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P29120

- NEC1_HUMAN

UniProt

P29120 - NEC1_HUMAN

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Protein

Neuroendocrine convertase 1

Gene
PCSK1, NEC1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin and insulin.

Catalytic activityi

Release of protein hormones, neuropeptides and renin from their precursors, generally by hydrolysis of -Lys-Arg-|- bonds.

Cofactori

Calcium.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei167 – 1671Charge relay system By similarity
Active sitei208 – 2081Charge relay system By similarity
Active sitei382 – 3821Charge relay system By similarity

GO - Molecular functioni

  1. serine-type endopeptidase activity Source: BHF-UCL

GO - Biological processi

  1. cell-cell signaling Source: ProtInc
  2. cellular protein metabolic process Source: Reactome
  3. metabolic process Source: ProtInc
  4. peptide biosynthetic process Source: BHF-UCL
  5. peptide hormone processing Source: Reactome
  6. proteolysis Source: ProtInc
  7. regulation of insulin secretion Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Serine protease

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiREACT_15452. Peptide hormone biosynthesis.
REACT_15550. Insulin processing.
REACT_19189. Synthesis, secretion, and deacylation of Ghrelin.
REACT_23824. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP).
REACT_24019. Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1).
SignaLinkiP29120.

Protein family/group databases

MEROPSiS08.072.

Names & Taxonomyi

Protein namesi
Recommended name:
Neuroendocrine convertase 1 (EC:3.4.21.93)
Short name:
NEC 1
Alternative name(s):
Prohormone convertase 1
Proprotein convertase 1
Short name:
PC1
Gene namesi
Name:PCSK1
Synonyms:NEC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:8743. PCSK1.

Subcellular locationi

Cytoplasmic vesiclesecretory vesicle
Note: Localized in the secretion granules.

GO - Cellular componenti

  1. extracellular space Source: BHF-UCL
  2. Golgi apparatus Source: RefGenome
  3. secretory granule lumen Source: Reactome
  4. transport vesicle Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle

Pathology & Biotechi

Involvement in diseasei

Proprotein convertase 1 deficiency (PC1 deficiency) [MIM:600955]: Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti213 – 2131Missing in PC1 deficiency. 1 Publication
VAR_022777
Natural varianti307 – 3071S → L in PC1 deficiency; in vitro the mutation markedly impairs the catalytic activity of the enzyme; however intracellular trafficking of this mutant enzyme appears normal; retains some autocatalytic activity even though it is completely inactive on other substrates. 1 Publication
VAR_055002
Natural varianti483 – 4831G → R in PC1 deficiency; prevents processing of pro-PCSK1 and leads to its retention in the endoplasmic reticulum. 1 Publication
VAR_022778

Keywords - Diseasei

Disease mutation, Obesity

Organism-specific databases

MIMi600955. phenotype.
612362. phenotype.
Orphaneti71528. Obesity due to prohormone convertase I deficiency.
PharmGKBiPA33089.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2727 Reviewed predictionAdd
BLAST
Propeptidei28 – 11083 Reviewed predictionPRO_0000027057Add
BLAST
Chaini111 – 753643Neuroendocrine convertase 1PRO_0000027058Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi173 – 1731N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi225 ↔ 374 By similarity
Disulfide bondi317 ↔ 347 By similarity
Glycosylationi401 – 4011N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi467 ↔ 494 By similarity
Glycosylationi632 – 6321O-linked (GalNAc...)1 Publication

Post-translational modificationi

O-glycosylated.1 Publication

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

PaxDbiP29120.
PRIDEiP29120.

PTM databases

PhosphoSiteiP29120.

Miscellaneous databases

PMAP-CutDBP29120.

Expressioni

Gene expression databases

ArrayExpressiP29120.
BgeeiP29120.
CleanExiHS_PCSK1.
GenevestigatoriP29120.

Organism-specific databases

HPAiHPA048564.

Interactioni

Protein-protein interaction databases

BioGridi111151. 4 interactions.
MINTiMINT-6630348.
STRINGi9606.ENSP00000308024.

Structurei

3D structure databases

ProteinModelPortaliP29120.
SMRiP29120. Positions 31-103, 123-597, 711-753.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni122 – 410289CatalyticAdd
BLAST
Regioni739 – 75113Amphipathic Reviewed predictionAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiCOG4935.
HOGENOMiHOG000192536.
HOVERGENiHBG008705.
InParanoidiP29120.
KOiK01359.
OMAiNNPGWKK.
OrthoDBiEOG7BW0JD.
PhylomeDBiP29120.
TreeFamiTF314277.

