• Gene id: 64395

Gene Summary

• Gene Symbol: GMCL1   Gene   UCSC   Ensembl
• Aliases: BTBD13, GCL, GCL1, SPATA29
• Gene name: germ cell-less, spermatogenesis associated 1
• Alternate names: germ cell-less protein-like 1, germ cell-less homolog 1, spermatogenesis associated 29,
• Gene location: 2p13.3 (69829605: 69881395)     Exons: 16     NC_000002.12
• Gene summary(Entrez): This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-le
• OMIM: 0

Protein Summary

• Protein general information: Q96IK5  
  • Name: Germ cell less protein like 1
  • Length: 515  
  • Mass: 58,685
• Sequence:

  MGSLSSRVLRQPRPALAQQAQGARAGGSARRPDTGDDAAGHGFCYCAGSHKRKRSSGSFCYCHPDSETDEDEEEG
  DEQQRLLNTPRRKKLKSTSKYIYQTLFLNGENSDIKICALGEEWSLHKIYLCQSGYFSSMFSGSWKESSMNIIEL
  EIPDQNIDVEALQVAFGSLYRDDVLIKPSRVVAILAAACLLQLDGLIQQCGETMKETVNVKTVCGYYTSAGTYGL
  DSVKKKCLEWLLNNLMTHQNVELFKELSINVMKQLIGSSNLFVMQVEMDIYTALKKWMFLQLVPSWNGSLKQLLT
  ETDVWFSKQRKDFEGMAFLETEQGKPFVSVFRHLRLQYIISDLASARIIEQDAVVPSEWLSSVYKQQWFAMLRAE
  QDSEVGPQEINKEELEGNSMRCGRKLAKDGEYCWRWTGFNFGFDLLVTYTNRYIIFKRNTLNQPCSGSVSLQPRR
  SIAFRLRLASFDSSGKLICSRTTGYQILTLEKDQEQVVMNLDSRLLIFPLYICCNFLYISPEKKN

• Structural information:
  • Protein Domains: BTB. (108-178)
  • Interpro: IPR011705  IPR000210  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000282570
• Other Databases: GeneCards:  GMCL1  Malacards:  GMCL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005635	nuclear envelope	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0016363	nuclear matrix	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process

Diseases

Associated diseases	References
Male factor infertility	MIK: 12954656
Azoospermia	MIK: 12954656
Azoospermia	MIK: 12954656
Male infertility	MIK: 15700541
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
12954656	Azoospermia			67 azoospermic men	Male infertility
15700541	Multiple deformations during mgcl-1 deficient spermatogenesis leading to reduced fertility				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray