Col17a1 MGI Mouse Gene Detail - MGI:88450 - collagen, type XVII, alpha 1

Col17a1 Gene Detail

Symbol

Col17a1
Name

collagen, type XVII, alpha 1
Synonyms

BP180, Bpag, Bpag2, BPAg2

Feature Type

protein coding gene
IDs

MGI:88450
NCBI Gene: 12821

Sequence Map

Chr19:47646344-47692094 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

45751 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 40.07 cM
Mapping Data

9 experiments

Human Ortholog

COL17A1, collagen type XVII alpha 1 chain

Vertebrate Orthologs

5

Human Ortholog

COL17A1, collagen type XVII alpha 1 chain
Orthology source: HGNC
Synonyms

BA16H23.2, BP180, BPA-2, BPAG2, ERED, LAD-1
Links

HGNC:2194

NCBI Gene ID: 1308

neXtProt AC: NX_Q9UMD9

UniProt: Q9UMD9
Chr Location

10q25.1; chr10:104031288-104085880 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 7276
1 mouse;1 rat;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: COL17A1
Gene Tree

Col17a1

Diseases

1 with Col17a1 mouse models; 1 with human COL17A1 associations

Human Disease

Mouse Models

junctional epidermolysis bullosa non-Herlitz type

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

32 phenotypes from 2 alleles in 3 genetic backgrounds
7 phenotypes from multigenic genotypes
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

4
Gene trapped

1
Targeted

2
Transgenic

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

25 strains or lines available

Mice homozygous for a knock-out allele are unable to reproduce and display postnatal growth retardation, blisters and erosion at sites of trauma, nonpigmented hair growth associated with hair loss, subepidermal blistering associated with poorly formed hemidesmosomes, and high postnatal lethality.

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All GO Annotations

9
GO References

3

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

118
Tissues

51
cDNA Data

33
Literature Summary

8

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase col17a1

ZFIN col17a1a, col17a1b

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Col17a1 interacts with 212 markers (Mir1b, Mir7-1, Mir7-2, ...) View All

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All Sequences

29
RefSeq

4
UniProt

1
CCDS

CCDS38018.1, CCDS70959.1
UniGene

1225

			Length	Strain/Species	Flank
genomic	OTTMUSG00000021388	VEGA Gene Model \| MGI Sequence Detail	45751	C57BL/6J	± kb
transcript	OTTMUST00000050702	VEGA \| MGI Sequence Detail	5588	Not Applicable
polypeptide	OTTMUSP00000023734	VEGA \| MGI Sequence Detail	1470	Not Applicable

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SNPs within 2kb

394 from dbSNP Build 142

RFLP

2

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UniProt

1 Sequence
Protein Ontology

PR:000005701 collagen alpha-1(XVII) chain

(term hierarchy)
InterPro Domains

IPR008160 Collagen triple helix repeat

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All nucleic 35

Genomic 1

cDNA 34

Microarray probesets 3

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MGD-MRK-1612, MGD-MRK-1614, MGD-MRK-2057

Summaries

All 55

Developmental Gene Expression 8

Diseases 1

Gene Ontology 3

Phenotypes 13
Earliest

J:7398 Harbers K, et al., Insertion of retrovirus into the first intron of alpha 1(I) collagen gene to embryonic lethal mutation in mice. Proc Natl Acad Sci U S A. 1984 Mar;81(5):1504-8
Latest

J:231543 Jackow J, et al., Collagen XVII Shedding Suppresses Re-Epithelialization by Directing Keratinocyte Migration and Dampening mTOR Signaling. J Invest Dermatol. 2016 May;136(5):1031-41

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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