Hmdb loader

Showing Protein Neuroendocrine convertase 1 (HMDBP07838)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 1 metabolite
Identification
HMDB Protein ID HMDBP07838
Secondary Accession Numbers
  • 13547
Name Neuroendocrine convertase 1
Synonyms
  1. NEC 1
  2. PC1
  3. Prohormone convertase 1
  4. Proprotein convertase 1
Gene Name PCSK1
Protein Type Unknown
Biological Properties
General Function Involved in serine-type endopeptidase activity
Specific Function 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
Pathways Not Available
Reactions Not Available
GO Classification
Function
endopeptidase activity
serine-type endopeptidase activity
catalytic activity
hydrolase activity
peptidase activity
peptidase activity, acting on l-amino acid peptides
Process
metabolic process
macromolecule metabolic process
protein metabolic process
proteolysis
Cellular Location
  1. Cytoplasmic vesicle
  2. secretory vesicle
Gene Properties
Chromosome Location Chromosome:5
Locus 5q15-q21
SNPs PCSK1
Gene Sequence 
>2262 bp
ATGGAGCGAAGAGCCTGGAGTCTGCAGTGCACTGCTTTCGTCCTCTTTTGCGCTTGGTGT
GCACTGAACAGTGCAAAAGCGAAAAGGCAATTTGTCAATGAATGGGCAGCGGAGATCCCC
GGGGGCCCGGAAGCAGCCTCGGCCATCGCCGAGGAGCTGGGCTATGACCTTTTGGGTCAG
ATTGGTTCACTTGAAAATCACTACTTATTCAAACATAAAAACCACCCCAGAAGGTCTCGA
AGGAGTGCCTTTCATATCACTAAGAGATTATCTGATGATGATCGTGTGATATGGGCTGAA
CAACAGTATGAAAAAGAAAGAAGTAAACGTTCAGCTCTAAGGGACTCAGCACTAAATCTC
TTCAATGATCCCATGTGGAATCAGCAATGGTACTTGCAAGATACCAGGATGACGGCAGCC
CTGCCCAAGCTGGACCTTCATGTGATACCTGTTTGGCAAAAAGGCATTACGGGCAAAGGA
GTTGTTATCACCGTACTGGATGATGGTTTGGAGTGGAATCACACGGACATTTATGCCAAC
TATGATCCAGAGGCTAGCTATGATTTTAATGATAATGACCATGATCCATTTCCCCGATAT
GATCCCACAAACGAGAACAAACACGGGACCAGATGTGCAGGAGAAATTGCCATGCAAGCA
AATAATCACAAATGCGGGGTTGGAGTTGCATACAATTCCAAAGTTGGAGGCATAAGAATG
CTGGATGGCATTGTGACGGATGCTATTGAGGCCAGTTCAATTGGATTCAATCCTGGACAC
GTGGATATTTACAGTGCAAGCTGGGGCCCTAATGATGATGGGAAAACTGTGGAGGGGCCT
GGCCGGCTAGCCCAGAAGGCTTTTGAATATGGTGTCAAACAGGGGAGACAGGGGAAGGGG
TCCATCTTCGTCTGGGCTTCGGGAAACGGGGGGCGTCAGGGAGATAATTGTGACTGTGAT
GGCTACACAGACAGCATCTACACCATCTCCATCAGCAGTGCCTCCCAGCAAGGCCTATCC
CCCTGGTACGCTGAGAAGTGCTCCTCCACACTGGCCACCTCTTACAGCGGCGGAGATTAC
ACCGACCAGAGAATCACGAGCGCTGACCTGCACAATGACTGCACGGAGACGCACACAGGC
ACCTCGGCCTCTGCACCTCTGGCTGCTGGCATCTTCGCTCTGGCCCTGGAAGCAAACCCA
AATCTCACCTGGCGAGATATGCAGCACCTGGTTGTCTGGACCTCTGAGTATGACCCGCTG
GCCAATAACCCTGGATGGAAAAAGAATGGAGCAGGCTTGATGGTGAATAGTCGATTTGGA
TTTGGCTTGCTAAATGCCAAAGCTCTGGTGGATTTAGCTGACCCCAGGACCTGGAGGAGC
GTGCCTGAGAAGAAAGAGTGTGTTGTAAAGGACAATGACTTTGAGCCCAGAGCCCTGAAA
GCTAATGGAGAAGTTATCATTGAAATTCCAACAAGAGCTTGTGAAGGACAAGAAAATGCT
ATCAAGTCCCTGGAGCATGTACAATTTGAAGCAACAATTGAATATTCCCGAAGAGGAGAC
CTTCATGTCACACTTACTTCTGCTGCTGGAACTAGCACTGTGCTCTTGGCTGAAAGAGAA
CGGGATACATCTCCTAATGGCTTTAAGAACTGGGACTTCATGTCTGTTCACACATGGGGA
GAGAACCCTATAGGTACTTGGACTTTGAGAATTACAGACATGTCTGGAAGAATTCAAAAT
GAAGGAAGAATTGTGAACTGGAAGCTGATTTTGCACGGGACCTCTTCTCAGCCAGAGCAT
ATGAAGCAGCCTCGTGTGTACACGTCCTACAACACTGTTCAGAATGACAGAAGAGGGGTG
GAGAAGATGGTGGATCCAGGGGAGGAGCAGCCCACACAAGAGAACCCTAAGGAGAACACC
CTGGTGTCCAAAAGCCCCAGCAGCAGCAGCGTAGGGGGCCGGAGGGATGAGTTGGAGGAG
GGAGCCCCTTCCCAGGCCATGCTGCGACTCCTGCAAAGTGCTTTCAGTAAAAACTCACCG
CCAAAGCAATCACCAAAGAAGTCCCCAAGTGCAAAGCTCAACATCCCTTATGAAAACTTC
TACGAAGCCCTGGAAAAGCTGAACAAACCTTCCCAGCTTAAAGACTCTGAAGACAGTCTG
TATAATGACTATGTTGATGTTTTTTATAACACTAAACCTTACAAGCACAGAGACGACCGG
CTGCTTCAAGCTCTGGTGGACATTCTGAATGAGGAAAATTAA
Protein Properties
Number of Residues 753
Molecular Weight 84150.9
Theoretical pI 5.84
Pfam Domain Function
Signals
  • 1-27
Transmembrane Regions
  • None
Protein Sequence 
>Neuroendocrine convertase 1
MERRAWSLQCTAFVLFCAWCALNSAKAKRQFVNEWAAEIPGGPEAASAIAEELGYDLLGQ
IGSLENHYLFKHKNHPRRSRRSAFHITKRLSDDDRVIWAEQQYEKERSKRSALRDSALNL
FNDPMWNQQWYLQDTRMTAALPKLDLHVIPVWQKGITGKGVVITVLDDGLEWNHTDIYAN
YDPEASYDFNDNDHDPFPRYDPTNENKHGTRCAGEIAMQANNHKCGVGVAYNSKVGGIRM
LDGIVTDAIEASSIGFNPGHVDIYSASWGPNDDGKTVEGPGRLAQKAFEYGVKQGRQGKG
SIFVWASGNGGRQGDNCDCDGYTDSIYTISISSASQQGLSPWYAEKCSSTLATSYSSGDY
TDQRITSADLHNDCTETHTGTSASAPLAAGIFALALEANPNLTWRDMQHLVVWTSEYDPL
ANNPGWKKNGAGLMVNSRFGFGLLNAKALVDLADPRTWRSVPEKKECVVKDNDFEPRALK
ANGEVIIEIPTRACEGQENAIKSLEHVQFEATIEYSRRGDLHVTLTSAAGTSTVLLAERE
RDTSPNGFKNWDFMSVHTWGENPIGTWTLRITDMSGRIQNEGRIVNWKLILHGTSSQPEH
MKQPRVYTSYNTVQNDRRGVEKMVDPGEEQPTQENPKENTLVSKSPSSSSVGGRRDELEE
GAPSQAMLRLLQSAFSKNSPPKQSPKKSPSAKLNIPYENFYEALEKLNKPSQLKDSEDSL
YNDYVDVFYNTKPYKHRDDRLLQALVDILNEEN
GenBank ID Protein 35318
UniProtKB/Swiss-Prot ID P29120
UniProtKB/Swiss-Prot Entry Name NEC1_HUMAN
PDB IDs Not Available
GenBank Gene ID X64810
GeneCard ID PCSK1
GenAtlas ID PCSK1
HGNC ID HGNC:8743
References
General References
  1. Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet. 1999 Jul;22(3):231-8. [PubMed:10391209 ]
