ZFIN Gene: col17a1a

ZFIN ID: ZDB-GENE-090313-107

ZFIN ID: ZDB-GENE-090313-107

Gene Name:

collagen, type XVII, alpha 1a

Gene Symbol:

col17a1a

Sequence Ontology ID :

SO:0000704

Previous Names:

col17a1, col17a1b, si:ch211-281g13.3 (1)

Location:

Chr: 1 Mapping Details/Browsers

Nomenclature History

AUTOMATED DESCRIPTION

Predicted to have extracellular matrix structural constituent. Involved in epidermis development. Predicted to localize to the extracellular matrix and extracellular space. Human ortholog(s) of this ...

GENE EXPRESSION
All Expression Data:	5 figures from 3 publications
Wild-type Stages, Structures:	Hatching:Long-pec (48.0h-60.0h) to Adult (90d-730d, breeding adult)
	corneal epithelial cell epithelium hypodermis integument whole organism

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Allele	Type	Localization	Consequence	Mutagen	Suppliers
la021262Tg	Transgenic Insertion	Unknown	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
sa652	Point Mutation	Unknown	Premature Stop	ENU
sa7401	Point Mutation	Unknown	Missense	ENU
sa16045	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa19578	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa19579	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa19580	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa32763	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa39682	Point Mutation	Unknown	Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this)

Targeting reagents:

MO1-col17a1a (1)
MO2-col17a1a (1)

PHENOTYPE

Data:	3 figures from 2 publications
Observed in:	epidermis heart integument basement membrane integument pericardium post-vent region spinal cord whole organism yolk

DISEASE ASSOCIATED WITH col17a1a HUMAN ORTHOLOG

Disease Ontology Term	OMIM Term	OMIM Phenotype ID
junctional epidermolysis bullosa non-Herlitz type	Epidermolysis bullosa, junctional, localisata variant	226650
	Epidermolysis bullosa, junctional, non-Herlitz type	226650
	Epithelial recurrent erosion dystrophy	122400
	Epithelial recurrent erosion dystrophy	122400

DISEASE ASSOCIATED WITH col17a1a VIA EXPERIMENTAL MODELS No data available

GENE ONTOLOGY

Ontology	GO Term
Biological Process	epidermis development (more)
Cellular Component	integral component of membrane (more)
Molecular Function	extracellular matrix structural constituent (more)

GO Terms (all 7)

PROTEIN FAMILIES, DOMAINS AND SITES
InterPro:IPR008160 (1)	Pfam:PF01391 (1)

TRANSCRIPTS
Type	Name	Length (bp)	Analysis
mRNA	col17a1a-201 (1)	4745	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

GENE PRODUCT DESCRIPTION No description available

INTERACTIONS AND PATHWAYS

ANTIBODIESNo data available

PLASMIDSNo data available

CONSTRUCTS WITH SEQUENCES FROM col17a1a No data available

MARKER RELATIONSHIPS

col17a1aContained in:

[BAC] CH211-281G13 (1) (order this)

SEQUENCE INFORMATION

Type	Accession #	Length (bp/aa)	Analysis
RNA	RefSeq:NM_001145565 (1)		Select Tool ZFIN BLAST NCBI BLAST MegaBLAST Ensembl UCSC BLAT
Genomic	GenBank:BX321880 (1)	144139bp	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:B8A4S4 (1)	1408aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast
Sequence Clusters	UniGene:76578 (1)

Sequence Information (all 14)

OTHER col17a1a GENE PAGES

Alliance (1)

Gene:557257 (1)

VEGA:OTTDARG00000030023 (1)

Ensembl(GRCz11):ENSDARG00000069415 (2)

ORTHOLOGY for col17a1a (Chr: 1)

CITATIONS (21)

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