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Protein

Survival of motor neuron-related-splicing factor 30

Gene

SMNDC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Necessary for spliceosome assembly. Overexpression causes apoptosis.3 Publications

GO - Molecular functioni

GO - Biological processi

  • apoptotic process Source: ProtInc
  • mRNA splicing, via spliceosome Source: Reactome
  • RNA splicing, via transesterification reactions Source: UniProtKB

Keywordsi

Biological processApoptosis, mRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-72163 mRNA Splicing - Major Pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Survival of motor neuron-related-splicing factor 30
Alternative name(s):
30 kDa splicing factor SMNrp
SMN-related protein
Survival motor neuron domain-containing protein 1
Gene namesi
Name:SMNDC1
Synonyms:SMNR, SPF30
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000119953.12
HGNCiHGNC:16900 SMNDC1
MIMi603519 gene
neXtProtiNX_O75940

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus, Spliceosome

Pathology & Biotechi

Organism-specific databases

DisGeNETi10285
GeneReviewsiSMNDC1
MalaCardsiSMNDC1
OpenTargetsiENSG00000119953
PharmGKBiPA134990780

Polymorphism and mutation databases

BioMutaiSMNDC1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002189081 – 238Survival of motor neuron-related-splicing factor 30Add BLAST238

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei201PhosphoserineCombined sources1
Modified residuei219N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO75940
MaxQBiO75940
PaxDbiO75940
PeptideAtlasiO75940
PRIDEiO75940
ProteomicsDBi50303
TopDownProteomicsiO75940

PTM databases

iPTMnetiO75940
PhosphoSitePlusiO75940

Expressioni

Tissue specificityi

Detected at intermediate levels in skeletal muscle, and at low levels in heart and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000119953
CleanExiHS_SMNDC1
GenevisibleiO75940 HS

Organism-specific databases

HPAiHPA061214

Interactioni

Subunit structurei

Associates with spliceosomes. Associates with U4/U5/U6 tri-snRNP and with U2 snRNP.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi115574, 30 interactors
CORUMiO75940
IntActiO75940, 34 interactors
MINTiO75940
STRINGi9606.ENSP00000358605

Structurei

Secondary structure

1238
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi78 – 82Combined sources5
Turni84 – 86Combined sources3
Beta strandi87 – 98Combined sources12
Turni99 – 102Combined sources4
Beta strandi103 – 108Combined sources6
Turni109 – 112Combined sources4
Beta strandi113 – 118Combined sources6
Helixi119 – 121Combined sources3

3D structure databases

ProteinModelPortaliO75940
SMRiO75940
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini72 – 132TudorPROSITE-ProRule annotationAdd BLAST61

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi142 – 160Nuclear localization signalSequence analysisAdd BLAST19

Domaini

The Tudor domain mediates association with dimethylarginines, which are common in snRNP proteins.

Sequence similaritiesi

Belongs to the SMN family.Curated

Phylogenomic databases

eggNOGiKOG3026 Eukaryota
ENOG4110IGD LUCA
GeneTreeiENSGT00730000111118
HOGENOMiHOG000007521
HOVERGENiHBG057021
InParanoidiO75940
KOiK12839
OMAiAEQREYK
OrthoDBiEOG091G0OJK
PhylomeDBiO75940
TreeFamiTF315413

Family and domain databases

InterProiView protein in InterPro
IPR010304 Survival_motor_neuron
IPR002999 Tudor
PfamiView protein in Pfam
PF06003 SMN, 1 hit
SMARTiView protein in SMART
SM00333 TUDOR, 1 hit
PROSITEiView protein in PROSITE
PS50304 TUDOR, 1 hit

Sequencei

Sequence statusi: Complete.

O75940-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSEDLAKQLA SYKAQLQQVE AALSGNGENE DLLKLKKDLQ EVIELTKDLL
60 70 80 90 100
STQPSETLAS SDSFASTQPT HSWKVGDKCM AVWSEDGQCY EAEIEEIDEE
110 120 130 140 150
NGTAAITFAG YGNAEVTPLL NLKPVEEGRK AKEDSGNKPM SKKEMIAQQR
160 170 180 190 200
EYKKKKALKK AQRIKELEQE REDQKVKWQQ FNNRAYSKNK KGQVKRSIFA
210 220 230
SPESVTGKVG VGTCGIADKP MTQYQDTSKY NVRHLMPQ
Length:238
Mass (Da):26,711
Last modified:November 1, 1998 - v1
Checksum:i7F60852AD4D1F53A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti174Q → R in BAG36724 (PubMed:14702039).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF083385 mRNA Translation: AAC64086.1
AF107463 mRNA Translation: AAC84148.1
AK314013 mRNA Translation: BAG36724.1
AL360182 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49561.1
CH471066 Genomic DNA Translation: EAW49562.1
CH471066 Genomic DNA Translation: EAW49564.1
BC011234 mRNA Translation: AAH11234.1
CCDSiCCDS7565.1
RefSeqiNP_005862.1, NM_005871.3
UniGeneiHs.632093

Genome annotation databases

EnsembliENST00000369592; ENSP00000358605; ENSG00000119953
ENST00000369603; ENSP00000358616; ENSG00000119953
GeneIDi10285
KEGGihsa:10285
UCSCiuc001kzc.5 human

Similar proteinsi

Entry informationi

Entry nameiSPF30_HUMAN
AccessioniPrimary (citable) accession number: O75940
Secondary accession number(s): B2RA27, D3DRB1, Q5T3K6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2003
Last sequence update: November 1, 1998
Last modified: July 18, 2018
This is version 171 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

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