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Q6ZUT3

- FRMD7_HUMAN

UniProt

Q6ZUT3 - FRMD7_HUMAN

Protein

FERM domain-containing protein 7

Gene

FRMD7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Plays a role in neurite development By similarity. May play a specific role in the control of eye movement and gaze stability.By similarity

    GO - Biological processi

    1. regulation of neuron projection development Source: UniProtKB

    Keywords - Biological processi

    Neurogenesis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    FERM domain-containing protein 7
    Gene namesi
    Name:FRMD7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:8079. FRMD7.

    Subcellular locationi

    Cell projection By similarity. Cell projectiongrowth cone By similarity
    Note: In undifferentiated neurons, located in the actin-rich regions of the cell body. In differentiated neurons, located in the actin-rich regions of the cell body and primary neurite processes but is almost absent from secondary extensions arising from the primary neurite. Also found at the actin-rich distal end of growth cones By similarity.By similarity

    GO - Cellular componenti

    1. cytoskeleton Source: InterPro
    2. extracellular space Source: UniProt
    3. growth cone Source: UniProtKB
    4. neuronal cell body Source: UniProtKB
    5. neuron projection Source: UniProtKB

    Keywords - Cellular componenti

    Cell projection

    Pathology & Biotechi

    Involvement in diseasei

    Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]: A condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141Missing in NYS1. 1 Publication
    VAR_062650
    Natural varianti24 – 241G → E in NYS1. 1 Publication
    VAR_028951
    Natural varianti24 – 241G → R in NYS1. 2 Publications
    VAR_028952
    Natural varianti24 – 241G → W in NYS1. 1 Publication
    VAR_062651
    Natural varianti142 – 1421L → R in NYS1. 1 Publication
    VAR_028953
    Natural varianti146 – 1461R → W in NYS1. 1 Publication
    VAR_062652
    Natural varianti221 – 2211N → D in NYS1. 1 Publication
    VAR_028954
    Natural varianti225 – 2251W → G in NYS1. 1 Publication
    VAR_062653
    Natural varianti226 – 2261A → T in NYS1. 1 Publication
    VAR_028955
    Natural varianti229 – 2291R → C in NYS1. 1 Publication
    VAR_062654
    Natural varianti229 – 2291R → G in NYS1. 1 Publication
    VAR_062655
    Natural varianti231 – 2311L → V in NYS1. 1 Publication
    VAR_028956
    Natural varianti261 – 2611R → G in NYS1. 1 Publication
    VAR_062656
    Natural varianti261 – 2611R → Q in NYS1. 1 Publication
    VAR_062657
    Natural varianti266 – 2661A → P in NYS1. 1 Publication
    VAR_028957
    Natural varianti271 – 2711C → F in NYS1. 2 Publications
    VAR_062658
    Natural varianti271 – 2711C → Y in NYS1. 1 Publication
    VAR_028958
    Natural varianti275 – 2751H → P in NYS1. 1 Publication
    VAR_062659
    Natural varianti296 – 2961G → R in NYS1. 1 Publication
    VAR_062660
    Natural varianti301 – 3011Y → C in NYS1. 1 Publication
    VAR_028960
    Natural varianti340 – 3401S → L in NYS1. 1 Publication
    VAR_028961

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi310700. phenotype.
    Orphaneti651. Idiopathic infantile nystagmus.
    PharmGKBiPA162388934.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 714714FERM domain-containing protein 7PRO_0000259532Add
    BLAST

    Proteomic databases

    MaxQBiQ6ZUT3.
    PaxDbiQ6ZUT3.
    PRIDEiQ6ZUT3.

    PTM databases

    PhosphoSiteiQ6ZUT3.

    Expressioni

    Tissue specificityi

    Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina.1 Publication

    Developmental stagei

    In 37 day post-ovulation (dpo) embryos, expression is found in the mid- and hindbrain, regions known to be involved in motor control of eye movement, and in the ventricular zone of the forebrain. In 56 dpo embryos, expressed in the ventricular layer of the forebrain, midbrain, cerebellar primordium, spinal cord and the developing neural retina. In later development, highly expressed in postmitotic cells within the developing subplate and cortical plate.2 Publications

    Gene expression databases

    BgeeiQ6ZUT3.
    CleanExiHS_FRMD7.
    GenevestigatoriQ6ZUT3.

