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Q70SY1

- CR3L2_HUMAN

UniProt

Q70SY1 - CR3L2_HUMAN

Protein

Cyclic AMP-responsive element-binding protein 3-like protein 2

Gene

CREB3L2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    Transcriptional activator which is processed and activated during endoplasmic reticulum stress late phase. Binds to the cAMP response element (CRE) and activates transcription through CRE. Regulates the transcription of unfolded protein response target genes, preventing accumulation of unfolded proteins in damaged neurons. Also regulates the expression of SEC23A, accelerating protein trafficking from the ER to the Golgi thereby playing a key role in chondrocyte differentiation and formation of epiphyseal cartilage By similarity.By similarity

    GO - Molecular functioni

    1. cAMP response element binding Source: UniProtKB
    2. sequence-specific DNA binding Source: InterPro
    3. sequence-specific DNA binding transcription factor activity Source: InterPro
    4. transcription regulatory region DNA binding Source: UniProtKB

    GO - Biological processi

    1. cartilage development Source: UniProtKB
    2. chondrocyte differentiation Source: UniProtKB
    3. ER to Golgi vesicle-mediated transport Source: Ensembl
    4. positive regulation of transcription, DNA-templated Source: UniProtKB
    5. response to endoplasmic reticulum stress Source: UniProtKB
    6. response to unfolded protein Source: UniProtKB-KW
    7. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation, Unfolded protein response

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cyclic AMP-responsive element-binding protein 3-like protein 2
    Short name:
    cAMP-responsive element-binding protein 3-like protein 2
    Alternative name(s):
    BBF2 human homolog on chromosome 7
    Cleaved into the following chain:
    Gene namesi
    Name:CREB3L2
    Synonyms:BBF2H7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:23720. CREB3L2.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Single-pass type II membrane protein 1 Publication
    Chain Processed cyclic AMP-responsive element-binding protein 3-like protein 2 : Nucleus
    Note: Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus.

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    3. integral component of membrane Source: UniProtKB-KW
    4. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving CREB3L2 is found in low grade fibromyxoid sarcoma (LGFMS). Translocation t(7;16)(q33;p11) with FUS.

    Keywords - Diseasei

    Proto-oncogene

    Organism-specific databases

    Orphaneti79105. Myxofibrosarcoma.
    PharmGKBiPA134914841.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 520520Cyclic AMP-responsive element-binding protein 3-like protein 2PRO_0000288067Add
    BLAST
    Chaini1 – ?Processed cyclic AMP-responsive element-binding protein 3-like protein 2PRO_0000296209

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei191 – 1911Phosphoserine1 Publication
    Glycosylationi480 – 4801N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi504 – 5041N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi517 – 5171N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    Controlled by regulated intramembrane proteolysis (RIP). Following ER stress a fragment containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 and site-2 proteases (PS1 and PS2).1 Publication

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ70SY1.
    PaxDbiQ70SY1.
    PRIDEiQ70SY1.

    PTM databases

    PhosphoSiteiQ70SY1.

    Expressioni

    Tissue specificityi

    Widely expressed with highest levels in placenta, lung, spleen and intestine, and lowest levels in heart, brain, skeletal muscle, thymus, colon and leukocytes. In fetal tissues, the weakest expression is detected in brain and heart.1 Publication

    Gene expression databases

    ArrayExpressiQ70SY1.
    BgeeiQ70SY1.
    CleanExiHS_CREB3L2.
    GenevestigatoriQ70SY1.

    Organism-specific databases

    HPAiHPA015068.

    Interactioni

    Subunit structurei

    Binds DNA as a dimer.By similarity

    Protein-protein interaction databases

    BioGridi122277. 17 interactions.
    IntActiQ70SY1. 11 interactions.
    STRINGi9606.ENSP00000329140.

    Structurei

    3D structure databases

    ProteinModelPortaliQ70SY1.
    SMRiQ70SY1. Positions 264-352.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 379379CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini401 – 520120LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei380 – 40021Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini294 – 35764bZIPPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni296 – 32530Basic motifPROSITE-ProRule annotationAdd
    BLAST
    Regioni336 – 35722Leucine-zipperPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the bZIP family. ATF subfamily.Curated
    Contains 1 bZIP (basic-leucine zipper) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG294764.
    HOGENOMiHOG000060150.
    HOVERGENiHBG057480.
    InParanoidiQ70SY1.
    KOiK09048.
    OMAiHFTEFLD.
    OrthoDBiEOG7327QN.
    PhylomeDBiQ70SY1.
    TreeFamiTF316079.

