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Q9BY79

- MFRP_HUMAN

UniProt

Q9BY79 - MFRP_HUMAN

Protein

Membrane frizzled-related protein

Gene

MFRP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    May play a role in eye development.1 Publication

    GO - Biological processi

    1. embryo development Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Membrane frizzled-related protein
    Alternative name(s):
    Membrane-type frizzled-related protein
    Gene namesi
    Name:MFRP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:18121. MFRP.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Nanophthalmos 2 (NNO2) [MIM:609549]: Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti182 – 1821I → T in NNO2. 1 Publication
    VAR_025694
    Microphthalmia, isolated, 5 (MCOP5) [MIM:611040]: A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation, Microphthalmia, Retinitis pigmentosa

    Organism-specific databases

    MIMi609549. phenotype.
    611040. phenotype.
    Orphaneti251279. Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen.
    35612. Nanophthalmia.
    PharmGKBiPA30776.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 579579Membrane frizzled-related proteinPRO_0000228132Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi144 ↔ 170By similarity
    Disulfide bondi197 ↔ 216By similarity
    Glycosylationi227 – 2271N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi260 ↔ 272By similarity
    Disulfide bondi267 ↔ 285By similarity
    Disulfide bondi279 ↔ 294By similarity
    Disulfide bondi301 ↔ 327By similarity
    Disulfide bondi354 ↔ 377By similarity
    Glycosylationi415 – 4151N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi421 ↔ 433By similarity
    Disulfide bondi428 ↔ 446By similarity
    Disulfide bondi440 ↔ 454By similarity
    Disulfide bondi466 ↔ 528By similarity
    Disulfide bondi474 ↔ 521By similarity
    Disulfide bondi512 ↔ 549By similarity
    Disulfide bondi538 ↔ 576By similarity
    Disulfide bondi542 ↔ 564By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ9BY79.
    PRIDEiQ9BY79.

    Expressioni

    Tissue specificityi

    Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes.2 Publications

    Developmental stagei

    Expressed in fetal brain.1 Publication

    Gene expression databases

    CleanExiHS_MFRP.
    GenevestigatoriQ9BY79.

    Organism-specific databases

    HPAiHPA042946.

    Interactioni

    Subunit structurei

    Interacts with C1QTNF5.1 Publication

    Protein-protein interaction databases

    BioGridi123684. 1 interaction.
    125392. 1 interaction.
    STRINGi9606.ENSP00000391664.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BY79.
    SMRiQ9BY79. Positions 127-428, 463-572.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 6969CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini91 – 579489ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei70 – 9021Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini144 – 253110CUB 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini259 – 29537LDL-receptor class A 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini301 – 414114CUB 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini420 – 45536LDL-receptor class A 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini461 – 579119FZPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi111 – 12111Poly-ThrAdd
    BLAST

    Sequence similaritiesi

    Contains 2 CUB domains.PROSITE-ProRule annotation
    Contains 1 FZ (frizzled) domain.PROSITE-ProRule annotation
    Contains 2 LDL-receptor class A domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG261421.
    HOGENOMiHOG000048709.
    HOVERGENiHBG081968.
    InParanoidiQ9BY79.
    OMAiGLEACAQ.
    OrthoDBiEOG7S4X5R.
    PhylomeDBiQ9BY79.
    TreeFamiTF316506.

    Family and domain databases

    Gene3Di1.10.2000.10. 1 hit.
    2.60.120.290. 2 hits.
    4.10.400.10. 2 hits.
    InterProiIPR000859. CUB_dom.
    IPR020067. Frizzled_dom.
    IPR023415. LDLR_class-A_CS.
    IPR002172. LDrepeatLR_classA_rpt.
    [Graphical view]
    PfamiPF00431. CUB. 2 hits.
    PF01392. Fz. 1 hit.
    PF00057. Ldl_recept_a. 1 hit.
    [Graphical view]
    PRINTSiPR00261. LDLRECEPTOR.
    SMARTiSM00042. CUB. 2 hits.
    SM00192. LDLa. 2 hits.
    [Graphical view]
    SUPFAMiSSF49854. SSF49854. 2 hits.
    SSF57424. SSF57424. 2 hits.
    SSF63501. SSF63501. 1 hit.
    PROSITEiPS01180. CUB. 2 hits.
    PS50038. FZ. 1 hit.
    PS01209. LDLRA_1. 1 hit.
    PS50068. LDLRA_2. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BY79-1) [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

