Seroatlas · Human Serome Atlas

CACNA1F

Voltage-dependent L-type calcium channel subunit alpha-1F

Also known as: AIED, CAC1F_HUMAN, Cav1.4, CORDX3, CSNB2, CSNB2A, CSNBX2, JM8, JMC8, OA2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O60840
Gene: CACNA1F
Ensembl: ENSG00000102001
Chromosome: X
Canonical length: 1977 aa
Protein class: Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1977 residues, UniProt reviewed canonical sequence.

>O60840|CACNA1F
     1  MSESEGGKDT TPEPSPANGA GPGPEWGLCP GPPAVEGESS GASGLGTPKR RNQHSKHKTV
    61  AVASAQRSPR ALFCLTLANP LRRSCISIVE WKPFDILILL TIFANCVALG VYIPFPEDDS
   121  NTANHNLEQV EYVFLVIFTV ETVLKIVAYG LVLHPSAYIR NGWNLLDFII VVVGLFSVLL
   181  EQGPGRPGDA PHTGGKPGGF DVKALRAFRV LRPLRLVSGV PSLHIVLNSI MKALVPLLHI
   241  ALLVLFVIII YAIIGLELFL GRMHKTCYFL GSDMEAEEDP SPCASSGSGR ACTLNQTECR
   301  GRWPGPNGGI TNFDNFFFAM LTVFQCVTME GWTDVLYWMQ DAMGYELPWV YFVSLVIFGS
   361  FFVLNLVLGV LSGEFSKERE KAKARGDFQK QREKQQMEED LRGYLDWITQ AEELDMEDPS
   421  ADDNLGSMAE EGRAGHRPQL AELTNRRRGR LRWFSHSTRS THSTSSHASL PASDTGSMTE
   481  TQGDEDEEEG ALASCTRCLN KIMKTRVCRR LRRANRVLRA RCRRAVKSNA CYWAVLLLVF
   541  LNTLTIASEH HGQPVWLTQI QEYANKVLLC LFTVEMLLKL YGLGPSAYVS SFFNRFDCFV
   601  VCGGILETTL VEVGAMQPLG ISVLRCVRLL RIFKVTRHWA SLSNLVASLL NSMKSIASLL
   661  LLLFLFIIIF SLLGMQLFGG KFNFDQTHTK RSTFDTFPQA LLTVFQILTG EDWNVVMYDG
   721  IMAYGGPFFP GMLVCIYFII LFICGNYILL NVFLAIAVDN LASGDAGTAK DKGGEKSNEK
   781  DLPQENEGLV PGVEKEEEEG ARREGADMEE EEEEEEEEEE EEEEEGAGGV ELLQEVVPKE
   841  KVVPIPEGSA FFCLSQTNPL RKGCHTLIHH HVFTNLILVF IILSSVSLAA EDPIRAHSFR
   901  NHILGYFDYA FTSIFTVEIL LKMTVFGAFL HRGSFCRSWF NMLDLLVVSV SLISFGIHSS
   961  AISVVKILRV LRVLRPLRAI NRAKGLKHVV QCVFVAIRTI GNIMIVTTLL QFMFACIGVQ
  1021  LFKGKFYTCT DEAKHTPQEC KGSFLVYPDG DVSRPLVRER LWVNSDFNFD NVLSAMMALF
  1081  TVSTFEGWPA LLYKAIDAYA EDHGPIYNYR VEISVFFIVY IIIIAFFMMN IFVGFVIITF
  1141  RAQGEQEYQN CELDKNQRQC VEYALKAQPL RRYIPKNPHQ YRVWATVNSA AFEYLMFLLI
  1201  LLNTVALAMQ HYEQTAPFNY AMDILNMVFT GLFTIEMVLK IIAFKPKHYF TDAWNTFDAL
  1261  IVVGSIVDIA VTEVNNGGHL GESSEDSSRI SITFFRLFRV MRLVKLLSKG EGIRTLLWTF
  1321  IKSFQALPYV ALLIAMIFFI YAVIGMQMFG KVALQDGTQI NRNNNFQTFP QAVLLLFRCA
  1381  TGEAWQEIML ASLPGNRCDP ESDFGPGEEF TCGSNFAIAY FISFFMLCAF LIINLFVAVI
  1441  MDNFDYLTRD WSILGPHHLD EFKRIWSEYD PGAKGRIKHL DVVALLRRIQ PPLGFGKLCP
  1501  HRVACKRLVA MNMPLNSDGT VTFNATLFAL VRTSLKIKTE GNLEQANQEL RIVIKKIWKR
  1561  MKQKLLDEVI PPPDEEEVTV GKFYATFLIQ DYFRKFRRRK EKGLLGNDAA PSTSSALQAG
  1621  LRSLQDLGPE MRQALTCDTE EEEEEGQEGV EEEDEKDLET NKATMVSQPS ARRGSGISVS
  1681  LPVGDRLPDS LSFGPSDDDR GTPTSSQPSV PQAGSNTHRR GSGALIFTIP EEGNSQPKGT
  1741  KGQNKQDEDE EVPDRLSYLD EQAGTPPCSV LLPPHRAQRY MDGHLVPRRR LLPPTPAGRK
  1801  PSFTIQCLQR QGSCEDLPIP GTYHRGRNSG PNRAQGSWAT PPQRGRLLYA PLLLVEEGAA
  1861  GEGYLGRSSG PLRTFTCLHV PGTHSDPSHG KRGSADSLVE AVLISEGLGL FARDPRFVAL
  1921  AKQEIADACR LTLDEMDNAA SDLLAQGTSS LYSDEESILS RFDEEDLGDE MACVHAL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CACNA1F can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Unknown
Secreted: No
Transmembrane segments: 24
Mean surface accessibility (rSASA): 0.39
Highest tissue expression: 116 nTPM

