ENSG00000102001


Homo sapiens

Features
Gene ID: ENSG00000102001
  
Biological name :CACNA1F
  
Synonyms : CACNA1F / calcium voltage-gated channel subunit alpha1 F / O60840
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p11.23
Gene start: 49205063
Gene end: 49233371
  
Corresponding Affymetrix probe sets: 208377_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000321618
Ensembl peptide - ENSP00000365427
Ensembl peptide - ENSP00000365441
Ensembl peptide - ENSP00000418961
NCBI entrez gene - 778     See in Manteia.
OMIM - 300110
RefSeq - XM_011543983
RefSeq - NM_001256789
RefSeq - NM_001256790
RefSeq - NM_005183
RefSeq Peptide - NP_001243718
RefSeq Peptide - NP_001243719
RefSeq Peptide - NP_005174
swissprot - O60840
swissprot - H7C549
Ensembl - ENSG00000102001
  
Related genetic diseases (OMIM): 300071 - Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071
  300476 - Cone-rod dystrophy, X-linked, 3, 300476
  300600 - Aland Island eye disease, 300600
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
 cacna1faENSDARG00000010933Danio rerio
 cacna1fbENSDARG00000023683Danio rerio
 FO082780.1ENSDARG00000115528Danio rerio
 Cacna1fENSMUSG00000031142Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q01668 / CACNA1D / calcium voltage-gated channel subunit alpha1 DENSG0000015738867
Q13936 / CACNA1C / calcium voltage-gated channel subunit alpha1 CENSG0000015106762
Q13698 / CACNA1S / calcium voltage-gated channel subunit alpha1 SENSG0000008124855
Q00975 / CACNA1B / calcium voltage-gated channel subunit alpha1 BENSG0000014840840
O00555 / CACNA1A / calcium voltage-gated channel subunit alpha1 AENSG0000014183739
Q15878 / CACNA1E / calcium voltage-gated channel subunit alpha1 EENSG0000019821638
NALCN / Q8IZF0 / sodium leak channel, non-selectiveENSG0000010245218
Q8NEC5 / CATSPER1 / cation channel sperm associated 1ENSG000001752948


Protein motifs (from Interpro)
Interpro ID Name
 IPR002077  Voltage-dependent calcium channel, alpha-1 subunit
 IPR005446  Voltage-dependent calcium channel, L-type, alpha-1 subunit
 IPR005821  Ion transport domain
 IPR014873  Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
 IPR030157  Voltage-dependent calcium channel, L-type, alpha-1F subunit
 IPR031649  Voltage-dependent L-type calcium channel, IQ-associated domain
 IPR031688  Voltage-gated calcium channel subunit alpha, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0043029 T cell homeostasis IEA
 biological_processGO:0050856 regulation of T cell receptor signaling pathway IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0050908 detection of light stimulus involved in visual perception IMP
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0061337 cardiac conduction TAS
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0086010 membrane depolarization during action potential IBA
 cellular_componentGO:0001750 photoreceptor outer segment IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005891 voltage-gated calcium channel complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043204 perikaryon IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005245 voltage-gated calcium channel activity IDA
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0008331 high voltage-gated calcium channel activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Phase 0 - rapid depolarisation
Phase 2 - plateau phase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000483 Astigmatism 
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000512 Abnormal electroretinogram "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators]
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 HP:0000541 Detached retina 
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 HP:0000543 Pale optic disks 
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 HP:0000545 Myopia 
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 HP:0000548 Cone-rod dystrophy 
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 HP:0000551 Abnormal color vision 
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 HP:0000603 Central scotoma 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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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:0000662 Night blindness 
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 HP:0001022 Albinism 
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 HP:0001141 Severe visual impairment 
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 HP:0001417 X-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001939 Metabolism abnormality 
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 HP:0007642 Congenital stationary night blindness 
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 HP:0007663 Decreased central vision 
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0007750 Foveal hypoplasia 
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 HP:0007766 Hypoplastic optic disks 
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 HP:0007894 Hypopigmentation of the fundus 
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 HP:0008002 Macular pigmentary changes 
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 HP:0008323 Abnormal rod and cone electroretinograms 
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 HP:0011003 Severe Myopia 
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 HP:0030513 Difficulty adjusting from light to dark 
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 HP:0030825 Absent foveal reflex "Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope." [HPO:probinson, PMID:27491360]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000007402 Q9NY47 / CACNA2D2 / calcium voltage-gated channel auxiliary subunit alpha2delta 2  / complex
 ENSG00000151062 Q7Z3S7 / CACNA2D4 / calcium voltage-gated channel auxiliary subunit alpha2delta 4  / complex
 ENSG00000157445 Q8IZS8 / CACNA2D3 / calcium voltage-gated channel auxiliary subunit alpha2delta 3  / complex
 ENSG00000067191 CACNB1 / Q02641 / calcium voltage-gated channel auxiliary subunit beta 1  / complex
 ENSG00000165995 CACNB2 / Q08289 / calcium voltage-gated channel auxiliary subunit beta 2  / complex
 ENSG00000182389 CACNB4 / O00305 / calcium voltage-gated channel auxiliary subunit beta 4  / complex
 ENSG00000167535 CACNB3 / P54284 / calcium voltage-gated channel auxiliary subunit beta 3  / complex
 ENSG00000153956 P54289 / CACNA2D1 / calcium voltage-gated channel auxiliary subunit alpha2delta 1  / complex






 

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