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Protein

Collagen alpha-1(VII) chain

Gene

COL7A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei2886 – 28872Reactive bondBy similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Protease inhibitor, Serine protease inhibitor

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1474244. Extracellular matrix organization.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-204005. COPII (Coat Protein 2) Mediated Vesicle Transport.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-2214320. Anchoring fibril formation.
R-HSA-3000157. Laminin interactions.
R-HSA-5694530. Cargo concentration in the ER.

Protein family/group databases

MEROPSiI02.967.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(VII) chain
Alternative name(s):
Long-chain collagen
Short name:
LC collagen
Gene namesi
Name:COL7A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:2214. COL7A1.

Subcellular locationi

GO - Cellular componenti

  • basement membrane Source: ProtInc
  • collagen type VII trimer Source: ProtInc
  • endoplasmic reticulum-Golgi intermediate compartment membrane Source: Reactome
  • endoplasmic reticulum lumen Source: Reactome
  • ER to Golgi transport vesicle Source: Reactome
  • extracellular region Source: Reactome
  • extracellular space Source: UniProtKB
  • Golgi membrane Source: GOC
Complete GO annotation...

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Epidermolysis bullosa acquisita (EBA) is an autoimmune acquired blistering skin disease resulting from autoantibodies to type VII collagen.

