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CACNA1F Gene

protein-coding   GIFtS: 65
GCID: GC0XM049061

Calcium Channel, Voltage-Dependent, L Type, Alpha 1F Subunit

(Previous names: Aland island eye disease (Forsius-Eriksson ocular albinism,...)
(Previous symbols: CSNB2, AIED)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Calcium Channel, Voltage-Dependent, L Type, Alpha 1F Subunit1 2     COD42
AIED1 2 5     CORDX2
CSNB21 2 5     CSNBX22
Voltage-Gated Calcium Channel Subunit Alpha Cav1.42 3     Cav1.42
CORDX32 5     Cav1.4alpha12
CSNB2A2 5     JM82
OA22 5     JMC82
Aland Island Eye Disease (Forsius-Eriksson Ocular Albinism, Ocular
Albinism Type 2)1
     Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1F2
COD32     CACNAF13

External Ids:    HGNC: 13931   Entrez Gene: 7782   Ensembl: ENSG000001020017   OMIM: 3001105   UniProtKB: O608403   

Export aliases for CACNA1F gene to outside databases

Previous GC identifers: GC0XM047844 GC0XM047302 GC0XM047868 GC0XM048087 GC0XM048817 GC0XM048948 GC0XM046718


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CACNA1F Gene:
This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent
calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of
alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked
eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye
disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. (provided by
RefSeq, Aug 2013)

GeneCards Summary for CACNA1F Gene:
CACNA1F (calcium channel, voltage-dependent, L type, alpha 1F subunit) is a protein-coding gene. Diseases associated with CACNA1F include cacna1f-related x-linked congenital stationary night blindness, and aland island eye disease. GO annotations related to this gene include voltage-gated calcium channel activity. An important paralog of this gene is SCN5A.

UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840
Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are
also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or
neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F
gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage
activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by
omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and
omega-agatoxin-IVA (omega-Aga-IVA)

summary for CACNA1F Gene:
Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium
influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion,
neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct
subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and
gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of
voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families.
Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated
dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).

Gene Wiki entry for CACNA1F (Cav1.4) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_079573.5  
Regulatory elements:
   Regulatory transcription factor binding sites in the CACNA1F gene promoter:
         RP58   Sp1   Pax-6   SREBP-1c   Tal-1beta   GATA-2   SREBP-1b   HNF-4alpha1   SREBP-1a   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACNA1F promoter sequence
   Search Chromatin IP Primers for CACNA1F

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CACNA1F


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.23

CACNA1F Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACNA1F gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM049061:  view genomic region     (about GC identifiers)

Start:
49,061,523 bp from pter      End:
49,089,833 bp from pter
Size:
28,311 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840 (See protein sequence)
Recommended Name: Voltage-dependent L-type calcium channel subunit alpha-1F  
Size: 1977 amino acids; 220678 Da
Subunit: Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and
delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive
alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel
activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel
activity. Interacts (via IQ domain) with CABP4; in a calcium independent manner (By similarity)
Sequence caution: Sequence=AAB92359.1; Type=Erroneous gene model prediction;
Secondary accessions: A6NI29 F5CIQ9 O43901 O95226 Q9UHB1
Alternative splicing: 3 isoforms:  O60840-1   O60840-2   O60840-4   

Explore the universe of human proteins at neXtProt for CACNA1F: NX_O60840

Explore proteomics data for CACNA1F at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn295
  • Modification sites at PhosphoSitePlus

  • See CACNA1F Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001243718.1  NP_001243719.1  NP_005174.2  

    ENSEMBL proteins: 
     ENSP00000365427   ENSP00000321618   ENSP00000365441   ENSP00000418961  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CACN: Calcium channel subunits
    CACN1: Voltage-gated ion channels / Calcium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Cav1.4
    Voltage-gated calcium channels

    5 InterPro protein domains:
     IPR005446 VDCC_L_a1su
     IPR014873 VDCC_a1su_IQ
     IPR005821 Ion_trans_dom
     IPR027359 Channel_four-helix_dom
     IPR002077 VDCCAlpha1

    Graphical View of Domain Structure for InterPro Entry O60840

    ProtoNet protein and cluster: O60840

    2 Blocks protein domains:
    IPB002077 Calcium channel signature
    IPB005446 L-type voltage-dependent calcium channel alpha-1 subunit signature


    UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840
    Domain: Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6)
    and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are
    characterized by a series of positively charged amino acids at every third position
    Similarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1F subfamily


    CACNA1F for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CAC1F_HUMAN, O60840
    Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are
    also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or
    neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F
    gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage
    activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by
    omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and
    omega-agatoxin-IVA (omega-Aga-IVA)

