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P25092

- GUC2C_HUMAN

UniProt

P25092 - GUC2C_HUMAN

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Protein
Heat-stable enterotoxin receptor
Gene
GUCY2C, GUC2C, STAR
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Receptor for the E.coli heat-stable enterotoxin (E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GC-C). Also activated by the endogenous peptides guanylin and uroguanylin.

Catalytic activityi

GTP = 3',5'-cyclic GMP + diphosphate.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei357 – 3571Not glycosylated

GO - Molecular functioni

  1. ATP binding Source: InterPro
  2. GTP binding Source: UniProtKB-KW
  3. guanylate cyclase activity Source: ProtInc
  4. protein binding Source: UniProtKB
  5. protein kinase activity Source: InterPro
  6. toxic substance binding Source: Ensembl

GO - Biological processi

  1. intracellular signal transduction Source: InterPro
  2. receptor guanylyl cyclase signaling pathway Source: ProtInc
  3. regulation of cell proliferation Source: Ensembl
  4. response to toxic substance Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Lyase, Receptor

Keywords - Biological processi

cGMP biosynthesis

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Heat-stable enterotoxin receptor (EC:4.6.1.2)
Short name:
STA receptor
Short name:
hSTAR
Alternative name(s):
Guanylyl cyclase C
Short name:
GC-C
Intestinal guanylate cyclase
Gene namesi
Name:GUCY2C
Synonyms:GUC2C, STAR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:4688. GUCY2C.

Subcellular locationi

Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein
Note: The 145 kDa plasma membrane form of GC-C contains sialic acid and galactose residues, while a differencially glycosylated 130 Kda form is a high mannose form that is resident in the endoplasmic reticulum and may serve as the precursor for the cell surface form.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini24 – 430407Extracellular Reviewed prediction
Add
BLAST
Transmembranei431 – 45424Helical; Reviewed prediction
Add
BLAST
Topological domaini455 – 1073619Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Diarrhea 6 (DIAR6) [MIM:614616]: A relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti840 – 8401S → I in DIAR6; activating mutation; exposure of the mutant receptor to its ligands results in markedly increased production of cyclic guanosine monophosphate. 1 Publication
VAR_067724
Meconium ileus (MECIL) [MIM:614665]: A condition characterized by a intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium. Meconium ileus is a known clinical manifestation of cystic fibrosis.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti387 – 3871D → G in MECIL; activation of guanylate cyclase activity is 60% lower than in wild-type. 1 Publication
VAR_068174

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614616. phenotype.
614665. phenotype.
Orphaneti314373. Chronic diarrhea due to guanylate cyclase 2C overactivity.
314376. Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency.
PharmGKBiPA29069.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323 Reviewed prediction
Add
BLAST
Chaini24 – 10731050Heat-stable enterotoxin receptor
PRO_0000012376Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi32 – 321N-linked (GlcNAc...)1 Publication
Glycosylationi75 – 751N-linked (GlcNAc...)1 Publication
Glycosylationi79 – 791N-linked (GlcNAc...)1 Publication
Glycosylationi195 – 1951N-linked (GlcNAc...)1 Publication
Glycosylationi284 – 2841N-linked (GlcNAc...)1 Publication
Glycosylationi307 – 3071N-linked (GlcNAc...)1 Publication
Glycosylationi345 – 3451N-linked (GlcNAc...)1 Publication
Glycosylationi402 – 4021N-linked (GlcNAc...)1 Publication

Post-translational modificationi

Glycosylation at Asn-75 and/or Asn-79 is required for interaction with VIP36 while glycosylation at Asn-345 and Asn-402 modulates ligand-mediated GC-C activation.

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiP25092.
PRIDEiP25092.

PTM databases

PhosphoSiteiP25092.

Expressioni

Gene expression databases

BgeeiP25092.
CleanExiHS_GUCY2C.
HS_STAR.
GenevestigatoriP25092.

Organism-specific databases

HPAiHPA037655.

Interactioni

Subunit structurei

Homotrimer. Interacts via its C-terminal region with PDZK2. Interacts with the lectin chaperone VIP36.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PDZD3Q86UT5-24EBI-2816795,EBI-8299496

Protein-protein interaction databases

BioGridi109239. 1 interaction.
IntActiP25092. 3 interactions.
MINTiMINT-261763.
STRINGi9606.ENSP00000261170.

Structurei

3D structure databases

ProteinModelPortaliP25092.
SMRiP25092. Positions 491-772, 815-1001.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini489 – 749261Protein kinase
Add
BLAST
Domaini824 – 954131Guanylate cyclase
Add
BLAST

Domaini

The protein kinase domain is predicted to be catalytically inactive.

