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 type II 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	Havana	3722 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	specc1lb-202 (1) Ensembl	Havana	317 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	specc1lb-203 (1) Ensembl	Ensembl	2847 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