• Gene id: 6345

Gene Summary

• Gene Symbol: SRL   Gene   UCSC   Ensembl
• Aliases: SAR
• Gene name: sarcalumenin
• Alternate names: sarcalumenin,
• Gene location: 16p13.3 (23778416: 23788231)     Exons: 6     NC_000001.11
• OMIM: 604992

Protein Summary

• Protein general information: Q86TD4  
  • Name: Sarcalumenin
  • Length: 932  
  • Mass: 100788
• Sequence:

  MRALVLLGCLLASLLFSGQAELQVSASGGTEDVGNLLENHFSAGDASLEEKERALYADTAPQDKKLLLHYPDGRE
  AESPKKTPASAASAGPDPEASLSNASATESPPPGERDDRDAAGPGEEKNGPPVASALPPGGAKGPVEEEWPEPSS
  GEGQGEEETGFGLPTEGTASGEAGGQAGGHELPEEVQEVQGDSLVQGAVAGTAEPKAEGASPHSEGDGVGPLNAE
  AEGSPGPGEEPAVPEGAPDVAAVGGESEPDIDTQASEGTEDQGEPGPAAEASAEPGGAQSVKAGDTEESQAPEMT
  EEDADEASSEEESGDGSGSEEEGGVPSEEESEEDSGDGASSEEAEGASEEATEPQEAGEPQEAREPQEGGDLQEA
  EESQEGGDPQEAEEPQEGGAPQEGGEPQEGGDPQEAREPQEAREPQEGAELPEATGTTSHRDRGAQPGPEELNTE
  SMGSETLDMKAEEPEEGHQGRESPIIVAQEETEDANEEAPLRDRSHIEKTLMLNEDKPSDDYSAVLQRLRKIYHS
  SIKPLEQSYKYNELRQHEITDGEITSKPMVLFLGPWSVGKSTMINYLLGLENTRYQLYTGAEPTTSEFTVLMHGP
  KLKTIEGIVMAADSARSFSPLEKFGQNFLEKLIGIEVPHKLLERVTFVDTPGIIENRKQQERGYPFNDVCQWFID
  RADLIFVVFDPTKLDVGLELEMLFRQLKGRESQIRIILNKADNLATQMLMRVYGALFWSLAPLINVTEPPRVYVS
  SFWPQEYKPDTHQELFLQEEISLLEDLNQVIENRLENKIAFIRQHAIRVRIHALLVDRYLQTYKDKMTFFSDGEL
  VFKDIVEDPDKFYIFKTILAKTNVSKFDLPNREAYKDFFGINPISSFKLLSQQCSYMGGCFLEKIERAITQELPG
  LLGSLGLGKNPGALNCDKTGCSETPKNRYRKH

• Structural information:
  • Protein Domains: (549..79-)
    (/note="Dynamin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01055"-)
  • Interpro: IPR022812  IPR031692  IPR030381  IPR027417  
  • Prosite: PS51718
  • STRING: ENSP00000382518
• Other Databases: GeneCards:  SRL  Malacards:  SRL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0016197	endosomal transport	IBA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0033018	sarcoplasmic reticulum lumen	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq