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O00305

- CACB4_HUMAN

UniProt

O00305 - CACB4_HUMAN

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Protein

Voltage-dependent L-type calcium channel subunit beta-4

Gene

CACNB4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.

GO - Molecular functioni

  1. voltage-gated calcium channel activity Source: Ensembl

GO - Biological processi

  1. adult walking behavior Source: Ensembl
  2. axon guidance Source: Reactome
  3. calcium ion transmembrane transport Source: GOC
  4. cAMP metabolic process Source: Ensembl
  5. cellular calcium ion homeostasis Source: Ensembl
  6. detection of light stimulus involved in visual perception Source: Ensembl
  7. gamma-aminobutyric acid secretion Source: Ensembl
  8. gamma-aminobutyric acid signaling pathway Source: Ensembl
  9. membrane depolarization Source: Reactome
  10. muscle fiber development Source: Ensembl
  11. neuromuscular junction development Source: Ensembl
  12. neuronal action potential propagation Source: Ensembl
  13. Peyer's patch development Source: Ensembl
  14. regulation of voltage-gated calcium channel activity Source: UniProtKB
  15. spleen development Source: Ensembl
  16. synaptic transmission Source: Reactome
  17. synaptic transmission, glutamatergic Source: Ensembl
  18. T cell receptor signaling pathway Source: Ensembl
  19. thymus development Source: Ensembl
  20. transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Calcium channel, Ion channel, Voltage-gated channel

Keywords - Biological processi

Calcium transport, Ion transport, Transport

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiREACT_13606. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.
REACT_18312. NCAM1 interactions.

Protein family/group databases

TCDBi8.A.22.1.4. the ca(2+) channel auxiliary subunit types 1-4 (cca-) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Voltage-dependent L-type calcium channel subunit beta-4
Short name:
CAB4
Alternative name(s):
Calcium channel voltage-dependent subunit beta 4
Gene namesi
Name:CACNB4
Synonyms:CACNLB4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:1404. CACNB4.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasmic side of plasma membrane Source: UniProtKB
  2. cytosol Source: Reactome
  3. plasma membrane Source: UniProtKB
  4. synapse Source: UniProtKB
  5. voltage-gated calcium channel complex Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Epilepsy, idiopathic generalized 9 (EIG9) [MIM:607682]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti104 – 1041C → F in EA5; associated with susceptibility to EIG9. 1 Publication
Corresponds to variant rs1805031 [ dbSNP | Ensembl ].
VAR_013669
Juvenile myoclonic epilepsy 6 (EJM6) [MIM:607682]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Episodic ataxia 5 (EA5) [MIM:613855]: A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti104 – 1041C → F in EA5; associated with susceptibility to EIG9. 1 Publication
Corresponds to variant rs1805031 [ dbSNP | Ensembl ].
VAR_013669

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi607682. phenotype.
613855. phenotype.
Orphaneti211067. Episodic ataxia type 5.
307. Juvenile myoclonic epilepsy.
PharmGKBiPA26014.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 520520Voltage-dependent L-type calcium channel subunit beta-4PRO_0000144060Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei411 – 4111PhosphothreonineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO00305.
PRIDEiO00305.

PTM databases

PhosphoSiteiO00305.

Expressioni

Tissue specificityi

Expressed predominantly in the cerebellum and kidney.

Gene expression databases

BgeeiO00305.
CleanExiHS_CACNB4.
ExpressionAtlasiO00305. baseline and differential.
GenevestigatoriO00305.

Organism-specific databases

HPAiHPA015601.

Interactioni

Subunit structurei

The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with FASLG.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
SYT1P215792EBI-714855,EBI-524909

Protein-protein interaction databases

BioGridi107239. 6 interactions.
IntActiO00305. 7 interactions.
MINTiMINT-1418672.
STRINGi9606.ENSP00000343563.

