CHP1 calcineurin like EF-hand protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHP1provided by HGNC
Official Full Name: calcineurin like EF-hand protein 1provided by HGNC
Primary source: HGNC:HGNC:17433
See related: Ensembl:ENSG00000187446 MIM:606988; AllianceGenome:HGNC:17433
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CHP; p22; p24; SPAX9; Sid470p; SLC9A1BP
Summary: 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 shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in colon (RPKM 59.2), liver (RPKM 56.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q15.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (41231268..41281887)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (39037454..39088066)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (41523466..41574085)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Chp1 is a dedicated chaperone at the ribosome that safeguards eEF1A biogenesis.
Title: Chp1 is a dedicated chaperone at the ribosome that safeguards eEF1A biogenesis.
Structure and mechanism of the human NHE1-CHP1 complex.
Title: Structure and mechanism of the human NHE1-CHP1 complex.
Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings.
Title: Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings.
GPAT4 activity requires CHP1 to be N-myristoylated, forming a key molecular interface between the two proteins, regulating glycerolipid metabolism.
Title: CHP1 Regulates Compartmentalized Glycerolipid Synthesis by Activating GPAT4.
Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
CHP2 has a role in tumorigenesis and as an activator of the calcineurin/NFAT signaling pathway
Title: CHP2 activates the calcineurin/nuclear factor of activated T cells signaling pathway and enhances the oncogenic potential of HEK293 cells.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: SNPs in axon guidance pathway genes and susceptibility for Parkinson's disease in the Korean population.
serum-independent activation of NHE1 by bound CHP2 is one of the key mechanisms for the maintenance of high pH(i) and the resistance to serum deprivation-induced cell death in malignantly transformed cells
Title: Expression of calcineurin B homologous protein 2 protects serum deprivation-induced cell death by serum-independent activation of Na+/H+ exchanger.
CHP is important for pH(i)-dependent regulation of Na+/H+ exchanger 1 (NHE1) via tightly bound Ca2+ ions which serve as a crucial structural elements required for this role.
Title: Role of calcineurin B homologous protein in pH regulation by the Na+/H+ exchanger 1: tightly bound Ca2+ ions as important structural elements.
crystallographic analysis of the human calcineurin homologous protein CHP2 bound to the cytoplasmic region of the Na+/H+ exchanger NHE1
Title: Crystallization and preliminary crystallographic analysis of the human calcineurin homologous protein CHP2 bound to the cytoplasmic region of the Na+/H+ exchanger NHE1.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spastic ataxia 9, autosomal recessive MedGen: C5193100 OMIM: 618438 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L17705 (e-PCR)
- UniSTS:66091

PMC156606P1 (e-PCR)
- UniSTS:271408

WI-17591 (e-PCR)
- UniSTS:77622

RH71243 (e-PCR)
- UniSTS:50528

G35510 (e-PCR)
- UniSTS:44150

L17971 (e-PCR)
- UniSTS:43966

GDB:631802 (e-PCR)
- UniSTS:158429

GDB:631813 (e-PCR)
- UniSTS:158430

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables kinase binding	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule binding	ISS Inferred from Sequence or Structural Similarity more info
enables potassium channel regulator activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables sodium:proton antiporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to acidic pH	ISS Inferred from Sequence or Structural Similarity more info
involved_in cytoplasmic microtubule organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane docking	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule bundle formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of calcineurin-NFAT signaling cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein autophosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein import into nucleus	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of phospholipid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein glycosylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein targeting to membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of sodium:proton antiporter activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of sodium:proton antiporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of sodium:proton antiporter activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in protein export from nucleus	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of intracellular pH	IDA Inferred from Direct Assay more info	PubMed
involved_in small GTPase-mediated signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in microtubule cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in transport vesicle	ISS Inferred from Sequence or Structural Similarity more info
part_of transporter complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: calcineurin B homologous protein 1

Names: EF-hand calcium-binding domain-containing protein p22; SLC9A1 binding protein; calcineurin B homolog; calcineurin B-like protein; calcineurin homologous protein; calcium binding protein P22; calcium-binding protein CHP; calcium-binding protein p22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_007236.5 → NP_009167.1 calcineurin B homologous protein 1

See identical proteins and their annotated locations for NP_009167.1

Status: REVIEWED

Source sequence(s)

AC012652

Consensus CDS

CCDS10073.1

UniProtKB/Swiss-Prot

B2R6H9, Q6FHZ9, Q99653

Related

ENSP00000335632.5, ENST00000334660.10

Conserved Domains (1) summary

COG5126
Location:1 → 182

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

41231268..41281887

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432125.1 → XP_047288081.1 calcineurin B homologous protein 1 isoform X2
XM_017021879.3 → XP_016877368.1 calcineurin B homologous protein 1 isoform X1

UniProtKB/TrEMBL

F5GX29, H0YKE7

Related

ENSP00000452772.1, ENST00000560784.5

Conserved Domains (1) summary

cl25352
Location:1 → 98

EFh_PEF; The penta-EF hand (PEF) family
XM_047432124.1 → XP_047288080.1 calcineurin B homologous protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

39037454..39088066

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377227.1 → XP_054233202.1 calcineurin B homologous protein 1 isoform X2
XM_054377225.1 → XP_054233200.1 calcineurin B homologous protein 1 isoform X1

UniProtKB/TrEMBL

H0YKE7
XM_054377226.1 → XP_054233201.1 calcineurin B homologous protein 1 isoform X2