Family and domain databases

Gene3Di2.60.120.260. 1 hit.
3.40.50.200. 1 hit.
InterProiIPR008979. Galactose-bd-like.
IPR000209. Peptidase_S8/S53_dom.
IPR023827. Peptidase_S8_Asp-AS.
IPR022398. Peptidase_S8_His-AS.
IPR023828. Peptidase_S8_Ser-AS.
IPR015500. Peptidase_S8_subtilisin-rel.
IPR022005. Proho_convert.
IPR009020. Prot_inh_propept.
IPR002884. PrprotnconvertsP.
[Graphical view]
PANTHERiPTHR10795. PTHR10795. 1 hit.
PfamiPF01483. P_proprotein. 1 hit.
PF00082. Peptidase_S8. 1 hit.
PF12177. Proho_convert. 1 hit.
[Graphical view]
PRINTSiPR00723. SUBTILISIN.
SUPFAMiSSF49785. SSF49785. 1 hit.
SSF52743. SSF52743. 1 hit.
SSF54897. SSF54897. 1 hit.
PROSITEiPS00136. SUBTILASE_ASP. 1 hit.
PS00137. SUBTILASE_HIS. 1 hit.
PS00138. SUBTILASE_SER. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P29120-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MERRAWSLQC TAFVLFCAWC ALNSAKAKRQ FVNEWAAEIP GGPEAASAIA    50
EELGYDLLGQ IGSLENHYLF KHKNHPRRSR RSAFHITKRL SDDDRVIWAE 100
QQYEKERSKR SALRDSALNL FNDPMWNQQW YLQDTRMTAA LPKLDLHVIP 150
VWQKGITGKG VVITVLDDGL EWNHTDIYAN YDPEASYDFN DNDHDPFPRY 200
DPTNENKHGT RCAGEIAMQA NNHKCGVGVA YNSKVGGIRM LDGIVTDAIE 250
ASSIGFNPGH VDIYSASWGP NDDGKTVEGP GRLAQKAFEY GVKQGRQGKG 300
SIFVWASGNG GRQGDNCDCD GYTDSIYTIS ISSASQQGLS PWYAEKCSST 350
LATSYSSGDY TDQRITSADL HNDCTETHTG TSASAPLAAG IFALALEANP 400
NLTWRDMQHL VVWTSEYDPL ANNPGWKKNG AGLMVNSRFG FGLLNAKALV 450
DLADPRTWRS VPEKKECVVK DNDFEPRALK ANGEVIIEIP TRACEGQENA 500
IKSLEHVQFE ATIEYSRRGD LHVTLTSAAG TSTVLLAERE RDTSPNGFKN 550
WDFMSVHTWG ENPIGTWTLR ITDMSGRIQN EGRIVNWKLI LHGTSSQPEH 600
MKQPRVYTSY NTVQNDRRGV EKMVDPGEEQ PTQENPKENT LVSKSPSSSS 650
VGGRRDELEE GAPSQAMLRL LQSAFSKNSP PKQSPKKSPS AKLNIPYENF 700
YEALEKLNKP SQLKDSEDSL YNDYVDVFYN TKPYKHRDDR LLQALVDILN 750
EEN 753
Length:753
Mass (Da):84,152
Last modified:October 17, 2006 - v2
Checksum:iD3CBD1B92093A208
GO
Isoform 2 (identifier: P29120-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: MERRAWSLQCTAFVLFCAWCALNSAKAKRQFVNEWAAEIPGGPEAASAIAEELGYDLLG → MGKGSISFLFFS

Note: No experimental confirmation available.

Show »
Length:706
Mass (Da):79,010
Checksum:iF082971DADE9EAAC
GO

Polymorphismi

Genetic variations in PCSK1 define the body mass index quantitative trait locus 12 (BMIQ12) [MIMi:612362]. Variance in body mass index is a susceptibility factor for obesity.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti80 – 801R → Q.1 Publication
Corresponds to variant rs1799904 [ dbSNP | Ensembl ].
VAR_013906
Natural varianti213 – 2131Missing in PC1 deficiency. 1 Publication
VAR_022777
Natural varianti221 – 2211N → D Associated with susceptibility to obesity; induces a 10.4% reduction of activity (P = 0.03) when compared to the wild-type enzyme. 2 Publications
Corresponds to variant rs6232 [ dbSNP | Ensembl ].
VAR_013907
Natural varianti307 – 3071S → L in PC1 deficiency; in vitro the mutation markedly impairs the catalytic activity of the enzyme; however intracellular trafficking of this mutant enzyme appears normal; retains some autocatalytic activity even though it is completely inactive on other substrates. 1 Publication
VAR_055002
Natural varianti483 – 4831G → R in PC1 deficiency; prevents processing of pro-PCSK1 and leads to its retention in the endoplasmic reticulum. 1 Publication
VAR_022778
Natural varianti665 – 6651Q → E.3 Publications
Corresponds to variant rs6234 [ dbSNP | Ensembl ].
VAR_013908
Natural varianti690 – 6901S → T.2 Publications
Corresponds to variant rs6235 [ dbSNP | Ensembl ].
VAR_013909

