• Gene id: 8796

Gene Summary

• Gene Symbol: SCEL   Gene   UCSC   Ensembl
• Gene name: sciellin
• Alternate names: sciellin,
• Gene location: 13q22.3 (77535673: 77645262)     Exons: 33     NC_000013.11
• Gene summary(Entrez): The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Tr
• OMIM: 604112

Protein Summary

• Protein general information: O95171  
  • Name: Sciellin
  • Length: 688  
  • Mass: 77552
  • Tissue specificity: Highly expressed in esophagus. It is also expressed in keratinocytes, amniotic tissue, foreskin stratum spinosum and stratum granulosum, hair follicle and nail.
• Sequence:

  MSNVTLRKMSPTGNEMKSTTQGTTRKQQDFHEVNKRRTFLQDNSWIKKRPEEEKDENYGRVVLNRHNSHDALDRK
  VNERDVPKATISRYSSDDTLDRISDRNDAAKTYKANTLDNQLTNRSMSMFRSLEVTKLQPGGSLNANTSNTIAST
  SATTPVKKKRQSWFPPPPPGYNASSSTGTRRREPGVHPPIPPKPSSPVSSPNQLRQDNRQIHPPKPGVYTETNRS
  AERNIRSQDLDNIVKVATSLQRSDKGEELDNLIKMNKSLNRNQGLDSLFRANPKVEEREKRAKSLESLIYMSTRT
  DKDGKGIQSLGSPIKVNQRTDKNEKGRQNLESVAKVNARMNKTSRRSEDLDNATEVNPKGHENTTGKKDLDGLIK
  VDPETNKNITRGQSLDNLIKVTPEVKRSNQGSKDLNNFIKVYPGTEKSTEGGQSLDSLIKVTPERNRTNQGNQDL
  ENLIKVIPSANKSSEQGLDEHINVSPKAVKNTDGKQDLDKLIKVNPEIFTNNQRNQDLANLIKVNPAVIRNNQSQ
  DLDNLIKVKPSALRNTNRDQNLENLIEVNSHVSENKNGSSNTGAKQAGPQDTVVYTRTYVENSKSPKDGYQENIS
  GKYIQTVYSTSDRSVIERDMCTYCRKPLGVETKMILDELQICCHSTCFKCEICKQPLENLQAGDSIWIYRQTIHC
  EPCYSKIMAKWIP

• Structural information:
  • Protein Domains: (619..68-)
    (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125"-)
  • Interpro: IPR001781  
  • Prosite: PS00478 PS50023
  • STRING: ENSP00000302579
• Other Databases: GeneCards:  SCEL  Malacards:  SCEL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0008544	epidermis development	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008544	epidermis development	IEA	biological process
GO:0009792	embryo development ending in birth or egg hatching	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0009612	response to mechanical stimulus	IEP	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030216	keratinocyte differentiation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0008544	epidermis development	TAS	biological process
GO:0008544	epidermis development	ISS	biological process
GO:0009792	embryo development ending in birth or egg hatching	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001533	cornified envelope	TAS	cellular component
GO:0005737	cytoplasm	ISS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R