CACNA1F

GENERAL INFORMATION

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Gene name

CACNA1F

Gene description

Calcium channel, voltage-dependent, L type, alpha 1F subunit

Protein class

Disease related genes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Predicted localization

Intracellular,Membrane

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Tissue enhanced (small intestine)

Protein evidence

Evidence at protein level

ANTIBODY RELIABILITY

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Data reliability

Pending normal tissue annotation.
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A


PROTEIN EXPRESSION OVERVIEW

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Pending normal tissue annotation.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (small intestine)

Organ

Expression



GENE INFORMATION

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Gene name

CACNA1F (HGNC Symbol)

Synonyms

AIED, Cav1.4, CORDX3, CSNB2, CSNB2A, CSNBX2, JM8, JMC8, OA2

Description

Calcium channel, voltage-dependent, L type, alpha 1F subunit (HGNC Symbol)

Entrez gene summary

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]

Chromosome

X

Cytoband

p11.23

Chromosome location (bp)

49205063 - 49233371

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000102001 (version 78.38)

Entrez gene

778

UniProt

O60840 (UniProt - Evidence at protein level)

neXtProt

NX_O60840

Antibodypedia

CACNA1F antibodies


PROTEIN BROWSER

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ENST00000323022
 
ENST00000376251
 
ENST00000376265
 
ENST00000486943
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CACNA1F-001 ENSP00000321618
ENST00000323022
O60840
Show all »
Show » Show » 1966 219.5 No >9
CACNA1F-002 ENSP00000365427
ENST00000376251
O60840
Show all »
Show » Show » 1912 214 No >9
CACNA1F-005 ENSP00000418961
ENST00000486943
H7C549
Show all »
Show » 116 13.2 No 0
CACNA1F-007 ENSP00000365441
ENST00000376265
O60840
Show all »
Show » Show » 1977 220.7 No >9