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5959MERRA…YDLLG → MGKGSISFLFFS in isoform 2. VSP_046100Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti357 – 3571S → G in CAA46031. 1 Publication
Sequence conflicti370 – 3712LH → VD in BAA11133. 1 Publication
Sequence conflicti617 – 6171R → G in BAH14073. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X64810 mRNA. Translation: CAA46031.1.
M90753 mRNA. Translation: AAA59918.1.
D73407 Genomic DNA. Translation: BAA11133.1.
AK303888 mRNA. Translation: BAH14073.1.
AC008951 Genomic DNA. No translation available.
AC108107 Genomic DNA. No translation available.
U24128 Genomic DNA. Translation: AAA73788.1.
CCDSiCCDS4081.1. [P29120-1]
CCDS54881.1. [P29120-2]
PIRiS21106. KXHUC1.
RefSeqiNP_000430.3. NM_000439.4. [P29120-1]
NP_001171346.1. NM_001177875.1. [P29120-2]
UniGeneiHs.78977.

Genome annotation databases

EnsembliENST00000311106; ENSP00000308024; ENSG00000175426. [P29120-1]
ENST00000508626; ENSP00000421600; ENSG00000175426. [P29120-2]
GeneIDi5122.
KEGGihsa:5122.
UCSCiuc003kls.2. human. [P29120-1]

Polymorphism databases

DMDMi116242674.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X64810 mRNA. Translation: CAA46031.1 .
M90753 mRNA. Translation: AAA59918.1 .
D73407 Genomic DNA. Translation: BAA11133.1 .
AK303888 mRNA. Translation: BAH14073.1 .
AC008951 Genomic DNA. No translation available.
AC108107 Genomic DNA. No translation available.
U24128 Genomic DNA. Translation: AAA73788.1 .
CCDSi CCDS4081.1. [P29120-1 ]
CCDS54881.1. [P29120-2 ]
PIRi S21106. KXHUC1.
RefSeqi NP_000430.3. NM_000439.4. [P29120-1 ]
NP_001171346.1. NM_001177875.1. [P29120-2 ]
UniGenei Hs.78977.

3D structure databases

ProteinModelPortali P29120.
SMRi P29120. Positions 31-103, 123-597, 711-753.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111151. 4 interactions.
MINTi MINT-6630348.
STRINGi 9606.ENSP00000308024.

Chemistry

BindingDBi P29120.
ChEMBLi CHEMBL3182.
DrugBanki DB00047. Insulin Glargine recombinant.
DB00046. Insulin Lyspro recombinant.
DB00030. Insulin recombinant.
DB00071. Insulin, porcine.

Protein family/group databases

MEROPSi S08.072.

PTM databases

PhosphoSitei P29120.

Polymorphism databases

DMDMi 116242674.

Proteomic databases

PaxDbi P29120.
PRIDEi P29120.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000311106 ; ENSP00000308024 ; ENSG00000175426 . [P29120-1 ]
ENST00000508626 ; ENSP00000421600 ; ENSG00000175426 . [P29120-2 ]
GeneIDi 5122.
KEGGi hsa:5122.
UCSCi uc003kls.2. human. [P29120-1 ]

Organism-specific databases

CTDi 5122.
GeneCardsi GC05M095751.
HGNCi HGNC:8743. PCSK1.
HPAi HPA048564.
MIMi 162150. gene.
600955. phenotype.
612362. phenotype.
neXtProti NX_P29120.
Orphaneti 71528. Obesity due to prohormone convertase I deficiency.
PharmGKBi PA33089.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG4935.
HOGENOMi HOG000192536.
HOVERGENi HBG008705.
InParanoidi P29120.
KOi K01359.
OMAi NNPGWKK.
OrthoDBi EOG7BW0JD.
PhylomeDBi P29120.
TreeFami TF314277.

Enzyme and pathway databases

Reactomei REACT_15452. Peptide hormone biosynthesis.
REACT_15550. Insulin processing.
REACT_19189. Synthesis, secretion, and deacylation of Ghrelin.
REACT_23824. Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP).
REACT_24019. Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1).
SignaLinki P29120.

Miscellaneous databases

ChiTaRSi PCSK1. human.
GeneWikii Proprotein_convertase_1.
GenomeRNAii 5122.
NextBioi 19750.
PMAP-CutDB P29120.
PROi P29120.
SOURCEi Search...

Gene expression databases

ArrayExpressi P29120.
Bgeei P29120.
CleanExi HS_PCSK1.
Genevestigatori P29120.

Family and domain databases

Gene3Di 2.60.120.260. 1 hit.
3.40.50.200. 1 hit.
InterProi IPR008979. Galactose-bd-like.
IPR000209. Peptidase_S8/S53_dom.
IPR023827. Peptidase_S8_Asp-AS.
IPR022398. Peptidase_S8_His-AS.
IPR023828. Peptidase_S8_Ser-AS.
IPR015500. Peptidase_S8_subtilisin-rel.
IPR022005. Proho_convert.
IPR009020. Prot_inh_propept.
IPR002884. PrprotnconvertsP.
[Graphical view ]
PANTHERi PTHR10795. PTHR10795. 1 hit.
Pfami PF01483. P_proprotein. 1 hit.
PF00082. Peptidase_S8. 1 hit.
PF12177. Proho_convert. 1 hit.
[Graphical view ]
PRINTSi PR00723. SUBTILISIN.
SUPFAMi SSF49785. SSF49785. 1 hit.
SSF52743. SSF52743. 1 hit.
SSF54897. SSF54897. 1 hit.
PROSITEi PS00136. SUBTILASE_ASP. 1 hit.
PS00137. SUBTILASE_HIS. 1 hit.
PS00138. SUBTILASE_SER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Expression in human lung tumor cells of the proprotein processing enzyme PC1/PC3. Cloning and primary sequence of a 5 kb cDNA."
    Creemers J.W.M., Roebroek A.J.M., van de Ven W.J.M.
    FEBS Lett. 300:82-88(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "The cDNA sequence of the human pro-hormone and pro-protein convertase PC1."
    Seidah N.G., Hamelin J., Gaspar A.M., Day R., Chretien M.
    DNA Cell Biol. 11:283-289(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM."
    Ohagi S., Sakaguchi H., Sanke T., Tatsuta H., Hanabusa T., Nanjo K.
    Diabetes 45:897-901(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLN-80 AND GLU-665.
  4. "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 2).
    Tissue: Trachea.
  5. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "Neuroendocrine-specific expression of the human prohormone convertase 1 gene. Hormonal regulation of transcription through distinct cAMP response elements."
    Jansen E.
    J. Biol. Chem. 270:15391-15397(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-60.
  7. "LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins."
    Halim A., Ruetschi U., Larson G., Nilsson J.
    J. Proteome Res. 12:573-584(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT THR-632, IDENTIFICATION BY MASS SPECTROMETRY.
  8. "Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene."
    Jackson R.S., Creemers J.W., Ohagi S., Raffin-Sanson M.-L., Sanders L., Montague C.T., Hutton J.C., O'Rahilly S.
    Nat. Genet. 16:303-306(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PC1 DEFICIENCY ARG-483.
  9. Cited for: VARIANTS ASP-221; GLU-665 AND THR-690.
  10. Cited for: VARIANT PC1 DEFICIENCY ALA-213 DEL.
  11. "Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3."
    Farooqi I.S., Volders K., Stanhope R., Heuschkel R., White A., Lank E., Keogh J., O'Rahilly S., Creemers J.W.M.
    J. Clin. Endocrinol. Metab. 92:3369-3373(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PC1 DEFICIENCY LEU-307, CHARACTERIZATION OF VARIANT PC1 DEFICIENCY LEU-307, VARIANTS GLU-665 AND THR-690.
  12. Cited for: VARIANT ASP-221, CHARACTERIZATION OF VARIANT ASP-221, ASSOCIATION WITH SUSCEPTIBILITY TO OBESITY.

Entry informationi

Entry nameiNEC1_HUMAN
AccessioniPrimary (citable) accession number: P29120
Secondary accession number(s): B7Z8T7
, E9PHA1, P78478, Q92532
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: October 17, 2006
Last modified: September 3, 2014
This is version 147 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 5
    Human chromosome 5: 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. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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