    Family and domain databases

    InterProiIPR004827. bZIP.
    [Graphical view]
    PfamiPF00170. bZIP_1. 1 hit.
    [Graphical view]
    SMARTiSM00338. BRLZ. 1 hit.
    [Graphical view]
    PROSITEiPS50217. BZIP. 1 hit.
    PS00036. BZIP_BASIC. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

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

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q70SY1-1) [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

    MEVLESGEQG VLQWDRKLSE LSEPGDGEAL MYHTHFSELL DEFSQNVLGQ    50
    LLNDPFLSEK SVSMEVEPSP TSPAPLIQAE HSYSLCEEPR AQSPFTHITT 100
    SDSFNDDEVE SEKWYLSTDF PSTSIKTEPV TDEPPPGLVP SVTLTITAIS 150
    TPLEKEEPPL EMNTGVDSSC QTIIPKIKLE PHEVDQFLNF SPKEAPVDHL 200
    HLPPTPPSSH GSDSEGSLSP NPRLHPFSLP QTHSPSRAAP RAPSALSSSP 250
    LLTAPHKLQG SGPLVLTEEE KRTLIAEGYP IPTKLPLSKS EEKALKKIRR 300
    KIKNKISAQE SRRKKKEYMD SLEKKVESCS TENLELRKKV EVLENTNRTL 350
    LQQLQKLQTL VMGKVSRTCK LAGTQTGTCL MVVVLCFAVA FGSFFQGYGP 400
    YPSATKMALP SQHSLQEPYT ASVVRSRNLL IYEEHSPPEE SSSPGSAGEL 450
    GGWDRGSSLL RVSGLESRPD VDLPHFIISN ETSLEKSVLL ELQQHLVSAK 500
    LEGNETLKVV ELDRRVNTTF 520
    Length:520
    Mass (Da):57,415
    Last modified:May 18, 2010 - v3
    Checksum:i64699072EEB454D3
    GO
    Isoform 2 (identifier: Q70SY1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         424-520: VRSRNLLIYE...ELDRRVNTTF → GKTACGKLGR...FCESPMFKKW

    Note: No experimental confirmation available.

    Show »
    Length:460
    Mass (Da):50,843
    Checksum:i8762472720C306F0
    GO
    Isoform 3 (identifier: Q70SY1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         195-248: APVDHLHLPP...APRAPSALSS → GLSALPVSLW...FLKNKNFASK
         249-520: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:248
    Mass (Da):27,722
    Checksum:i8AF3A941E7068506
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti100 – 1001Missing.3 Publications
    VAR_062385
    Natural varianti130 – 1301V → I.3 Publications
    Corresponds to variant rs273957 [ dbSNP | Ensembl ].
    VAR_062386

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei195 – 24854APVDH…SALSS → GLSALPVSLWVMDMVSGSTE REYGERAGMSLYHRCCSWLY EIALFLKNKNFASK in isoform 3. 1 PublicationVSP_025634Add
    BLAST
    Alternative sequencei249 – 520272Missing in isoform 3. 1 PublicationVSP_025635Add
    BLAST
    Alternative sequencei424 – 52097VRSRN…VNTTF → GKTACGKLGRVLFYFPRAGF LSLPKGIFCESPMFKKW in isoform 2. 1 PublicationVSP_025636Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ549092 mRNA. Translation: CAD79342.1.
    AJ549387 mRNA. Translation: CAD79347.1.
    AK131517 mRNA. Translation: BAD18659.1.
    CH236950 Genomic DNA. Translation: EAL24050.1.
    BC063666 mRNA. Translation: AAH63666.1.
    BC110813 mRNA. Translation: AAI10814.1.
    CCDSiCCDS34760.1. [Q70SY1-1]
    CCDS59083.1. [Q70SY1-3]
    RefSeqiNP_001240704.1. NM_001253775.1. [Q70SY1-3]
    NP_919047.2. NM_194071.3. [Q70SY1-1]
    UniGeneiHs.490273.