Epidermolysis bullosa dystrophica, autosomal dominant (DDEB)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations.
See also OMIM:131750
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1522 – 15221G → E in DDEB.
Corresponds to variant rs387906605 [ dbSNP | Ensembl ].
VAR_011162
Natural varianti1557 – 15571G → R in DDEB.
VAR_001812
Natural varianti1776 – 17761G → R in DDEB.
VAR_011167
Natural varianti2003 – 20031G → R in DDEB. 1 Publication
Corresponds to variant rs121912832 [ dbSNP | Ensembl ].
VAR_001815
Natural varianti2006 – 20061G → A in DDEB.
VAR_011170
Natural varianti2006 – 20061G → D in DDEB; interferes with collagen VII folding and secretion. 2 Publications
Corresponds to variant rs121912842 [ dbSNP | Ensembl ].
VAR_011171
Natural varianti2015 – 20151G → E in DDEB; interferes with collagen VII folding and secretion. 2 Publications
Corresponds to variant rs121912843 [ dbSNP | Ensembl ].
VAR_011174
Natural varianti2028 – 20281G → A in DDEB. 1 Publication
VAR_011175
Natural varianti2028 – 20281G → R in DDEB and EBP. 2 Publications
VAR_011176
Natural varianti2034 – 20341G → R in DDEB and EBDSC; interferes with collagen VII folding and secretion. 4 Publications
Corresponds to variant rs121912844 [ dbSNP | Ensembl ].
VAR_001818
Natural varianti2034 – 20341G → W in DDEB. 2 Publications
VAR_011178
Natural varianti2040 – 20401G → D in DDEB. 1 Publication
VAR_011180
Natural varianti2040 – 20401G → V in DDEB. 1 Publication
VAR_011181
Natural varianti2043 – 20431G → R in DDEB. 5 Publications
Corresponds to variant rs121912836 [ dbSNP | Ensembl ].
VAR_001820
Natural varianti2043 – 20431G → W in DDEB; localized type. 1 Publication
VAR_011182
Natural varianti2046 – 20461G → V in DDEB.
VAR_011183
Natural varianti2055 – 20551G → E in DDEB.
VAR_001822
Natural varianti2064 – 20641G → R in DDEB. 2 Publications
VAR_011184
Natural varianti2070 – 20701G → R in DDEB. 1 Publication
VAR_064997
Natural varianti2076 – 20761G → D in DDEB; also in recessive forms. 1 Publication
Corresponds to variant rs121912850 [ dbSNP | Ensembl ].
VAR_001826
Natural varianti2079 – 20791G → E in DDEB. 1 Publication
VAR_001827
Natural varianti2079 – 20791G → R in DDEB; associated with squamous cell carcinoma. 1 Publication
VAR_011185
Natural varianti2207 – 22071G → R in DDEB. 1 Publication
VAR_011188
Natural varianti2348 – 23481G → R in DDEB/RDEB; mild form. 1 Publication
VAR_011193
Natural varianti2713 – 27131G → D in DDEB. 1 Publication
Corresponds to variant rs369591910 [ dbSNP | Ensembl ].
VAR_011197
Natural varianti2791 – 27911R → W in DDEB.
Corresponds to variant rs142566193 [ dbSNP | Ensembl ].
VAR_011201
Epidermolysis bullosa dystrophica, autosomal recessive (RDEB)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata.
See also OMIM:226600
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti142 – 1421K → R in RDEB.
Corresponds to variant rs121912856 [ dbSNP | Ensembl ].
VAR_001809
Natural varianti595 – 5951P → L in RDEB.
Corresponds to variant rs2228561 [ dbSNP | Ensembl ].
VAR_001810
Natural varianti1277 – 12771P → L in RDEB.
Corresponds to variant rs35761247 [ dbSNP | Ensembl ].
VAR_001811
Natural varianti1347 – 13471G → R in RDEB; localized type; mild. 1 Publication
Corresponds to variant rs121912833 [ dbSNP | Ensembl ].
VAR_011160
Natural varianti1604 – 16041G → R in RDEB.
VAR_011163
Natural varianti1652 – 16521G → R in RDEB; mitis type. 1 Publication
VAR_011164
Natural varianti1703 – 17031G → E in RDEB.
Corresponds to variant rs770304825 [ dbSNP | Ensembl ].
VAR_011165
Natural varianti1772 – 17721R → W in RDEB.
VAR_011166
Natural varianti1782 – 17821G → R in RDEB; mitis type. 1 Publication
Corresponds to variant rs374718902 [ dbSNP | Ensembl ].
VAR_001813
Natural varianti1812 – 18121G → R in RDEB. 1 Publication
VAR_011169
Natural varianti1845 – 18451G → R in RDEB. 1 Publication
VAR_064994
Natural varianti1981 – 19811K → R in RDEB; mild form. 1 Publication
VAR_064995
Natural varianti2009 – 20091G → R in RDEB. 2 Publications
VAR_011173
Natural varianti2025 – 20251G → A in RDEB; mitis type. 1 Publication
Corresponds to variant rs766931219 [ dbSNP | Ensembl ].
VAR_001817
Natural varianti2031 – 20311G → S in RDEB; severe phenotype. 1 Publication
Corresponds to variant rs121912838 [ dbSNP | Ensembl ].
VAR_011177
Natural varianti2069 – 20691R → C in RDEB. 1 Publication
Corresponds to variant rs121912855 [ dbSNP | Ensembl ].
VAR_064996
Natural varianti2073 – 20731G → D in RDEB; mitis type. 1 Publication
VAR_001825
Natural varianti2132 – 21321G → D in RDEB.
Corresponds to variant rs755669902 [ dbSNP | Ensembl ].
VAR_011186
Natural varianti2192 – 21921G → S in RDEB.
VAR_011187
Natural varianti2221 – 22211G → A in RDEB. 1 Publication
VAR_064998
Natural varianti2263 – 22631G → V in RDEB.
VAR_011190
Natural varianti2287 – 22871G → R in RDEB; moderately severe phenotype when compound heterozygous with R-2316; leads to isolated toenail dystrophy when heterozygous with a normal allele. 1 Publication
Corresponds to variant rs121912839 [ dbSNP | Ensembl ].
VAR_011191
Natural varianti2296 – 22961G → E in RDEB. 1 Publication
VAR_064999
Natural varianti2316 – 23161G → R in RDEB; moderately severe phenotype when compound heterozygous with R-2287. 1 Publication
VAR_011192
Natural varianti2348 – 23481G → R in DDEB/RDEB; mild form. 1 Publication
VAR_011193
Natural varianti2366 – 23661G → S in RDEB; mitis type. 1 Publication
VAR_011194
Natural varianti2557 – 25571G → R in RDEB. 1 Publication
VAR_065000
Natural varianti2569 – 25691G → R in RDEB; severe and mitis type.
VAR_001830
Natural varianti2622 – 26221R → W in RDEB. 1 Publication
Corresponds to variant rs139318843 [ dbSNP | Ensembl ].
VAR_065001
Natural varianti2653 – 26531G → R in RDEB; mitis type.
Corresponds to variant rs121912851 [ dbSNP | Ensembl ].
VAR_001833
Natural varianti2671 – 26711G → V in RDEB.
VAR_001834
Natural varianti2674 – 26741G → D in RDEB.
VAR_011196
Natural varianti2674 – 26741G → R in RDEB; mitis type.
VAR_001835
Natural varianti2740 – 27401G → A in RDEB.
VAR_011199
Natural varianti2775 – 27751G → S in RDEB; mitis type. 1 Publication
VAR_011200
Epidermolysis bullosa dystrophica, Pasini type (P-DEB)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe, dominantly inherited form of dystrophic epidermolysis bullosa characterized by albopapuloid Pasini papule, dorsal extremity blistering, milia formation and red atrophic scarring after recurrent blisters.
See also OMIM:131750
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2037 – 20371G → E in P-DEB. 1 Publication
Corresponds to variant rs121912846 [ dbSNP | Ensembl ].
VAR_011179
Natural varianti2040 – 20401G → S in P-DEB. 1 Publication
Corresponds to variant rs121912829 [ dbSNP | Ensembl ].
VAR_001819
Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe most severe recessive form of dystrophic epidermolysis bullosa. It manifests with mutilating scarring, joint contractures, corneal erosions, esophagus structures, and propensity to formation of cutaneous squamous cell carcinomas leading to premature demise of the affected individuals.
See also OMIM:226600
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1982 – 19821G → W in HS-DEB. 1 Publication
VAR_001814
Natural varianti2008 – 20081R → C in HS-DEB; also in a milder localized type. 2 Publications
VAR_011172
Natural varianti2008 – 20081R → G in HS-DEB. 2 Publications
VAR_001816
Natural varianti2049 – 20491G → E in HS-DEB. 2 Publications
VAR_001821
Natural varianti2063 – 20631R → W in HS-DEB; also in a mild form. 3 Publications
Corresponds to variant rs121912849 [ dbSNP | Ensembl ].
VAR_001823
Natural varianti2575 – 25751G → R in HS-DEB; also in a mild form. 2 Publications
VAR_001831
Natural varianti2749 – 27491G → R in HS-DEB; also in a mild form.
Corresponds to variant rs121912853 [ dbSNP | Ensembl ].
VAR_001836
Natural varianti2798 – 27981M → K in HS-DEB; also in a mild form. 1 Publication
Corresponds to variant rs121912828 [ dbSNP | Ensembl ].
VAR_001837
Transient bullous dermolysis of the newborn (TBDN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionTBDN is a neonatal form of dystrophic epidermolysis bullosa characterized by sub-epidermal blisters, reduced or abnormal anchoring fibrils at the dermo-epidermal junction, and electron-dense inclusions in keratinocytes. TBDN heals spontaneously or strongly improves within the first months and years of life.
See also OMIM:131705
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1519 – 15191G → D in TBDN; compound heterozygous with E-2251; clinically silent when heterozygous with a normal allele. 2 Publications
Corresponds to variant rs121912835 [ dbSNP | Ensembl ].
VAR_011161
Natural varianti2251 – 22511G → E in TBDN; compound heterozygous with D-1519; leads to isolated toenail dystrophy when heterozygous with a normal allele. 1 Publication
Corresponds to variant rs121912834 [ dbSNP | Ensembl ].
VAR_011189
Epidermolysis bullosa dystrophica, pretibial type (PR-DEB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of dystrophic epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant.
See also OMIM:131850
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2623 – 26231G → C in PR-DEB; dominant. 1 Publication
Corresponds to variant rs121912831 [ dbSNP | Ensembl ].
VAR_001832
Epidermolysis bullosa dystrophica, Bart type (B-DEB)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails.
See also OMIM:132000
Epidermolysis bullosa pruriginosa (EBP)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA distinct clinical subtype of epidermolysis bullosa dystrophica. It is characterized by skin fragility, blistering, scar formation, intense pruritus and excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third decade of life. Inheritance can be autosomal dominant or recessive.
See also OMIM:604129
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1791 – 17911G → E in EBP. 1 Publication
VAR_011168
Natural varianti2028 – 20281G → R in DDEB and EBP. 2 Publications
VAR_011176
Natural varianti2242 – 22421G → R in EBP. 1 Publication
Corresponds to variant rs121912837 [ dbSNP | Ensembl ].
VAR_001828
Natural varianti2369 – 23691G → S in EBP. 1 Publication
VAR_011195
Natural varianti2713 – 27131G → R in EBP. 1 Publication
VAR_011198
Nail disorder, non-syndromic congenital, 8 (NDNC8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA nail disorder characterized by isolated toenail dystrophy. The nail changes are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge.
See also OMIM:607523
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1595 – 15951G → R in NDNC8. 1 Publication
Corresponds to variant rs121912840 [ dbSNP | Ensembl ].
VAR_015519
Natural varianti1815 – 18151G → R in NDNC8. 1 Publication
Corresponds to variant rs121912841 [ dbSNP | Ensembl ].
VAR_015520
Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa.
See also OMIM:131750
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2034 – 20341G → R in DDEB and EBDSC; interferes with collagen VII folding and secretion. 4 Publications
Corresponds to variant rs121912844 [ dbSNP | Ensembl ].
VAR_001818

