Gene

sass6

ID
ZDB-GENE-040426-2784
Name
SAS-6 centriolar assembly protein
Symbol
sass6 Nomenclature History
Previous Names
  • sas-6 (1)
  • cea
  • cellular atoll
  • wu:fb98c12 (1)
  • zgc:55668 (1)
Type
protein_coding_gene
Location
Chr: 22 Mapping Details/Browsers
Description
Involved in several processes, including embryonic cleavage; microtubule cytoskeleton organization; and spermatogenesis. Localizes to centrosome. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 14. Is expressed in blastomere and unfertilized egg. Orthologous to human SASS6 (SAS-6 centriolar assembly protein).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With sass6 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
primary autosomal recessive microcephaly 14 Alliance ?Microcephaly 14, primary, autosomal recessive 616402
Associated With sass6 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR032396 Spindle assembly abnormal protein 6, N-terminal
Domain IPR041513 SAS-6 coiled-coil domain
Homologous_superfamily IPR038558 SAS-6, N-terminal domain superfamily
Domain Details Per Protein
Protein Length SAS-6 coiled-coil domain SAS-6, N-terminal domain superfamily Spindle assembly abnormal protein 6, N-terminal
UniProtKB:Q1LV44 627
UniProtKB:Q7ZVT3 627
UniProtKB:B2GRL0 627
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations