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INPP5E

INPP5E

Mammalian protein found in Homo sapiens

5-phosphatase or Pharbin, is an enzyme that in humans is encoded by the INPP5E gene. INPP5E is a phosphatidylinositol (3,4,5)-trisphosphate (PtdInsP3) and phosphatidylinositol

INPP5E

MORM syndrome

Medical condition

likely to inherit the disorder. The syndrome is caused by a mutation in the INPP5E gene which can be located on chromosome 9 in humans. Further mapping resulted

MORM syndrome

MORM_syndrome

Joubert syndrome

Autosomal recessive genetic disorder

Type OMIM Gene Locus Inheritance Remarks JBTS1 213300 INPP5E 9q34.3 Autosomal recessive Also known as Cerebellooculorenal syndrome 1 (CORS1) JBTS2 608091

Joubert syndrome

Joubert_syndrome

List of genetic disorders

Jackson–Weiss syndrome FGFR2 Jacobsen syndrome 11 1:100,000 Joubert syndrome INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138

List of genetic disorders

List_of_genetic_disorders

Synaptojanin

Protein involved in vesicle uncoating in neurons

of 5'phosphoinositide phosphatases include OCRL, SHIP1, SHIP2, INPP5J, INPP5E, INPP5B, INPP5A and SKIP.[citation needed] The synaptojanin family comprises

Synaptojanin

INPP

Topics referred to by the same term

Progressive Party, Myanmar Inositol-polyphosphate in chemistry (e.g. in INPP5E) This disambiguation page lists articles associated with the title INPP

INPP

Ciliopathy

Genetic disease resulting in abnormal formation or function of cilia

213300 AHI1, ATXN10, ARL13B, BRCC3, C5ORF42, CC2D2A, CEP41, CEP290, CORS2, INPP5E, JBTS1, JBTS3, JBTS4, KIF7, NPHP1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TMEM67

Ciliopathy

Endonuclease/Exonuclease/phosphatase family

Protein family

CNOT6; CNOT6L; DNASE1; DNASE1L1; DNASE1L2; DNASE1L3; INPP5A; INPP5B; INPP5D; INPP5E; INPPL1; KIAA1706; OCRL; PIB5PA; SKIP; SMPD2; SMPD3; SYNJ1; SYNJ2; TTRAP;

Endonuclease/Exonuclease/phosphatase family

Endonuclease/Exonuclease/phosphatase_family

Retinitis pigmentosa GTPase regulator

Protein found in humans

N-terminal of interacts with a PDE6D interacting protein, INPP5E (inositol polyphosphatase 5E). INPP5E has been shown to regulates phosphoinositide metabolism

Retinitis pigmentosa GTPase regulator

Retinitis_pigmentosa_GTPase_regulator

PMPCA

Protein-coding gene in humans

PMPCA Identifiers Aliases PMPCA, Alpha-MPP, INPP5E, P-55, SCAR2, peptidase, mitochondrial processing alpha subunit, CLA1, CPD3, peptidase, mitochondrial

PMPCA

List of OMIM disorder codes

KCNQ1 Johanson–Blizzard syndrome; 243800; UBR1 Joubert syndrome 1; 213300; INPP5E Joubert syndrome 10; 300804; OFD1 Joubert syndrome 2; 608091; TMEM216 Joubert

List of OMIM disorder codes

List_of_OMIM_disorder_codes

List of human protein-coding genes 4

Q14642 7690 INPP5B HGNC:6077; P32019 7691 INPP5D HGNC:6079; Q92835 7692 INPP5E HGNC:21474; Q9NRR6 7693 INPP5F HGNC:17054; Q9Y2H2 7694 INPP5J HGNC:8956;

List of human protein-coding genes 4

List_of_human_protein-coding_genes_4

RVxP motif

retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E". Journal of Cell Science. 130 (3): 563–576. doi:10.1242/jcs.197004. ISSN 0021-9533

RVxP motif

RVxP_motif