Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Collagen alpha-1(XVII) chain

Gene

COL17A1

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

Functioni

May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.
The 120 kDa linear IgA disease antigen is an anchoring filament component involved in dermal-epidermal cohesion. Is the target of linear IgA bullous dermatosis autoantibodies.

GO - Biological processi

  • cell-matrix adhesion Source: ProtInc
  • epidermis development Source: ProtInc
  • hemidesmosome assembly Source: UniProtKB
  • regulation of immune response Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-198933. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-446107. Type I hemidesmosome assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(XVII) chain
Alternative name(s):
180 kDa bullous pemphigoid antigen 2
Bullous pemphigoid antigen 2
Cleaved into the following 2 chains:
Alternative name(s):
120 kDa linear IgA dermatosis antigen
Linear IgA disease antigen 1
Short name:
LAD-1
Alternative name(s):
97 kDa linear IgA bullous dermatosis antigen
Short name:
97 kDa LAD antigen
Short name:
97-LAD
Linear IgA bullous disease antigen of 97 kDa
Short name:
LABD97
Gene namesi
Name:COL17A1
Synonyms:BP180, BPAG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:2194. COL17A1.

Subcellular locationi

120 kDa linear IgA disease antigen :
97 kDa linear IgA disease antigen :

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 467467CytoplasmicSequence analysisAdd
BLAST
Transmembranei468 – 48821Helical; Signal-anchor for type II membrane proteinSequence analysisAdd
BLAST
Topological domaini489 – 14971009ExtracellularSequence analysisAdd
BLAST

GO - Cellular componenti

  • basement membrane Source: UniProtKB-SubCell
  • cell-cell junction Source: ProtInc
  • collagen trimer Source: UniProtKB-KW
  • endoplasmic reticulum lumen Source: Reactome
  • extracellular region Source: Reactome
  • hemidesmosome Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Basement membrane, Cell junction, Extracellular matrix, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Generalized atrophic benign epidermolysis bullosa (GABEB)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.
See also OMIM:226650
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti265 – 2651S → C in GABEB. 1 Publication
VAR_017596
Natural varianti627 – 6271G → V in GABEB. 2 Publications
VAR_017598
Natural varianti633 – 6331G → D in GABEB. 1 Publication
Corresponds to variant rs121912773 [ dbSNP | Ensembl ].
VAR_017599
Natural varianti1303 – 13031R → Q in GABEB. 1 Publication
Corresponds to variant rs121912771 [ dbSNP | Ensembl ].
VAR_017601
Epithelial recurrent erosion dystrophy (ERED)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks.
See also OMIM:122400
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti939 – 9391T → I in ERED. 1 Publication
VAR_074627

Keywords - Diseasei

Disease mutation, Epidermolysis bullosa

Organism-specific databases

MalaCardsiCOL17A1.
MIMi122400. phenotype.
226650. phenotype.
Orphaneti79402. Generalized junctional epidermolysis bullosa, non-Herlitz type.
79406. Late-onset junctional epidermolysis bullosa.
251393. Localized junctional epidermolysis bullosa, non-Herlitz type.
PharmGKBiPA26710.

Protein family/group databases

Allergomei8213. Hom s BP180.

Polymorphism and mutation databases

BioMutaiCOL17A1.
DMDMi146345399.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 14971497Collagen alpha-1(XVII) chainPRO_0000059406Add
BLAST
Chaini524 – 1497974120 kDa linear IgA disease antigenPRO_0000342555Add
BLAST
Chaini531 – ?97 kDa linear IgA disease antigenPRO_0000342556

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei544 – 5441Phosphoserine; by CK21 Publication
Glycosylationi1421 – 14211N-linked (GlcNAc...)1 Publication

Post-translational modificationi

The intracellular/endo domain is disulfide-linked.
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
The ectodomain is shedded from the surface of keratinocytes resulting in a 120-kDa soluble form, also named as 120 kDa linear IgA disease antigen. The shedding is mediated by membrane-bound metalloproteases. This cleavage is inhibited by phosophorylation at Ser-544.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation, Phosphoprotein

Proteomic databases

EPDiQ9UMD9.
MaxQBiQ9UMD9.
PaxDbiQ9UMD9.
PeptideAtlasiQ9UMD9.
PRIDEiQ9UMD9.

PTM databases

iPTMnetiQ9UMD9.
PhosphoSiteiQ9UMD9.
SwissPalmiQ9UMD9.

Miscellaneous databases

PMAP-CutDBQ9UMD9.

Expressioni

Tissue specificityi

Detected in skin (PubMed:8618013). In the cornea, it is detected in the epithelial basement membrane, the epithelial cells, and at a lower level in stromal cells (at protein level) (PubMed:25676728). Stratified squamous epithelia. Found in hemidesmosomes. Expressed in cornea, oral mucosa, esophagus, intestine, kidney collecting ducts, ureter, bladder, urethra and thymus but is absent in lung, blood vessels, skeletal muscle and nerves.3 Publications

Gene expression databases

BgeeiENSG00000065618.
CleanExiHS_COL17A1.
ExpressionAtlasiQ9UMD9. baseline and differential.
GenevisibleiQ9UMD9. HS.

Organism-specific databases

HPAiHPA043673.
HPA052963.

Interactioni

Subunit structurei

Homotrimers of alpha 1(XVII)chains. Interacts (via cytoplasmic region) with ITGB4 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Interacts (via N-terminus) with PLEC. Interacts (via cytoplasmic region) with DSP.3 Publications

Protein-protein interaction databases

BioGridi107704. 8 interactions.
IntActiQ9UMD9. 1 interaction.
MINTiMINT-119869.
STRINGi9606.ENSP00000340937.

Structurei

3D structure databases

ProteinModelPortaliQ9UMD9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 566566Nonhelical region (NC16)Add
BLAST
Regioni145 – 23086Necessary for interaction with DST and for the recruitment of DST to hemidesmosomeAdd
BLAST
Regioni567 – 1482916Triple-helical regionAdd
BLAST
Regioni1483 – 149715Nonhelical region (NC1)Add
BLAST

Keywords - Domaini

Collagen, Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG41103C3. LUCA.
GeneTreeiENSGT00820000126981.
HOGENOMiHOG000111885.
HOVERGENiHBG051065.
InParanoidiQ9UMD9.
KOiK07603.
OMAiKDCKFLI.
OrthoDBiEOG091G025Z.
PhylomeDBiQ9UMD9.
TreeFamiTF332289.

Family and domain databases

InterProiIPR008160. Collagen.
[Graphical view]
PfamiPF01391. Collagen. 3 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: Q9UMD9-1) [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.

« Hide

        10         20         30         40         50
MDVTKKNKRD GTEVTERIVT ETVTTRLTSL PPKGGTSNGY AKTASLGGGS
60 70 80 90 100
RLEKQSLTHG SSGYINSTGS TRGHASTSSY RRAHSPASTL PNSPGSTFER
110 120 130 140 150
KTHVTRHAYE GSSSGNSSPE YPRKEFASSS TRGRSQTRES EIRVRLQSAS
160 170 180 190 200
PSTRWTELDD VKRLLKGSRS ASVSPTRNSS NTLPIPKKGT VETKIVTASS
210 220 230 240 250
QSVSGTYDAT ILDANLPSHV WSSTLPAGSS MGTYHNNMTT QSSSLLNTNA
260 270 280 290 300
YSAGSVFGVP NNMASCSPTL HPGLSTSSSV FGMQNNLAPS LTTLSHGTTT
310 320 330 340 350
TSTAYGVKKN MPQSPAAVNT GVSTSAACTT SVQSDDLLHK DCKFLILEKD
360 370 380 390 400
NTPAKKEMEL LIMTKDSGKV FTASPASIAA TSFSEDTLKK EKQAAYNADS
410 420 430 440 450
GLKAEANGDL KTVSTKGKTT TADIHSYGSS GGGGSGGGGG VGGAGGGPWG
460 470 480 490 500
PAPAWCPCGS CCSWWKWLLG LLLTWLLLLG LLFGLIALAE EVRKLKARVD
510 520 530 540 550
ELERIRRSIL PYGDSMDRIE KDRLQGMAPA AGADLDKIGL HSDSQEELWM
560 570 580 590 600
FVRKKLMMEQ ENGNLRGSPG PKGDMGSPGP KGDRGFPGTP GIPGPLGHPG
610 620 630 640 650
PQGPKGQKGS VGDPGMEGPM GQRGREGPMG PRGEAGPPGS GEKGERGAAG
660 670 680 690 700
EPGPHGPPGV PGSVGPKGSS GSPGPQGPPG PVGLQGLRGE VGLPGVKGDK
710 720 730 740 750
GPMGPPGPKG DQGEKGPRGL TGEPGMRGLP GAVGEPGAKG AMGPAGPDGH
760 770 780 790 800
QGPRGEQGLT GMPGIRGPPG PSGDPGKPGL TGPQGPQGLP GTPGRPGIKG
810 820 830 840 850
EPGAPGKIVT SEGSSMLTVP GPPGPPGAMG PPGPPGAPGP AGPAGLPGHQ
860 870 880 890 900
EVLNLQGPPG PPGPRGPPGP SIPGPPGPRG PPGEGLPGPP GPPGSFLSNS
910 920 930 940 950
ETFLSGPPGP PGPPGPKGDQ GPPGPRGHQG EQGLPGFSTS GSSSFGLNLQ
960 970 980 990 1000
GPPGPPGPQG PKGDKGDPGV PGALGIPSGP SEGGSSSTMY VSGPPGPPGP
1010 1020 1030 1040 1050
PGPPGSISSS GQEIQQYISE YMQSDSIRSY LSGVQGPPGP PGPPGPVTTI
1060 1070 1080 1090 1100
TGETFDYSEL ASHVVSYLRT SGYGVSLFSS SISSEDILAV LQRDDVRQYL
1110 1120 1130 1140 1150
RQYLMGPRGP PGPPGASGDG SLLSLDYAEL SSRILSYMSS SGISIGLPGP
1160 1170 1180 1190 1200
PGPPGLPGTS YEELLSLLRG SEFRGIVGPP GPPGPPGIPG NVWSSISVED
1210 1220 1230 1240 1250
LSSYLHTAGL SFIPGPPGPP GPPGPRGPPG VSGALATYAA ENSDSFRSEL
1260 1270 1280 1290 1300
ISYLTSPDVR SFIVGPPGPP GPQGPPGDSR LLSTDASHSR GSSSSSHSSS
1310 1320 1330 1340 1350
VRRGSSYSSS MSTGGGGAGS LGAGGAFGEA AGDRGPYGTD IGPGGGYGAA
1360 1370 1380 1390 1400
AEGGMYAGNG GLLGADFAGD LDYNELAVRV SESMQRQGLL QGMAYTVQGP
1410 1420 1430 1440 1450
PGQPGPQGPP GISKVFSAYS NVTADLMDFF QTYGAIQGPP GQKGEMGTPG
1460 1470 1480 1490
PKGDRGPAGP PGHPGPPGPR GHKGEKGDKG DQVYAGRRRR RSIAVKP
Length:1,497
Mass (Da):150,419
Last modified:May 1, 2007 - v3
Checksum:iE01027005F3AE843
GO
Isoform 2 (identifier: Q9UMD9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     922-966: Missing.
     1170-1207: GSEFRGIVGPPGPPGPPGIPGNVWSSISVEDLSSYLHT → A

Note: Gene prediction based on EST data.
Show »
Length:1,415
Mass (Da):142,344
Checksum:i51434477730EC017
GO

