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Protein

Ectodysplasin-A receptor-associated adapter protein

Gene

EDARADD

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

Functioni

Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation

Names & Taxonomyi

Protein namesi
Recommended name:
Ectodysplasin-A receptor-associated adapter protein
Alternative name(s):
EDAR-associated death domain protein
Protein crinkled homolog
Gene namesi
Name:EDARADD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:14341. EDARADD.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.

See also OMIM:614940
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti114 – 1141D → Y in ECTD11A. 1 Publication
VAR_064835
Natural varianti122 – 1221L → R in ECTD11A; severely impairs NF-kappa-B activation and acted in a dominant-negative manner. 1 Publication
VAR_054510
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.

See also OMIM:614941
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti135 – 1362Missing in ECTD11B; impairs the interaction with EDAR and severely inhibits NF-kappa-B activity. 1 Publication
VAR_064836
Natural varianti152 – 1521E → K in ECTD11B; may reduce binding to EDAR; impairs NF-kappa-B activation by about 50%. 2 Publications
VAR_013482

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

MIMi614940. phenotype.
614941. phenotype.
Orphaneti1810. Autosomal dominant hypohidrotic ectodermal dysplasia.
248. Autosomal recessive hypohidrotic ectodermal dysplasia.
99798. Oligodontia.
PharmGKBiPA27603.

Polymorphism and mutation databases

BioMutaiEDARADD.
DMDMi212276512.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 215215Ectodysplasin-A receptor-associated adapter proteinPRO_0000086928Add
BLAST

Proteomic databases

MaxQBiQ8WWZ3.
PaxDbiQ8WWZ3.
PRIDEiQ8WWZ3.

Expressioni

Tissue specificityi

Detected in adult pancreas, placenta and fetal skin, and at lower levels in lung, thymus, prostate and testis.

Gene expression databases

BgeeiQ8WWZ3.
CleanExiHS_EDARADD.
ExpressionAtlasiQ8WWZ3. baseline and differential.
GenevestigatoriQ8WWZ3.

Organism-specific databases

HPAiHPA018836.

Interactioni

Subunit structurei

Self-associates and binds EDAR, TRAF1, TRAF2 and TRAF3.

Binary interactionsi

WithEntry#Exp.IntActNotes
G2XKQ05EBI-2949647,EBI-10175576
RNF111Q6ZNA43EBI-2949647,EBI-2129175
SDCBPO005603EBI-2949647,EBI-727004
SHPRHQ149N83EBI-2949647,EBI-714105
SUMO1P631655EBI-2949647,EBI-80140
TRAF2Q129335EBI-2949647,EBI-355744
TRAF6Q9Y4K35EBI-2949647,EBI-359276
UBE2IP632793EBI-2949647,EBI-80168
WDYHV1Q96HA83EBI-2949647,EBI-741158

Protein-protein interaction databases

BioGridi126096. 13 interactions.
IntActiQ8WWZ3. 12 interactions.
STRINGi9606.ENSP00000335076.

Structurei

3D structure databases

ProteinModelPortaliQ8WWZ3.
SMRiQ8WWZ3. Positions 120-204.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini123 – 20280DeathAdd
BLAST

Sequence similaritiesi

Contains 1 death domain.Curated

Phylogenomic databases

eggNOGiNOG46533.
GeneTreeiENSGT00390000001136.
HOGENOMiHOG000013132.
HOVERGENiHBG018567.
InParanoidiQ8WWZ3.
OMAiDHMAKEP.
PhylomeDBiQ8WWZ3.
TreeFamiTF335658.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
InterProiIPR011029. DEATH-like_dom.
IPR000488. Death_domain.
[Graphical view]
PfamiPF00531. Death. 1 hit.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform A (identifier: Q8WWZ3-1) [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
MGLRTTKQMG RGTKAPGHQE DHMVKEPVED TDPSTLSFNM SDKYPIQDTE
60 70 80 90 100
LPKAEECDTI TLNCPRNSDM KNQGEENGFP DSTGDPLPEI SKDNSCKENC
110 120 130 140 150
TCSSCLLRAP TISDLLNDQD LLDVIRIKLD PCHPTVKNWR NFASKWGMSY
160 170 180 190 200
DELCFLEQRP QSPTLEFLLR NSQRTVGQLM ELCRLYHRAD VEKVLRRWVD
210
EEWPKRERGD PSRHF
Length:215
Mass (Da):24,802
Last modified:November 4, 2008 - v3
Checksum:i25C198E3CA1F68F2
GO
Isoform B (identifier: Q8WWZ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MGLRTTKQMGRGTKAPGHQE → MASPDDPLRA

