ENSMUSG00000030513


Mus musculus

Features
Gene ID: ENSMUSG00000030513
  
Biological name :Pcsk6
  
Synonyms : Pcsk6 / proprotein convertase subtilisin/kexin type 6
  
Possible biological names infered from orthology : P29122
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: C
Gene start: 65861734
Gene end: 66050386
  
Corresponding Affymetrix probe sets: 10553967 (MoGene1.0st)   1426981_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000135851
Ensembl peptide - ENSMUSP00000053742
Ensembl peptide - ENSMUSP00000095992
Ensembl peptide - ENSMUSP00000135033
NCBI entrez gene - 18553     See in Manteia.
MGI - MGI:102897
RefSeq - NM_011048
RefSeq - NM_001291184
RefSeq Peptide - NP_035178
RefSeq Peptide - NP_001278113
swissprot - H3BJL4
swissprot - F6XJP7
swissprot - E9Q4D0
swissprot - H3BLN2
Ensembl - ENSMUSG00000030513
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pcsk6ENSDARG00000104574Danio rerio
 PCSK6ENSGALG00000030076Gallus gallus
 PCSK6ENSG00000140479Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pcsk5 / Q04592 / Proprotein convertase subtilisin/kexin type 5 / Q92824*ENSMUSG0000002471354
Furin / P23188 / P09958* / furin, paired basic amino acid cleaving enzyme*ENSMUSG0000003053037
Pcsk4 / P29121 / Proprotein convertase subtilisin/kexin type 4 / Q6UW60*ENSMUSG0000002013132
Pcsk1 / P63239 / Neuroendocrine convertase 1 / P29120* / proprotein convertase subtilisin/kexin type 1*ENSMUSG0000002158731
Pcsk7 / Q61139 / Proprotein convertase subtilisin/kexin type 7 / Q16549*ENSMUSG0000003538228
Pcsk2 / P21661 / proprotein convertase subtilisin/kexin type 2 / P16519*ENSMUSG0000002741928


Protein motifs (from Interpro)
Interpro ID Name
 IPR000209  Peptidase S8/S53 domain
 IPR000742  EGF-like domain
 IPR002884  P domain
 IPR006212  Furin-like repeat
 IPR008979  Galactose-binding-like domain superfamily
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR010909  PLAC
 IPR015500  Peptidase S8, subtilisin-related
 IPR022398  Peptidase S8, subtilisin, His-active site
 IPR023827  Peptidase S8, subtilisin, Asp-active site
 IPR023828  Peptidase S8, subtilisin, Ser-active site
 IPR032778  Growth factor receptor domain 4
 IPR032815  Peptidase S8, pro-domain
 IPR034182  Kexin/furin catalytic domain
 IPR036852  Peptidase S8/S53 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0007354 zygotic determination of anterior/posterior axis, embryo IMP
 biological_processGO:0007368 determination of left/right symmetry IGI
 biological_processGO:0009100 glycoprotein metabolic process ISO
 biological_processGO:0016485 protein processing ISO
 biological_processGO:0016486 peptide hormone processing ISO
 biological_processGO:0032902 nerve growth factor production ISO
 biological_processGO:0032940 secretion by cell ISO
 cellular_componentGO:0005615 extracellular space ISO
 cellular_componentGO:0009986 cell surface ISO
 cellular_componentGO:0031012 extracellular matrix ISO
 molecular_functionGO:0004175 endopeptidase activity ISO
 molecular_functionGO:0004252 serine-type endopeptidase activity ISO
 molecular_functionGO:0008201 heparin binding ISO
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0048406 nerve growth factor binding ISO