Sequence cautioni

The sequence AAA35605 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH04478 differs from that shown.Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti856 – 8561Q → P in AAA51839 (PubMed:1748679).Curated
Sequence conflicti905 – 9051S → F in AAA35605 (PubMed:1324962).Curated
Sequence conflicti905 – 9051S → F in AAB51499 (PubMed:9012408).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41T → A.
Corresponds to variant rs17116471 [ dbSNP | Ensembl ].
VAR_048781
Natural varianti210 – 2101T → M.1 Publication
Corresponds to variant rs805708 [ dbSNP | Ensembl ].
VAR_017593
Natural varianti231 – 2311M → I.2 Publications
Corresponds to variant rs1054113 [ dbSNP | Ensembl ].
VAR_017594
Natural varianti238 – 2381M → T.1 Publication
VAR_017595
Natural varianti265 – 2651S → C in GABEB. 1 Publication
VAR_017596
Natural varianti428 – 4281G → S.2 Publications
Corresponds to variant rs805698 [ dbSNP | Ensembl ].
VAR_017597
Natural varianti627 – 6271G → V in GABEB. 2 Publications
VAR_017598
Natural varianti633 – 6331G → D in GABEB. 1 Publication
Corresponds to variant rs121912773 [ dbSNP | Ensembl ].
VAR_017599
Natural varianti703 – 7031M → V.1 Publication
Corresponds to variant rs805722 [ dbSNP | Ensembl ].
VAR_017600
Natural varianti939 – 9391T → I in ERED. 1 Publication
VAR_074627
Natural varianti1303 – 13031R → Q in GABEB. 1 Publication
Corresponds to variant rs121912771 [ dbSNP | Ensembl ].
VAR_017601
Natural varianti1370 – 13701D → G.1 Publication
Corresponds to variant rs17116350 [ dbSNP | Ensembl ].
VAR_017602

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei922 – 96645Missing in isoform 2. CuratedVSP_024940Add
BLAST
Alternative sequencei1170 – 120738GSEFR…SYLHT → A in isoform 2. CuratedVSP_024941Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M91669 mRNA. Translation: AAA35605.1. Different initiation.
U76604
, U76565, U76566, U76567, U76568, U76569, U76570, U76571, U76572, U76573, U76574, U76575, U76576, U76577, U76578, U76579, U76580, U76581, U76582, U76583, U76584, U76585, U76586, U76587, U76588, U76589, U76590, U76591, U76592, U76593, U76594, U76595, U76596, U76597, U76598, U76599, U76600, U76601, U76602, U76603 Genomic DNA. Translation: AAB51499.1.
AL138761 Genomic DNA. Translation: CAC00589.1.
AL138761 Genomic DNA. Translation: CAI12398.1.
BC004478 mRNA. Translation: AAH04478.1. Sequence problems.
M63730 mRNA. Translation: AAA51839.1.
CCDSiCCDS7554.1. [Q9UMD9-1]
PIRiI56325. A61262.
RefSeqiNP_000485.3. NM_000494.3. [Q9UMD9-1]
UniGeneiHs.117938.
Hs.732773.

Genome annotation databases

EnsembliENST00000353479; ENSP00000340937; ENSG00000065618. [Q9UMD9-1]
ENST00000369733; ENSP00000358748; ENSG00000065618. [Q9UMD9-2]
GeneIDi1308.
KEGGihsa:1308.
UCSCiuc001kxr.4. human. [Q9UMD9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M91669 mRNA. Translation: AAA35605.1. Different initiation.
U76604
, U76565, U76566, U76567, U76568, U76569, U76570, U76571, U76572, U76573, U76574, U76575, U76576, U76577, U76578, U76579, U76580, U76581, U76582, U76583, U76584, U76585, U76586, U76587, U76588, U76589, U76590, U76591, U76592, U76593, U76594, U76595, U76596, U76597, U76598, U76599, U76600, U76601, U76602, U76603 Genomic DNA. Translation: AAB51499.1.
AL138761 Genomic DNA. Translation: CAC00589.1.
AL138761 Genomic DNA. Translation: CAI12398.1.
BC004478 mRNA. Translation: AAH04478.1. Sequence problems.
M63730 mRNA. Translation: AAA51839.1.
CCDSiCCDS7554.1. [Q9UMD9-1]
PIRiI56325. A61262.
RefSeqiNP_000485.3. NM_000494.3. [Q9UMD9-1]
UniGeneiHs.117938.
Hs.732773.