Show »
Length:205
Mass (Da):23,690
Checksum:iA83CCC3E4F3115CF
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91M → I.3 Publications
Corresponds to variant rs966365 [ dbSNP | Ensembl ].
VAR_050963
Natural varianti103 – 1031S → F.1 Publication
Corresponds to variant rs114632254 [ dbSNP | Ensembl ].
VAR_054509
Natural varianti114 – 1141D → Y in ECTD11A. 1 Publication
VAR_064835
Natural varianti122 – 1221L → R in ECTD11A; severely impairs NF-kappa-B activation and acted in a dominant-negative manner. 1 Publication
VAR_054510
Natural varianti135 – 1362Missing in ECTD11B; impairs the interaction with EDAR and severely inhibits NF-kappa-B activity. 1 Publication
VAR_064836
Natural varianti152 – 1521E → K in ECTD11B; may reduce binding to EDAR; impairs NF-kappa-B activation by about 50%. 2 Publications
VAR_013482

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2020MGLRT…PGHQE → MASPDDPLRA in isoform B. 3 PublicationsVSP_003861Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY028914 mRNA. Translation: AAK40288.1.
AY071862 mRNA. Translation: AAL60590.1.
AY028912
, AY028906, AY028908, AY028909, AY028910, AY028911 Genomic DNA. Translation: AAK40285.1.
AY028912
, AY028907, AY028908, AY028909, AY028910, AY028911 Genomic DNA. Translation: AAK40286.1.
AY028913 mRNA. Translation: AAK40287.1.
AK290862 mRNA. Translation: BAF83551.1.
AK291930 mRNA. Translation: BAF84619.1.
AK314634 mRNA. Translation: BAG37197.1.
AL354693, AL136105 Genomic DNA. Translation: CAH70608.1.
AL354693, AL136105 Genomic DNA. Translation: CAH70609.1.
AL136105, AL354693 Genomic DNA. Translation: CAI22302.1.
AL136105, AL354693 Genomic DNA. Translation: CAI22303.1.
CH471098 Genomic DNA. Translation: EAW70052.1.
BC128082 mRNA. Translation: AAI28083.1.
CCDSiCCDS1610.1. [Q8WWZ3-1]
CCDS31065.1. [Q8WWZ3-2]
RefSeqiNP_542776.1. NM_080738.3. [Q8WWZ3-2]
NP_665860.2. NM_145861.2. [Q8WWZ3-1]
UniGeneiHs.352224.

Genome annotation databases

EnsembliENST00000334232; ENSP00000335076; ENSG00000186197. [Q8WWZ3-1]
ENST00000359362; ENSP00000352320; ENSG00000186197. [Q8WWZ3-2]
GeneIDi128178.
KEGGihsa:128178.
UCSCiuc001hxu.1. human. [Q8WWZ3-1]
uc001hxv.1. human. [Q8WWZ3-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY028914 mRNA. Translation: AAK40288.1.
AY071862 mRNA. Translation: AAL60590.1.
AY028912
, AY028906, AY028908, AY028909, AY028910, AY028911 Genomic DNA. Translation: AAK40285.1.
AY028912
, AY028907, AY028908, AY028909, AY028910, AY028911 Genomic DNA. Translation: AAK40286.1.
AY028913 mRNA. Translation: AAK40287.1.
AK290862 mRNA. Translation: BAF83551.1.
AK291930 mRNA. Translation: BAF84619.1.
AK314634 mRNA. Translation: BAG37197.1.
AL354693, AL136105 Genomic DNA. Translation: CAH70608.1.
AL354693, AL136105 Genomic DNA. Translation: CAH70609.1.
AL136105, AL354693 Genomic DNA. Translation: CAI22302.1.
AL136105, AL354693 Genomic DNA. Translation: CAI22303.1.
CH471098 Genomic DNA. Translation: EAW70052.1.
BC128082 mRNA. Translation: AAI28083.1.
CCDSiCCDS1610.1. [Q8WWZ3-1]
CCDS31065.1. [Q8WWZ3-2]
RefSeqiNP_542776.1. NM_080738.3. [Q8WWZ3-2]
NP_665860.2. NM_145861.2. [Q8WWZ3-1]
UniGeneiHs.352224.

3D structure databases

ProteinModelPortaliQ8WWZ3.
SMRiQ8WWZ3. Positions 120-204.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126096. 13 interactions.
IntActiQ8WWZ3. 12 interactions.
STRINGi9606.ENSP00000335076.

