UniProtKB - Q14714 (SSPN_HUMAN)
Protein
Sarcospan
Gene
SSPN
Organism
Homo sapiens (Human)
Status
Functioni
Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of the DGC.
GO - Biological processi
- cell adhesion Source: ProtInc
- muscle contraction Source: ProtInc
Enzyme and pathway databases
PathwayCommonsi | Q14714 |
SIGNORi | Q14714 |
Names & Taxonomyi
Protein namesi | Recommended name: SarcospanAlternative name(s): K-ras oncogene-associated protein Kirsten-ras-associated protein |
Gene namesi | Name:SSPN Synonyms:KRAG |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:11322, SSPN |
MIMi | 601599, gene |
neXtProti | NX_Q14714 |
VEuPathDBi | HostDB:ENSG00000123096.11 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein By similarity
- sarcolemma By similarity
- postsynaptic cell membrane By similarity; Multi-pass membrane protein By similarity
Note: Also found in myotendinous junctions and in the postsynaptic membrane of neuromuscular junctions.By similarity
Plasma Membrane
- dystrophin-associated glycoprotein complex Source: ProtInc
- integral component of plasma membrane Source: ProtInc
- postsynaptic membrane Source: UniProtKB-SubCell
- sarcolemma Source: GO_Central
Other locations
- transport vesicle Source: LIFEdb
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 53 | CytoplasmicSequence analysisAdd BLAST | 53 | |
Transmembranei | 54 – 74 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 75 – 86 | ExtracellularSequence analysisAdd BLAST | 12 | |
Transmembranei | 87 – 107 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 108 – 122 | CytoplasmicSequence analysisAdd BLAST | 15 | |
Transmembranei | 123 – 143 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 144 – 193 | ExtracellularSequence analysisAdd BLAST | 50 | |
Transmembranei | 194 – 214 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 215 – 243 | CytoplasmicSequence analysisAdd BLAST | 29 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, SynapsePathology & Biotechi
Organism-specific databases
DisGeNETi | 8082 |
OpenTargetsi | ENSG00000123096 |
PharmGKBi | PA36146 |
Miscellaneous databases
Pharosi | Q14714, Tbio |
Genetic variation databases
BioMutai | SSPN |
DMDMi | 13431900 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000072226 | 1 – 243 | SarcospanAdd BLAST | 243 |
Proteomic databases
jPOSTi | Q14714 |
MassIVEi | Q14714 |
PaxDbi | Q14714 |
PeptideAtlasi | Q14714 |
PRIDEi | Q14714 |
ProteomicsDBi | 3623 60142 [Q14714-1] 60143 [Q14714-2] |
PTM databases
iPTMneti | Q14714 |
PhosphoSitePlusi | Q14714 |
SwissPalmi | Q14714 |
Expressioni
Tissue specificityi
Isoform 1 is expressed exclusively in heart and skeletal muscle. Isoform 2 is expressed in heart, skeletal muscle, thymus, prostate, testis, ovary, small intestine, colon and spleen.
Gene expression databases
Bgeei | ENSG00000123096, Expressed in myometrium and 246 other tissues |
ExpressionAtlasi | Q14714, baseline and differential |
Genevisiblei | Q14714, HS |
Organism-specific databases
HPAi | ENSG00000123096, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 113755, 2 interactors |
CORUMi | Q14714 |
IntActi | Q14714, 2 interactors |
MINTi | Q14714 |
STRINGi | 9606.ENSP00000242729 |
Miscellaneous databases
RNActi | Q14714, protein |
Family & Domainsi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502RYPH, Eukaryota |
GeneTreei | ENSGT00390000007747 |
HOGENOMi | CLU_1271931_0_0_1 |
InParanoidi | Q14714 |
OMAi | IMWKHRY |
OrthoDBi | 1462432at2759 |
PhylomeDBi | Q14714 |
TreeFami | TF332100 |
Family and domain databases
InterProi | View protein in InterPro IPR007237, CD20-like IPR030429, Sarcospan |
PANTHERi | PTHR15260, PTHR15260, 1 hit |
Pfami | View protein in Pfam PF04103, CD20, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q14714-1) [UniParc]FASTAAdd to basket
Also known as: SPN1
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGKNKQPRGQ QRQGGPPAAD AAGPDDMEPK KGTGAPKECG EEEPRTCCGC
60 70 80 90 100
RFPLLLALLQ LALGIAVTVV GFLMASISSS LLVRDTPFWA GIIVCLVAYL
110 120 130 140 150
GLFMLCVSYQ VDERTCIQFS MKLLYFLLSA LGLTVCVLAV AFAAHHYSQL
160 170 180 190 200
TQFTCETTLD SCQCKLPSSE PLSRTFVYRD VTDCTSVTGT FKLFLLIQMI
210 220 230 240
LNLVCGLVCL LACFVMWKHR YQVFYVGVRI CSLTASEGPQ QKI
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H0K2 | F5H0K2_HUMAN | Sarcospan | SSPN | 128 | Annotation score: | ||
