Details for: CACNB1

Gene ID: 782

Symbol: CACNB1

Ensembl ID: ENSG00000067191

Description: calcium voltage-gated channel auxiliary subunit beta 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 62.3613
    Cell Significance Index: -9.7000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 37.9273
    Cell Significance Index: -9.6200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 18.9289
    Cell Significance Index: -7.6900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 7.8592
    Cell Significance Index: -9.6900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.4607
    Cell Significance Index: -9.7100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 2.2021
    Cell Significance Index: 53.7300
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 2.1608
    Cell Significance Index: 34.8700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.6413
    Cell Significance Index: 42.1900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.8231
    Cell Significance Index: 23.4900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.7442
    Cell Significance Index: 149.2800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.5033
    Cell Significance Index: 11.0200
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.4528
    Cell Significance Index: 5.2200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3427
    Cell Significance Index: 15.1600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.3293
    Cell Significance Index: 12.4700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3152
    Cell Significance Index: 113.0700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2638
    Cell Significance Index: 26.1000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.2625
    Cell Significance Index: 17.6500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2515
    Cell Significance Index: 227.1200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2454
    Cell Significance Index: 46.7000
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.2046
    Cell Significance Index: 2.8700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1936
    Cell Significance Index: 11.9000
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.1297
    Cell Significance Index: 1.7300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1102
    Cell Significance Index: 76.2400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0905
    Cell Significance Index: 2.1700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0404
    Cell Significance Index: 1.8300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0398
    Cell Significance Index: 2.0900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0366
    Cell Significance Index: 6.6000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0278
    Cell Significance Index: 4.0400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0248
    Cell Significance Index: 0.8700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0222
    Cell Significance Index: 0.6400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0186
    Cell Significance Index: 2.0200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0171
    Cell Significance Index: 1.9900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0133
    Cell Significance Index: 20.4800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0126
    Cell Significance Index: 6.8900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0123
    Cell Significance Index: 1.5800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0119
    Cell Significance Index: 22.4400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0112
    Cell Significance Index: 0.5800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0096
    Cell Significance Index: 4.2600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0068
    Cell Significance Index: 1.1000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0058
    Cell Significance Index: 10.7400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0056
    Cell Significance Index: 0.7700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0045
    Cell Significance Index: 2.8500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0022
    Cell Significance Index: 3.0400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0019
    Cell Significance Index: -1.4500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0037
    Cell Significance Index: -0.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0072
    Cell Significance Index: -0.1800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0108
    Cell Significance Index: -2.1400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0113
    Cell Significance Index: -8.3000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0131
    Cell Significance Index: -9.7000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0132
    Cell Significance Index: -6.0000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0167
    Cell Significance Index: -10.4400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0170
    Cell Significance Index: -2.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0179
    Cell Significance Index: -10.0800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0194
    Cell Significance Index: -0.4200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0255
    Cell Significance Index: -7.3400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0285
    Cell Significance Index: -1.7500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0398
    Cell Significance Index: -2.5100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0461
    Cell Significance Index: -0.7900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0467
    Cell Significance Index: -1.3400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0471
    Cell Significance Index: -8.0500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0485
    Cell Significance Index: -0.6900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0497
    Cell Significance Index: -1.3900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0511
    Cell Significance Index: -10.7600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0591
    Cell Significance Index: -7.6400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0629
    Cell Significance Index: -6.4300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0638
    Cell Significance Index: -0.8700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0654
    Cell Significance Index: -7.7200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0687
    Cell Significance Index: -4.4300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0696
    Cell Significance Index: -7.9700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0735
    Cell Significance Index: -1.2700
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.0751
    Cell Significance Index: -1.0500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0766
    Cell Significance Index: -3.5700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0770
    Cell Significance Index: -5.3300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0854
    Cell Significance Index: -4.7900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0862
    Cell Significance Index: -8.9800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0871
    Cell Significance Index: -2.2900
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0909
    Cell Significance Index: -1.1900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0953
    Cell Significance Index: -7.3100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0961
    Cell Significance Index: -3.0600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1002
    Cell Significance Index: -3.2800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1012
    Cell Significance Index: -2.1000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1034
    Cell Significance Index: -7.3100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1064
    Cell Significance Index: -5.0000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1108
    Cell Significance Index: -5.7700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1118
    Cell Significance Index: -8.3300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1159
    Cell Significance Index: -2.4600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1194
    Cell Significance Index: -2.3600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1261
    Cell Significance Index: -4.0400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1290
    Cell Significance Index: -1.9300
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1393
    Cell Significance Index: -2.2400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1403
    Cell Significance Index: -3.8200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1463
    Cell Significance Index: -1.8200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1533
    Cell Significance Index: -2.5700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1571
    Cell Significance Index: -3.3500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1616
    Cell Significance Index: -5.6600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1643
    Cell Significance Index: -5.7100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1686
    Cell Significance Index: -3.2900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1694
    Cell Significance Index: -3.4000
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: -0.1719
    Cell Significance Index: -1.9100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1810
    Cell Significance Index: -3.9100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Auxiliary Subunit:** CACNB1 is an auxiliary subunit of the voltage-gated calcium channel, which is essential for regulating calcium ion flow across the plasma membrane. 2. **Widespread Expression:** CACNB1 is expressed in various cell types, including skeletal muscle, neurons, and immune cells, highlighting its critical role in multiple physiological processes. 3. **Calcium Signaling:** The gene is involved in regulating calcium ion transmembrane transport, which is essential for muscle contraction, neuronal development, and synaptic transmission. 4. **High Voltage-Gated Calcium Channel Complex:** CACNB1 interacts with other subunits to form the high voltage-gated calcium channel complex, which is crucial for regulating calcium ion flow. **Pathways and Functions:** 1. **Calcium Ion Transmembrane Transport:** CACNB1 regulates calcium ion transmembrane transport via high voltage-gated calcium channels, influencing muscle contraction, neuronal development, and synaptic transmission. 2. **Neuronal Development:** The gene is involved in neuronal development, particularly in the formation of axons and the regulation of neuronal growth. 3. **Muscle Contraction:** CACNB1 plays a crucial role in regulating muscle contraction by controlling calcium ion flow across the plasma membrane. 4. **Synaptic Transmission:** The gene is essential for regulating synaptic transmission, which is critical for neuronal communication and learning. 5. **Immune Regulation:** CACNB1 is expressed in immune cells, suggesting its involvement in immune regulation and the modulation of immune responses. **Clinical Significance:** 1. **Muscle Diseases:** Mutations in the CACNB1 gene have been associated with muscle diseases, such as congenital myasthenic syndrome and Lambert-Eaton myasthenic syndrome. 2. **Neurological Disorders:** The gene's involvement in neuronal development and synaptic transmission makes it a potential target for the treatment of neurological disorders, such as Alzheimer's disease and Parkinson's disease. 3. **Immune-Mediated Diseases:** CACNB1's expression in immune cells suggests its potential role in immune-mediated diseases, such as multiple sclerosis and rheumatoid arthritis. 4. **Cancer:** The gene's involvement in calcium signaling pathways makes it a potential target for the treatment of cancer, particularly in the regulation of cell proliferation and apoptosis. In conclusion, the CACNB1 gene plays a critical role in regulating calcium signaling pathways, influencing various cellular processes, including muscle contraction, neuronal development, and synaptic transmission. Its widespread expression across different cell types highlights its importance in immune regulation, neuronal function, and overall physiological homeostasis. Further research is necessary to fully elucidate the gene's role in human disease and to explore its potential as a therapeutic target.

