Gene

specc1lb

ID

ZDB-GENE-090423-1

Name

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

Symbol

specc1lb Nomenclature History

Previous Names

cytsab

Type

protein_coding_gene

Location

Chr: 21 Mapping Details/Browsers

Description

Involved in frontonasal suture morphogenesis. Predicted to localize to filamentous actin and microtubule organizing center. Used to study orofacial cleft. 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

Comparative Information

Expression

All Expression Data

1 figure from Gfrerer et al., 2014

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 5 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With specc1lb 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 specc1lb Via Experimental Models

Human Disease	Fish	Conditions	Citations
orofacial cleft	zf393Tg + MO2-specc1lb	standard conditions	Gfrerer et al., 2014
orofacial cleft	WT + MO2-specc1lb	standard conditions	Gfrerer et al., 2014

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	Length	Calponin homology domain	CH domain superfamily	F-actin Monooxygenase Mical
UniProtKB:A0A8M9PD49 InterPro	1146
UniProtKB:A0A8M9PIS7 InterPro	1145
UniProtKB:E7FG55 InterPro	1121

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	specc1lb-201 (1) Ensembl	Ensembl	3,722 nt	Select Tool
mRNA	specc1lb-202 (1) Ensembl	Ensembl	317 nt	Select Tool
mRNA	specc1lb-203 (1) Ensembl	Ensembl	2,847 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