CHP1
entrez
11261
canonical
uniprot
Q99653
canonical
ensembl
ENSG00000187446
resolver
ensp
ENSP00000335632
resolver
ensp
ENSP00000452772
resolver
ensp
ENSP00000525022
resolver
enst
ENST00000334660
resolver
enst
ENST00000560784
resolver
enst
ENST00000854963
resolver
genesymbol
CHP1
resolver
genesymbol_syn
CHP
resolver
hgnc
HGNC:17433
resolver
uniprot
B2R6H9
resolver
uniprot
H0YKE7
resolver
uniprot
Q6FHZ9
resolver
uniprot_entry
CHP1_HUMAN
resolver
uniprot_entry
H0YKE7_HUMAN
resolver
uniprot_sec
B2R6H9
resolver
uniprot_sec
Q6FHZ9
resolver
amino_acid_sequence
MGSRASTLLRDEELEEIKKETGFSHSQITRLYSRFTSLDKGENGTLSREDFQRIPELAINPLGDRIINAFFPEGEDQVNFRGFMRTLAHFRPIEDNEKSKDVNGPEPLNSRSNKLHFAFRLYDLDKDEKISRDELLQVLRMMVGVNISDEQLGSIADRTIQEADQDGDSAISFTEFVKVLEKVDVEQKMSIRFLH
uniprot
proteins
disease_involvement
DISEASE: Spastic ataxia 9, autosomal recessive (SPAX9) [MIM:618438]: An autosomal recessive disorder characterized by onset of spastic ataxia in the first years of life. Clinical features include motor neuropathy, cerebellar atrophy, spastic paraparesis, intellectual disability, slow ocular saccades, axial hypotonia, distal muscle weakness and atrophy, and pyramidal symptoms, including hyperreflexia and extensor plantar responses. {ECO:0000269|PubMed:29379881}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Calcium-binding protein involved in different processes such as regulation of vesicular trafficking, plasma membrane Na(+)/H(+) exchanger and gene transcription. Involved in the constitutive exocytic membrane traffic. Mediates the association between microtubules and membrane-bound organelles of the endoplasmic reticulum and Golgi apparatus and is also required for the targeting and fusion of transcytotic vesicles (TCV) with the plasma membrane. Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Affects the pH sensitivity of SLC9A1/NHE1 by increasing its sensitivity at acidic pH. Required for the stabilization and localization of SLC9A1/NHE1 at the plasma membrane. Inhibits serum- and GTPase-stimulated Na(+)/H(+) exchange. Plays a role as an inhibitor of ribosomal RNA transcription by repressing the nucleolar UBF1 transcriptional activity. May sequester UBF1 in the nucleoplasm and limit its translocation to the nucleolus. Associates to the ribosomal gene promoter. Acts as a negative regulator of the calcineurin/NFAT signaling pathway. Inhibits NFAT nuclear translocation and transcriptional activity by suppressing the calcium-dependent calcineurin phosphatase activity. Also negatively regulates the kinase activity of the apoptosis-induced kinase STK17B. Inhibits both STK17B auto- and substrate-phosphorylations in a calcium-dependent manner. {ECO:0000269|PubMed:10593895, ECO:0000269|PubMed:11350981, ECO:0000269|PubMed:15035633, ECO:0000269|PubMed:8901634}.