Keywords - Diseasei

Disease mutation, Epidermolysis bullosa

Organism-specific databases

MalaCardsiCOL7A1.
MIMi131705. phenotype.
131750. phenotype.
131850. phenotype.
132000. phenotype.
226600. phenotype.
604129. phenotype.
607523. phenotype.
Orphaneti158673. Acral dystrophic epidermolysis bullosa.
89841. Centripetalis recessive dystrophic epidermolysis bullosa.
89843. Dystrophic epidermolysis bullosa pruriginosa.
158676. Dystrophic epidermolysis bullosa, nails only.
89839. Epidermolysis bullosa simplex superficialis.
231568. Generalized dominant dystrophic epidermolysis bullosa.
79410. Pretibial dystrophic epidermolysis bullosa.
79409. Recessive dystrophic epidermolysis bullosa inversa.
89842. Recessive dystrophic epidermolysis bullosa-generalized other.
79408. Severe generalized recessive dystrophic epidermolysis bullosa.
79411. Transient bullous dermolysis of the newborn.
PharmGKBiPA26730.

Polymorphism and mutation databases

BioMutaiCOL7A1.
DMDMi1345650.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1616Sequence analysisAdd
BLAST
Chaini17 – 29442928Collagen alpha-1(VII) chainPRO_0000005761Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi337 – 3371N-linked (GlcNAc...)Sequence analysis
Glycosylationi786 – 7861N-linked (GlcNAc...)Sequence analysis
Glycosylationi1109 – 11091N-linked (GlcNAc...)Sequence analysis
Modified residuei2167 – 216714-hydroxyproline1 Publication
Modified residuei2176 – 217614-hydroxyproline1 Publication
Modified residuei2185 – 218514-hydroxyproline1 Publication
Modified residuei2188 – 218814-hydroxyproline1 Publication
Modified residuei2625 – 262515-hydroxylysine; alternate1 Publication
Glycosylationi2625 – 26251O-linked (Gal...); alternate
Modified residuei2631 – 263115-hydroxylysine; alternate1 Publication
Glycosylationi2631 – 26311O-linked (Gal...); alternate
Disulfide bondi2634 – 2634InterchainPROSITE-ProRule annotation
Modified residuei2664 – 266414-hydroxyproline1 Publication
Modified residuei2667 – 266714-hydroxyproline1 Publication
Modified residuei2673 – 267314-hydroxyproline1 Publication
Disulfide bondi2802 – 2802InterchainPROSITE-ProRule annotation
Disulfide bondi2804 – 2804InterchainPROSITE-ProRule annotation
Disulfide bondi2876 ↔ 2929PROSITE-ProRule annotation
Disulfide bondi2885 ↔ 2912PROSITE-ProRule annotation
Disulfide bondi2904 ↔ 2925PROSITE-ProRule annotation

Post-translational modificationi

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

EPDiQ02388.
MaxQBiQ02388.
PaxDbiQ02388.
PeptideAtlasiQ02388.
PRIDEiQ02388.

PTM databases

iPTMnetiQ02388.
PhosphoSiteiQ02388.

Expressioni

Gene expression databases

BgeeiENSG00000114270.
CleanExiHS_COL7A1.
ExpressionAtlasiQ02388. baseline and differential.
GenevisibleiQ02388. HS.

Organism-specific databases

HPAiCAB016357.
HPA042420.

Interactioni

Subunit structurei

Homotrimer. Interacts with MIA3/TANGO1; facilitating its loading into transport carriers and subsequent secretion.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
MIA3Q5JRA62EBI-724237,EBI-2291868

Protein-protein interaction databases

BioGridi107691. 17 interactions.
IntActiQ02388. 14 interactions.
MINTiMINT-1390694.
STRINGi9606.ENSP00000332371.