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0515.
HOGENOMiHOG000112833.
HOVERGENiHBG106967.
InParanoidiP25092.
KOiK12320.
OMAiAPDYMKN.
OrthoDBiEOG72VH58.
PhylomeDBiP25092.

Family and domain databases

Gene3Di3.30.70.1230. 1 hit.
InterProiIPR001054. A/G_cyclase.
IPR018297. A/G_cyclase_CS.
IPR001828. ANF_lig-bd_rcpt.
IPR011009. Kinase-like_dom.
IPR028082. Peripla_BP_I.
IPR000719. Prot_kinase_dom.
IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
[Graphical view]
PfamiPF01094. ANF_receptor. 1 hit.
PF00211. Guanylate_cyc. 1 hit.
PF07714. Pkinase_Tyr. 1 hit.
[Graphical view]
SMARTiSM00044. CYCc. 1 hit.
[Graphical view]
SUPFAMiSSF53822. SSF53822. 1 hit.
SSF55073. SSF55073. 1 hit.
SSF56112. SSF56112. 1 hit.
PROSITEiPS00452. GUANYLATE_CYCLASE_1. 1 hit.
PS50125. GUANYLATE_CYCLASE_2. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P25092-1 [UniParc]FASTAAdd to Basket

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MKTLLLDLAL WSLLFQPGWL SFSSQVSQNC HNGSYEISVL MMGNSAFAEP     50
LKNLEDAVNE GLEIVRGRLQ NAGLNVTVNA TFMYSDGLIH NSGDCRSSTC 100
EGLDLLRKIS NAQRMGCVLI GPSCTYSTFQ MYLDTELSYP MISAGSFGLS 150
CDYKETLTRL MSPARKLMYF LVNFWKTNDL PFKTYSWSTS YVYKNGTETE 200
DCFWYLNALE ASVSYFSHEL GFKVVLRQDK EFQDILMDHN RKSNVIIMCG 250
GPEFLYKLKG DRAVAEDIVI ILVDLFNDQY FEDNVTAPDY MKNVLVLTLS 300
PGNSLLNSSF SRNLSPTKRD FALAYLNGIL LFGHMLKIFL ENGENITTPK 350
FAHAFRNLTF EGYDGPVTLD DWGDVDSTMV LLYTSVDTKK YKVLLTYDTH 400
VNKTYPVDMS PTFTWKNSKL PNDITGRGPQ ILMIAVFTLT GAVVLLLLVA 450
LLMLRKYRKD YELRQKKWSH IPPENIFPLE TNETNHVSLK IDDDKRRDTI 500
QRLRQCKYDK KRVILKDLKH NDGNFTEKQK IELNKLLQID YYNLTKFYGT 550
VKLDTMIFGV IEYCERGSLR EVLNDTISYP DGTFMDWEFK ISVLYDIAKG 600
MSYLHSSKTE VHGRLKSTNC VVDSRMVVKI TDFGCNSILP PKKDLWTAPE 650
HLRQANISQK GDVYSYGIIA QEIILRKETF YTLSCRDRNE KIFRVENSNG 700
MKPFRPDLFL ETAEEKELEV YLLVKNCWEE DPEKRPDFKK IETTLAKIFG 750
LFHDQKNESY MDTLIRRLQL YSRNLEHLVE ERTQLYKAER DRADRLNFML 800
LPRLVVKSLK EKGFVEPELY EEVTIYFSDI VGFTTICKYS TPMEVVDMLN 850
DIYKSFDHIV DHHDVYKVET IGDAYMVASG LPKRNGNRHA IDIAKMALEI 900
LSFMGTFELE HLPGLPIWIR IGVHSGPCAA GVVGIKMPRY CLFGDTVNTA 950
SRMESTGLPL RIHVSGSTIA ILKRTECQFL YEVRGETYLK GRGNETTYWL 1000
TGMKDQKFNL PTPPTVENQQ RLQAEFSDMI ANSLQKRQAA GIRSQKPRRV 1050
ASYKKGTLEY LQLNTTDKES TYF 1073
Length:1,073
Mass (Da):123,403
Last modified:November 2, 2010 - v2
Checksum:i486A4DE6F9097E22
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301C → R.1 Publication
Corresponds to variant rs56142849 [ dbSNP | Ensembl ].
VAR_042221
Natural varianti61 – 611G → R in a metastatic melanoma sample; somatic mutation. 1 Publication
VAR_042222
Natural varianti114 – 1141R → Q.1 Publication
Corresponds to variant rs56275235 [ dbSNP | Ensembl ].
VAR_042223
Natural varianti281 – 2811F → L.5 Publications
Corresponds to variant rs1420635 [ dbSNP | Ensembl ].
VAR_049253
Natural varianti387 – 3871D → G in MECIL; activation of guanylate cyclase activity is 60% lower than in wild-type. 1 Publication
VAR_068174
Natural varianti464 – 4641R → L.1 Publication
Corresponds to variant rs55684775 [ dbSNP | Ensembl ].
VAR_042224
Natural varianti610 – 6101E → K.1 Publication
Corresponds to variant rs55897626 [ dbSNP | Ensembl ].
VAR_042225
Natural varianti840 – 8401S → I in DIAR6; activating mutation; exposure of the mutant receptor to its ligands results in markedly increased production of cyclic guanosine monophosphate. 1 Publication
VAR_067724
Natural varianti859 – 8591I → V.1 Publication
Corresponds to variant rs34890806 [ dbSNP | Ensembl ].
VAR_042226
Natural varianti1045 – 10451Q → R.1 Publication
Corresponds to variant rs35617837 [ dbSNP | Ensembl ].
VAR_042227
Natural varianti1072 – 10721Y → C.1 Publication
Corresponds to variant rs35179392 [ dbSNP | Ensembl ].
VAR_042228