    Genome annotation databases

    EnsembliENST00000330387; ENSP00000329140; ENSG00000182158. [Q70SY1-1]
    ENST00000452463; ENSP00000410314; ENSG00000182158. [Q70SY1-3]
    ENST00000456390; ENSP00000403550; ENSG00000182158. [Q70SY1-2]
    GeneIDi64764.
    KEGGihsa:64764.
    UCSCiuc003vtv.3. human. [Q70SY1-1]
    uc003vtx.2. human. [Q70SY1-2]
    uc003vty.4. human. [Q70SY1-3]

    Polymorphism databases

    DMDMi296439387.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ549092 mRNA. Translation: CAD79342.1 .
    AJ549387 mRNA. Translation: CAD79347.1 .
    AK131517 mRNA. Translation: BAD18659.1 .
    CH236950 Genomic DNA. Translation: EAL24050.1 .
    BC063666 mRNA. Translation: AAH63666.1 .
    BC110813 mRNA. Translation: AAI10814.1 .
    CCDSi CCDS34760.1. [Q70SY1-1 ]
    CCDS59083.1. [Q70SY1-3 ]
    RefSeqi NP_001240704.1. NM_001253775.1. [Q70SY1-3 ]
    NP_919047.2. NM_194071.3. [Q70SY1-1 ]
    UniGenei Hs.490273.

    3D structure databases

    ProteinModelPortali Q70SY1.
    SMRi Q70SY1. Positions 264-352.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122277. 17 interactions.
    IntActi Q70SY1. 11 interactions.
    STRINGi 9606.ENSP00000329140.

    PTM databases

    PhosphoSitei Q70SY1.

    Polymorphism databases

    DMDMi 296439387.

    Proteomic databases

    MaxQBi Q70SY1.
    PaxDbi Q70SY1.
    PRIDEi Q70SY1.

    Protocols and materials databases

    DNASUi 64764.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000330387 ; ENSP00000329140 ; ENSG00000182158 . [Q70SY1-1 ]
    ENST00000452463 ; ENSP00000410314 ; ENSG00000182158 . [Q70SY1-3 ]
    ENST00000456390 ; ENSP00000403550 ; ENSG00000182158 . [Q70SY1-2 ]
    GeneIDi 64764.
    KEGGi hsa:64764.
    UCSCi uc003vtv.3. human. [Q70SY1-1 ]
    uc003vtx.2. human. [Q70SY1-2 ]
    uc003vty.4. human. [Q70SY1-3 ]

    Organism-specific databases

    CTDi 64764.
    GeneCardsi GC07M137559.
    HGNCi HGNC:23720. CREB3L2.
    HPAi HPA015068.
    MIMi 608834. gene.
    neXtProti NX_Q70SY1.
    Orphaneti 79105. Myxofibrosarcoma.
    PharmGKBi PA134914841.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG294764.
    HOGENOMi HOG000060150.
    HOVERGENi HBG057480.
    InParanoidi Q70SY1.
    KOi K09048.
    OMAi HFTEFLD.
    OrthoDBi EOG7327QN.
    PhylomeDBi Q70SY1.
    TreeFami TF316079.

    Miscellaneous databases

    ChiTaRSi CREB3L2. human.
    GenomeRNAii 64764.
    NextBioi 66755.
    PROi Q70SY1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q70SY1.
    Bgeei Q70SY1.
    CleanExi HS_CREB3L2.
    Genevestigatori Q70SY1.

    Family and domain databases

    InterProi IPR004827. bZIP.
    [Graphical view ]
    Pfami PF00170. bZIP_1. 1 hit.
    [Graphical view ]
    SMARTi SM00338. BRLZ. 1 hit.
    [Graphical view ]
    PROSITEi PS50217. BZIP. 1 hit.
    PS00036. BZIP_BASIC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS THR-100 DEL AND ILE-130, TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH FUS.
      Tissue: Lung and Placenta.
    2. "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] (ISOFORM 2).
      Tissue: Tongue.
    3. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS THR-100 DEL AND ILE-130.
    4. "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] (ISOFORMS 1 AND 3), VARIANTS THR-100 DEL AND ILE-130.
      Tissue: Brain and Skin.
    5. Cited for: CHROMOSOMAL TRANSLOCATION WITH FUS.
    6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-191, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "BBF2H7, a novel transmembrane bZIP transcription factor, is a new type of endoplasmic reticulum stress transducer."
      Kondo S., Saito A., Hino S., Murakami T., Ogata M., Kanemoto S., Nara S., Yamashita A., Yoshinaga K., Hara H., Imaizumi K.
      Mol. Cell. Biol. 27:1716-1729(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, PROTEOLYTIC PROCESSING.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiCR3L2_HUMAN
    AccessioniPrimary (citable) accession number: Q70SY1
    Secondary accession number(s): Q6P454, Q6ZMR6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 29, 2007
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 101 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 7
      Human chromosome 7: 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