         Genatlas biochemistry entry for CACNA1F:
    transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,dihydropyridine (DHP)
    sensitive,alpha 1F subunit,specifically expressed in retina

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005245voltage-gated calcium channel activity IDA15897456
    GO:0046872metal ion binding IEA--
         
    CACNA1F for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Cacna1f):
     nervous system  no phenotypic analysis  vision/eye 

    CACNA1F for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CACNA1F: Cacna1ftm1Ntbh Cacna1ftm1.1Sdie

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CACNA1F
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CACNA1F

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CAC1F_HUMAN, O60840: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IEA--
    GO:0005891voltage-gated calcium channel complex IDA15897456
    GO:0016020membrane ----
    GO:0016021integral component of membrane IDA15897456
    GO:0043025neuronal cell body ----

    CACNA1F for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CACNA1F About   (see all 31)  
    See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    2Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    3TCR Signaling (Qiagen)
    PKC-Theta Pathway0.68
    Fc-EpsilonRI Pathway0.49
    TCR Signaling0.68
    PDGF Pathway0.39
    ITK and TCR Signaling0.54
    4DREAM Repression and Dynorphin Expression
    DREAM Repression and Dynorphin Expression0.44
    Caspase Cascade0.36
    BMP Pathway0.44
    Calpain Protease Regulates Cellular Mechanics0.31
    nNOS Signaling in Skeletal Muscle0.37
    5Circadian entrainment
    GABAergic synapse0.53
    Cholinergic synapse0.37
    Retrograde endocannabinoid signaling0.51
    Serotonergic synapse0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CACNA1F (see all 37)
        Caspase Cascade
    Fc-GammaR Pathway
    Intracellular Calcium Signaling
    PDGF Pathway
    BMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for CACNA1F
        Transcription CREB pathway

    2 BioSystems Pathways for CACNA1F
        Arrhythmogenic right ventricular cardiomyopathy
    Alzheimers Disease

    2 PharmGKB Pathways for CACNA1F
        Celecoxib Pathway, Pharmacodynamics
    Valproic Acid Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for CACNA1F) (see all 16):
        MAPK signaling pathway
    Calcium signaling pathway
    Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Vascular smooth muscle contraction


    CACNA1F for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CACNA1F: 
              T Helper Cell Differentiation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CACNA1F

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CACNA1F (O608403 ENSP000003654414) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    CABP4P577963, ENSP000003249604I2D: score=2 STRING: ENSP00000324960
    CACNA1CENSP000002663764STRING: ENSP00000266376
    CACNA1DENSP000002881394STRING: ENSP00000288139
    CACNA1GENSP000003520114STRING: ENSP00000352011
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006874cellular calcium ion homeostasis IEA--
    GO:0007409axonogenesis IEA--
    GO:0007601visual perception IMP16505158
    GO:0048813dendrite morphogenesis IEA--

    CACNA1F for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Compounds for CACNA1F available from Tocris Bioscience    About this table
    CompoundAction CAS #
    omega-Conotoxin GVIACa2+ channel blocker (N-type)[106375-28-4]
    (+-)-Bay K 8644Ca2+-channel activator (L-type)[71145-03-4]
    NNC 55-0396 dihydrochlorideHighly selective Ca2+ channel blocker (T-type)[357400-13-6]
    PregabalinAnticonvulsant. Selectively binds the alpha2delta subunit of voltage-sensitive calcium channels[148553-50-8]
    Mibefradil dihydrochlorideCa2+ channel blocker (T-type)[116644-53-2]

    2 HMDB Compounds for CACNA1F    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    VerapamilAkilen (see all 107)52-53-9--

    6 DrugBank Compounds for CACNA1F    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NimodipineNimodipino [INN-Spanish] (see all 2)66085-59-4targetinhibitor20335610 20334460 19844625 20661350
    Mibefradil-- 116644-53-2targetinhibitor10372226 10665814 16899990
    Cinnarizine-- 298-57-7targetinhibitor3530295 1281221
    Clevidipine-- 166432-28-6target--15492770
    VerapamilVerapamil [Usan:Ban:Inn] (see all 4)52-53-9targetinhibitor19125880
    Dronedarone-- 141626-36-0target----

    4 IUPHAR Ligands for CACNA1F (Cav1.4)    About this table
    LigandTypeActionAffinityPubmed IDs
    nifedipine
    Gating inhibitorNone614973233
    (-)-(S)-BayK8644
    ActivatorNone6--
    isradipine
    Gating inhibitorNone612853422
    BAYK 8644
    ActivatorNone614973233 12853422 16476079

    1 Novoseek inferred chemical compound relationship for CACNA1F gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 47 13 11078833 (1), 11526344 (1), 12719097 (1), 14973233 (1) (see all 12)



    CACNA1F for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CACNA1F gene (3 alternative transcripts): 
    NM_001256789.2  NM_001256790.2  NM_005183.3  