3D structure databases

ProteinModelPortaliQ9UMD9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107704. 8 interactions.
IntActiQ9UMD9. 1 interaction.
MINTiMINT-119869.
STRINGi9606.ENSP00000340937.

Protein family/group databases

Allergomei8213. Hom s BP180.

PTM databases

iPTMnetiQ9UMD9.
PhosphoSiteiQ9UMD9.
SwissPalmiQ9UMD9.

Polymorphism and mutation databases

BioMutaiCOL17A1.
DMDMi146345399.

Proteomic databases

EPDiQ9UMD9.
MaxQBiQ9UMD9.
PaxDbiQ9UMD9.
PeptideAtlasiQ9UMD9.
PRIDEiQ9UMD9.

Protocols and materials databases

DNASUi1308.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000353479; ENSP00000340937; ENSG00000065618. [Q9UMD9-1]
ENST00000369733; ENSP00000358748; ENSG00000065618. [Q9UMD9-2]
GeneIDi1308.
KEGGihsa:1308.
UCSCiuc001kxr.4. human. [Q9UMD9-1]

Organism-specific databases

CTDi1308.
GeneCardsiCOL17A1.
GeneReviewsiCOL17A1.
H-InvDBHIX0035327.
HGNCiHGNC:2194. COL17A1.
HPAiHPA043673.
HPA052963.
MalaCardsiCOL17A1.
MIMi113811. gene.
122400. phenotype.
226650. phenotype.
neXtProtiNX_Q9UMD9.
Orphaneti79402. Generalized junctional epidermolysis bullosa, non-Herlitz type.
79406. Late-onset junctional epidermolysis bullosa.
251393. Localized junctional epidermolysis bullosa, non-Herlitz type.
PharmGKBiPA26710.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG41103C3. LUCA.
GeneTreeiENSGT00820000126981.
HOGENOMiHOG000111885.
HOVERGENiHBG051065.
InParanoidiQ9UMD9.
KOiK07603.
OMAiKDCKFLI.
OrthoDBiEOG091G025Z.
PhylomeDBiQ9UMD9.
TreeFamiTF332289.

Enzyme and pathway databases

ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1650814. Collagen biosynthesis and modifying enzymes.
R-HSA-198933. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
R-HSA-2022090. Assembly of collagen fibrils and other multimeric structures.
R-HSA-446107. Type I hemidesmosome assembly.

Miscellaneous databases

GeneWikiiCollagen,_type_XVII,_alpha_1.
GenomeRNAii1308.
PMAP-CutDBQ9UMD9.
PROiQ9UMD9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000065618.
CleanExiHS_COL17A1.
ExpressionAtlasiQ9UMD9. baseline and differential.
GenevisibleiQ9UMD9. HS.

Family and domain databases

InterProiIPR008160. Collagen.
[Graphical view]
PfamiPF01391. Collagen. 3 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCOHA1_HUMAN
AccessioniPrimary (citable) accession number: Q9UMD9
Secondary accession number(s): Q02802
, Q5JV36, Q99018, Q9NQK9, Q9UC14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 2, 2004
Last sequence update: May 1, 2007
Last modified: September 7, 2016
This is version 148 of the entry and version 3 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

Miscellaneous

Both the 120 kDa linear IgA disease antigen and the 97 kDa linear IgA disease antigen of COL17A1, represent major antigenic targets of autoantibodies in patients with linear IgA disease (LAD). LAD is a subepidermal blistering disorder characterized by tissue-bound and circulating IgA autoantibodies to the dermal-epidermal junction. These IgA autoantibodies preferentially react with 97 and the 120 kDa forms, but not with the full-length COL17A1, suggesting that the cleavage of the ectodomain generates novel autoantigenic epitopes.

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: 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

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.