ENSG00000006652


Homo sapiens

Features
Gene ID: ENSG00000006652
  
Biological name :IFRD1
  
Synonyms : IFRD1 / interferon related developmental regulator 1 / O00458
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q31.1
Gene start: 112422968
Gene end: 112481017
  
Corresponding Affymetrix probe sets: 202146_at (Human Genome U133 Plus 2.0 Array)   202147_s_at (Human Genome U133 Plus 2.0 Array)   230048_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000391379
Ensembl peptide - ENSP00000483255
Ensembl peptide - ENSP00000439188
Ensembl peptide - ENSP00000437250
Ensembl peptide - ENSP00000435635
Ensembl peptide - ENSP00000413893
Ensembl peptide - ENSP00000402453
Ensembl peptide - ENSP00000402177
Ensembl peptide - ENSP00000397592
Ensembl peptide - ENSP00000397314
Ensembl peptide - ENSP00000005558
Ensembl peptide - ENSP00000384477
NCBI entrez gene - 3475     See in Manteia.
OMIM - 603502
RefSeq - XM_017012151
RefSeq - NM_001007245
RefSeq - NM_001197079
RefSeq - NM_001197080
RefSeq - NM_001550
RefSeq - XM_011516142
RefSeq - XM_011516143
RefSeq Peptide - NP_001007246
RefSeq Peptide - NP_001184008
RefSeq Peptide - NP_001184009
RefSeq Peptide - NP_001541
swissprot - C9JLG5
swissprot - C9JK78
swissprot - C9JA65
swissprot - C9J7U6
swissprot - C9J311
swissprot - C9JNM6
swissprot - A4D0U1
swissprot - H0YEE3
swissprot - O00458
swissprot - E9PMY4
Ensembl - ENSG00000006652
  
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
 ifrd1ENSDARG00000068708Danio rerio
 IFRD1ENSGALG00000009448Gallus gallus
 Ifrd1ENSMUSG00000001627Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IFRD2 / Q12894 / interferon related developmental regulator 2ENSG0000021470649


Protein motifs (from Interpro)
Interpro ID Name
 IPR006921  Interferon-related developmental regulator, C-terminal
 IPR007701  Interferon-related developmental regulator, N-terminal
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007518 myoblast fate determination TAS
 biological_processGO:0014706 striated muscle tissue development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030517 negative regulation of axon extension IEA
 biological_processGO:0042692 muscle cell differentiation IEA
 biological_processGO:0043403 skeletal muscle tissue regeneration IEA
 biological_processGO:0048671 negative regulation of collateral sprouting IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0005488 binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000365 Hearing loss 
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001272 Cerebellar atrophy 
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 HP:0001284 Areflexia 
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 HP:0001310 Dysmetria 
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001761 Pes cavus 
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 HP:0002066 Gait ataxia "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators]
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 HP:0002346 Head tremor 
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 HP:0002395 Lower limb hyperreflexia 
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 HP:0002600 Hyporeflexia of lower limbs 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003474 Sensory impairment 
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 HP:0003477 Axonal neuropathy 
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 HP:0007141 Sensorimotor neuropathy 
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 HP:0010546 Muscle fibrillation "Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG." [HPO:curators]
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 HP:0030187 Titubation "Nodding movement of the head or body." [HPO:probinson, pmid:4821687]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr