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CACNA1F

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GENERAL INFORMATION

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Cell line enhanced (U-266/70)

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (U-266/70)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

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 83.38)

Entrez gene

 778

UniProt

 O60840 (UniProt - Evidence at protein level)

neXtProt

 NX_O60840

Antibodypedia

 CACNA1F antibodies

PROTEIN BROWSER
CACNA1F-001
CACNA1F-002
CACNA1F-005
CACNA1F-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CACNA1F-001
ENSP00000321618
ENST00000323022
O60840 [Direct mapping]
Voltage-dependent L-type calcium channel subunit alpha-1F
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Calcium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0005216 [ion channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0007601 [visual perception]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0043029 [T cell homeostasis]
GO:0046872 [metal ion binding]
GO:0050856 [regulation of T cell receptor signaling pathway]
GO:0050908 [detection of light stimulus involved in visual perception]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 1966 aa
219.5 kDa 		No >9
CACNA1F-002
ENSP00000365427
ENST00000376251
O60840 [Direct mapping]
Voltage-dependent L-type calcium channel subunit alpha-1F
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Calcium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0005216 [ion channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0007601 [visual perception]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0043029 [T cell homeostasis]
GO:0046872 [metal ion binding]
GO:0050856 [regulation of T cell receptor signaling pathway]
GO:0050908 [detection of light stimulus involved in visual perception]
GO:0055085 [transmembrane transport]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 1912 aa
214 kDa 		No >9
CACNA1F-005
ENSP00000418961
ENST00000486943
H7C549 [Direct mapping]
Voltage-dependent L-type calcium channel subunit alpha-1F
Show all
Predicted intracellular proteins
Show all
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006816 [calcium ion transport]
GO:0007601 [visual perception]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0034220 [ion transmembrane transport]
GO:0043029 [T cell homeostasis]
GO:0050856 [regulation of T cell receptor signaling pathway]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 116 aa
13.2 kDa 		No 0
CACNA1F-007
ENSP00000365441
ENST00000376265
O60840 [Direct mapping]
Voltage-dependent L-type calcium channel subunit alpha-1F
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Calcium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Show all
GO:0005216 [ion channel activity]
GO:0005245 [voltage-gated calcium channel activity]
GO:0005886 [plasma membrane]
GO:0005891 [voltage-gated calcium channel complex]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0007409 [axonogenesis]
GO:0007601 [visual perception]
GO:0008331 [high voltage-gated calcium channel activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0034220 [ion transmembrane transport]
GO:0034765 [regulation of ion transmembrane transport]
GO:0043029 [T cell homeostasis]
GO:0046872 [metal ion binding]
GO:0048813 [dendrite morphogenesis]
GO:0050856 [regulation of T cell receptor signaling pathway]
GO:0050908 [detection of light stimulus involved in visual perception]
GO:0055085 [transmembrane transport]
GO:0060041 [retina development in camera-type eye]
GO:0070509 [calcium ion import]
GO:0070588 [calcium ion transmembrane transport]
GO:0086010 [membrane depolarization during action potential]
Show all
 1977 aa
220.7 kDa 		No >9

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.