Expression across tissuesHPA

Tissue

retina: 116 nTPM
cerebellum: 1.9 nTPM
bone marrow: 1.7 nTPM
small intestine: 1.5 nTPM
choroid plexus: 1.2 nTPM
lymph node: 1.2 nTPM

Single-cell type

rod photoreceptor cells: 217 nCPM
retinal bipolar cells: 176 nCPM
cone photoreceptor cells: 130 nCPM
retinal ganglion cells: 27 nCPM
goblet cells: 7 nCPM
epididymal principal cells: 6.5 nCPM

Immune cell

plasmacytoid DC: 1.3 nTPM
neutrophil: 0.5 nTPM
naive B-cell: 0.4 nTPM
basophil: 0.3 nTPM
non-classical monocyte: 0.3 nTPM
classical monocyte: 0.2 nTPM

Brain region

cerebellum: 8 nTPM
cerebral cortex: 5.9 nTPM
choroid plexus: 5 nTPM
amygdala: 4.7 nTPM
white matter: 4.6 nTPM
basal ganglia: 4.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CACNA1F.

Disease | AllUniProt

Conditions CACNA1F is implicated in, by any mechanism.

Night blindness, congenital stationary, 2A (CSNB2A) MIM:300071
Cone-rod dystrophy, X-linked 3 (CORDX3) MIM:300476
Aaland island eye disease (AIED) MIM:300600

Disease | GeneticClinVar

195 pathogenic / likely-pathogenic of 1,540 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Congenital stationary night blindness 2A
Congenital stationary night blindness
Retinal dystrophy
X-linked cone-rod dystrophy 3
Aland island eye disease

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.45
gnomAD pLI: 0
gnomAD missense Z: 2.6
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CACNA1F in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CABP4

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CACNA1F as an antibody target. Whether an autoantibody or antibody against CACNA1F could matter depends on whether native CACNA1F is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CACNA1F is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CACNA1F as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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