    Unigene Cluster for CACNA1F:

    Calcium channel, voltage-dependent, L type, alpha 1F subunit
    Hs.632799  [show with all ESTs]
    Unigene Representative Sequence: NM_005183
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376251 ENST00000323022(uc010nip.3) ENST00000376265(uc004dnb.3)
    ENST00000486943 ENST00000481035 ENST00000480889
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    Additional mRNA sequence: 

    AF067227.1 AF201304.1 AJ224874.1 JF701915.1 

    6 DOTS entries:

    DT.40280271  DT.100745280  DT.92069916  DT.100738011  DT.100745281  DT.101961842 

    24 AceView cDNA sequences:

    BQ636841 CK301055 BX099776 BM932223 CD369408 AJ224874 AF201304 BM681368 
    BM728193 AF067227 NM_005183 BM703915 BM684979 AL712794 BU619350 AA317815 
    BM685216 BQ186213 BF847103 CD369391 BM931932 AA019974 BX642510 AA019975 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CACNA1F expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCACAAAA
    CACNA1F Expression
    About this image


    CACNA1F expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Rod Cells Outer Nuclear Layer
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
    CACNA1F Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CACNA1F Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632799

    UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840
    Tissue specificity: Expression in skeletal muscle and retina

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CACNA1F gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacna1f1 , 5 calcium channel, voltage-dependent, alpha 1F subunit1, 5 87.51(n)1
    91.96(a)1
      X (3.42 cM)5
    546521  NM_019582.21  NP_062528.21 
     76070835 
    lizard
    (Anolis carolinensis)
    Reptilia CACNA1F6
    calcium channel, voltage-dependent, L type, alpha ...
    70(a)
    1 ↔ 1
    2(88972855-89061105)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cacna1f1 calcium channel, voltage-dependent, L type, alpha 1F more 69.58(n)
    76.2(a)
      100485906  XM_002940972.2  XP_002941018.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5599641 novel protein similar to vertebrate voltage-dependent more 67.73(n)
    72.95(a)
      559964  XM_003199086.2  XP_003199134.2 


    ENSEMBL Gene Tree for CACNA1F (if available)
    TreeFam Gene Tree for CACNA1F (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CACNA1F gene
    SCN5A2  SCN9A2  CACNA1D2  SCN7A2  CACNA1I2  CACNA1G2  SCN8A2  SCN10A2  
    SCN3A2  SCN2A2  CACNA1S2  CACNA1C2  CACNA1H2  SCN11A2  SCN4A2  SCN1A2  
    8 SIMAP similar genes for CACNA1F using alignment to 2 protein entries:     CAC1F_HUMAN (see all proteins):
    CACNA1D    SCN5A    CACNA1S    CACNA1C    TPCN1    CACNA1A
    SCN4A    CACNA1E

    CACNA1F for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CACNA1F (see all 610)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1410107161,2,,4
    C,FNight blindness, congenital stationary, 2A (CSNB2A)4 --49000964(+) GGTGAC/TCTTAA 6 I V mis11Minor allele frequency- T:0.00NA 3252
    rs341626301,2,,4
    C,F,HNight blindness, congenital stationary, 2A (CSNB2A)4 --49002233(-) CCTTCG/AGGCAC 6 /Q /R mis16Minor allele frequency- A:0.02NA NS 3666
    VAR_0015064
    Night blindness, congenital stationary, 2A (CSNB2A)4--see VAR_0015062 R W mis40--------
    VAR_0308134
    Night blindness, congenital stationary, 2A (CSNB2A)4--see VAR_0308132 G D mis40--------
    VAR_0308084
    Night blindness, congenital stationary, 2A (CSNB2A)4--see VAR_0308082 C R mis40--------
    VAR_0308224
    Night blindness, congenital stationary, 2A (CSNB2A)4--see VAR_0308222 L P mis40--------
    VAR_0308204
    Night blindness, congenital stationary, 2A (CSNB2A)4--see VAR_0308202 C R mis40--------
    VAR_0308154
    Night blindness, congenital stationary, 2A (CSNB2A)4--see VAR_0308152 I T mis40--------
    VAR_0308094
    Night blindness, congenital stationary, 2A (CSNB2A)4--see VAR_0308092 G R mis40--------
    VAR_0308184
    Night blindness, congenital stationary, 2A (CSNB2A)4--see VAR_0308182 G R mis40--------

    HapMap Linkage Disequilibrium report for CACNA1F (49061523 - 49089833 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CACNA1F:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6895CNV Insertion18451855
    nsv528292CNV Gain19592680
    nsv471602CNV Gain15918152
    esv32909CNV Gain+Loss17666407
    nsv469734CNV Complex16826518
    nsv7442OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): CACNA1F
    Locus Specific Mutation Databases (LSDB): CACNA1F

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CACNA1F
    DNA2.0 Custom Variant and Variant Library Synthesis for CACNA1F

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300110   
    OMIM disorders: 300071  300476  300600  
    UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840
  • Night blindness, congenital stationary, 2A (CSNB2A) [MIM:300071]: A non-progressive retinal disorder
    characterized by impaired night vision, often associated with nystagmus and myopia. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Cone-rod dystrophy, X-linked 3 (CORDX3) [MIM:300476]: An inherited retinal dystrophy characterized by
    retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of
    cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the
    central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in
    retinitis pigmentosa. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Aaland island eye disease (AIED) [MIM:300600]: A retinal disease characterized by a combination of fundus
    hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision
    defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be
    considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic
    functions. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for CACNA1F (see all 30):    
    About MalaCards
    cacna1f-related x-linked congenital stationary night blindness    aland island eye disease    eye disease    night blindness, congenital stationary , 2a, x-linked
    hereditary night blindness    x-linked congenital stationary night blindness    cone-rod dystropy, x-linked, 3    night blindness
    ocular albinism    congenital stationary night blindness    blindness    fundus albipunctatus
    albinism    night blindness, congenital stationary , 1d, autosomal recessive    astigmatism    hyperopia
    pigmentary retinopathy    cone-rod dystrophy 2    cone-rod dystrophy    retinal disease

    7 diseases from the University of Copenhagen DISEASES database for CACNA1F:
    Congenital stationary night blindness     Aland Island eye disease     Myopia     Hereditary night blindness
    Hyperopia     Astigmatism     Fundus albipunctatus

    CACNA1F for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for CACNA1F gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    csnb2 99 35 20238058 (3), 15584351 (2), 9662400 (2), 16960802 (2) (see all 19)
    night blindness, congenital stationary 97.9 18 12719097 (2), 10900517 (1), 12860808 (1), 16505158 (1) (see all 16)
    csnb1 92.9 4 15584351 (1), 15583843 (1), 12187427 (1), 12610835 (1)
    oguchis disease 89.7 1 15584351 (1)
    night blindness 85.3 2 11078833 (1), 20238058 (1)
    retinopathy 61.5 7 15807819 (2), 16505158 (1), 12719097 (1), 11890456 (1) (see all 6)
    atrophy 6.37 6 12860808 (2), 12208270 (1)

    GeneTests: CACNA1F
    GeneReviews: CACNA1F
    Genetic Association Database (GAD): CACNA1F
    Human Genome Epidemiology (HuGE) Navigator: CACNA1F (3 documents)

    Export disorders for CACNA1F gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CACNA1F gene, integrated from 10 sources (see all 80):
    (articles sorted by number of sources associating them with CACNA1F)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel CACNA1F gene mutation causes Aland Island eye disease. (PubMed id 17525176)1, 2, 3, 9 Jalkanen R.... Alitalo T. (Invest. Ophthalmol. Vis. Sci. 2007)
    2. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. (PubMed id 9662400)1, 2, 3, 9 Bech-Hansen N.T.... Boycott K.M. (Nat. Genet. 1998)
    3. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. (PubMed id 12111638)1, 2, 3 Wutz K.... Pusch C.M. (Eur. J. Hum. Genet. 2002)
    4. Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. (PubMed id 9344658)1, 2, 3 Fisher S.E.... Craig I.W. (Genomics 1997)
    5. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. (PubMed id 16505158)1, 2, 9 Jalkanen R.... Bech-Hansen N.T. (J. Med. Genet. 2006)
    6. Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. (PubMed id 12860808)1, 4, 9 Nakamura M....Miyake Y. (Arch. Ophthalmol. 2003)
    7. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. (PubMed id 15897456)1, 2, 9 Hemara-Wahanui A.... Maw M.A. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    8. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. (PubMed id 16960802)1, 2, 9 Zeitz C.... Berger W. (Am. J. Hum. Genet. 2006)
    9. Isolation and characterization of a calcium channel gene, cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness. (PubMed id 10873387)1, 2, 9 Naylor M.J.... Bech-Hansen N.T. (Genomics 2000)
    10. Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). (PubMed id 12187427)1, 2, 9 Weleber R.G. (Ophthalmic Genet. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 778 HGNC: 1393 AceView: CACNA1F Ensembl:ENSG00000102001 euGenes: HUgn778
    ECgene: CACNA1F Kegg: 778 H-InvDB: CACNA1F

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CACNA1F Pharmacogenomics, SNPs, Pathways
    Mutations of the CCNA1F genehttp://www.retina-international.org/files/sci-news/cacnamut.htm

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CACNA1F gene:
    Search GeneIP for patents involving CACNA1F

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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