Missing in isoform 3.		VSP_025818
	Alternative sequence	614 – 616	3	VPT → NQR in isoform 2.		VSP_025819
	Alternative sequence	617 – 725	109	Missing in isoform 2.		VSP_025820
	Natural variant	28	1	S → N. Corresponds to variant rs35286882 [ dbSNP | Ensembl ].		VAR_032530
	Natural variant	87	1	L → S. Ref.1 Ref.2 Ref.4 Corresponds to variant rs6702823 [ dbSNP | Ensembl ].		VAR_032531
	Natural variant	183	1	Q → R. Corresponds to variant rs12091148 [ dbSNP | Ensembl ].		VAR_056762
	Natural variant	399	1	R → C. Corresponds to variant rs12075111 [ dbSNP | Ensembl ].		VAR_032532
Experimental info
	Sequence conflict	246	1	V → L in BAB84968. Ref.1
	Sequence conflict	331	1	E → Q in CAD38922. Ref.2
	Sequence conflict	393 – 394	2	AC → GR in CAD38922. Ref.2
	Sequence conflict	689	1	F → L in BAC03735. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 11, 2011. Version 3. Checksum: C32AF9E17D98C389	FASTA	725	79,597
	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
	Isoform 2 [UniParc]. Checksum: 393E0FF7F5443B97	FASTA	616	67,541
	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 LDDLAKRIEI AEVNQR
	Isoform 3 [UniParc]. Checksum: 0766B36B9C03DB68	FASTA	263	29,306
	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 QEQWGKYRPT 250 260 WNVELAVIQQ VTIYKINIFD LVL

References

	« Hide 'large scale' referencesShow '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. , 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. , 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, 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.
IPI	IPI00465154. IPI00640991. IPI00847817.
RefSeq	NP_001132931.1. NM_001139459.1. NP_689822.2. NM_152609.2.
UniGene	Hs.368353.
3D structure databases
ProteinModelPortal	Q6PJW8.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q6PJW8. 7 interactions.
STRING	9606.ENSP00000355470.
PTM databases
PhosphoSite	Q6PJW8.
Polymorphism databases
DMDM	152125835.
Proteomic databases
PaxDb	Q6PJW8.
PRIDE	Q6PJW8.
Protocols and materials databases
DNASU	163882.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000366512; ENSP00000355469; ENSG00000162852. ENST00000366513; ENSP00000355470; ENSG00000162852.
GeneID	163882.
KEGG	hsa:163882.
UCSC	uc001ibo.4. human. uc001ibp.3. human.
Organism-specific databases
CTD	163882.
GeneCards	GC01P246730.
H-InvDB	HIX0001762.
HGNC	HGNC:26486. CNST.
HPA	HPA007225.
MIM	613439. gene.
neXtProt	NX_Q6PJW8.
PharmGKB	PA165751017.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG29134.
HOVERGEN	HBG098332.
InParanoid	Q6PJW8.
OMA	NELQQPD.
OrthoDB	EOG4B8JCH.
PhylomeDB	Q6PJW8.
Gene expression databases
ArrayExpress	Q6PJW8.
Bgee	Q6PJW8.
CleanEx	HS_C1orf71.
Genevestigator	Q6PJW8.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	CNST. human.
GenomeRNAi	163882.
NextBio	88417.
SOURCE	Search...

Entry information

Entry name

CNST_HUMAN

Accession

Primary (citable) accession number: Q6PJW8
Secondary accession number(s): Q5VSY9 , Q5VTM7, Q8IYA9, Q8N3L5, Q8NB09, Q8TEI2, Q96MR5

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	January 11, 2011
Last modified:	May 1, 2013
This is version 75 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.