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Q8WWZ3

- EDAD_HUMAN

UniProt

Q8WWZ3 - EDAD_HUMAN

Protein

Ectodysplasin-A receptor-associated adapter protein

Gene

EDARADD

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 3 (04 Nov 2008)
      Previous versions | rss
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    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

    1. cell differentiation Source: UniProtKB-KW
    2. hair follicle development Source: Ensembl
    3. odontogenesis of dentin-containing tooth Source: Ensembl
    4. signal transduction Source: InterPro
    5. trachea gland development Source: Ensembl

    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: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:14341. EDARADD.

    Subcellular locationi

    Cytoplasm Curated

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant (ECTD11A) [MIM:614940]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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) [MIM:614941]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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%. 1 Publication
    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.

    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

    ArrayExpressiQ8WWZ3.
    BgeeiQ8WWZ3.
    CleanExiHS_EDARADD.
    GenevestigatoriQ8WWZ3.

    Organism-specific databases

    HPAiHPA018836.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi126096. 5 interactions.
    IntActiQ8WWZ3. 3 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.
    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. Align

    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

    MGLRTTKQMG RGTKAPGHQE DHMVKEPVED TDPSTLSFNM SDKYPIQDTE    50
    LPKAEECDTI TLNCPRNSDM KNQGEENGFP DSTGDPLPEI SKDNSCKENC 100
    TCSSCLLRAP TISDLLNDQD LLDVIRIKLD PCHPTVKNWR NFASKWGMSY 150
    DELCFLEQRP QSPTLEFLLR NSQRTVGQLM ELCRLYHRAD VEKVLRRWVD 200
    EEWPKRERGD PSRHF 215
    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%. 1 Publication
    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:
    EMBL
    GenBank
    DDBJ
    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]

    Polymorphism databases

    DMDMi212276512.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS1610.1. [Q8WWZ3-1 ]
    CCDS31065.1. [Q8WWZ3-2 ]
    RefSeqi NP_542776.1. NM_080738.3. [Q8WWZ3-2 ]
    NP_665860.2. NM_145861.2. [Q8WWZ3-1 ]
    UniGenei Hs.352224.

    3D structure databases

    ProteinModelPortali Q8WWZ3.
    SMRi Q8WWZ3. Positions 120-204.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126096. 5 interactions.
    IntActi Q8WWZ3. 3 interactions.
    STRINGi 9606.ENSP00000335076.

    Polymorphism databases

    DMDMi 212276512.

    Proteomic databases

    MaxQBi Q8WWZ3.
    PaxDbi Q8WWZ3.
    PRIDEi Q8WWZ3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000334232 ; ENSP00000335076 ; ENSG00000186197 . [Q8WWZ3-1 ]
    ENST00000359362 ; ENSP00000352320 ; ENSG00000186197 . [Q8WWZ3-2 ]
    GeneIDi 128178.
    KEGGi hsa:128178.
    UCSCi uc001hxu.1. human. [Q8WWZ3-1 ]
    uc001hxv.1. human. [Q8WWZ3-2 ]

    Organism-specific databases

    CTDi 128178.
    GeneCardsi GC01P236511.
    GeneReviewsi EDARADD.
    HGNCi HGNC:14341. EDARADD.
    HPAi HPA018836.
    MIMi 606603. gene.
    614940. phenotype.
    614941. phenotype.
    neXtProti NX_Q8WWZ3.
    Orphaneti 1810. Autosomal dominant hypohidrotic ectodermal dysplasia.
    248. Autosomal recessive hypohidrotic ectodermal dysplasia.
    99798. Oligodontia.
    PharmGKBi PA27603.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG46533.
    HOGENOMi HOG000013132.
    HOVERGENi HBG018567.
    InParanoidi Q8WWZ3.
    OMAi DHMAKEP.
    PhylomeDBi Q8WWZ3.
    TreeFami TF335658.

    Miscellaneous databases

    GeneWikii EDARADD.
    GenomeRNAii 128178.
    NextBioi 82231.
    PROi Q8WWZ3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8WWZ3.
    Bgeei Q8WWZ3.
    CleanExi HS_EDARADD.
    Genevestigatori Q8WWZ3.

    Family and domain databases

    Gene3Di 1.10.533.10. 1 hit.
    InterProi IPR011029. DEATH-like_dom.
    IPR000488. Death_domain.
    [Graphical view ]
    Pfami PF00531. Death. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47986. SSF47986. 1 hit.
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 112 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