Structurei

3D structure databases

ProteinModelPortaliQ02388.
SMRiQ02388. Positions 38-215, 233-1041, 1051-1225, 2876-2933.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini38 – 211174VWFA 1PROSITE-ProRule annotationAdd
BLAST
Domaini234 – 32996Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini330 – 41687Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini417 – 50791Fibronectin type-III 3PROSITE-ProRule annotationAdd
BLAST
Domaini510 – 59788Fibronectin type-III 4PROSITE-ProRule annotationAdd
BLAST
Domaini600 – 68788Fibronectin type-III 5PROSITE-ProRule annotationAdd
BLAST
Domaini688 – 77588Fibronectin type-III 6PROSITE-ProRule annotationAdd
BLAST
Domaini778 – 86689Fibronectin type-III 7PROSITE-ProRule annotationAdd
BLAST
Domaini869 – 95789Fibronectin type-III 8PROSITE-ProRule annotationAdd
BLAST
Domaini958 – 105194Fibronectin type-III 9PROSITE-ProRule annotationAdd
BLAST
Domaini1054 – 1229176VWFA 2PROSITE-ProRule annotationAdd
BLAST
Domaini2872 – 294473BPTI/Kunitz inhibitorPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni17 – 12531237Nonhelical region (NC1)Add
BLAST
Regioni1254 – 27841531Triple-helical regionAdd
BLAST
Regioni1254 – 1477224Interrupted collagenous regionAdd
BLAST
Regioni2785 – 2944160Nonhelical region (NC2)Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi1170 – 11723Cell attachment siteSequence analysis
Motifi1334 – 13363Cell attachment siteSequence analysis
Motifi2008 – 20103Cell attachment siteSequence analysis
Motifi2553 – 25553Cell attachment siteSequence analysis

Sequence similaritiesi

Contains 1 BPTI/Kunitz inhibitor domain.PROSITE-ProRule annotation
Contains 9 fibronectin type-III domains.PROSITE-ProRule annotation
Contains 2 VWFA domains.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00760000119000.
HOGENOMiHOG000111866.
HOVERGENiHBG051053.
InParanoidiQ02388.
KOiK16628.
OMAiDTEYTVH.
OrthoDBiEOG091G008X.
PhylomeDBiQ02388.
TreeFamiTF351645.

Family and domain databases

Gene3Di2.60.40.10. 9 hits.
3.40.50.410. 2 hits.
4.10.410.10. 1 hit.
InterProiIPR008160. Collagen.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR002223. Kunitz_BPTI.
IPR020901. Prtase_inh_Kunz-CS.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 15 hits.
PF00041. fn3. 8 hits.
PF00014. Kunitz_BPTI. 1 hit.
PF00092. VWA. 2 hits.
[Graphical view]
PRINTSiPR00759. BASICPTASE.
SMARTiSM00060. FN3. 9 hits.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 5 hits.
SSF53300. SSF53300. 2 hits.
SSF57362. SSF57362. 1 hit.
PROSITEiPS00280. BPTI_KUNITZ_1. 1 hit.
PS50279. BPTI_KUNITZ_2. 1 hit.
PS50853. FN3. 9 hits.
PS50234. VWFA. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q02388-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

