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Q8N0W7

- FMR1N_HUMAN

UniProt

Q8N0W7 - FMR1N_HUMAN

Protein

Fragile X mental retardation 1 neighbor protein

Gene

FMR1NB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 83 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fragile X mental retardation 1 neighbor protein
    Alternative name(s):
    Cancer/testis antigen 37
    Short name:
    CT37
    Sarcoma antigen NY-SAR-35
    Gene namesi
    Name:FMR1NB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:26372. FMR1NB.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. nucleolus Source: HPA

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134927784.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 255255Fragile X mental retardation 1 neighbor proteinPRO_0000281735Add
    BLAST

    Proteomic databases

    PaxDbiQ8N0W7.
    PRIDEiQ8N0W7.

    PTM databases

    PhosphoSiteiQ8N0W7.

    Expressioni

    Tissue specificityi

    Testis-specific. Expressed in melanoma, sarcoma, lung, breast, bladder, esophageal and ovarian cancers.1 Publication

    Gene expression databases

    BgeeiQ8N0W7.
    CleanExiHS_FMR1NB.
    GenevestigatoriQ8N0W7.

    Organism-specific databases

    HPAiCAB026403.
    HPA011284.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000359498.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N0W7.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 6868CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini90 – 18394ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini205 – 25551CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei69 – 8921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei184 – 20421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini125 – 18460P-typeAdd
    BLAST

    Sequence similaritiesi

    Contains 1 P-type (trefoil) domain.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG45156.
    HOGENOMiHOG000112622.
    InParanoidiQ8N0W7.
    OMAiKPCNELQ.
    PhylomeDBiQ8N0W7.
    TreeFamiTF338231.

    Sequencei

    Sequence statusi: Complete.

    Q8N0W7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSSHRRKAKG RNRRSHRAMR VAHLELATYE LAATESNPES SHPGYEAAMA    50
    DRPQPGWRES LKMRVSKPFG MLMLSIWILL FVCYYLSYYL CSGSSYFVLA 100
    NGHILPNSEN AHGQSLEEDS ALEALLNFFF PTTCNLRENQ VAKPCNELQD 150
    LSESECLRHK CCFSSSGTTS FKCFAPFRDV PKQMMQMFGL GAISLILVCL 200
    PIYCRSLFWR SEPADDLQRQ DNRVVTGLKK QRRKRKRKSE MLQKAARGRE 250
    EHGDE 255
    Length:255
    Mass (Da):29,241
    Last modified:October 1, 2002 - v1
    Checksum:iE4AAF48D171ED484
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti142 – 1421A → V.
    Corresponds to variant rs764631 [ dbSNP | Ensembl ].
    VAR_031254

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY211917 mRNA. Translation: AAO65170.1.
    AK098602 mRNA. Translation: BAC05349.1.
    CH471171 Genomic DNA. Translation: EAW61291.1.
    CH471171 Genomic DNA. Translation: EAW61292.1.
    BC034320 mRNA. Translation: AAH34320.1.
    CCDSiCCDS14683.1.
    RefSeqiNP_689791.1. NM_152578.2.
    UniGeneiHs.128580.

    Genome annotation databases

    EnsembliENST00000370467; ENSP00000359498; ENSG00000176988.
    GeneIDi158521.
    KEGGihsa:158521.
    UCSCiuc004fcm.3. human.

    Polymorphism databases

    DMDMi74728471.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY211917 mRNA. Translation: AAO65170.1 .
    AK098602 mRNA. Translation: BAC05349.1 .
    CH471171 Genomic DNA. Translation: EAW61291.1 .
    CH471171 Genomic DNA. Translation: EAW61292.1 .
    BC034320 mRNA. Translation: AAH34320.1 .
    CCDSi CCDS14683.1.
    RefSeqi NP_689791.1. NM_152578.2.
    UniGenei Hs.128580.

    3D structure databases

    ProteinModelPortali Q8N0W7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000359498.

    PTM databases

    PhosphoSitei Q8N0W7.

    Polymorphism databases

    DMDMi 74728471.

    Proteomic databases

    PaxDbi Q8N0W7.
    PRIDEi Q8N0W7.

    Protocols and materials databases

    DNASUi 158521.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370467 ; ENSP00000359498 ; ENSG00000176988 .
    GeneIDi 158521.
    KEGGi hsa:158521.
    UCSCi uc004fcm.3. human.

    Organism-specific databases

    CTDi 158521.
    GeneCardsi GC0XP147062.
    HGNCi HGNC:26372. FMR1NB.
    HPAi CAB026403.
    HPA011284.
    neXtProti NX_Q8N0W7.
    PharmGKBi PA134927784.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45156.
    HOGENOMi HOG000112622.
    InParanoidi Q8N0W7.
    OMAi KPCNELQ.
    PhylomeDBi Q8N0W7.
    TreeFami TF338231.

    Miscellaneous databases

    GenomeRNAii 158521.
    NextBioi 87763.
    PROi Q8N0W7.

    Gene expression databases

    Bgeei Q8N0W7.
    CleanExi HS_FMR1NB.
    Genevestigatori Q8N0W7.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    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].
      Tissue: Testis.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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].
      Tissue: Testis.

    Entry informationi

    Entry nameiFMR1N_HUMAN
    AccessioniPrimary (citable) accession number: Q8N0W7
    Secondary accession number(s): D3DWT3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 83 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3