Structurei

Secondary structure

1
520
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi51 – 544Combined sources
Beta strandi57 – 593Combined sources
Helixi66 – 683Combined sources
Turni71 – 733Combined sources
Helixi74 – 8815Combined sources

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1VYVX-ray3.00A/B254-408[»]
2D46NMR-A50-92[»]
ProteinModelPortaliO00305.
SMRiO00305. Positions 50-403.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO00305.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini118 – 15336SH3PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiNOG326500.
GeneTreeiENSGT00390000002740.
HOGENOMiHOG000230979.
HOVERGENiHBG050765.
InParanoidiO00305.
KOiK04865.
OMAiSYAKNGT.
OrthoDBiEOG7966G4.
PhylomeDBiO00305.
TreeFamiTF316195.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR008145. GK/Ca_channel_bsu.
IPR027417. P-loop_NTPase.
IPR001452. SH3_domain.
IPR000584. VDCC_L_bsu.
[Graphical view]
PANTHERiPTHR11824. PTHR11824. 1 hit.
PfamiPF00625. Guanylate_kin. 1 hit.
PF12052. VGCC_beta4Aa_N. 1 hit.
[Graphical view]
PRINTSiPR01626. LCACHANNELB.
SMARTiSM00072. GuKc. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O00305-1) [UniParc]FASTAAdd to Basket

Also known as: 4b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSSSSYAKNG TADGPHSPTS QVARGTTTRR SRLKRSDGST TSTSFILRQG
60 70 80 90 100
SADSYTSRPS DSDVSLEEDR EAIRQEREQQ AAIQLERAKS KPVAFAVKTN
110 120 130 140 150
VSYCGALDED VPVPSTAISF DAKDFLHIKE KYNNDWWIGR LVKEGCEIGF
160 170 180 190 200
IPSPLRLENI RIQQEQKRGR FHGGKSSGNS SSSLGEMVSG TFRATPTSTA
210 220 230 240 250
KQKQKVTEHI PPYDVVPSMR PVVLVGPSLK GYEVTDMMQK ALFDFLKHRF
260 270 280 290 300
DGRISITRVT ADISLAKRSV LNNPSKRAII ERSNTRSSLA EVQSEIERIF
310 320 330 340 350
ELARSLQLVV LDADTINHPA QLIKTSLAPI IVHVKVSSPK VLQRLIKSRG
360 370 380 390 400
KSQSKHLNVQ LVAADKLAQC PPEMFDVILD ENQLEDACEH LGEYLEAYWR
410 420 430 440 450
ATHTTSSTPM TPLLGRNLGS TALSPYPTAI SGLQSQRMRH SNHSTENSPI
460 470 480 490 500
ERRSLMTSDE NYHNERARKS RNRLSSSSQH SRDHYPLVEE DYPDSYQDTY
510 520
KPHRNRGSPG GYSHDSRHRL
Length:520
Mass (Da):58,169
Last modified:February 6, 2007 - v2
Checksum:i21025FA9782347FA
GO
Isoform 2 (identifier: O00305-2) [UniParc]FASTAAdd to Basket

Also known as: 4a

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQ → MYDNLYLHGIEDSEA

Show »
Length:486
Mass (Da):54,707
Checksum:i5E8F03EA98A88597
GO
Isoform 3 (identifier: O00305-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MSSSSYAKNGTADGPHSPTSQ → MDV

Note: No experimental confirmation available.

Show »
Length:502
Mass (Da):56,422
Checksum:i24BA6BA3A89A46BB
GO
Isoform 4 (identifier: O00305-4) [UniParc]FASTAAdd to Basket

Also known as: 4d

The sequence of this isoform differs from the canonical sequence as follows:
     373-434: Missing.

Note: Unable to interact with the alpha-1 subunit.

Show »
Length:458
Mass (Da):51,331
Checksum:i4AC560044A3BA110
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti245 – 2451F → S in AAB53333. (PubMed:9254841)Curated
Sequence conflicti245 – 2451F → S in AAL14351. (PubMed:11880487)Curated
Sequence conflicti311 – 3111L → V in AAL14351. (PubMed:11880487)Curated
Sequence conflicti441 – 4411S → T in AAL14351. (PubMed:11880487)Curated
Isoform 2 (identifier: O00305-2)
Sequence conflicti12 – 121D → N in AAL14351. (PubMed:11880487)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti104 – 1041C → F in EA5; associated with susceptibility to EIG9. 1 Publication
Corresponds to variant rs1805031 [ dbSNP | Ensembl ].
VAR_013669

