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Protein

Sarcospan

Gene

SSPN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

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
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123096-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Sarcospan
Alternative name(s):
K-ras oncogene-associated protein
Kirsten-ras-associated protein
Gene namesi
Name:SSPN
Synonyms:KRAG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:11322. SSPN.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 53CytoplasmicSequence analysisAdd BLAST53
Transmembranei54 – 74HelicalSequence analysisAdd BLAST21
Topological domaini75 – 86ExtracellularSequence analysisAdd BLAST12
Transmembranei87 – 107HelicalSequence analysisAdd BLAST21
Topological domaini108 – 122CytoplasmicSequence analysisAdd BLAST15
Transmembranei123 – 143HelicalSequence analysisAdd BLAST21
Topological domaini144 – 193ExtracellularSequence analysisAdd BLAST50
Transmembranei194 – 214HelicalSequence analysisAdd BLAST21
Topological domaini215 – 243CytoplasmicSequence analysisAdd BLAST29

GO - Cellular componenti

  • cell junction Source: UniProtKB-KW
  • dystrophin-associated glycoprotein complex Source: ProtInc
  • integral component of plasma membrane Source: ProtInc
  • postsynaptic membrane Source: UniProtKB-SubCell
  • sarcolemma Source: UniProtKB-SubCell
  • transport vesicle Source: LIFEdb
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi8082.
OpenTargetsiENSG00000123096.
PharmGKBiPA36146.

Polymorphism and mutation databases

BioMutaiSSPN.
DMDMi13431900.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000722261 – 243SarcospanAdd BLAST243

Proteomic databases

PaxDbiQ14714.
PeptideAtlasiQ14714.
PRIDEiQ14714.

PTM databases

iPTMnetiQ14714.
PhosphoSitePlusiQ14714.
SwissPalmiQ14714.

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

BgeeiENSG00000123096.
CleanExiHS_SSPN.
ExpressionAtlasiQ14714. baseline and differential.
GenevisibleiQ14714. HS.

Interactioni

Protein-protein interaction databases

BioGridi113755. 1 interactor.
MINTiMINT-4721894.
STRINGi9606.ENSP00000242729.

Structurei

3D structure databases

ProteinModelPortaliQ14714.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IK33. Eukaryota.
ENOG4111WM7. LUCA.
GeneTreeiENSGT00390000007747.
HOGENOMiHOG000065718.
HOVERGENiHBG005016.
InParanoidiQ14714.
OMAiAGIIVCV.
OrthoDBiEOG091G0MQZ.
PhylomeDBiQ14714.
TreeFamiTF332100.

Family and domain databases

InterProiIPR007237. CD20-like.
IPR030429. Sarcospan.
[Graphical view]
PANTHERiPTHR15260. PTHR15260. 1 hit.
PfamiPF04103. CD20. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q14714-1) [UniParc]FASTAAdd to basket
Also known as: SPN1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:243
Mass (Da):26,618
Last modified:October 1, 2000 - v3
Checksum:i0D6B24B9848253F9
GO
Isoform 2 (identifier: Q14714-2) [UniParc]FASTAAdd to basket
Also known as: SPN2

The sequence of this isoform differs from the canonical sequence as follows:
     108-218: Missing.

Show »
Length:132
Mass (Da):14,126
Checksum:i65539CE9E96797E6
GO
Isoform 3 (identifier: Q14714-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-103: Missing.

Note: No experimental confirmation available.
Show »
Length:140
Mass (Da):15,820
Checksum:i83EBCA15741F4F47
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti13Missing (PubMed:9395445).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051384186S → N.Corresponds to variant rs12313670dbSNPEnsembl.1
Natural variantiVAR_051385228V → I.Corresponds to variant rs12313736dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0463511 – 103Missing in isoform 3. 1 PublicationAdd BLAST103
Alternative sequenceiVSP_004431108 – 218Missing in isoform 2. 2 PublicationsAdd BLAST111

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.
CCDSiCCDS44850.1. [Q14714-3]
CCDS8707.1. [Q14714-1]
PIRiS57712.
RefSeqiNP_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]
UniGeneiHs.183428.
Hs.736914.

Genome annotation databases

EnsembliENST00000242729; ENSP00000242729; ENSG00000123096. [Q14714-1]
ENST00000422622; ENSP00000396087; ENSG00000123096. [Q14714-3]
ENST00000540266; ENSP00000442893; ENSG00000123096. [Q14714-3]
GeneIDi8082.
KEGGihsa:8082.
UCSCiuc001rhd.4. human. [Q14714-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS44850.1. [Q14714-3]
CCDS8707.1. [Q14714-1]
PIRiS57712.
RefSeqiNP_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]
UniGeneiHs.183428.
Hs.736914.

3D structure databases

ProteinModelPortaliQ14714.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113755. 1 interactor.
MINTiMINT-4721894.
STRINGi9606.ENSP00000242729.

PTM databases

iPTMnetiQ14714.
PhosphoSitePlusiQ14714.
SwissPalmiQ14714.

Polymorphism and mutation databases

BioMutaiSSPN.
DMDMi13431900.

Proteomic databases

PaxDbiQ14714.
PeptideAtlasiQ14714.
PRIDEiQ14714.

Protocols and materials databases

DNASUi8082.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000242729; ENSP00000242729; ENSG00000123096. [Q14714-1]
ENST00000422622; ENSP00000396087; ENSG00000123096. [Q14714-3]
ENST00000540266; ENSP00000442893; ENSG00000123096. [Q14714-3]
GeneIDi8082.
KEGGihsa:8082.
UCSCiuc001rhd.4. human. [Q14714-1]

Organism-specific databases

CTDi8082.
DisGeNETi8082.
GeneCardsiSSPN.
HGNCiHGNC:11322. SSPN.
MIMi601599. gene.
neXtProtiNX_Q14714.
OpenTargetsiENSG00000123096.
PharmGKBiPA36146.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK33. Eukaryota.
ENOG4111WM7. LUCA.
GeneTreeiENSGT00390000007747.
HOGENOMiHOG000065718.
HOVERGENiHBG005016.
InParanoidiQ14714.
OMAiAGIIVCV.
OrthoDBiEOG091G0MQZ.
PhylomeDBiQ14714.
TreeFamiTF332100.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000123096-MONOMER.

Miscellaneous databases

GenomeRNAii8082.
PROiQ14714.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123096.
CleanExiHS_SSPN.
ExpressionAtlasiQ14714. baseline and differential.
GenevisibleiQ14714. HS.

Family and domain databases

InterProiIPR007237. CD20-like.
IPR030429. Sarcospan.
[Graphical view]
PANTHERiPTHR15260. PTHR15260. 1 hit.
PfamiPF04103. CD20. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSSPN_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 136 of the entry and version 3 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.