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        10         20         30         40         50
MTLRLLVAAL CAGILAEAPR VRAQHRERVT CTRLYAADIV FLLDGSSSIG
60 70 80 90 100
RSNFREVRSF LEGLVLPFSG AASAQGVRFA TVQYSDDPRT EFGLDALGSG
110 120 130 140 150
GDVIRAIREL SYKGGNTRTG AAILHVADHV FLPQLARPGV PKVCILITDG
160 170 180 190 200
KSQDLVDTAA QRLKGQGVKL FAVGIKNADP EELKRVASQP TSDFFFFVND
210 220 230 240 250
FSILRTLLPL VSRRVCTTAG GVPVTRPPDD STSAPRDLVL SEPSSQSLRV
260 270 280 290 300
QWTAASGPVT GYKVQYTPLT GLGQPLPSER QEVNVPAGET SVRLRGLRPL
310 320 330 340 350
TEYQVTVIAL YANSIGEAVS GTARTTALEG PELTIQNTTA HSLLVAWRSV
360 370 380 390 400
PGATGYRVTW RVLSGGPTQQ QELGPGQGSV LLRDLEPGTD YEVTVSTLFG
410 420 430 440 450
RSVGPATSLM ARTDASVEQT LRPVILGPTS ILLSWNLVPE ARGYRLEWRR
460 470 480 490 500
ETGLEPPQKV VLPSDVTRYQ LDGLQPGTEY RLTLYTLLEG HEVATPATVV
510 520 530 540 550
PTGPELPVSP VTDLQATELP GQRVRVSWSP VPGATQYRII VRSTQGVERT
560 570 580 590 600
LVLPGSQTAF DLDDVQAGLS YTVRVSARVG PREGSASVLT VRREPETPLA
610 620 630 640 650
VPGLRVVVSD ATRVRVAWGP VPGASGFRIS WSTGSGPESS QTLPPDSTAT
660 670 680 690 700
DITGLQPGTT YQVAVSVLRG REEGPAAVIV ARTDPLGPVR TVHVTQASSS
710 720 730 740 750
SVTITWTRVP GATGYRVSWH SAHGPEKSQL VSGEATVAEL DGLEPDTEYT
760 770 780 790 800
VHVRAHVAGV DGPPASVVVR TAPEPVGRVS RLQILNASSD VLRITWVGVT
810 820 830 840 850
GATAYRLAWG RSEGGPMRHQ ILPGNTDSAE IRGLEGGVSY SVRVTALVGD
860 870 880 890 900
REGTPVSIVV TTPPEAPPAL GTLHVVQRGE HSLRLRWEPV PRAQGFLLHW
910 920 930 940 950
QPEGGQEQSR VLGPELSSYH LDGLEPATQY RVRLSVLGPA GEGPSAEVTA
960 970 980 990 1000
RTESPRVPSI ELRVVDTSID SVTLAWTPVS RASSYILSWR PLRGPGQEVP
1010 1020 1030 1040 1050
GSPQTLPGIS SSQRVTGLEP GVSYIFSLTP VLDGVRGPEA SVTQTPVCPR
1060 1070 1080 1090 1100
GLADVVFLPH ATQDNAHRAE ATRRVLERLV LALGPLGPQA VQVGLLSYSH
1110 1120 1130 1140 1150
RPSPLFPLNG SHDLGIILQR IRDMPYMDPS GNNLGTAVVT AHRYMLAPDA
1160 1170 1180 1190 1200
PGRRQHVPGV MVLLVDEPLR GDIFSPIREA QASGLNVVML GMAGADPEQL
1210 1220 1230 1240 1250
RRLAPGMDSV QTFFAVDDGP SLDQAVSGLA TALCQASFTT QPRPEPCPVY
1260 1270 1280 1290 1300
CPKGQKGEPG EMGLRGQVGP PGDPGLPGRT GAPGPQGPPG SATAKGERGF
1310 1320 1330 1340 1350
PGADGRPGSP GRAGNPGTPG APGLKGSPGL PGPRGDPGER GPRGPKGEPG
1360 1370 1380 1390 1400
APGQVIGGEG PGLPGRKGDP GPSGPPGPRG PLGDPGPRGP PGLPGTAMKG
1410 1420 1430 1440 1450
DKGDRGERGP PGPGEGGIAP GEPGLPGLPG SPGPQGPVGP PGKKGEKGDS
1460 1470 1480 1490 1500
EDGAPGLPGQ PGSPGEQGPR GPPGAIGPKG DRGFPGPLGE AGEKGERGPP
1510 1520 1530 1540 1550
GPAGSRGLPG VAGRPGAKGP EGPPGPTGRQ GEKGEPGRPG DPAVVGPAVA
1560 1570 1580 1590 1600
GPKGEKGDVG PAGPRGATGV QGERGPPGLV LPGDPGPKGD PGDRGPIGLT
1610 1620 1630 1640 1650
GRAGPPGDSG PPGEKGDPGR PGPPGPVGPR GRDGEVGEKG DEGPPGDPGL
1660 1670 1680 1690 1700
PGKAGERGLR GAPGVRGPVG EKGDQGDPGE DGRNGSPGSS GPKGDRGEPG
1710 1720 1730 1740 1750
PPGPPGRLVD TGPGAREKGE PGDRGQEGPR GPKGDPGLPG APGERGIEGF
1760 1770 1780 1790 1800
RGPPGPQGDP GVRGPAGEKG DRGPPGLDGR SGLDGKPGAA GPSGPNGAAG
1810 1820 1830 1840 1850
KAGDPGRDGL PGLRGEQGLP GPSGPPGLPG KPGEDGKPGL NGKNGEPGDP
1860 1870 1880 1890 1900
GEDGRKGEKG DSGASGREGR DGPKGERGAP GILGPQGPPG LPGPVGPPGQ
1910 1920 1930 1940 1950
GFPGVPGGTG PKGDRGETGS KGEQGLPGER GLRGEPGSVP NVDRLLETAG
1960 1970 1980 1990 2000
IKASALREIV ETWDESSGSF LPVPERRRGP KGDSGEQGPP GKEGPIGFPG
2010 2020 2030 2040 2050
ERGLKGDRGD PGPQGPPGLA LGERGPPGPS GLAGEPGKPG IPGLPGRAGG
2060 2070 2080 2090 2100
VGEAGRPGER GERGEKGERG EQGRDGPPGL PGTPGPPGPP GPKVSVDEPG
2110 2120 2130 2140 2150
PGLSGEQGPP GLKGAKGEPG SNGDQGPKGD RGVPGIKGDR GEPGPRGQDG
2160 2170 2180 2190 2200
NPGLPGERGM AGPEGKPGLQ GPRGPPGPVG GHGDPGPPGA PGLAGPAGPQ
2210 2220 2230 2240 2250
GPSGLKGEPG ETGPPGRGLT GPTGAVGLPG PPGPSGLVGP QGSPGLPGQV
2260 2270 2280 2290 2300
GETGKPGAPG RDGASGKDGD RGSPGVPGSP GLPGPVGPKG EPGPTGAPGQ
2310 2320 2330 2340 2350
AVVGLPGAKG EKGAPGGLAG DLVGEPGAKG DRGLPGPRGE KGEAGRAGEP
2360 2370 2380 2390 2400
GDPGEDGQKG APGPKGFKGD PGVGVPGSPG PPGPPGVKGD LGLPGLPGAP
2410 2420 2430 2440 2450
GVVGFPGQTG PRGEMGQPGP SGERGLAGPP GREGIPGPLG PPGPPGSVGP
2460 2470 2480 2490 2500
PGASGLKGDK GDPGVGLPGP RGERGEPGIR GEDGRPGQEG PRGLTGPPGS
2510 2520 2530 2540 2550
RGERGEKGDV GSAGLKGDKG DSAVILGPPG PRGAKGDMGE RGPRGLDGDK
2560 2570 2580 2590 2600
GPRGDNGDPG DKGSKGEPGD KGSAGLPGLR GLLGPQGQPG AAGIPGDPGS
2610 2620 2630 2640 2650
PGKDGVPGIR GEKGDVGFMG PRGLKGERGV KGACGLDGEK GDKGEAGPPG
2660 2670 2680 2690 2700
RPGLAGHKGE MGEPGVPGQS GAPGKEGLIG PKGDRGFDGQ PGPKGDQGEK
2710 2720 2730 2740 2750
GERGTPGIGG FPGPSGNDGS AGPPGPPGSV GPRGPEGLQG QKGERGPPGE
2760 2770 2780 2790 2800
RVVGAPGVPG APGERGEQGR PGPAGPRGEK GEAALTEDDI RGFVRQEMSQ
2810 2820 2830 2840 2850
HCACQGQFIA SGSRPLPSYA ADTAGSQLHA VPVLRVSHAE EEERVPPEDD
2860 2870 2880 2890 2900
EYSEYSEYSV EEYQDPEAPW DSDDPCSLPL DEGSCTAYTL RWYHRAVTGS
2910 2920 2930 2940
TEACHPFVYG GCGGNANRFG TREACERRCP PRVVQSQGTG TAQD
Length:2,944
Mass (Da):295,220
Last modified:February 1, 1996 - v2
Checksum:i96D8BF6D0FD387DB
GO
Isoform 2 (identifier: Q02388-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1869-1900: Missing.

