ENSG00000102575


Homo sapiens

Features
Gene ID: ENSG00000102575
  
Biological name :ACP5
  
Synonyms : acid phosphatase 5, tartrate resistant / ACP5 / P13686
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: p13.2
Gene start: 11574660
Gene end: 11579008
  
Corresponding Affymetrix probe sets: 204638_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000468685
Ensembl peptide - ENSP00000468509
Ensembl peptide - ENSP00000468767
Ensembl peptide - ENSP00000218758
Ensembl peptide - ENSP00000392374
Ensembl peptide - ENSP00000413456
Ensembl peptide - ENSP00000464831
Ensembl peptide - ENSP00000465127
Ensembl peptide - ENSP00000465498
NCBI entrez gene - 54     See in Manteia.
OMIM - 171640
RefSeq - XM_011528069
RefSeq - NM_001111034
RefSeq - NM_001111035
RefSeq - NM_001111036
RefSeq - NM_001322023
RefSeq - NM_001611
RefSeq - XM_005259938
RefSeq Peptide - NP_001602
RefSeq Peptide - NP_001104504
RefSeq Peptide - NP_001104505
RefSeq Peptide - NP_001104506
RefSeq Peptide - NP_001308952
swissprot - K7EIP0
swissprot - K7EJD9
swissprot - P13686
swissprot - A0A024R7F8
swissprot - K7ES19
swissprot - K7ESF2
Ensembl - ENSG00000102575
  
Related genetic diseases (OMIM): 607944 - Spondyloenchondrodysplasia with immune dysregulation, 607944
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)
Ortholog nameID Species
 acp5aENSDARG00000019763Danio rerio
 Acp5ENSMUSG00000001348Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR004843  Calcineurin-like phosphoesterase domain, ApaH type
 IPR024927  Acid phosphatase, type 5
 IPR029052  Metallo-dependent phosphatase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006771 riboflavin metabolic process TAS
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0032691 negative regulation of interleukin-1 beta production IEA
 biological_processGO:0032695 negative regulation of interleukin-12 production IEA
 biological_processGO:0032720 negative regulation of tumor necrosis factor production IEA
 biological_processGO:0032929 negative regulation of superoxide anion generation IEA
 biological_processGO:0034097 response to cytokine IEA
 biological_processGO:0045019 negative regulation of nitric oxide biosynthetic process IEA
 biological_processGO:0045453 bone resorption IEA
 biological_processGO:0050728 negative regulation of inflammatory response IEA
 biological_processGO:0050830 defense response to Gram-positive bacterium IEA
 biological_processGO:0060349 bone morphogenesis IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016021 integral component of membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003993 acid phosphatase activity TAS
 molecular_functionGO:0008198 ferrous iron binding IDA
 molecular_functionGO:0008199 ferric iron binding IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Vitamin B2 (riboflavin) metabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000403 Recurrent otitis media 
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 HP:0000460 Narrow nose 
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 HP:0000684 Delayed dentition "Delayed eruption of teeth." [HPO:curators]
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 HP:0000821 Hypothyroidism 
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 HP:0000926 Platyspondyly 
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 HP:0000944 Abnormality of the metaphyses 
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 HP:0000979 Purpura 
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 HP:0001034 Hyperpigmented macules 
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 HP:0001045 Vitiligo 
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 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0001264 Spastic diplegia "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators]
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 HP:0001370 Rheumatoid arthritis 
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 HP:0001973 Immune thrombocytopenia 
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 HP:0002090 Pneumonia 
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 HP:0002091 Restrictive lung disease 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002478 Progressive spastic quadriplegia 
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 HP:0002657 Spondylometaphyseal dysplasia 
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 HP:0002716 Lymphadenopathy 
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 HP:0002751 Kyphoscoliosis 
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 HP:0002808 Kyphosis 
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 HP:0002938 Lumbar hyperlordosis 
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 HP:0002958 Immune dysregulation 
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 HP:0002983 Micromelia 
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 HP:0003025 Irregular metaphyses 
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 HP:0003301 Irregular vertebral endplates "An irregular surface of the vertebral end plates, which are normally relatively smooth." [HPO:curators]
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 HP:0003307 Hyperlordosis 
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 HP:0003312 Abnormal form of the vertebral bodies 
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 HP:0003621 Juvenile onset 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004979 Sclerotic, widened metaphyses 
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 HP:0005374 Cellular immunodeficiency 
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 HP:0005387 Combined immunodeficiency 
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 HP:0005403 Reduced number of T cells 
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 HP:0005576 Tubulointerstitial fibrosis 
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 HP:0005930 Abnormality of the epiphyses 
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 HP:0007526 Hypopigmented skin patches on arms 
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 HP:0008818 Large, flared iliac wings 
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 HP:0008905 Rhizomelic short stature 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000102575 ACP5 / P13686 / acid phosphatase 5, tartrate resistant  / complex






 

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