• Gene id: 6707

Gene Summary

• Gene Symbol: SPRR3   Gene   UCSC   Ensembl
• Gene name: small proline rich protein 3
• Alternate names: small proline-rich protein 3, 22 kDa pancornulin, cornifin beta, esophagin,
• Gene location: 1q21.3 (153001746: 153003855)     Exons: 3     NC_000001.11
• OMIM: 182271

SNPs

rs3741843

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

Protein Summary

• Protein general information: Q9UBC9  
  • Name: Small proline rich protein 3 (22 kDa pancornulin) (Cornifin beta) (Esophagin)
  • Length: 169  
  • Mass: 18154
• Sequence:

  MSSYQQKQTFTPPPQLQQQQVKQPSQPPPQEIFVPTTKEPCHSKVPQPGNTKIPEPGCTKVPEPGCTKVPEPGCT
  KVPEPGCTKVPEPGCTKVPEPGCTKVPEPGYTKVPEPGSIKVPDQGFIKFPEPGAIKVPEQGYTKVPVPGYTKLP
  EPCPSTVTPGPAQQKTKQK

• Structural information:
  • Interpro: IPR026075  
  • STRING: ENSP00000330391
• Other Databases: GeneCards:  SPRR3  Malacards:  SPRR3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031424	keratinization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0001533	cornified envelope	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0070268	cornification	TAS	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042060	wound healing	TAS	biological process
GO:0005198	structural molecule activity	TAS	molecular function
GO:0008544	epidermis development	NAS	biological process
GO:0030216	keratinocyte differentiation	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881