ENSG00000120054
Homo sapiens | |
Features
| Gene ID: | ENSG00000120054 | | | | | Biological name : | CPN1 | | | | | Synonyms : | carboxypeptidase N subunit 1 / CPN1 / P15169 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 10 | | Strand: | -1 | | Band: | q24.2 | | Gene start: | 100042193 | | Gene end: | 100081877 | | | | | Corresponding Affymetrix probe sets: | 206256_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000359446
Ensembl peptide - ENSP00000410895
NCBI entrez gene - 1369
See in Manteia.
OMIM - 603103
RefSeq - NM_001308
RefSeq Peptide - NP_001299
swissprot - B1AP58
swissprot - P15169
Ensembl - ENSG00000120054
| | | | | Related genetic diseases (OMIM): | 212070 - Carboxypeptidase N deficiency, 212070 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000834 | Peptidase M14, carboxypeptidase A | | IPR008969 | Carboxypeptidase-like, regulatory domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000951 | Abnormality of the skin | "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] |
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| | HP:0001939 | Metabolism abnormality | |
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Interacting proteins (from Reactome)
0 s.
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