  2. Creemers JW, Roebroek AJ, Van de Ven WJ: Expression in human lung tumor cells of the proprotein processing enzyme PC1/PC3. Cloning and primary sequence of a 5 kb cDNA. FEBS Lett. 1992 Mar 23;300(1):82-8. [PubMed:1547893 ]
  3. Seidah NG, Hamelin J, Gaspar AM, Day R, Chretien M: The cDNA sequence of the human pro-hormone and pro-protein convertase PC1. DNA Cell Biol. 1992 May;11(4):283-9. [PubMed:1605851 ]
  4. Ohagi S, Sakaguchi H, Sanke T, Tatsuta H, Hanabusa T, Nanjo K: Human prohormone convertase 3 gene: exon-intron organization and molecular scanning for mutations in Japanese subjects with NIDDM. Diabetes. 1996 Jul;45(7):897-901. [PubMed:8666140 ]
  5. Jansen E, Ayoubi TA, Meulemans SM, Van de Ven WJ: Neuroendocrine-specific expression of the human prohormone convertase 1 gene. Hormonal regulation of transcription through distinct cAMP response elements. J Biol Chem. 1995 Jun 23;270(25):15391-7. [PubMed:7797529 ]
  6. Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S: Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet. 1997 Jul;16(3):303-6. [PubMed:9207799 ]
  7. Jackson RS, Creemers JW, Farooqi IS, Raffin-Sanson ML, Varro A, Dockray GJ, Holst JJ, Brubaker PL, Corvol P, Polonsky KS, Ostrega D, Becker KL, Bertagna X, Hutton JC, White A, Dattani MT, Hussain K, Middleton SJ, Nicole TM, Milla PJ, Lindley KJ, O'Rahilly S: Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest. 2003 Nov;112(10):1550-60. [PubMed:14617756 ]
  8. Farooqi IS, Volders K, Stanhope R, Heuschkel R, White A, Lank E, Keogh J, O'Rahilly S, Creemers JW: Hyperphagia and early-onset obesity due to a novel homozygous missense mutation in prohormone convertase 1/3. J Clin Endocrinol Metab. 2007 Sep;92(9):3369-73. Epub 2007 Jun 26. [PubMed:17595246 ]
  9. Benzinou M, Creemers JW, Choquet H, Lobbens S, Dina C, Durand E, Guerardel A, Boutin P, Jouret B, Heude B, Balkau B, Tichet J, Marre M, Potoczna N, Horber F, Le Stunff C, Czernichow S, Sandbaek A, Lauritzen T, Borch-Johnsen K, Andersen G, Kiess W, Korner A, Kovacs P, Jacobson P, Carlsson LM, Walley AJ, Jorgensen T, Hansen T, Pedersen O, Meyre D, Froguel P: Common nonsynonymous variants in PCSK1 confer risk of obesity. Nat Genet. 2008 Aug;40(8):943-5. doi: 10.1038/ng.177. Epub 2008 Jul 6. [PubMed:18604207 ]