    Organism-specific databases

    HPAiHPA000886.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000298542.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ZUT3.
    SMRiQ6ZUT3. Positions 3-355.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini2 – 282281FERMPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili537 – 55822Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 1 FERM domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG282099.
    HOGENOMiHOG000231290.
    HOVERGENiHBG080212.
    InParanoidiQ6ZUT3.
    OMAiFPFGSEF.
    OrthoDBiEOG7B5WVD.
    PhylomeDBiQ6ZUT3.
    TreeFamiTF317513.

    Family and domain databases

    Gene3Di1.20.80.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProiIPR019749. Band_41_domain.
    IPR019750. Band_41_fam.
    IPR014847. FERM-adjacent.
    IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
    IPR019748. FERM_central.
    IPR019747. FERM_CS.
    IPR000299. FERM_domain.
    IPR018979. FERM_N.
    IPR018980. FERM_PH-like_C.
    IPR011993. PH_like_dom.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view]
    PfamiPF08736. FA. 1 hit.
    PF09380. FERM_C. 1 hit.
    PF00373. FERM_M. 1 hit.
    PF09379. FERM_N. 1 hit.
    [Graphical view]
    PRINTSiPR00935. BAND41.
    SMARTiSM00295. B41. 1 hit.
    [Graphical view]
    SUPFAMiSSF47031. SSF47031. 1 hit.
    SSF54236. SSF54236. 1 hit.
    PROSITEiPS00660. FERM_1. 1 hit.
    PS50057. FERM_3. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6ZUT3-1) [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

    MLHLKVQFLD DSQKIFVVDQ KSSGKALFNL SCSHLNLAEK EYFGLEFCSH    50
    SGNNVWLELL KPITKQVKNP KEIVFKFMVK FFPVDPGHLR EELTRYLFTL 100
    QIKKDLALGR LPCSDNCTAL MVSHILQSEL GDFHEETDRK HLAQTRYLPN 150
    QDCLEGKIMH FHQKHIGRSP AESDILLLDI ARKLDMYGIR PHPASDGEGM 200
    QIHLAVAHMG VLVLRGNTKI NTFNWAKIRK LSFKRKHFLI KLHANILVLC 250
    KDTLEFTMAS RDACKAFWKT CVEYHAFFRL SEEPKSKPKT LLCSKGSSFR 300
    YSGRTQRQLL EYGRKGRLKS LPFERKHYPS QYHERQCRSS PDLLSDVSKQ 350
    VEDLRLAYGG GYYQNVNGVH ASEPVLESRR RNSALEVTFA TELEHSKPEA 400
    DPTLLHQSQS SSSFPFIYMD PVFNTEPNPN PDPRDIFSER SSLSSFQTSC 450
    KFSGNHMSIY SGLTSKVRPA KQLTYTDVPY IPCTGQQVGI MPPQVFFYVD 500
    KPPQVPRWSP IRAEERTSPH SYVEPTAMKP AERSPRNIRM KSFQQDLQVL 550
    QEAIARTSGR SNINVGLEEE DPNLEDAFVC NIQEQTPKRS QSQSDMKTIR 600
    FPFGSEFRPL GPCPALSHKA DLFTDMFAEQ ELPAVLMDQS TAERYVASES 650
    SDSESEILKP DYYALYGKEI RSPMARIRLS SGSLQLDEED EDAYFNTPTA 700
    EDRTSLKPCN YFLA 714
    Length:714
    Mass (Da):81,614
    Last modified:July 5, 2004 - v1
    Checksum:i7AD1D96FD4585217
    GO
    Isoform 2 (identifier: Q6ZUT3-2) [UniParc]FASTAAdd to Basket

    Also known as: S

    The sequence of this isoform differs from the canonical sequence as follows:
         69-84: NPKEIVFKFMVKFFPV → M

    Note: May play a role during neuronal differentiation and development. Shares a similar tissue distribution, co-localize with, and interact with isoform 1 in NT2 cells.

