Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
The repetin gene is a member of the "fused"gene family. It binds Ca2+ and is crosslinked to trichohyalin in the inner root sheath of mouse hair follicle [], and to loricrin, SPR1, and SPR2 in the human foreskin and oral mucosa [].In humans, a number of genes specifying structural proteins expressed late during epidermal differentiation have been identified and found to be clustered on chromosome 1q21. Therefore, this region is named the epidermal differentiation complex (EDC). The proteins encoded by the EDC genes can be classified into three groups: the precursor proteins of the CE, the S100 family and the "fused"gene family []. In some classification, the "fused gene"family is classified as a subgroup within the S100 gene family []. The "fused"gene family members contain EF hands and internal tandem repeats. It consists of profilaggrin, trichohyalin, repetin, hornerin, the profilaggrin-related protein and cornulin (encoded by c1orf10). They are associated with keratin intermediate filaments and partially cross-linked to the cell envelope (CE) []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Krieg P |
Year: |
1997 |
Journal: |
Genomics |
Title: |
Repetin (Rptn), a new member of the "fused gene" subgroup within the S100 gene family encoding a murine epidermal differentiation protein. |
Volume: |
43 |
Issue: |
3 |
Pages: |
339-48 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1118
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Huber M |
Year: |
2005 |
Journal: |
J Invest Dermatol |
Title: |
Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex. |
Volume: |
124 |
Issue: |
5 |
Pages: |
998-1007 |
|
•
•
•
•
•
|
Publication |
First Author: |
Steinert PM |
Year: |
2003 |
Journal: |
J Biol Chem |
Title: |
Trichohyalin mechanically strengthens the hair follicle: multiple cross-bridging roles in the inner root shealth. |
Volume: |
278 |
Issue: |
42 |
Pages: |
41409-19 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5704395 |
Assay Type: |
RT-PCR |
Annotation Date: |
2016-01-22 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3272524 |
|
Stage: |
TS24 |
Assay Id: |
MGI:5704485 |
Age: |
embryonic day 16.5 |
|
|
Specimen Label: |
qPCR E16.5 wt |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5704395 |
Assay Type: |
RT-PCR |
Annotation Date: |
2016-01-22 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3272524 |
|
Stage: |
TS24 |
Assay Id: |
MGI:5704485 |
Age: |
embryonic day 16.5 |
|
|
Specimen Label: |
qPCR E16.5 Fzd6-/- |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5704395 |
Assay Type: |
RT-PCR |
Annotation Date: |
2016-01-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3272522 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5705257 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
not shown E14.5 wt |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5704395 |
Assay Type: |
RT-PCR |
Annotation Date: |
2016-01-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3272522 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5705257 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
not shown E14.5 Fzd6-/- |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5704395 |
Assay Type: |
RT-PCR |
Annotation Date: |
2016-01-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3272526 |
|
Stage: |
TS26 |
Assay Id: |
MGI:5705257 |
Age: |
embryonic day 18.5 |
|
|
Specimen Label: |
not shown E18.5 wt |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5704395 |
Assay Type: |
RT-PCR |
Annotation Date: |
2016-01-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3272526 |
|
Stage: |
TS26 |
Assay Id: |
MGI:5705257 |
Age: |
embryonic day 18.5 |
|
|
Specimen Label: |
not shown E18.5 Fzd6-/- |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6363517 |
Assay Type: |
Northern blot |
Annotation Date: |
2019-10-15 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1752526 |
|
Stage: |
TS26 |
Assay Id: |
MGI:6363580 |
Age: |
embryonic day 18.5 |
|
|
Specimen Label: |
E18.5 mut |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6363517 |
Assay Type: |
Northern blot |
Annotation Date: |
2019-10-15 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1752526 |
|
Stage: |
TS26 |
Assay Id: |
MGI:6363580 |
Age: |
embryonic day 18.5 |
|
|
Specimen Label: |
E18.5 wt |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6363517 |
Assay Type: |
Northern blot |
Annotation Date: |
2019-10-15 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1752527 |
|
Stage: |
TS27 |
Assay Id: |
MGI:6363580 |
Age: |
postnatal newborn |
|
|
Specimen Label: |
newborn mut |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6363517 |
Assay Type: |
Northern blot |
Annotation Date: |
2019-10-15 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1752527 |
|
Stage: |
TS27 |
Assay Id: |
MGI:6363580 |
Age: |
postnatal newborn |
|
|
Specimen Label: |
newborn wt |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cui CY |
Year: |
2013 |
Journal: |
J Invest Dermatol |
Title: |
Frizzled6 deficiency disrupts the differentiation process of nail development. |
Volume: |
133 |
Issue: |
8 |
Pages: |
1990-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Koch PJ |
Year: |
2000 |
Journal: |
J Cell Biol |
Title: |
Lessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein. |
Volume: |
151 |
Issue: |
2 |
Pages: |
389-400 |
|
•
•
•
•
•
|
Publication |
First Author: |
Segre JA |
Year: |
1999 |
Journal: |
Nat Genet |
Title: |
Klf4 is a transcription factor required for establishing the barrier function of the skin. |
Volume: |
22 |
Issue: |
4 |
Pages: |
356-60 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang L |
Year: |
2016 |
Journal: |
PLoS One |
Title: |
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. |
Volume: |
11 |
Issue: |
8 |
Pages: |
e0161465 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cheng X |
Year: |
2004 |
Journal: |
Mol Cell Biol |
Title: |
Assessment of splice variant-specific functions of desmocollin 1 in the skin. |
Volume: |
24 |
Issue: |
1 |
Pages: |
154-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yu Z |
Year: |
2006 |
Journal: |
Dev Biol |
Title: |
The Grainyhead-like epithelial transactivator Get-1/Grhl3 regulates epidermal terminal differentiation and interacts functionally with LMO4. |
Volume: |
299 |
Issue: |
1 |
Pages: |
122-36 |
|
•
•
•
•
•
|
Publication |
First Author: |
Roth W |
Year: |
2012 |
Journal: |
J Cell Sci |
Title: |
Keratin 1 maintains skin integrity and participates in an inflammatory network in skin through interleukin-18. |
Volume: |
125 |
Issue: |
Pt 22 |
Pages: |
5269-79 |
|
•
•
•
•
•
|
Publication |
First Author: |
Miyai M |
Year: |
2016 |
Journal: |
J Invest Dermatol |
Title: |
Transcription Factor MafB Coordinates Epidermal Keratinocyte Differentiation. |
Volume: |
136 |
Issue: |
9 |
Pages: |
1848-57 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bebee TW |
Year: |
2015 |
Journal: |
Elife |
Title: |
The splicing regulators Esrp1 and Esrp2 direct an epithelial splicing program essential for mammalian development. |
Volume: |
4 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI and IMPC |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
MGI Curation of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Velocigene |
Year: |
2008 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
DDB, FB, MGI, GOA, ZFIN curators |
Year: |
2001 |
|
Title: |
Gene Ontology annotation through association of InterPro records with GO terms |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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|
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•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
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•
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•
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