Show »
Length:2,912
Mass (Da):292,267
Checksum:iC206B8957E4333A2
GO

Sequence cautioni

The sequence BAA02853 differs from that shown. Reason: Frameshift at positions 275, 282, 476, 494, 523, 541 and 543. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti195 – 1973FFF → EFR in BAA02853 (PubMed:1567409).Curated
Sequence conflicti369 – 3713QQQ → EFR in AAA36357 (PubMed:1469284).Curated
Sequence conflicti369 – 3713QQQ → EFR in AAB24637 (PubMed:1469284).Curated
Sequence conflicti518 – 5192EL → DV in AAA36357 (PubMed:1469284).Curated
Sequence conflicti518 – 5192EL → DV in AAB24637 (PubMed:1469284).Curated
Sequence conflicti529 – 5291S → C in BAA02853 (PubMed:1567409).Curated
Sequence conflicti541 – 5411V → W in AAA36357 (PubMed:1469284).Curated
Sequence conflicti541 – 5411V → W in AAB24637 (PubMed:1469284).Curated
Sequence conflicti851 – 8511R → H in BAA02853 (PubMed:1567409).Curated
Sequence conflicti893 – 8931A → E in AAA58965 (PubMed:8088784).Curated
Sequence conflicti893 – 8931A → E in BAA02853 (PubMed:1567409).Curated
Sequence conflicti893 – 8931A → E in AAA96439 (PubMed:1871109).Curated
Sequence conflicti1122 – 11221R → L in BAA02853 (PubMed:1567409).Curated
Sequence conflicti1463 – 14642SP → LR AA sequence (PubMed:1307247).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti119 – 1191T → P in a breast cancer sample; somatic mutation. 1 Publication
VAR_035740
Natural varianti142 – 1421K → R in RDEB.
Corresponds to variant rs121912856 [ dbSNP | Ensembl ].
VAR_001809
Natural varianti547 – 5471V → F.
Corresponds to variant rs2229823 [ dbSNP | Ensembl ].
VAR_048765
Natural varianti595 – 5951P → L in RDEB.
Corresponds to variant rs2228561 [ dbSNP | Ensembl ].
VAR_001810
Natural varianti1120 – 11201R → K.
Corresponds to variant rs2228563 [ dbSNP | Ensembl ].
VAR_048766
Natural varianti1277 – 12771P → L in RDEB.
Corresponds to variant rs35761247 [ dbSNP | Ensembl ].
VAR_001811
Natural varianti1347 – 13471G → R in RDEB; localized type; mild. 1 Publication
Corresponds to variant rs121912833 [ dbSNP | Ensembl ].
VAR_011160
Natural varianti1364 – 13641P → T in a breast cancer sample; somatic mutation. 1 Publication
VAR_035741
Natural varianti1366 – 13661R → W in a breast cancer sample; somatic mutation. 1 Publication
Corresponds to variant rs147089666 [ dbSNP | Ensembl ].
VAR_035742
Natural varianti1519 – 15191G → D in TBDN; compound heterozygous with E-2251; clinically silent when heterozygous with a normal allele. 2 Publications
Corresponds to variant rs121912835 [ dbSNP | Ensembl ].
VAR_011161
Natural varianti1522 – 15221G → E in DDEB.
Corresponds to variant rs387906605 [ dbSNP | Ensembl ].
VAR_011162
Natural varianti1557 – 15571G → R in DDEB.
VAR_001812
Natural varianti1595 – 15951G → R in NDNC8. 1 Publication
Corresponds to variant rs121912840 [ dbSNP | Ensembl ].
VAR_015519
Natural varianti1604 – 16041G → R in RDEB.
VAR_011163
Natural varianti1652 – 16521G → R in RDEB; mitis type. 1 Publication
VAR_011164
Natural varianti1703 – 17031G → E in RDEB.
Corresponds to variant rs770304825 [ dbSNP | Ensembl ].
VAR_011165
Natural varianti1772 – 17721R → W in RDEB.
VAR_011166
Natural varianti1776 – 17761G → R in DDEB.
VAR_011167
Natural varianti1782 – 17821G → R in RDEB; mitis type. 1 Publication
Corresponds to variant rs374718902 [ dbSNP | Ensembl ].
VAR_001813
Natural varianti1791 – 17911G → E in EBP. 1 Publication
VAR_011168
Natural varianti1812 – 18121G → R in RDEB. 1 Publication
VAR_011169
Natural varianti1815 – 18151G → R in NDNC8. 1 Publication
Corresponds to variant rs121912841 [ dbSNP | Ensembl ].
VAR_015520
Natural varianti1845 – 18451G → R in RDEB. 1 Publication
VAR_064994
Natural varianti1981 – 19811K → R in RDEB; mild form. 1 Publication
VAR_064995
Natural varianti1982 – 19821G → W in HS-DEB. 1 Publication
VAR_001814
Natural varianti2003 – 20031G → R in DDEB. 1 Publication
Corresponds to variant rs121912832 [ dbSNP | Ensembl ].
VAR_001815
Natural varianti2006 – 20061G → A in DDEB.
VAR_011170
Natural varianti2006 – 20061G → D in DDEB; interferes with collagen VII folding and secretion. 2 Publications
Corresponds to variant rs121912842 [ dbSNP | Ensembl ].
VAR_011171
Natural varianti2008 – 20081R → C in HS-DEB; also in a milder localized type. 2 Publications
VAR_011172
Natural varianti2008 – 20081R → G in HS-DEB. 2 Publications
VAR_001816
Natural varianti2009 – 20091G → R in RDEB. 2 Publications
VAR_011173
Natural varianti2015 – 20151G → E in DDEB; interferes with collagen VII folding and secretion. 2 Publications
Corresponds to variant rs121912843 [ dbSNP | Ensembl ].
VAR_011174
Natural varianti2025 – 20251G → A in RDEB; mitis type. 1 Publication
Corresponds to variant rs766931219 [ dbSNP | Ensembl ].
VAR_001817
Natural varianti2028 – 20281G → A in DDEB. 1 Publication
VAR_011175
Natural varianti2028 – 20281G → R in DDEB and EBP. 2 Publications
VAR_011176
Natural varianti2031 – 20311G → S in RDEB; severe phenotype. 1 Publication
Corresponds to variant rs121912838 [ dbSNP | Ensembl ].
VAR_011177
