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1.A.1.11.11
The Cav1.4 L-type Ca2+ channel (gene CACNA1F). Mutations resulting in increased activity cause x-linked incomplete congenital stationary night blindness (CSNB2) (Hemara-Wahanui et al., 2005; Peloquin et al., 2007).  Aland Island eye disease (AIED), also known as Forsius-Eriksson syndrome, is an X-linked recessive retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect, progressive myopia, and defective dark adaptation. Since the clinical picture of AIED is quite similar to CSNB2, these disorders are allelic or form a single entity. Thus, AIED is also caused by CACNA1F gene mutations (Jalkanen et al. 2007). Cav1.4 calcium channels play roles in the pathophysiology of psoriasis (Pelletier and Savignac 2022). Cav1.4 L-type calcium channels are predominantly expressed at the photoreceptor terminals and in bipolar cells, mediating neurotransmitter release. Mutations in its gene, CACNA1F, can cause congenital stationary night-blindness type 2 (CSNB2). Water wires in both, resting and active channel states have been proposed (Heigl et al. 2023). 

Accession Number:O60840
Protein Name:Voltage-dependent L-type calcium channel subunit alpha-1F
Length:1977
Molecular Weight:220678.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:18
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate calcium(2+)

Cross database links:

RefSeq: NP_005174.2   
Entrez Gene ID: 778   
Pfam: PF08763    PF00520   
OMIM: 300071  phenotype
300110  gene
300476  phenotype
300600  phenotype
KEGG: hsa:778   

Gene Ontology

GO:0005891 C:voltage-gated calcium channel complex
GO:0015270 F:dihydropyridine-sensitive calcium channel a...
GO:0005515 F:protein binding
GO:0006816 P:calcium ion transport
GO:0050908 P:detection of light stimulus involved in vis...
GO:0055085 P:transmembrane transport

References (11)

[1] “An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.”  Strom T.M.et.al.   9662399
[2] “Isolation and characterization of a calcium channel gene, cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.”  Naylor M.J.et.al.   10873387
[3] “The DNA sequence of the human X chromosome.”  Ross M.T.et.al.   15772651
[4] “Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.”  Fisher S.E.et.al.   9344658
[5] “A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.”  Boycott K.M.et.al.   11281458
[6] “Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.”  Wutz K.et.al.   12111638
[7] “Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).”  Weleber R.G.et.al.   12187427
[8] “A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.”  Hemara-Wahanui A.et.al.   15897456
[9] “Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.”  Zeitz C.et.al.   16960802
[10] “X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.”  Jalkanen R.et.al.   16505158
[11] “A novel CACNA1F gene mutation causes Aland Island eye disease.”  Jalkanen R.et.al.   17525176

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence 
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