• Gene id: 23384

Gene Summary

• Gene Symbol: SPECC1L   Gene   UCSC   Ensembl
• Aliases: CYTSA, GBBB2, OBLFC1, TBHS
• Gene name: sperm antigen with calponin homology and coiled-coil domains 1 like
• Alternate names: cytospin-A, SPECC1-like protein, cytokinesis and spindle organization A, renal carcinoma antigen NY-REN-22,
• Gene location: 22q11.23 (81721303: 81701330)     Exons: 9     NC_000008.11
• Gene summary(Entrez): This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively splice
• OMIM: 614140

Protein Summary

• Protein general information: Q69YQ0  
  • Name: Cytospin A (Renal carcinoma antigen NY REN 22) (Sperm antigen with calponin homology and coiled coil domains 1 like) (SPECC1 like protein)
  • Length: 1117  
  • Mass: 124602
• Sequence:

  MKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKSSDDLLAGMAGGVTVTNGVKGK
  KSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQGANDMAL
  AKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEK
  SEKETIMAHQPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITP
  DNQSDGGGTLTSSVEGSAPGSVEDLLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSDDALDAPSSSESEGIP
  SIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEELQATLQELADLQQITQELNSENERLGEEKVILMESLC
  QQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARFEREQLLGVQQHLSNTLKMAEQ
  DNKEAQEMIGALKERSHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELYSIHNSG
  DKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSD
  LDEKETERSDMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKKLQDQKHDMEREIKTLHRRLREESAEWRQFQ
  ADLQTAVVIANDIKSEAQEEIGDLKRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGM
  GLSRRSSTSSEPTPTVKTLIKSFDSASQVPNPAAAAIPRTPLSPSPMKTPPAAAVSPMQRHSISGPISTSKPLTA
  LSDKRPNYGEIPVQEHLLRTSSASRPASLPRVPAMESAKTLSVSRRSSEEVKRDISAQEGASPASLMAMGTTSPQ
  LSLSSSPTASVTPTTRSRIREERKDPLSALAREYGGSKRNALLKWCQKKTEGYQNIDITNFSSSWNDGLAFCALL
  HTYLPAHIPYQELNSQDKRRNFMLAFQAAESVGIKSTLDINEMVRTERPDWQNVMLYVTAIYKYFET

• Structural information:
  • Protein Domains: (1011..111-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044"-)
  • Interpro: IPR001715  IPR036872  IPR040166  
  • Prosite: PS50021
  • CDD: cd00014
  • DIP: 33173
  • STRING: ENSP00000325785
• Other Databases: GeneCards:  SPECC1L  Malacards:  SPECC1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005815	microtubule organizing center	IBA	cellular component
GO:0031941	filamentous actin	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0007155	cell adhesion	IDA	biological process
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:0005921	gap junction	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component

Diseases

Associated diseases	References
Opitz-GBBB syndrome	KEGG:H00583
Oblique facial cleft	KEGG:H02202
Opitz-GBBB syndrome	KEGG:H00583
Oblique facial cleft	KEGG:H02202
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)