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4949MSSSS…FILRQ → MYDNLYLHGIEDSEA in isoform 2. 2 PublicationsVSP_000635Add
BLAST
Alternative sequencei1 – 2121MSSSS…SPTSQ → MDV in isoform 3. 1 PublicationVSP_043192Add
BLAST
Alternative sequencei373 – 43462Missing in isoform 4. 1 PublicationVSP_043193Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U95020 mRNA. Translation: AAB53333.1.
AY054985 mRNA. Translation: AAL14351.1.
AB302276 mRNA. Translation: BAF73808.1.
AK290049 mRNA. Translation: BAF82738.1.
AK294398 mRNA. Translation: BAG57651.1.
AK316045 mRNA. Translation: BAH14416.1.
AC068547 Genomic DNA. No translation available.
AC079790 Genomic DNA. No translation available.
AC097448 Genomic DNA. No translation available.
CH471058 Genomic DNA. Translation: EAX11494.1.
BC075049 mRNA. Translation: AAH75049.1.
AF038852 mRNA. Translation: AAC24206.1.
CCDSiCCDS46426.1. [O00305-1]
CCDS46427.1. [O00305-3]
CCDS46428.1. [O00305-2]
CCDS54409.1. [O00305-4]
RefSeqiNP_000717.2. NM_000726.3. [O00305-1]
NP_001005746.1. NM_001005746.2. [O00305-3]
NP_001005747.1. NM_001005747.2. [O00305-2]
NP_001139270.1. NM_001145798.1. [O00305-4]
UniGeneiHs.120725.

Genome annotation databases

EnsembliENST00000201943; ENSP00000201943; ENSG00000182389. [O00305-4]
ENST00000427385; ENSP00000410978; ENSG00000182389. [O00305-3]
ENST00000534999; ENSP00000443893; ENSG00000182389. [O00305-2]
ENST00000539935; ENSP00000438949; ENSG00000182389. [O00305-1]
GeneIDi785.
KEGGihsa:785.
UCSCiuc002txy.3. human. [O00305-2]
uc002txz.3. human. [O00305-3]
uc002tya.3. human. [O00305-1]
uc010fnz.3. human. [O00305-4]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U95020 mRNA. Translation: AAB53333.1 .
AY054985 mRNA. Translation: AAL14351.1 .
AB302276 mRNA. Translation: BAF73808.1 .
AK290049 mRNA. Translation: BAF82738.1 .
AK294398 mRNA. Translation: BAG57651.1 .
AK316045 mRNA. Translation: BAH14416.1 .
AC068547 Genomic DNA. No translation available.
AC079790 Genomic DNA. No translation available.
AC097448 Genomic DNA. No translation available.
CH471058 Genomic DNA. Translation: EAX11494.1 .
BC075049 mRNA. Translation: AAH75049.1 .
AF038852 mRNA. Translation: AAC24206.1 .
CCDSi CCDS46426.1. [O00305-1 ]
CCDS46427.1. [O00305-3 ]
CCDS46428.1. [O00305-2 ]
CCDS54409.1. [O00305-4 ]
RefSeqi NP_000717.2. NM_000726.3. [O00305-1 ]
NP_001005746.1. NM_001005746.2. [O00305-3 ]
NP_001005747.1. NM_001005747.2. [O00305-2 ]
NP_001139270.1. NM_001145798.1. [O00305-4 ]
UniGenei Hs.120725.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1VYV X-ray 3.00 A/B 254-408 [» ]
2D46 NMR - A 50-92 [» ]
ProteinModelPortali O00305.
SMRi O00305. Positions 50-403.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107239. 6 interactions.
IntActi O00305. 7 interactions.
MINTi MINT-1418672.
STRINGi 9606.ENSP00000343563.

Chemistry

ChEMBLi CHEMBL2363032.
DrugBanki DB04855. Dronedarone.
DB00393. Nimodipine.
DB00421. Spironolactone.
DB00661. Verapamil.

Protein family/group databases

TCDBi 8.A.22.1.4. the ca(2+) channel auxiliary subunit types 1-4 (cca-) family.

PTM databases

PhosphoSitei O00305.