    MKDFSDVILC MEATESSKTE FCNPAFEPES GPPCPPPVFP EDASYSVPAP    50
    WHGRRPRGLR PDCRFSWLCV LLLSSLLLLL LGLLVAIILA QLQAAPPSGA 100
    SHSPLPAGGL TTTTTTPTIT TSQAAGTPKG QQESGVSPSP QSTCGGLLSG 150
    PRGFFSSPNY PDPYPPNTHC VWHIQVATDH AIQLKIEALS IESVASCLFD 200
    RLELSPEPEG PLLRVCGRVP PPTLNTNASH LLVVFVSDSS VEGFGFHAWY 250
    QAMAPGRGSC AHDEFRCDQL ICLLPDSVCD GFANCADGSD ETNCSAKFSG 300
    CGGNLTGLQG TFSTPSYLQQ YPHQLLCTWH ISVPAGHSIE LQFHNFSLEA 350
    QDECKFDYVE VYETSSSGAF SLLGRFCGAE PPPHLVSSHH ELAVLFRTDH 400
    GISSGGFSAT YLAFNATENP CGPSELSCQA GGCKGVQWMC DMWRDCTDGS 450
    DDNCSGPLFP PPELACEPVQ VEMCLGLSYN TTAFPNIWVG MITQEEVVEV 500
    LSGYKSLTSL PCYQHFRRLL CGLLVPRCTP LGSVLPPCRS VCQEAEHQCQ 550
    SGLALLGTPW PFNCNRLPEA ADLEACAQP 579
    Length:579
    Mass (Da):62,212
    Last modified:June 1, 2001 - v1
    Checksum:i8E5F8D3A1C4BB074
    GO
    Isoform 2 (identifier: Q9BY79-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         301-387: CGGNLTGLQG...GAEPPPHLVS → SVEQSHPPTS...TAAAPCSHPQ
         388-505: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:461
    Mass (Da):48,919
    Checksum:i9165FD3A20A2A44C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti40 – 401P → Q in CAH93521. (PubMed:16123440)Curated
    Sequence conflicti83 – 831Missing in CAH93521. (PubMed:16123440)Curated
    Sequence conflicti393 – 3931A → S in BAB70859. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541R → G.1 Publication
    Corresponds to variant rs139436396 [ dbSNP | Ensembl ].
    VAR_025691
    Natural varianti119 – 1191I → V.1 Publication
    Corresponds to variant rs4639950 [ dbSNP | Ensembl ].
    VAR_025692
    Natural varianti136 – 1361V → M.2 Publications
    Corresponds to variant rs3814762 [ dbSNP | Ensembl ].
    VAR_025693
    Natural varianti182 – 1821I → T in NNO2. 1 Publication
    VAR_025694
    Natural varianti259 – 2591S → D Requires 2 nucleotide substitutions. 1 Publication
    VAR_071160
    Natural varianti449 – 4491G → S.1 Publication
    VAR_025695
    Natural varianti514 – 5141Q → H.1 Publication
    VAR_025696

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei301 – 38787CGGNL…PHLVS → SVEQSHPPTSSPRTMSWLCC LGQIMASAVEASQPPTWPSM PRRTPVGPVSSPARQEGVRV CSGCVTCGETAPMAAMTTAA APCSHPQ in isoform 2. 1 PublicationVSP_055928Add
    BLAST
    Alternative sequencei388 – 505118Missing in isoform 2. 1 PublicationVSP_055929Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB055505 mRNA. Translation: BAB39771.1.
    AJ862823 mRNA. Translation: CAH93521.1.
    AK055132 mRNA. Translation: BAB70859.1.
    AK295203 mRNA. Translation: BAG58200.1.
    EF444994 Genomic DNA. Translation: ACA06013.1.
    EF444994 Genomic DNA. Translation: ACA06015.1.
    AP003396 Genomic DNA. No translation available.
    CH471065 Genomic DNA. Translation: EAW67483.1.
    CCDSiCCDS8421.1. [Q9BY79-1]
    PIRiJC7629.
    RefSeqiNP_113621.1. NM_031433.3. [Q9BY79-1]
    UniGeneiHs.632102.

    Genome annotation databases

    EnsembliENST00000360167; ENSP00000353291; ENSG00000235718.
    ENST00000449574; ENSP00000391664; ENSG00000235718. [Q9BY79-1]
    GeneIDi83552.
    KEGGihsa:83552.
    UCSCiuc001pwj.2. human. [Q9BY79-1]

    Polymorphism databases

    DMDMi74717666.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB055505 mRNA. Translation: BAB39771.1 .
    AJ862823 mRNA. Translation: CAH93521.1 .
    AK055132 mRNA. Translation: BAB70859.1 .
    AK295203 mRNA. Translation: BAG58200.1 .
    EF444994 Genomic DNA. Translation: ACA06013.1 .
    EF444994 Genomic DNA. Translation: ACA06015.1 .
    AP003396 Genomic DNA. No translation available.
    CH471065 Genomic DNA. Translation: EAW67483.1 .
    CCDSi CCDS8421.1. [Q9BY79-1 ]
    PIRi JC7629.
    RefSeqi NP_113621.1. NM_031433.3. [Q9BY79-1 ]
    UniGenei Hs.632102.