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti322 – 3221A → R in AAB19934. 1 Publication
Sequence conflicti331 – 3311L → V in AAB19934. 1 Publication
Sequence conflicti509 – 5091D → V in AAB19934. 1 Publication
Sequence conflicti543 – 5431N → T in AAB19934. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S57551 mRNA. Translation: AAB19934.2.
M73489 mRNA. Translation: AAA36655.1.
AC007545 Genomic DNA. No translation available.
AC010168 Genomic DNA. No translation available.
CH471094 Genomic DNA. Translation: EAW96324.1.
BC136544 mRNA. Translation: AAI36545.1.
BC136545 mRNA. Translation: AAI36546.1.
U20230 Genomic DNA. Translation: AAC50381.1.
CCDSiCCDS8664.1.
PIRiA40940. OYHUHX.
RefSeqiNP_004954.2. NM_004963.3.
UniGeneiHs.524278.

Genome annotation databases

EnsembliENST00000261170; ENSP00000261170; ENSG00000070019.
GeneIDi2984.
KEGGihsa:2984.
UCSCiuc001rcd.3. human.

Polymorphism databases

DMDMi311033390.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S57551 mRNA. Translation: AAB19934.2 .
M73489 mRNA. Translation: AAA36655.1 .
AC007545 Genomic DNA. No translation available.
AC010168 Genomic DNA. No translation available.
CH471094 Genomic DNA. Translation: EAW96324.1 .
BC136544 mRNA. Translation: AAI36545.1 .
BC136545 mRNA. Translation: AAI36546.1 .
U20230 Genomic DNA. Translation: AAC50381.1 .
CCDSi CCDS8664.1.
PIRi A40940. OYHUHX.
RefSeqi NP_004954.2. NM_004963.3.
UniGenei Hs.524278.

3D structure databases

ProteinModelPortali P25092.
SMRi P25092. Positions 491-772, 815-1001.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109239. 1 interaction.
IntActi P25092. 3 interactions.
MINTi MINT-261763.
STRINGi 9606.ENSP00000261170.

Chemistry

ChEMBLi CHEMBL1795197.
GuidetoPHARMACOLOGYi 1750.

PTM databases

PhosphoSitei P25092.

Polymorphism databases

DMDMi 311033390.

Proteomic databases

PaxDbi P25092.
PRIDEi P25092.

Protocols and materials databases

DNASUi 2984.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261170 ; ENSP00000261170 ; ENSG00000070019 .
GeneIDi 2984.
KEGGi hsa:2984.
UCSCi uc001rcd.3. human.

Organism-specific databases

CTDi 2984.
GeneCardsi GC12M014765.
H-InvDB HIX0036867.
HGNCi HGNC:4688. GUCY2C.
HPAi HPA037655.
MIMi 601330. gene.
614616. phenotype.
614665. phenotype.
neXtProti NX_P25092.
Orphaneti 314373. Chronic diarrhea due to guanylate cyclase 2C overactivity.
314376. Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency.
PharmGKBi PA29069.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
HOGENOMi HOG000112833.
HOVERGENi HBG106967.
InParanoidi P25092.
KOi K12320.
OMAi APDYMKN.
OrthoDBi EOG72VH58.
PhylomeDBi P25092.

Miscellaneous databases

GeneWikii Guanylate_cyclase_2C.
GenomeRNAii 2984.
NextBioi 11836.
PROi P25092.
SOURCEi Search...