Proteomic databases

PaxDbi O00305.
PRIDEi O00305.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000201943 ; ENSP00000201943 ; ENSG00000182389 . [O00305-4 ]
ENST00000427385 ; ENSP00000410978 ; ENSG00000182389 . [O00305-3 ]
ENST00000534999 ; ENSP00000443893 ; ENSG00000182389 . [O00305-2 ]
ENST00000539935 ; ENSP00000438949 ; ENSG00000182389 . [O00305-1 ]
GeneIDi 785.
KEGGi hsa:785.
UCSCi uc002txy.3. human. [O00305-2 ]
uc002txz.3. human. [O00305-3 ]
uc002tya.3. human. [O00305-1 ]
uc010fnz.3. human. [O00305-4 ]

Organism-specific databases

CTDi 785.
GeneCardsi GC02M152689.
HGNCi HGNC:1404. CACNB4.
HPAi HPA015601.
MIMi 601949. gene.
607682. phenotype.
613855. phenotype.
neXtProti NX_O00305.
Orphaneti 211067. Episodic ataxia type 5.
307. Juvenile myoclonic epilepsy.
PharmGKBi PA26014.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG326500.
GeneTreei ENSGT00390000002740.
HOGENOMi HOG000230979.
HOVERGENi HBG050765.
InParanoidi O00305.
KOi K04865.
OMAi SYAKNGT.
OrthoDBi EOG7966G4.
PhylomeDBi O00305.
TreeFami TF316195.

Enzyme and pathway databases

Reactomei REACT_13606. Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels.
REACT_18312. NCAM1 interactions.

Miscellaneous databases

ChiTaRSi CACNB4. human.
EvolutionaryTracei O00305.
GeneWikii CACNB4.
GenomeRNAii 785.
NextBioi 3194.
PROi O00305.
SOURCEi Search...

Gene expression databases

Bgeei O00305.
CleanExi HS_CACNB4.
ExpressionAtlasi O00305. baseline and differential.
Genevestigatori O00305.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR008145. GK/Ca_channel_bsu.
IPR027417. P-loop_NTPase.
IPR001452. SH3_domain.
IPR000584. VDCC_L_bsu.
[Graphical view ]
PANTHERi PTHR11824. PTHR11824. 1 hit.
Pfami PF00625. Guanylate_kin. 1 hit.
PF12052. VGCC_beta4Aa_N. 1 hit.
[Graphical view ]
PRINTSi PR01626. LCACHANNELB.
SMARTi SM00072. GuKc. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEi PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23."
    Taviaux S., Williams M.E., Harpold M.M., Nargeot J., Lory P.
    Hum. Genet. 100:151-154(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. "Alternative splicing of the beta 4 subunit has alpha 1 subunit subtype-specific effects on Ca2+ channel gating."
    Helton T.D., Horne W.A.
    J. Neurosci. 22:1573-1582(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
    Tissue: Spinal cord.
  3. "The GK domain of the voltage-dependent calcium channel beta subunit is essential for binding to the alpha subunit."
    Kobayashi T., Yamada Y., Fukao M., Shiratori K., Tsutsuura M., Tanimoto K., Tohse N.
    Biochem. Biophys. Res. Commun. 360:679-683(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
    Tissue: Brain.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
    Tissue: Amygdala and Hippocampus.
  5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  8. "Calcium channel beta4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic."
    Escayg A., Jones J.M., Kearney J.A., Hitchcock P.F., Meisler M.H.
    Genomics 50:14-22(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-520 (ISOFORM 1).
  9. "Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia."
    Escayg A., De Waard M., Lee D.D., Bichet D., Wolf P., Mayer T., Johnston J., Baloh R., Sander T., Meisler M.H.
    Am. J. Hum. Genet. 66:1531-1539(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN EJM6 AND EIG9, VARIANT EA5 PHE-104.
  10. "Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening."
    Voss M., Lettau M., Janssen O.
    BMC Immunol. 10:53-53(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH FASLG.

Entry informationi

Entry nameiCACB4_HUMAN
AccessioniPrimary (citable) accession number: O00305
Secondary accession number(s): A7BJ74
, A8K1Y4, B4DG40, O60515, Q6B000, Q96L40
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: February 6, 2007
Last modified: October 29, 2014
This is version 156 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3