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Protein Coding Gene : Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like

Primary Identifier  MGI:1921642 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  74392
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables beta-catenin binding activity. Acts upstream of or within several processes, including anterior neural tube closure; negative regulation of protein depolymerization; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cell-cell junction; cytoplasm; and cytoskeleton. Part of filamentous actin. Is expressed in 1st branchial arch maxillary component; branchial arch; eye; fronto-nasal process; and limb. Used to study Teebi hypertelorism syndrome 1 and cleft palate. Human ortholog(s) of this gene implicated in Teebi hypertelorism syndrome 1 and oblique facial clefting 1. Orthologous to human SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like).
PHENOTYPE: Homozygous knockout affects cranial neural crest cell migration, which causes neural tube closure defects and leads to embryonic lethality. [provided by MGI curators]
  • synonyms:
  • SPECC1-like,
  • Specc1l,
  • sperm antigen with calponin homology and coiled-coil domains 1-like,
  • Cytsa,
  • expressed sequence AI317249,
  • 4932439K10Rik,
  • MGI:1922253,
  • 4930470P14Rik,
  • mKIAA0376,
  • RIKEN cDNA 4930470P14 gene,
  • MGI:2444709,
  • RIKEN cDNA 9530057A13 gene,
  • RIKEN cDNA 4932439K10 gene,
  • 9530057A13Rik,
  • cytospin A,
  • MGI:2143573,
  • AI317249

Features --> Cross References

Genome

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0 Exons

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2 Involved In Mutations

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0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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