1. Gene
  2. CALN1 - calneuron 1 Gene

CALN1 - calneuron 1 Gene

Homo sapiens

Also known as CABP8

Gene ID: 83698 | Gene type: protein coding

About CALN1

Cytogenetic location: 7q11.22 Genomic coordinates (GRCh38): 7:71,779,491-72,504,279 (from NCBI)

This gene has 6 transcripts (splice variants), 277 orthologues and 20 paralogues. Biased expression in brain (RPKM 8.4), adrenal (RPKM 3.0) and 1 other tissue.

Summary

This gene encodes a protein with high similarity to the calcium-binding proteins of the Calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

CALN1 Products(3)

mRNA Protein Name
NM_001017440.3 NP_001017440.1 calcium-binding protein 8 isoform 2
NM_001363460.1 NP_001350389.1 calcium-binding protein 8 isoform 2
NM_031468.4 NP_113656.2 calcium-binding protein 8 isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence Reference Source
located in trans-Golgi network membrane IDA
IDA: Inferred from direct assay
19338761 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CALN1 Protein Structure

EF-hand_7

EF-hand_7: EF-hand domain pair (41 - 100)

  • 0
  • 100
  • 200
  • 219 a.a.
Protein Preferred Names Protein Names

calcium-binding protein 8

calcium-binding protein CABP8

CALN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
CALN1 Q9BXU9 LIME1 Homo sapiens Q9H400 32296183
Intra
CALN1 Q9BXU9 LIME1 Homo sapiens Q9H400 32296183
Intra
CALN1 Q9BXU9 LIME1 Homo sapiens Q9H400 32296183
Intra
CALN1 Q9BXU9 SLPI Homo sapiens P03973 32296183
Intra
CALN1 Q9BXU9 SLPI Homo sapiens P03973 32296183
Intra
CALN1 Q9BXU9 USE1 Homo sapiens Q9NZ43 32296183
Intra
CALN1 Q9BXU9 FATE1 Homo sapiens Q969F0 32296183
Intra
CALN1 Q9BXU9 FATE1 Homo sapiens Q969F0 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
D-Glyceric Aciduria

D-Glyceric Acidemia

D-Glycericacidemia

Glycerate Kinase Deficiency

D-Glycerate Kinase Deficiency

Non Ketotic Hyperglycinemia Syndrome

Deficiency Of Glycerate Kinase

Hyperglycinemia, Non-Ketotic

D-GA

Deafness, Autosomal Recessive 39

DFNB39

Autosomal Recessive Nonsyndromic Deafness 39

Autosomal Recessive Deafness 39

Deafness, Autosomal Recessive, 39

Congenital Neurosensory Deafness Autosomal Recessive 39

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 39

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 39

Deafness, Autosomal Recessive, Type 39

Drug Psychosis

Drug-Induced Psychosis

Drug-Induced Psychotic Disorder

Psychoses, Substance-Induced

Psychoses, Drug

Drug-Induced Mental Disorder
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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
Macaca mulatta CALN1 VGNC VGNC:82078
Mus musculus CALN1 MGD MGI:2155987
Rattus norvegicus CALN1 RGD RGD:1305843
Canis familiaris CALN1 VGNC VGNC:38674
Bos taurus CALN1 VGNC VGNC:26714