Gene expression databases

Bgeei P25092.
CleanExi HS_GUCY2C.
HS_STAR.
Genevestigatori P25092.

Family and domain databases

Gene3Di 3.30.70.1230. 1 hit.
InterProi IPR001054. A/G_cyclase.
IPR018297. A/G_cyclase_CS.
IPR001828. ANF_lig-bd_rcpt.
IPR011009. Kinase-like_dom.
IPR028082. Peripla_BP_I.
IPR000719. Prot_kinase_dom.
IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
[Graphical view ]
Pfami PF01094. ANF_receptor. 1 hit.
PF00211. Guanylate_cyc. 1 hit.
PF07714. Pkinase_Tyr. 1 hit.
[Graphical view ]
SMARTi SM00044. CYCc. 1 hit.
[Graphical view ]
SUPFAMi SSF53822. SSF53822. 1 hit.
SSF55073. SSF55073. 1 hit.
SSF56112. SSF56112. 1 hit.
PROSITEi PS00452. GUANYLATE_CYCLASE_1. 1 hit.
PS50125. GUANYLATE_CYCLASE_2. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and expression of a guanylate cyclase-coupled heat stable enterotoxin receptor cDNA from a human colonic cell line."
    Singh S., Singh G., Heim J.-M., Gerzer R.
    Biochem. Biophys. Res. Commun. 179:1455-1463(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LEU-281.
  2. "Primary structure and functional expression of the human receptor for Escherichia coli heat-stable enterotoxin."
    de Sauvage F.J., Camerato T.R., Goeddel D.V.
    J. Biol. Chem. 266:17912-17918(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT LEU-281.
  3. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LEU-281.
  5. "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], VARIANT LEU-281.
  6. "Cell line-specific transcriptional activation of the promoter of the human guanylyl cyclase C/heat-stable enterotoxin receptor gene."
    Mann E.A., Jump M.L., Giannella R.A.
    Biochim. Biophys. Acta 1305:7-10(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-72.
    Tissue: Placenta.
  7. "Comparison of receptors for Escherichia coli heat-stable enterotoxin: novel receptor present in IEC-6 cells."
    Mann E.A., Cohen M.B., Giannella R.A.
    Am. J. Physiol. 264:G172-G178(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 24-1073, VARIANT LEU-281.
    Tissue: Colon carcinoma.
  8. "Biochemical characterization of the intracellular domain of the human guanylyl cyclase C receptor provides evidence for a catalytically active homotrimer."
    Vijayachandra K., Guruprasad M., Bhandari R., Manjunath U.H., Somesh B.P., Srinivasan N., Suguna K., Visweswariah S.S.
    Biochemistry 39:16075-16083(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT.
  9. "A novel PDZ protein regulates the activity of guanylyl cyclase C, the heat-stable enterotoxin receptor."
    Scott R.O., Thelin W.R., Milgram S.L.
    J. Biol. Chem. 277:22934-22941(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PDZK2.
  10. "Site-specific N-linked glycosylation of receptor guanylyl cyclase C regulates ligand binding, ligand-mediated activation and interaction with vesicular integral membrane protein 36, VIP36."
    Arshad N., Ballal S., Visweswariah S.S.
    J. Biol. Chem. 288:3907-3917(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-32; ASN-75; ASN-79; ASN-195; ASN-284; ASN-307; ASN-345 AND ASN-402, ABSENCE OF GLYCOSYLATION AT ASN-357, INTERACTION WITH VIP36, SUBCELLULAR LOCATION.
  11. "Meconium ileus caused by mutations in GUCY2C, encoding the CFTR-activating guanylate cyclase 2C."
    Romi H., Cohen I., Landau D., Alkrinawi S., Yerushalmi B., Hershkovitz R., Newman-Heiman N., Cutting G.R., Ofir R., Sivan S., Birk O.S.
    Am. J. Hum. Genet. 90:893-899(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MECIL GLY-387, CHARACTERIZATION OF VARIANT MECIL GLY-387.
  12. Cited for: VARIANT DIAR6 ILE-840, CHARACTERIZATION OF VARIANT DIAR6 ILE-840.
  13. "Patterns of somatic mutation in human cancer genomes."
    Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
    , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-30; ARG-61; GLN-114; LEU-464; LYS-610; VAL-859; ARG-1045 AND CYS-1072.

Entry informationi

Entry nameiGUC2C_HUMAN
AccessioniPrimary (citable) accession number: P25092
Secondary accession number(s): B2RMY6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 1992
Last sequence update: November 2, 2010
Last modified: July 9, 2014
This is version 152 of the entry and version 2 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 12
    Human chromosome 12: 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. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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