Natural varianti2034 – 20341G → R in DDEB and EBDSC; interferes with collagen VII folding and secretion. 4 Publications
Corresponds to variant rs121912844 [ dbSNP | Ensembl ].
VAR_001818
Natural varianti2034 – 20341G → W in DDEB. 2 Publications
VAR_011178
Natural varianti2037 – 20371G → E in P-DEB. 1 Publication
Corresponds to variant rs121912846 [ dbSNP | Ensembl ].
VAR_011179
Natural varianti2040 – 20401G → D in DDEB. 1 Publication
VAR_011180
Natural varianti2040 – 20401G → S in P-DEB. 1 Publication
Corresponds to variant rs121912829 [ dbSNP | Ensembl ].
VAR_001819
Natural varianti2040 – 20401G → V in DDEB. 1 Publication
VAR_011181
Natural varianti2043 – 20431G → R in DDEB. 5 Publications
Corresponds to variant rs121912836 [ dbSNP | Ensembl ].
VAR_001820
Natural varianti2043 – 20431G → W in DDEB; localized type. 1 Publication
VAR_011182
Natural varianti2046 – 20461G → V in DDEB.
VAR_011183
Natural varianti2049 – 20491G → E in HS-DEB. 2 Publications
VAR_001821
Natural varianti2055 – 20551G → E in DDEB.
VAR_001822
Natural varianti2063 – 20631R → W in HS-DEB; also in a mild form. 3 Publications
Corresponds to variant rs121912849 [ dbSNP | Ensembl ].
VAR_001823
Natural varianti2064 – 20641G → R in DDEB. 2 Publications
VAR_011184
Natural varianti2069 – 20691R → C in RDEB. 1 Publication
Corresponds to variant rs121912855 [ dbSNP | Ensembl ].
VAR_064996
Natural varianti2070 – 20701G → R in DDEB. 1 Publication
VAR_064997
Natural varianti2073 – 20731G → D in RDEB; mitis type. 1 Publication
VAR_001825
Natural varianti2076 – 20761G → D in DDEB; also in recessive forms. 1 Publication
Corresponds to variant rs121912850 [ dbSNP | Ensembl ].
VAR_001826
Natural varianti2079 – 20791G → E in DDEB. 1 Publication
VAR_001827
Natural varianti2079 – 20791G → R in DDEB; associated with squamous cell carcinoma. 1 Publication
VAR_011185
Natural varianti2132 – 21321G → D in RDEB.
Corresponds to variant rs755669902 [ dbSNP | Ensembl ].
VAR_011186
Natural varianti2192 – 21921G → S in RDEB.
VAR_011187
Natural varianti2207 – 22071G → R in DDEB. 1 Publication
VAR_011188
Natural varianti2221 – 22211G → A in RDEB. 1 Publication
VAR_064998
Natural varianti2242 – 22421G → R in EBP. 1 Publication
Corresponds to variant rs121912837 [ dbSNP | Ensembl ].
VAR_001828
Natural varianti2251 – 22511G → E in TBDN; compound heterozygous with D-1519; leads to isolated toenail dystrophy when heterozygous with a normal allele. 1 Publication
Corresponds to variant rs121912834 [ dbSNP | Ensembl ].
VAR_011189
Natural varianti2263 – 22631G → V in RDEB.
VAR_011190
Natural varianti2287 – 22871G → R in RDEB; moderately severe phenotype when compound heterozygous with R-2316; leads to isolated toenail dystrophy when heterozygous with a normal allele. 1 Publication
Corresponds to variant rs121912839 [ dbSNP | Ensembl ].
VAR_011191
Natural varianti2296 – 22961G → E in RDEB. 1 Publication
VAR_064999
Natural varianti2316 – 23161G → R in RDEB; moderately severe phenotype when compound heterozygous with R-2287. 1 Publication
VAR_011192
Natural varianti2348 – 23481G → R in DDEB/RDEB; mild form. 1 Publication
VAR_011193
Natural varianti2351 – 23511G → R in a patient with dystrophic epidermolysis bullosa; mitis type.
Corresponds to variant rs1800013 [ dbSNP | Ensembl ].
VAR_001829
Natural varianti2366 – 23661G → S in RDEB; mitis type. 1 Publication
VAR_011194
Natural varianti2369 – 23691G → S in EBP. 1 Publication
VAR_011195
Natural varianti2429 – 24291P → L.
Corresponds to variant rs2229822 [ dbSNP | Ensembl ].
VAR_033786
Natural varianti2557 – 25571G → R in RDEB. 1 Publication
VAR_065000
Natural varianti2569 – 25691G → R in RDEB; severe and mitis type.
VAR_001830
Natural varianti2575 – 25751G → R in HS-DEB; also in a mild form. 2 Publications
VAR_001831
Natural varianti2622 – 26221R → W in RDEB. 1 Publication
Corresponds to variant rs139318843 [ dbSNP | Ensembl ].
VAR_065001
Natural varianti2623 – 26231G → C in PR-DEB; dominant. 1 Publication
Corresponds to variant rs121912831 [ dbSNP | Ensembl ].
VAR_001832
Natural varianti2653 – 26531G → R in RDEB; mitis type.
Corresponds to variant rs121912851 [ dbSNP | Ensembl ].
VAR_001833
Natural varianti2671 – 26711G → V in RDEB.
VAR_001834
Natural varianti2674 – 26741G → D in RDEB.
VAR_011196
Natural varianti2674 – 26741G → R in RDEB; mitis type.
VAR_001835
Natural varianti2713 – 27131G → D in DDEB. 1 Publication
Corresponds to variant rs369591910 [ dbSNP | Ensembl ].
VAR_011197
Natural varianti2713 – 27131G → R in EBP. 1 Publication
VAR_011198
Natural varianti2740 – 27401G → A in RDEB.
VAR_011199
Natural varianti2749 – 27491G → R in HS-DEB; also in a mild form.
Corresponds to variant rs121912853 [ dbSNP | Ensembl ].
VAR_001836
Natural varianti2775 – 27751G → S in RDEB; mitis type. 1 Publication
VAR_011200
Natural varianti2791 – 27911R → W in DDEB.
Corresponds to variant rs142566193 [ dbSNP | Ensembl ].
VAR_011201
Natural varianti2798 – 27981M → K in HS-DEB; also in a mild form. 1 Publication
Corresponds to variant rs121912828 [ dbSNP | Ensembl ].
VAR_001837