Genular Protein ID: 2081854782

Symbol: CACB1_HUMAN

Name: Voltage-dependent L-type calcium channel subunit beta-1

UniProtKB Accession Codes:

Q02641 A8K114 O15331 Q02639 Q02640 Q8N3X9 Q9C085 Q9UD79

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CTD 1 ChEMBL 3 ChiTaRS 1 ComplexPortal 8 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 34 EMBL 41 EMDB 6 Ensembl 3 ExpressionAtlas 1 GO 13 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 8 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 4 RefSeq 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1385409

Title: Skeletal muscle and brain isoforms of a beta-subunit of human voltage-dependent calcium channels are encoded by a single gene.

PubMed ID: 1385409

DOI: 10.1016/s0021-9258(18)50042-9

PubMed ID: 1309651

Title: Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype.

PubMed ID: 1309651

DOI: 10.1016/0896-6273(92)90109-q

PubMed ID: 7916667

Title: Molecular cloning of three isoforms of the L-type voltage-dependent calcium channel beta subunit from normal human heart.

PubMed ID: 7916667

DOI: 10.1161/01.res.72.6.1337

PubMed ID: 8905728

Title: Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes.

PubMed ID: 8905728

DOI: 10.1016/0304-3940(96)13055-x

PubMed ID: 10624822

Title: Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels.

PubMed ID: 10624822

DOI: 10.1016/s0304-3940(99)00851-4

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8395940

Title: Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility.

PubMed ID: 8395940

DOI: 10.1093/hmg/2.7.863

PubMed ID: 8107964

Title: Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly.

PubMed ID: 8107964

DOI: 10.1016/0028-3908(93)90004-m

PubMed ID: 15615847

Title: Unique modulation of L-type Ca2+ channels by short auxiliary beta1d subunit present in cardiac muscle.

PubMed ID: 15615847

DOI: 10.1152/ajpheart.00348.2004

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 598
  • Mass: 65714
  • Checksum: 44FE4E3BA6F016FD
  • Sequence:
    • MVQKTSMSRG PYPPSQEIPM EVFDPSPQGK YSKRKGRFKR SDGSTSSDTT SNSFVRQGSA 
ESYTSRPSDS DVSLEEDREA LRKEAERQAL AQLEKAKTKP VAFAVRTNVG YNPSPGDEVP 
VQGVAITFEP KDFLHIKEKY NNDWWIGRLV KEGCEVGFIP SPVKLDSLRL LQEQKLRQNR 
LGSSKSGDNS SSSLGDVVTG TRRPTPPASA KQKQKSTEHV PPYDVVPSMR PIILVGPSLK 
GYEVTDMMQK ALFDFLKHRF DGRISITRVT ADISLAKRSV LNNPSKHIII ERSNTRSSLA 
EVQSEIERIF ELARTLQLVA LDADTINHPA QLSKTSLAPI IVYIKITSPK VLQRLIKSRG 
KSQSKHLNVQ IAASEKLAQC PPEMFDIILD ENQLEDACEH LAEYLEAYWK ATHPPSSTPP 
NPLLNRTMAT AALAASPAPV SNLQGPYLAS GDQPLERATG EHASMHEYPG ELGQPPGLYP 
SSHPPGRAGT LRALSRQDTF DADTPGSRNS AYTELGDSCV DMETDPSEGP GLGDPAGGGT 
PPARQGSWED EEEDYEEELT DNRNRGRNKA RYCAEGGGPV LGRNKNELEG WGRGVYIR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.