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ITPR1

  • ITPR1
  • Protein-coding gene in the species Homo sapiens

    5-trisphosphate receptor type 1 is a protein that in humans is encoded by the ITPR1 gene. ITPR1 has been shown to interact with: AHCYL1, CA8, EPB41L1 FKBP1A, MRVI1

    ITPR1

    ITPR1

    ITPR1

  • Ataxia
  • Neurological impairment of voluntary muscle movement

    autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII". Journal of Neuroinflammation. 12 (1) 166. doi:10

    Ataxia

    Ataxia

  • Rho family of GTPases
  • Family of small signalling G proteins

    Cnksr1, Diaph1, Diaph2, DgkQ, FlnA, KcnA2, Ktn1, Rtkn1, Rtkn2, Rhpn1, Rhpn2, Itpr1, PlcG1, PI-5-p5K, Pld1, Pkn1, Pkn2, Rock1, Rock2, PrkcA, Ppp1r12A Rac1 Sra1

    Rho family of GTPases

    Rho_family_of_GTPases

  • Paraneoplastic cerebellar degeneration
  • Medical condition

    autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII 2015; 12, 166 (free) S. Jarius, B. Wildemann: ‘Medusa

    Paraneoplastic cerebellar degeneration

    Paraneoplastic_cerebellar_degeneration

  • Inositol trisphosphate
  • Chemical compound

    pentakisphosphate Inositol hexaphosphate Inositol trisphosphate receptor ITPR1 ITPKC CID 439456 from PubChem Bosanac, Ivan; Michikawa, Takayuki; Mikoshiba

    Inositol trisphosphate

    Inositol_trisphosphate

  • Spinocerebellar ataxia
  • Progressive neurological disease

    any rhythm or pattern, occurring in various brain disorders)   19q SCA16 (ITPR1) 39 yrs (20–66) 1–40 years Head and hand tremor   8q SCA17 (TBP)   CAG repeat

    Spinocerebellar ataxia

    Spinocerebellar ataxia

    Spinocerebellar_ataxia

  • Gillespie syndrome
  • Medical condition

    caused by mutations in the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene. This gene is located on the short arm of chromosome 3 (3p26.1). Mutations

    Gillespie syndrome

    Gillespie syndrome

    Gillespie_syndrome

  • List of genetic disorders
  • SPTBN2, CACNA1A, ATXN7, ATXN8OS, ATXN10, TTBK2, PPP2R2B, KCNC3, PRKCG, ITPR1, TBP, KCND3, FGF14 dominant, recessive or T Split hand split foot-nystagmus

    List of genetic disorders

    List_of_genetic_disorders

  • EPB41L1
  • Protein-coding gene in the species Homo sapiens

    shown to interact with: CENTG1, Dopamine receptor D2, Dopamine receptor D3, ITPR1, and Nuclear mitotic apparatus protein 1. GRCh38: Ensembl release 89: ENSG00000088367

    EPB41L1

    EPB41L1

    EPB41L1

  • Cation channel superfamily
  • Family of ion channel proteins

    SLC9A11 CNGA1; CNGA2; CNGA3; CNGA4 CNGB1; CNGB3 HCN1; HCN2; HCN3; HCN4 ITPR1; ITPR2; ITPR3 HVCN1 TPTE, part of the larger Voltage sensitive phosphatase

    Cation channel superfamily

    Cation channel superfamily

    Cation_channel_superfamily

  • Human accelerated regions
  • Name of some human genes

    HAR24: SKAP2 HAR28: ADGRL4 (latrophilin) HAR31: AUTS2 HAR33: TBC1D22A HAR38: ITPR1 HAR40: ZBTB16 HAR43: AGBL4 HAR44: FHIT HAR45: POLA HAR47: KLHL14 (Kelch-like

    Human accelerated regions

    Human accelerated regions

    Human_accelerated_regions

  • Calcium channel
  • Ion channel complex through which calcium ions pass

    Type Gated by Gene Location Function IP3 receptor IP3 ITPR1, ITPR2, ITPR3 ER/SR Releases calcium from ER/SR in response to IP3 by e.g. GPCRs Ryanodine

    Calcium channel

    Calcium_channel

  • MRVI1
  • Protein-coding gene in the species Homo sapiens

    translation at a non-AUG start site. MRVI1 has been shown to interact with ITPR1 and PRKG1. GRCh38: Ensembl release 89: ENSG00000072952 – Ensembl, May 2017

    MRVI1

    MRVI1

    MRVI1

  • CA8
  • Protein-coding gene in the species Homo sapiens

    important role for this acatalytic form. CA8 has been shown to interact with ITPR1. GRCh38: Ensembl release 89: ENSG00000178538 – Ensembl, May 2017 GRCm38:

    CA8

    CA8

    CA8

  • EGOT (gene)
  • Human gene

    is nested within an intron of the inositol triphosphate receptor type 1 (ITPR1) gene. The EGOT transcript is expressed during eosinophil development and

    EGOT (gene)

    EGOT (gene)

    EGOT_(gene)

  • TRPC4
  • Protein and coding gene in humans

    generalized epilepsy with photosensitivity. TRPC4 has been shown to interact with ITPR1, TRPC1, and TRPC5. TRPC GRCh38: Ensembl release 89: ENSG00000133107 – Ensembl

    TRPC4

    TRPC4

    TRPC4

  • Inositol trisphosphate receptor
  • Class of transport proteins

    domain of type 1 inositol 1,4,5-trisphosphate receptor Identifiers Symbol ITPR1 NCBI gene 3708 HGNC 6180 OMIM 147265 RefSeq NM_002222 UniProt Q14643 Other

    Inositol trisphosphate receptor

    Inositol trisphosphate receptor

    Inositol_trisphosphate_receptor

  • FKBP1A
  • Protein and coding gene in humans

    of which is transcribed. FKBP1A has been shown to interact with: GLMN, ITPR1 KIAA1303, Mammalian target of rapamycin, RYR1, and TGF beta receptor 1.

    FKBP1A

    FKBP1A

    FKBP1A

  • Transforming protein RhoA
  • Protein and coding gene in humans

    ARHGAP5, ARHGDIA, ARHGEF11, ARHGEF12, ARHGEF3, CIT DGKQ, DIAPH1, GEFT, ITPR1, KCNA2, KTN1, MAP3K1, PKN2, PLCG1, Phospholipase D1, Protein kinase N1,

    Transforming protein RhoA

    Transforming protein RhoA

    Transforming_protein_RhoA

  • Ankyrin-2
  • Protein-coding gene in the species Homo sapiens

    required for normal cardioprotection following ischemia reperfusion injury. ITPR1 HDJ1/HSP40 SPTBN1 OBSCN DMD DCTN4 tubulin "Human PubMed Reference:". National

    Ankyrin-2

    Ankyrin-2

    Ankyrin-2

  • ITPKC
  • Protein-coding gene in the species Homo sapiens

    mutation in ITPKC is correlated to the increased risk of developing symptoms. ITPR1 Inositol triphosphate Onouchi Y, Gunji T, Burns JC, et al. (January 2008)

    ITPKC

    ITPKC

  • PRKG1
  • Protein-coding gene in the species Homo sapiens

    encoded by the PRKG1 gene. PRKG1 has been shown to interact with: GTF2I, ITPR1, MRVI1, RGS2, and TNNT1. GRCh38: Ensembl release 89: ENSG00000185532 – Ensembl

    PRKG1

    PRKG1

    PRKG1

  • Calcium-binding protein 1
  • Protein found in humans

    Protein that attributes for CABP1 Gene is homodimer. It interacts with ITPR1, ITPR2 and ITPR3 via C-terminus. The binding is calcium dependent and the

    Calcium-binding protein 1

    Calcium-binding protein 1

    Calcium-binding_protein_1

  • AHCYL1
  • Protein-coding gene in humans

    humans is encoded by the AHCYL1 gene. AHCYL1 has been shown to interact with ITPR1. GRCh38: Ensembl release 89: ENSG00000168710 – Ensembl, May 2017 GRCm38:

    AHCYL1

    AHCYL1

    AHCYL1

  • Index of biophysics articles
  • Index of articles on biophysics

    bipedalism Hydrophobic mismatch Hydrostatic skeleton Hyperpolarization (biology) ITPR1 ITPR2 ITPR3 Iatrogenic hypocholesterolemia Ichiji Tasaki IgSF CAM Inner

    Index of biophysics articles

    Index_of_biophysics_articles

  • List of human protein-coding genes 4
  • P23677 7863 ITPKB HGNC:6179; P27987 7864 ITPKC HGNC:14897; Q96DU7 7865 ITPR1 HGNC:6180; Q14643 7866 ITPR2 HGNC:6181; Q14571 7867 ITPR3 HGNC:6182; Q14573

    List of human protein-coding genes 4

    List_of_human_protein-coding_genes_4

  • List of OMIM disorder codes
  • Spinocerebellar ataxia 14; 605361; PRKCG Spinocerebellar ataxia 15; 606658; ITPR1 Spinocerebellar ataxia 17; 607136; TBP Spinocerebellar ataxia 28; 610246;

    List of OMIM disorder codes

    List_of_OMIM_disorder_codes

  • Stephanie Schorge
  • Neuroscientist

    "Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling". Trends in Neurosciences. 33 (5): 211–219. doi:10

    Stephanie Schorge

    Stephanie_Schorge

  • Gaiti Hasan
  • Indian scientist (born 1956)

    Gaiti (2012). "Functional Complementation of Drosophila itpr Mutants by RatItpr1". Journal of Neurogenetics. 26 (3–4): 328–37. doi:10.3109/01677063.2012

    Gaiti Hasan

    Gaiti_Hasan

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