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

Acts upstream of or within face morphogenesis. Predicted to be located in gap junction and spindle. Predicted to be part of filamentous actin. Predicted to be active in microtubule organizing center. 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).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7159316 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure 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
Teebi hypertelorism syndrome 1	Alliance	Teebi hypertelorism syndrome 1	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	IPR050540	F-actin Monooxygenase Mical
Homologous_superfamily	IPR036872	CH domain superfamily

Domain Details Per Protein

Protein	Additional Resources	Length	Calponin homology domain	CH domain superfamily	F-actin Monooxygenase Mical
UniProtKB:A0A286YBD4	InterPro	1132
UniProtKB:A0A8M3AV87	InterPro	1027
UniProtKB:Q2KN93	InterPro	1132

Transcripts

Genome Browsers

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	specc1la-201 (1) Ensembl	Ensembl		3,950 nt	Select Tool ZFIN BLAST
mRNA	specc1la-202 (1) Ensembl	Ensembl		7,167 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-specc1l	polyclonal	specc1la specc1lb		Rabbit	IHC		1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations