• Gene id: 10665

Gene Summary

• Gene Symbol: TSBP1   Gene   UCSC   Ensembl
• Aliases: C6orf10, TSBP
• Gene name: testis expressed basic protein 1
• Alternate names: testis-expressed basic protein 1, testis specific basic protein, uncharacterized protein C6orf10,
• Gene location: 6p21.32 (32371903: 32290522)     Exons: 29     NC_000006.12
• OMIM: 618151

SNPs

rs498422

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

NC_000006.12   g.32318984T>G
NC_000006.11   g.32286761T>G
NT_113891.3   g.3757457T>G
NT_113891.2   g.3757563T>G
NT_167248.2   g.3542362G>T
NT_167248.1   g.3547958G>T
NT_167245.2   g.3560446T>G
NT_167245.1   g.3566031T>G
NT_167249.2   g.3635248T>G
NT_167249.1   g.3634546

Protein Summary

• Protein general information: Q5SRN2  
  • Name: Testis expressed basic protein 1 (Uncharacterized protein C6orf10)
  • Length: 563  
  • Mass: 61626
• Sequence:

  MTVLEITLAVILTLLGLAILAILLTRWARCKQSEMYISRYSSEQSARLLDYEDGRGSRHAYSTQSDTSYDNRERS
  KRDYTPSTNSLVSMASKFSLGQTELILLLMCFILALSRSSIGSIKCLQTTEEPPSRTAGAMMQFTAPIPGATGPI
  KLSQKTIVQTPGPIVQYPGSNAGPPSAPRGPPMAPIIISQRTARIPQVHTMDSSGKITLTPVVILTGYMDEELAK
  KSCSKIQILKCGGTARSQNSREENKEALKNDIIFTNSVESLKSAHIKEPEREGKGTDLEKDKIGMEVKVDSDAGI
  PKRQETQLKISEMSIPQGQGAQIKKSVSDVPRGQESQVKKSESGVPKGQEAQVTKSGLVVLKGQEAQVEKSEMGV
  PRRQESQVKKSQSGVSKGQEAQVKKRESVVLKGQEAQVEKSELKVPKGQEGQVEKTEADVPKEQEVQEKKSEAGV
  LKGPESQVKNTEVSVPETLESQVKKSESGVLKGQEAQEKKESFEDKGNNDKEKERDAEKDPNKKEKGDKNTKGDK
  GKDKVKGKRESEINGEKSKGSKRAKANTGRKYNKKVEE

• Structural information:
  • Interpro: IPR038754  
  • STRING: ENSP00000415517
• Other Databases: GeneCards:  TSBP1  Malacards:  TSBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	HDA	cellular component

Diseases

Associated diseases	References
Sertoli cell only syndrome	MIK: 23869807
Non-obstructive azoospermia	MIK: 27597543
Spermatogenic defects	MIK: 31037746
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
27597543	Non-obstructive azoospermia	rs498422	Han Chi nese	1213 (603 non-obstructive azoospermia (NOA) patients, 610 controls)	Male infertility	GWAS
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R