Gene

specc1la

ID
ZDB-GENE-060810-139
Name
sperm antigen with calponin homology and coiled-coil domains 1-like a
Symbol
specc1la Nomenclature History
Previous Names
  • specc1l
  • cytsaa
  • im:7159316
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Involved in face morphogenesis. Predicted to localize to filamentous actin and microtubule organizing center. Human ortholog(s) of this gene implicated in Opitz-GBBB syndrome and oblique facial clefting 1. Orthologous to human SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like).
Genome Resources
Note
None
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
text only from Gfrerer et al., 2014
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With specc1la Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
oblique facial clefting 1 Alliance ?Facial clefting, oblique, 1 600251
Opitz GBBB syndrome type II Alliance Opitz GBBB syndrome, type II 145410
Hypertelorism, Teebi type 145420
Associated With specc1la Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001715 Calponin homology domain
Family IPR040166 Cytospin-A
Homologous_superfamily IPR036872 CH domain superfamily
Domain Details Per Protein
Protein Length Calponin homology domain CH domain superfamily Cytospin-A
UniProtKB:Q2KN93 1132
UniProtKB:A0A286YBD4 1132
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-specc1l polyclonal Rabbit
  • IHC
1
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations