Col7a1 collagen type VII alpha 1 chain [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Col7a1provided by RGD
Official Full Name: collagen type VII alpha 1 chainprovided by RGD
Primary source: RGD:1311417
See related: EnsemblRapid:ENSRNOG00000020579 AllianceGenome:RGD:1311417
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable identical protein binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in endodermal cell differentiation and extracellular matrix organization. Predicted to be located in basement membrane. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in epidermolysis bullosa dystrophica (multiple) and nonsyndromic congenital nail disorder 8. Orthologous to human COL7A1 (collagen type VII alpha 1 chain). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Uterus (RPKM 26.9), Adrenal (RPKM 21.9) and 8 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 8q32

Exon count:: 118

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	8	NC_086026.1 (118483364..118515736)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	8	NC_051343.1 (109604877..109637249)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	8	NC_005107.4 (117694441..117726844)

Chromosome 8 - NC_086026.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A spontaneous glycine to aspartic acid substitution, p.G1867D, within the main structural domain of collagen VII is associated with dominant dystrophic epidermolysis bullosa.
Title: Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect.

Submit: New GeneRIF Correction

General gene information

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Markers

AW209154 (e-PCR)
- UniSTS:179978

Tbxas1 (e-PCR), detects polymorphism
- UniSTS:265585

BI277776 (e-PCR)
- UniSTS:243851

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent conferring tensile strength	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in endodermal cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in basement membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in basement membrane	ISO Inferred from Sequence Orthology more info
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: collagen alpha-1(VII) chain

Names: collagen, type VII, alpha 1; procollagen, type VII, alpha 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001106858.2 → NP_001100328.2 collagen alpha-1(VII) chain precursor

Status: VALIDATED

Source sequence(s)

JAXUCZ010000008

UniProtKB/TrEMBL

D3ZE04

Related

ENSRNOP00000027994.7, ENSRNOT00000027994.8

Conserved Domains (9) summary

PHA03169
Location:2053 → 2202

PHA03169; hypothetical protein; Provisional

PRK07764
Location:1509 → 1714

PRK07764; DNA polymerase III subunits gamma and tau; Validated

PRK12678
Location:2403 → 2636

PRK12678; transcription termination factor Rho; Provisional

cd00063
Location:688 → 772

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd00109
Location:2877 → 2932

KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.

cd01482
Location:38 → 202

vWA_collagen_alphaI-XII-like; Collagen: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than 20 different ...

pfam00041
Location:236 → 318

fn3; Fibronectin type III domain

pfam00092
Location:1055 → 1223

VWA; von Willebrand factor type A domain

pfam01391
Location:1613 → 1668

Collagen; Collagen triple helix repeat (20 copies)