F5H381 | F5H381_HUMAN | Sarcospan | SSPN | 120 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 13 | Missing (PubMed:9395445).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051384 | 186 | S → N. Corresponds to variant dbSNP:rs12313670Ensembl. | 1 | |
Natural variantiVAR_051385 | 228 | V → I. Corresponds to variant dbSNP:rs12313736Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046351 | 1 – 103 | Missing in isoform 3. 1 PublicationAdd BLAST | 103 | |
Alternative sequenceiVSP_004431 | 108 – 218 | Missing in isoform 2. 2 PublicationsAdd BLAST | 111 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF016028 mRNA Translation: AAC61660.2 AL136756 mRNA Translation: CAB66690.1 AK092925 mRNA Translation: BAG52629.1 AC022509 Genomic DNA No translation available. AC055720 Genomic DNA No translation available. BC062299 mRNA Translation: AAH62299.1 X89105 mRNA Translation: CAA61479.1 |
CCDSi | CCDS44850.1 [Q14714-3] CCDS8707.1 [Q14714-1] |
PIRi | S57712 |
RefSeqi | NP_001129295.1, NM_001135823.1 [Q14714-3] NP_005077.2, NM_005086.4 [Q14714-1] XP_011519155.1, XM_011520853.2 [Q14714-3] XP_011519156.1, XM_011520854.2 [Q14714-3] XP_011519157.1, XM_011520855.2 [Q14714-3] |
Genome annotation databases
Ensembli | ENST00000242729; ENSP00000242729; ENSG00000123096 [Q14714-1] ENST00000422622; ENSP00000396087; ENSG00000123096 [Q14714-3] ENST00000540266; ENSP00000442893; ENSG00000123096 [Q14714-3] |
GeneIDi | 8082 |
KEGGi | hsa:8082 |
UCSCi | uc001rhd.4, human [Q14714-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF016028 mRNA Translation: AAC61660.2 AL136756 mRNA Translation: CAB66690.1 AK092925 mRNA Translation: BAG52629.1 AC022509 Genomic DNA No translation available. AC055720 Genomic DNA No translation available. BC062299 mRNA Translation: AAH62299.1 X89105 mRNA Translation: CAA61479.1 |
CCDSi | CCDS44850.1 [Q14714-3] CCDS8707.1 [Q14714-1] |
PIRi | S57712 |
RefSeqi | NP_001129295.1, NM_001135823.1 [Q14714-3] NP_005077.2, NM_005086.4 [Q14714-1] XP_011519155.1, XM_011520853.2 [Q14714-3] XP_011519156.1, XM_011520854.2 [Q14714-3] XP_011519157.1, XM_011520855.2 [Q14714-3] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 113755, 2 interactors |
CORUMi | Q14714 |
IntActi | Q14714, 2 interactors |
MINTi | Q14714 |
STRINGi | 9606.ENSP00000242729 |
PTM databases
iPTMneti | Q14714 |
PhosphoSitePlusi | Q14714 |
SwissPalmi | Q14714 |
Genetic variation databases
BioMutai | SSPN |
DMDMi | 13431900 |
Proteomic databases
jPOSTi | Q14714 |
MassIVEi | Q14714 |
PaxDbi | Q14714 |
PeptideAtlasi | Q14714 |
PRIDEi | Q14714 |
ProteomicsDBi | 3623 60142 [Q14714-1] 60143 [Q14714-2] |
Protocols and materials databases
Antibodypediai | 24301, 64 antibodies |
DNASUi | 8082 |
Genome annotation databases
Ensembli | ENST00000242729; ENSP00000242729; ENSG00000123096 [Q14714-1] ENST00000422622; ENSP00000396087; ENSG00000123096 [Q14714-3] ENST00000540266; ENSP00000442893; ENSG00000123096 [Q14714-3] |
GeneIDi | 8082 |
KEGGi | hsa:8082 |
UCSCi | uc001rhd.4, human [Q14714-1] |
Organism-specific databases
CTDi | 8082 |
DisGeNETi | 8082 |
GeneCardsi | SSPN |
HGNCi | HGNC:11322, SSPN |
HPAi | ENSG00000123096, Low tissue specificity |
MIMi | 601599, gene |
neXtProti | NX_Q14714 |
OpenTargetsi | ENSG00000123096 |
PharmGKBi | PA36146 |
VEuPathDBi | HostDB:ENSG00000123096.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RYPH, Eukaryota |
GeneTreei | ENSGT00390000007747 |
HOGENOMi | CLU_1271931_0_0_1 |
InParanoidi | Q14714 |
OMAi | IMWKHRY |
OrthoDBi | 1462432at2759 |
PhylomeDBi | Q14714 |
TreeFami | TF332100 |
Enzyme and pathway databases
PathwayCommonsi | Q14714 |
SIGNORi | Q14714 |
Miscellaneous databases
BioGRID-ORCSi | 8082, 6 hits in 877 CRISPR screens |
ChiTaRSi | SSPN, human |
GenomeRNAii | 8082 |
Pharosi | Q14714, Tbio |
PROi | PR:Q14714 |
RNActi | Q14714, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000123096, Expressed in myometrium and 246 other tissues |
ExpressionAtlasi | Q14714, baseline and differential |
Genevisiblei | Q14714, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007237, CD20-like IPR030429, Sarcospan |
PANTHERi | PTHR15260, PTHR15260, 1 hit |
Pfami | View protein in Pfam PF04103, CD20, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SSPN_HUMAN | |
Accessioni | Q14714Primary (citable) accession number: Q14714 Secondary accession number(s): B3KS67 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 27, 2001 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 10, 2021 | |
This is version 159 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot