Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11261
Gene name Gene Name - the full gene name approved by the HGNC.	Calcineurin like EF-hand protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHP1
Synonyms (NCBI Gene) Gene synonyms aliases	CHP, SLC9A1BP, SPAX9, Sid470p, p22, p24
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q15.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein s

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031773	hsa-miR-16-5p	Proteomics	18668040

Show/Hide all(64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	ISS
GO:0001578	Process	Microtubule bundle formation	ISS
GO:0001933	Process	Negative regulation of protein phosphorylation	ISS
GO:0004860	Function	Protein kinase inhibitor activity	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	15035633
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	8901634, 10593895, 11350981, 15035633, 30177828, 31912575, 35271311, 35613257
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11350981, 15035633
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	29379881
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006469	Process	Negative regulation of protein kinase activity	ISS
GO:0006611	Process	Protein export from nucleus	ISS
GO:0006813	Process	Potassium ion transport	TAS	8901634
GO:0007264	Process	Small GTPase-mediated signal transduction	TAS	8901634
GO:0008017	Function	Microtubule binding	ISS
GO:0010923	Process	Negative regulation of phosphatase activity	IDA	10593895
GO:0012505	Component	Endomembrane system	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015385	Function	Sodium:proton antiporter activity	IEA
GO:0015459	Function	Potassium channel regulator activity	TAS	8901634
GO:0015630	Component	Microtubule cytoskeleton	ISS
GO:0016020	Component	Membrane	IEA
GO:0019900	Function	Kinase binding	ISS
GO:0022406	Process	Membrane docking	IBA
GO:0022406	Process	Membrane docking	ISS
GO:0030133	Component	Transport vesicle	ISS
GO:0031122	Process	Cytoplasmic microtubule organization	ISS
GO:0031397	Process	Negative regulation of protein ubiquitination	ISS
GO:0031953	Process	Negative regulation of protein autophosphorylation	ISS
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	10593895
GO:0032417	Process	Positive regulation of sodium:proton antiporter activity	IDA	8901634, 11350981
GO:0032417	Process	Positive regulation of sodium:proton antiporter activity	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042306	Process	Regulation of protein import into nucleus	IEA
GO:0042308	Process	Negative regulation of protein import into nucleus	IDA	10593895
GO:0045121	Component	Membrane raft	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048306	Function	Calcium-dependent protein binding	IDA	15035633
GO:0050821	Process	Protein stabilization	ISS
GO:0051222	Process	Positive regulation of protein transport	ISS
GO:0051453	Process	Regulation of intracellular pH	IDA	8901634, 15035633
GO:0060050	Process	Positive regulation of protein glycosylation	ISS
GO:0061024	Process	Membrane organization	ISS
GO:0061025	Process	Membrane fusion	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070884	Process	Regulation of calcineurin-NFAT signaling cascade	IEA
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	IBA
GO:0070885	Process	Negative regulation of calcineurin-NFAT signaling cascade	IDA	10593895
GO:0071073	Process	Positive regulation of phospholipid biosynthetic process	IMP	30846317
GO:0071468	Process	Cellular response to acidic pH	ISS
GO:0090314	Process	Positive regulation of protein targeting to membrane	ISS
GO:1990351	Component	Transporter complex	IEA

MIM	HGNC	e!Ensembl
606988	17433	ENSG00000187446

Protein

UniProt ID

Q99653

Protein name

Calcineurin B homologous protein 1 (Calcineurin B-like protein) (Calcium-binding protein CHP) (Calcium-binding protein p22) (EF-hand calcium-binding domain-containing protein p22)

Protein 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 be

PDB

2E30 , 7DSV , 7DSX , 7X2U

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00036	EF-hand_1	114 → 142	EF hand	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. Has been found in fetal eye, lung, liver, muscle, heart, kidney, thymus and spleen. {ECO:0000269|PubMed:8901634}.

Sequence

MGSRASTLLRDEELEEIKKETGFSHSQITRLYSRFTSLDKGENGTLSREDFQRIPELAIN
PLGDRIINAFFPEGEDQVNFRGFMRTLAHFRPIEDNEKSKDVNGPEPLNSRSNKLHFAFR
LYDLDKDEKISRDELLQVLRMMVGVNISDEQLGSIADRTIQEADQDGDSAISFTEFVKVL
EKVDVEQKMSIRFLH

Sequence length

195

Interactions

View interactions

	Reactome
			Hyaluronan uptake and degradation

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Spastic Ataxia	Spastic ataxia 9, autosomal recessive	rs1310569366	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Asthma (childhood onset)	N/A	N/A	GWAS
Hypertension	Essential hypertension (time to event)	N/A	N/A	GWAS
Ulcerative colitis	Ulcerative colitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Inhibit	32397415
Atherosclerosis	Associate	10700443
Carcinoma Renal Cell	Stimulate	20304964
Coronary Artery Disease	Associate	10700443
Fibrosis	Inhibit	37924785
Granulomatous Disease Chronic	Associate	10452961, 10910929, 21190454
Granulomatous Disease Chronic Autosomal Recessive Cytochrome B Positive Type I	Associate	10910929
Hepatitis B	Associate	36715515
Hypertension	Associate	12729892
Hypoxia	Inhibit	24520084
Leiomyoma	Associate	24520084
Liver Failure	Inhibit	37924785
Melanoma	Associate	11997235
Micronuclei Chromosome Defective	Associate	32397415
Neoplasms	Associate	9781666
Neurologic Manifestations	Associate	34108458
Pancreatic Neoplasms	Associate	21118808
Sleep Apnea Obstructive	Associate	21902598

CHP1 (calcineurin like EF-hand protein 1)