1. Gene
  2. CAPNS1 - calpain small subunit 1 Gene

CAPNS1 - calpain small subunit 1 Gene

Homo sapiens

Also known as CANP; CDPS; CSS1; CANPS; CAPN4; CALPAIN4

Gene ID: 826 | Gene type: protein coding

About CAPNS1

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:36,140,066-36,150,353 (from NCBI)

This gene has 17 transcripts (splice variants), 296 orthologues and 20 paralogues. Ubiquitous expression in esophagus (RPKM 128.4), heart (RPKM 97.8) and 25 other tissues.

Summary

This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including Apoptosis, proliferation, migration, adhesion, and Autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

CAPNS1 Products(4)

mRNA Protein Name
NM_001003962.3 NP_001003962.1 calpain small subunit 1 isoform 1
NM_001302632.2 NP_001289561.1 calpain small subunit 1 isoform 1
NM_001302633.2 NP_001289562.1 calpain small subunit 1 isoform 2
NM_001749.4 NP_001740.1 calpain small subunit 1 isoform 1
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables calcium-dependent cysteine-type endopeptidase activity IDA
IDA: Inferred from direct assay
17646163 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10639123 GOA
Cellular Component GO Annotation Evidence Reference Source
part of calpain complex IPI
IPI: Inferred from physical interaction
10639123 GOA
located in cytosol IDA
IDA: Inferred from direct assay
14559243 GOA
located in membrane IDA
IDA: Inferred from direct assay
14559243 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

CAPNS1 Protein Structure

EF-hand_8

EF-hand_8: EF-hand domain pair (112 - 168)

EF-hand_6

EF-hand_6: EF-hand domain (173 - 198)

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

calpain small subunit 1

CANP small subunit

CAPNS1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
CAPNS1 P04632 RASA1 Homo sapiens P20936
Anti Bait CoIP
18761085
Intra
CAPNS1 P04632 RASA1 Homo sapiens P20936
Competition Binding
18761085
Intra
CAPNS1 P04632 CAPN2 Homo sapiens P17655
CD
28319173
Intra
CAPNS1 P04632 CAPN2 Homo sapiens P17655
X-Ray Diffraction
10639123
Intra
CAPNS1 P04632 AGTRAP Homo sapiens Q6RW13
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ulcer Of Lower Limbs

Ulcer Of Ankle

Ulcer Of Calf

Ulcer Of Heel And Midfoot

Ulcer Of Thigh

Ulcer Of Lower Limb

Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

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 CAPNS1 MGD MGI:88266
Rattus norvegicus CAPNS1 RGD RGD:2270
Bos taurus CAPNS1 VGNC VGNC:52184
Macaca mulatta CAPNS1 VGNC VGNC:108488
Canis familiaris CAPNS1 VGNC VGNC:53676