Polymorphism and mutation databases

BioMutaiEDARADD.
DMDMi212276512.

Proteomic databases

MaxQBiQ8WWZ3.
PaxDbiQ8WWZ3.
PRIDEiQ8WWZ3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334232; ENSP00000335076; ENSG00000186197. [Q8WWZ3-1]
ENST00000359362; ENSP00000352320; ENSG00000186197. [Q8WWZ3-2]
GeneIDi128178.
KEGGihsa:128178.
UCSCiuc001hxu.1. human. [Q8WWZ3-1]
uc001hxv.1. human. [Q8WWZ3-2]

Organism-specific databases

CTDi128178.
GeneCardsiGC01P236511.
GeneReviewsiEDARADD.
HGNCiHGNC:14341. EDARADD.
HPAiHPA018836.
MIMi606603. gene.
614940. phenotype.
614941. phenotype.
neXtProtiNX_Q8WWZ3.
Orphaneti1810. Autosomal dominant hypohidrotic ectodermal dysplasia.
248. Autosomal recessive hypohidrotic ectodermal dysplasia.
99798. Oligodontia.
PharmGKBiPA27603.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG46533.
GeneTreeiENSGT00390000001136.
HOGENOMiHOG000013132.
HOVERGENiHBG018567.
InParanoidiQ8WWZ3.
OMAiDHMAKEP.
PhylomeDBiQ8WWZ3.
TreeFamiTF335658.

Miscellaneous databases

ChiTaRSiEDARADD. human.
GeneWikiiEDARADD.
GenomeRNAii128178.
NextBioi82231.
PROiQ8WWZ3.
SOURCEiSearch...

Gene expression databases

BgeeiQ8WWZ3.
CleanExiHS_EDARADD.
ExpressionAtlasiQ8WWZ3. baseline and differential.
GenevestigatoriQ8WWZ3.

Family and domain databases

Gene3Di1.10.533.10. 1 hit.
InterProiIPR011029. DEATH-like_dom.
IPR000488. Death_domain.
[Graphical view]
PfamiPF00531. Death. 1 hit.
[Graphical view]
SUPFAMiSSF47986. SSF47986. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Gene defect in ectodermal dysplasia implicates a DEATH domain adapter in development."
    Headon D.J., Emmal S.A., Ferguson B.M., Tucker A.S., Justice M.J., Sharpe P.T., Zonana J., Overbeek P.A.
    Nature 414:913-916(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B), VARIANT ECTD11B LYS-152.
  2. "Identification of a novel DEATH domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice."
    Yan M., Zhang Z., Brady J.R., Schilbach S., Fairbrother W.J., Dixit V.M.
    Curr. Biol. 12:409-413(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B), FUNCTION.
    Tissue: Skin.
  3. "A novel death domain adapter required for ectodermal development."
    Emmal S.A., Ferguson B.M., Zonana J.
    Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-9.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND B), VARIANT ILE-9.
    Tissue: Mammary gland and Placenta.
  5. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A), VARIANT ILE-9.
  8. Cited for: VARIANT ECTD11A ARG-122, CHARACTERIZATION OF VARIANT ECTD11A ARG-122, CHARACTERIZATION OF VARIANT ECTD11B LYS-152.
  9. "Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia."
    van der Hout A.H., Oudesluijs G.G., Venema A., Verheij J.B.G.M., Mol B.G.J., Rump P., Brunner H.G., Vos Y.J., van Essen A.J.
    Eur. J. Hum. Genet. 16:673-679(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PHE-103.
  10. "Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases."
    Chassaing N., Cluzeau C., Bal E., Guigue P., Vincent M.C., Viot G., Ginisty D., Munnich A., Smahi A., Calvas P.
    Br. J. Dermatol. 162:1044-1048(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ECTD11B 135-THR-VAL-136 DEL, CHARACTERIZATION OF VARIANT ECTD11B 135-THR-VAL-136 DEL.
  11. Cited for: VARIANT ECTD11A TYR-114.

Entry informationi

Entry nameiEDAD_HUMAN
AccessioniPrimary (citable) accession number: Q8WWZ3
Secondary accession number(s): A2VCK5
, A8K7B5, B1AL54, B9ZVW5, Q5VYJ7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 6, 2002
Last sequence update: November 4, 2008
Last modified: April 29, 2015
This is version 117 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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

External Data

Dasty 3

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 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.