1. Gene
  2. CHP1 - calcineurin like EF-hand protein 1 Gene

CHP1 - calcineurin like EF-hand protein 1 Gene

Homo sapiens

Also known as CHP; p22; p24; SPAX9; Sid470p; SLC9A1BP

Gene ID: 11261 | Gene type: protein coding

About CHP1

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:41,231,268-41,281,887 (from NCBI)

This gene has 9 transcripts (splice variants), 230 orthologues, 8 paralogues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 59.2), liver (RPKM 56.3) and 25 other tissues.

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]

CHP1 Products(1)

mRNA Protein Name
NM_007236.5 NP_009167.1 calcineurin B homologous protein 1

CHP1 Protein Structure

EF-hand_7

EF-hand_7: EF-hand domain pair (114 - 178)

  • 0
  • 100
  • 195 a.a.
Protein Preferred Names Protein Names

calcineurin B homologous protein 1

EF-hand calcium-binding domain-containing protein p22

Related Diseases

Diseases Alias
Spastic Ataxia 9, Autosomal Recessive

SPAX9

Lichtenstein-Knorr Syndrome

Scar19

LIKNS

Autosomal Recessive Spinocerebellar Ataxia 19

Spinocerebellar Ataxia, Autosomal Recessive 19

Progressive Autosomal Recessive Ataxia-Deafness Syndrome

Progressive Autosomal Recessive Ataxia-Sensorineural Hearing Loss Syndrome

Spinocerebellar Ataxia, Autosomal Recessive, 19

Cataract 3, Multiple Types

Cataract 3 Multiple Types

CTRCT3

Cca2

Cataract, Congenital, Cerulean Type, 2

Cataract 3, Multiple Types, With Or Without Microcornea

Cataract 3 Multiple Types With Or Without Microcornea

Congenital Cerulean Type Cataract 2

Congenital Cataract Blue Dot Type 2

Congenital Cataract Cerulean Type 2

Cspc

Sutural Cataract With Punctate And Cerulean Opacities

Spastic Paraparesis
Spastic Ataxia

Spax

Ataxia, Spastic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus CHP1 MGD MGI:1927185
Canis familiaris CHP1 VGNC VGNC:39227
Bos taurus CHP1 VGNC VGNC:27310
Rattus norvegicus CHP1 RGD RGD:620447
Felis catus CHP1 VGNC VGNC:81003