logo CaMPDB: Calpain for Modulatory Proteolysis Database

SB0112 : Survival motor neuron protein 1, SMN1

[ CaMP Format ]

* Basic Information

OrganismHomo sapiens (human)
Protein Namessurvival motor neuron protein isoform d [Homo sapiens]; survival motor neuron protein isoform d; gemin-1; component of gems 1; survival motor neuron 1 protein; tudor domain containing 16A; Survival motor neuron protein; Component of gems 1; Gemin-1
Gene NamesSMN1; SMNC; SMN; SMNT; survival of motor neuron 1, telomeric
Gene Locus5q13.2; chromosome 5
GO FunctionNot available
Entrez Protein Entrez Nucleotide Entrez Gene UniProt OMIM HGNC HPRD KEGG
NP_000335 NM_000344 6606 Q16637 600354 HGNC:11117 02646 hsa:6607

* Information From OMIM

Description: The SMN1 and SMN2 (OMIM:601627) genes lie within the telomeric and centromeric halves, respectively, of a large, inverted duplication on chromosome 5q13. These genes share more than 99% nucleotide identity, and both are capable of encoding a 294-amino acid RNA-binding protein, SMN, that is required for efficient assembly of small nuclear ribonucleoprotein (snRNP) complexes. Homozygous loss of the SMN1 gene causes spinal muscular atrophy (SMA; OMIM:253300). Absence of SMN1 is partially compensated for by SMN2, which produces enough SMN protein to allow for relatively normal development in cell types other than motor neurons. However, SMN2 cannot fully compensate for loss of SMN1 because, although SMN2 is transcribed at a level comparable to that of SMN1, a large majority of SMN2 transcripts lack exon 7, resulting in production of a truncated, less stable SMN protein (Lefebvre et al., 1995; Kashima et al., 2007). A small proportion of SMN1 associates with polyribosomes and represses translation of target mRNAs (Sanchez et al., 2013).

» More (1)

* Structure Information

1. Primary Information

Length: 294 aa

Average Mass: 31.848 kDa

Monoisotopic Mass: 31.828 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain namebeginendscoree-value
Tudor domain 1. 8014143.00.1

3. Sequence Information

Fasta Sequence: SB0112.fasta

Amino Acid Sequence and Secondary Structures (PsiPred):

4. 3D Information

Known Structures in PDB: 1G5V (NMR; -; A=82-169), 1MHN (X-ray; 180 A; A=89-147), 2LEH (NMR; -; B=26-51), 3S6N (X-ray; 250 A; M=26-62), 4A4E (NMR; -; A=84-147), 4A4G (NMR; -; A=84-147), 4GLI (X-ray; 190 A; A=263-294), 4NL6 (X-ray; 550 A; A/B/C=1-294), 4NL7 (X-ray; 300 A; A=11-278), 4QQ6 (X-ray; 175 A; A=82-147)

* Cleavage Information

2 [sites] cleaved by Calpain 1

Source Reference: [PubMed ID: 21209906] Fuentes JL, Strayer MS, Matera AG, Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain. PLoS One. 2010 Dec 30;5(12):e15769. doi: 10.1371/journal.pone.0015769.

Cleavage sites (±10aa)


Ser192 Phe

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'

Sequence conservation (by blast)


Phe193 Leu

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'

Sequence conservation (by blast)

* References

[PubMed ID: 24711022] Zeng G, Zheng H, Cheng J, Chen R, Lin H, Yang J, Zhang D, [Analysis and carrier screening for copy numbers of SMN and NAIP genes in children with spinal muscular atrophy]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Apr;31(2):152-5. doi:

» More (13)