    3D structure databases

    ProteinModelPortali Q9BY79.
    SMRi Q9BY79. Positions 127-428, 463-572.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123684. 1 interaction.
    125392. 1 interaction.
    STRINGi 9606.ENSP00000391664.

    Polymorphism databases

    DMDMi 74717666.

    Proteomic databases

    PaxDbi Q9BY79.
    PRIDEi Q9BY79.

    Protocols and materials databases

    DNASUi 83552.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000360167 ; ENSP00000353291 ; ENSG00000235718 .
    ENST00000449574 ; ENSP00000391664 ; ENSG00000235718 . [Q9BY79-1 ]
    GeneIDi 83552.
    KEGGi hsa:83552.
    UCSCi uc001pwj.2. human. [Q9BY79-1 ]

    Organism-specific databases

    CTDi 83552.
    GeneCardsi GC11M119244.
    HGNCi HGNC:18121. MFRP.
    HPAi HPA042946.
    MIMi 606227. gene.
    609549. phenotype.
    611040. phenotype.
    neXtProti NX_Q9BY79.
    Orphaneti 251279. Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen.
    35612. Nanophthalmia.
    PharmGKBi PA30776.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG261421.
    HOGENOMi HOG000048709.
    HOVERGENi HBG081968.
    InParanoidi Q9BY79.
    OMAi GLEACAQ.
    OrthoDBi EOG7S4X5R.
    PhylomeDBi Q9BY79.
    TreeFami TF316506.

    Miscellaneous databases

    GenomeRNAii 83552.
    NextBioi 35466294.
    PROi Q9BY79.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_MFRP.
    Genevestigatori Q9BY79.

    Family and domain databases

    Gene3Di 1.10.2000.10. 1 hit.
    2.60.120.290. 2 hits.
    4.10.400.10. 2 hits.
    InterProi IPR000859. CUB_dom.
    IPR020067. Frizzled_dom.
    IPR023415. LDLR_class-A_CS.
    IPR002172. LDrepeatLR_classA_rpt.
    [Graphical view ]
    Pfami PF00431. CUB. 2 hits.
    PF01392. Fz. 1 hit.
    PF00057. Ldl_recept_a. 1 hit.
    [Graphical view ]
    PRINTSi PR00261. LDLRECEPTOR.
    SMARTi SM00042. CUB. 2 hits.
    SM00192. LDLa. 2 hits.
    [Graphical view ]
    SUPFAMi SSF49854. SSF49854. 2 hits.
    SSF57424. SSF57424. 2 hits.
    SSF63501. SSF63501. 1 hit.
    PROSITEi PS01180. CUB. 2 hits.
    PS50038. FZ. 1 hit.
    PS01209. LDLRA_1. 1 hit.
    PS50068. LDLRA_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type frizzled-related protein."
      Katoh M.
      Biochem. Biophys. Res. Commun. 282:116-123(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DEVELOPMENTAL STAGE, TISSUE SPECIFICITY.
      Tissue: Fetal brain.
    2. "Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform."
      Mandal M.N.A., Heckenlively J.R., Burch T., Chen L., Vasireddy V., Koenekoop R.K., Sieving P.A., Ayyagari R.
      Invest. Ophthalmol. Vis. Sci. 46:3355-3362(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-136.
    3. "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 1 AND 2).
      Tissue: Brain and Caudate nucleus.
    4. NHLBI resequencing and genotyping service (RS&G)
      Submitted (FEB-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASP-259.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: INTERACTION WITH C1QTNF5.
    8. "Bone morphogenetic protein-2 modulates Wnt and frizzled expression and enhances the canonical pathway of Wnt signaling in normal keratinocytes."
      Yang L., Yamasaki K., Shirakata Y., Dai X., Tokumaru S., Yahata Y., Tohyama M., Hanakawa Y., Sayama K., Hashimoto K.
      J. Dermatol. Sci. 42:111-119(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    9. "Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations."
      Pauer G.J.T., Xi Q., Zhang K., Traboulsi E.I., Hagstrom S.A.
      Ophthalmic Genet. 26:157-161(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS GLY-54; VAL-119; MET-136; SER-449 AND HIS-514.
    10. Cited for: VARIANT NNO2 THR-182, FUNCTION.
    11. "A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation."
      Ayala-Ramirez R., Graue-Wiechers F., Robredo V., Amato-Almanza M., Horta-Diez I., Zenteno J.C.
      Mol. Vis. 12:1483-1489(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN MCOP5.

    Entry informationi

    Entry nameiMFRP_HUMAN
    AccessioniPrimary (citable) accession number: Q9BY79
    Secondary accession number(s): B0YJ36
    , B0YJ37, B4DHN8, Q335M3, Q96DQ9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 21, 2006
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 106 of the entry and version 1 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

    This protein is produced by a bicistronic gene which also produces the C1QTNF5 protein from a non-overlapping reading frame.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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