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1869 – 190032Missing in isoform 2. CuratedVSP_024026Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L23982 Genomic DNA. Translation: AAA58965.1.
L02870 mRNA. Translation: AAA75438.1.
D13694 mRNA. Translation: BAA02853.1. Frameshift.
M96984 mRNA. Translation: AAA36357.2.
S51236 mRNA. Translation: AAB24637.1.
M65158 mRNA. Translation: AAA96439.1.
L06862 mRNA. Translation: AAA89196.1.
CCDSiCCDS2773.1. [Q02388-1]
PIRiA54849.
RefSeqiNP_000085.1. NM_000094.3. [Q02388-1]
XP_011531639.1. XM_011533337.1. [Q02388-1]
UniGeneiHs.476218.

Genome annotation databases

EnsembliENST00000328333; ENSP00000332371; ENSG00000114270. [Q02388-1]
GeneIDi1294.
KEGGihsa:1294.
UCSCiuc003ctz.3. human. [Q02388-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L23982 Genomic DNA. Translation: AAA58965.1.
L02870 mRNA. Translation: AAA75438.1.
D13694 mRNA. Translation: BAA02853.1. Frameshift.
M96984 mRNA. Translation: AAA36357.2.
S51236 mRNA. Translation: AAB24637.1.
M65158 mRNA. Translation: AAA96439.1.
L06862 mRNA. Translation: AAA89196.1.
CCDSiCCDS2773.1. [Q02388-1]
PIRiA54849.
RefSeqiNP_000085.1. NM_000094.3. [Q02388-1]
XP_011531639.1. XM_011533337.1. [Q02388-1]
UniGeneiHs.476218.

3D structure databases

ProteinModelPortaliQ02388.
SMRiQ02388. Positions 38-215, 233-1041, 1051-1225, 2876-2933.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107691. 17 interactions.
IntActiQ02388. 14 interactions.
MINTiMINT-1390694.
STRINGi9606.ENSP00000332371.

Protein family/group databases

MEROPSiI02.967.

PTM databases

iPTMnetiQ02388.
PhosphoSiteiQ02388.

Polymorphism and mutation databases

BioMutaiCOL7A1.
DMDMi1345650.

Proteomic databases

EPDiQ02388.
MaxQBiQ02388.
PaxDbiQ02388.
PeptideAtlasiQ02388.
PRIDEiQ02388.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328333; ENSP00000332371; ENSG00000114270. [Q02388-1]
GeneIDi1294.
KEGGihsa:1294.
UCSCiuc003ctz.3. human. [Q02388-1]

Organism-specific databases

CTDi1294.
GeneCardsiCOL7A1.
GeneReviewsiCOL7A1.
HGNCiHGNC:2214. COL7A1.
HPAiCAB016357.
HPA042420.
MalaCardsiCOL7A1.
MIMi120120. gene.
131705. phenotype.
131750. phenotype.
131850. phenotype.
132000. phenotype.
226600. phenotype.
604129. phenotype.
607523. phenotype.
neXtProtiNX_Q02388.
Orphaneti158673. Acral dystrophic epidermolysis bullosa.
89841. Centripetalis recessive dystrophic epidermolysis bullosa.
89843. Dystrophic epidermolysis bullosa pruriginosa.
158676. Dystrophic epidermolysis bullosa, nails only.
89839. Epidermolysis bullosa simplex superficialis.
231568. Generalized dominant dystrophic epidermolysis bullosa.
79410. Pretibial dystrophic epidermolysis bullosa.
79409. Recessive dystrophic epidermolysis bullosa inversa.
89842. Recessive dystrophic epidermolysis bullosa-generalized other.
79408. Severe generalized recessive dystrophic epidermolysis bullosa.
79411. Transient bullous dermolysis of the newborn.
PharmGKBiPA26730.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00760000119000.
HOGENOMiHOG000111866.
HOVERGENiHBG051053.
InParanoidiQ02388.
KOiK16628.
OMAiDTEYTVH.
OrthoDBiEOG091G008X.
PhylomeDBiQ02388.
TreeFamiTF351645.

Enzyme and pathway databases

ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1474244. Extracellular matrix organization.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-204005. COPII (Coat Protein 2) Mediated Vesicle Transport.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-2214320. Anchoring fibril formation.
R-HSA-3000157. Laminin interactions.
R-HSA-5694530. Cargo concentration in the ER.

Miscellaneous databases

ChiTaRSiCOL7A1. human.
GeneWikiiCollagen,_type_VII,_alpha_1.
GenomeRNAii1294.
PROiQ02388.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114270.
CleanExiHS_COL7A1.
ExpressionAtlasiQ02388. baseline and differential.
GenevisibleiQ02388. HS.

Family and domain databases

Gene3Di2.60.40.10. 9 hits.
3.40.50.410. 2 hits.
4.10.410.10. 1 hit.
InterProiIPR008160. Collagen.
IPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR002223. Kunitz_BPTI.
IPR020901. Prtase_inh_Kunz-CS.
IPR002035. VWF_A.
[Graphical view]
PfamiPF01391. Collagen. 15 hits.
PF00041. fn3. 8 hits.
PF00014. Kunitz_BPTI. 1 hit.
PF00092. VWA. 2 hits.
[Graphical view]
PRINTSiPR00759. BASICPTASE.
SMARTiSM00060. FN3. 9 hits.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 5 hits.
SSF53300. SSF53300. 2 hits.
SSF57362. SSF57362. 1 hit.
PROSITEiPS00280. BPTI_KUNITZ_1. 1 hit.
PS50279. BPTI_KUNITZ_2. 1 hit.
PS50853. FN3. 9 hits.
PS50234. VWFA. 2 hits.
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Entry informationi

Entry nameiCO7A1_HUMAN
AccessioniPrimary (citable) accession number: Q02388
Secondary accession number(s): Q14054, Q16507
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: February 1, 1996
Last modified: September 7, 2016
This is version 195 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.