Pathways (from Reactome)
Pathway description
NGF processing
Formation of the cornified envelope
Assembly of active LPL and LIPC lipase complexes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0000644 dextrocardia "cardiac apex pointing to the right as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0001126 abnormal ovary morphology "malformed female reproductive gland containing the germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0001927 abnormal oestrous cycle (sensu Rodentia) "failure of or aberrant timing of the sexual cycle of female animals" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0002016 ovarian cysts "cystic ovary; usually refers to a benign growth" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0002230 abnormal primitive streak formation "anomaly in the establishment of the midline ridge of embryonic epiblast that later develops into mesoderm and endoderm" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0002582 disorganized extraembryonic tissue "a lack of the regular arrangement of the membranes involved with the embryo s protection and nutrition" [J:40596, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0002633 persistent truncus arteriosis "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0002777 absent ovarian follicles "lack of the sac-like structures in the ovaries that surround the ova" [J:42612, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0003087 absent allantois "missing fetal membrane which contributes to the formation of the umbilical cord and placenta" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0003178 left pulmonary isomerism "bilaterally symmetric left lung pattern (or altered asymmetric patterning of the lung)" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93051]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0003632 abnormal nervous system morphology 
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0003699 abnormal female reproductive system physiology "anomaly in the function of the female organs associated with producing offspring " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0005030 absent amnion "missing innermost of the extraembryonic membranes" [dlb:Donna Burkart , Mouse Genome Informatics Curator, J:57761]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0005163 cyclopia "a congenital defect in which the two orbits are united to form a single cavity containing one eye" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60303]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0005221 abnormal rostral-caudal axis patterning "anomaly in the development or formation of the axis that runs from the head to the tail of the body" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0008000 ovary tumor "presence of abnormal rapidly proliferating cells in the ovary, usually in the form of a distinct mass" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0008384 absent nasal capsule "absence of the cartilage around the developing nasal cavity of the embryo" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0008995 early reproductive senescence "loss of reproductive capacity occurring at an earlier than expected age" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0009593 absent chorion "absence of the outermost extraembryonic membrane" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0010287 increased reproductive system tumor incidence "greater than the expected number of tumors originating in the reproductive system in a given population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0010308 decreased tumor latency "earlier onset of tumor occurrence than expected" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0010335 fused first branchial arch "the first arch fails to fully divide along the midline" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0010406 absent atrial septum "absence of the thin membranous structure between the two heart atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0010432 common ventricle "the presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0010736 abnormal extraembryonic ectoderm morphology "any structural anomaly of the layer of the ectoderm of the extraembryonic tissue" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0011095 complete embryonic lethality between implantation and placentation "death of all organisms of a given genotype in a population between the point of implantation and the initiation of placentation (Mus: E4.5 to less than E9)" [MGI:csmith]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0011109 partial lethality throughout fetal growth and development "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0011189 small embryonic epiblast "reduced size of the tissue derived from the inner cell mass that gives rise to the ectoderm, endoderm and mesoderm of the embryo proper and to the extraembryonic mesoderm" [PMID:21123814]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0012084 truncated foregut "shortened foregut that terminates abruptly as if having an end or point cut off" [MGI:anna]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0012685 abnormal primitive streak elongation "any anomaly in the process by which the primitive streak extends anteriorly and elongates towards the distal (cranial) end of the embryo to reach its full length" [MGI:anna]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0013906 absent embryonic telencephalon "absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops" [MGI:Anna]
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Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0030268 agnathia "congenital, complete or partial, absence of one or both jaws; total absence of the maxilla and/or mandible is extremely rare in mammals; when agnathia occurs, it may be combined with cyclopia or synotia" [https://mdefine.org/a/agnathia-37b.html]
Show

Allelic Composition: Pcsk1tm1Dfs/Pcsk1+
Genetic Background: involves: 129 * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000027859 Ngf / P01139 / Beta-nerve growth factor / P01138* / nerve growth factor*  / reaction
 ENSMUSG00000022579 Q9D1N2 / Gpihbp1 / GPI-anchored HDL-binding protein 1 / Q8IV16* / glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1*  / reaction
 ENSMUSG00000015568 Lpl / P11152 / lipoprotein lipase / P06858*  / reaction






 

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