sperm antigen with calponin homology and coiled-coil domains 1 like

Summary
Gene Symbol
  • SPECC1L
Organism
Homo sapiens (human)
NCBI Gene
23384
PubChem
23384
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cell division
  • Coiled coil
  • Cytoskeleton
  • Disease variant
  • Gap junction
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying all 2 entries
UniProt Protein Name
Q69YQ0
  • Renal carcinoma antigen NY-REN-22
  • Sperm antigen with calponin homology and coiled-coil domains 1-like
B2RMV2
Gene Ontology (GO)
OrthoDB (Group)
Group level
Eukaryota
Group Name
smoothelin
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying 1 entry
Gene Ontology
actin cytoskeleton organization
Displaying all 2 entries
InterPro
CH domain superfamily
Calponin homology domain
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0050567 orofacial cleft
DOID:0080698 Teebi hypertelorism syndrome 1
DOID:0111706 oblique facial clefting 1
DOID:674 cleft palate

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024