uniprot
proteins
mass_dalton
22456
uniprot
proteins
mutagenesis
MUTAGEN 50; /note="D->A: Does not reduce calcium-binding, colocalization and interaction with SLC9A1."; /evidence="ECO:0000269|PubMed:15035633"; MUTAGEN 134; /note="E->A: Reduces calcium-binding and SLC9A1-dependent Na(+)/H(+) exchange activity. Does not reduce colocalization and interaction with SLC9A1. Reduces colocalization and interaction with SLC9A1; when associated with A-175."; /evidence="ECO:0000269|PubMed:15035633"; MUTAGEN 143; /note="V->A: Inhibits translocation to the cytoplasm; when associated with A-145; A-147; A-183 and A-185."; /evidence="ECO:0000269|PubMed:20720019"; MUTAGEN 145; /note="V->A: Inhibits translocation to the cytoplasm; when associated with A-143; A-147; A-183 and A-185."; /evidence="ECO:0000269|PubMed:20720019"; MUTAGEN 147; /note="I->A: Inhibits translocation to the cytoplasm; when associated with A-143; A-145; A-183 and A-185."; /evidence="ECO:0000269|PubMed:20720019"; MUTAGEN 175; /note="E->A: Reduces calcium-binding and SLC9A1-dependent Na(+)/H(+) exchange activity. Does not reduce colocalization and interaction with SLC9A1. Reduces colocalization and interaction with SLC9A1; when associated with A-134."; /evidence="ECO:0000269|PubMed:15035633"; MUTAGEN 183; /note="V->A: Inhibits translocation to the cytoplasm; when associated with A-143; A-145; A-147 and A-185."; /evidence="ECO:0000269|PubMed:20720019"; MUTAGEN 185; /note="V->A: Inhibits translocation to the cytoplasm; when associated with A-143; A-145; A-147 and A-183."; /evidence="ECO:0000269|PubMed:20720019"; MUTAGEN 192; /note="R->A: Does not affect sodium:proton antiporter activity."; /evidence="ECO:0000269|PubMed:34108458
uniprot
proteins
post_translational_modification
PTM: Phosphorylated; decreased phosphorylation is associated with an increase in SLC9A1/NHE1 Na(+)/H(+) exchange activity. Phosphorylation occurs in serum-dependent manner. The phosphorylation state may regulate the binding to SLC9A1/NHE1. {ECO:0000269|PubMed:8901634}.; PTM: Both N-myristoylation and calcium-mediated conformational changes are essential for its function in exocytic traffic (By similarity). N-myristoylation is required for its association with microtubules and interaction with GAPDH, but not for the constitutive association to membranes. {ECO:0000250}.
uniprot
proteins
protein_family
CHP subfamily
uniprot
proteins
protein_family
Calcineurin regulatory subunit family
uniprot
proteins
pubmed
10593895
uniprot
proteins
pubmed
11350981
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15035633
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17050540
uniprot
proteins
pubmed
20720019
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25255805
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29379881
uniprot
proteins
pubmed
34108458
uniprot
proteins
pubmed
35613257
uniprot
proteins
pubmed
8901634
uniprot
proteins
sequence_length
195
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P61023}. Cytoplasm {ECO:0000250|UniProtKB:P61023}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P61023}. Endomembrane system {ECO:0000250|UniProtKB:P61023}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000250|UniProtKB:P61023}. Endoplasmic reticulum {ECO:0000250|UniProtKB:P61023}. Cell membrane {ECO:0000269|PubMed:15035633, ECO:0000269|PubMed:29379881}. Membrane {ECO:0000269|PubMed:11350981, ECO:0000269|PubMed:29379881}; Lipid-anchor {ECO:0000269|PubMed:25255805}. Note=Localizes in cytoplasmic compartments in dividing cells. Localizes in the nucleus in quiescent cells. Exported from the nucleus to the cytoplasm through a nuclear export signal (NES) and CRM1-dependent pathway. May shuttle between nucleus and cytoplasm. Localizes with the microtubule-organizing center (MTOC) and extends toward the periphery along microtubules. Associates with membranes of the early secretory pathway in a GAPDH-independent, N-myristoylation- and calcium-dependent manner. Colocalizes with the mitotic spindle microtubules. Colocalizes with GAPDH along microtubules. Colocalizes with SLC9A1 at the endoplasmic reticulum and plasma membrane. Colocalizes with STK17B at the plasma membrane. {ECO:0000250|UniProtKB:P61023}.
uniprot
proteins