    Show »
    Length:699
    Mass (Da):79,793
    Checksum:iA6441806524D27FD
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti14 – 141Missing in NYS1. 1 Publication
    VAR_062650
    Natural varianti24 – 241G → E in NYS1. 1 Publication
    VAR_028951
    Natural varianti24 – 241G → R in NYS1. 2 Publications
    VAR_028952
    Natural varianti24 – 241G → W in NYS1. 1 Publication
    VAR_062651
    Natural varianti142 – 1421L → R in NYS1. 1 Publication
    VAR_028953
    Natural varianti146 – 1461R → W in NYS1. 1 Publication
    VAR_062652
    Natural varianti221 – 2211N → D in NYS1. 1 Publication
    VAR_028954
    Natural varianti225 – 2251W → G in NYS1. 1 Publication
    VAR_062653
    Natural varianti226 – 2261A → T in NYS1. 1 Publication
    VAR_028955
    Natural varianti229 – 2291R → C in NYS1. 1 Publication
    VAR_062654
    Natural varianti229 – 2291R → G in NYS1. 1 Publication
    VAR_062655
    Natural varianti231 – 2311L → V in NYS1. 1 Publication
    VAR_028956
    Natural varianti261 – 2611R → G in NYS1. 1 Publication
    VAR_062656
    Natural varianti261 – 2611R → Q in NYS1. 1 Publication
    VAR_062657
    Natural varianti266 – 2661A → P in NYS1. 1 Publication
    VAR_028957
    Natural varianti271 – 2711C → F in NYS1. 2 Publications
    VAR_062658
    Natural varianti271 – 2711C → Y in NYS1. 1 Publication
    VAR_028958
    Natural varianti275 – 2751H → P in NYS1. 1 Publication
    VAR_062659
    Natural varianti281 – 2811S → L.
    Corresponds to variant rs5977625 [ dbSNP | Ensembl ].
    VAR_028959
    Natural varianti296 – 2961G → R in NYS1. 1 Publication
    VAR_062660
    Natural varianti301 – 3011Y → C in NYS1. 1 Publication
    VAR_028960
    Natural varianti340 – 3401S → L in NYS1. 1 Publication
    VAR_028961
    Natural varianti468 – 4681R → H.
    Corresponds to variant rs6637934 [ dbSNP | Ensembl ].
    VAR_028962

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei69 – 8416NPKEI…KFFPV → M in isoform 2. 1 PublicationVSP_038722Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    FJ717411 mRNA. Translation: ACN56448.1.
    AK125336 mRNA. Translation: BAC86135.1.
    AL049792 Genomic DNA. No translation available.
    AL109749 Genomic DNA. Translation: CAI42080.1. Sequence problems.
    BC114371 mRNA. Translation: AAI14372.1.
    CCDSiCCDS35397.1. [Q6ZUT3-1]
    RefSeqiNP_919253.1. NM_194277.2. [Q6ZUT3-1]
    XP_005262550.1. XM_005262493.1. [Q6ZUT3-2]
    UniGeneiHs.170776.

    Genome annotation databases

    EnsembliENST00000298542; ENSP00000298542; ENSG00000165694. [Q6ZUT3-1]
    ENST00000464296; ENSP00000417996; ENSG00000165694. [Q6ZUT3-2]
    GeneIDi90167.
    KEGGihsa:90167.
    UCSCiuc004ewn.3. human. [Q6ZUT3-1]
    uc011muy.2. human. [Q6ZUT3-2]

    Polymorphism databases

    DMDMi74749680.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    FJ717411 mRNA. Translation: ACN56448.1 .
    AK125336 mRNA. Translation: BAC86135.1 .
    AL049792 Genomic DNA. No translation available.
    AL109749 Genomic DNA. Translation: CAI42080.1 . Sequence problems.
    BC114371 mRNA. Translation: AAI14372.1 .
    CCDSi CCDS35397.1. [Q6ZUT3-1 ]
    RefSeqi NP_919253.1. NM_194277.2. [Q6ZUT3-1 ]
    XP_005262550.1. XM_005262493.1. [Q6ZUT3-2 ]
    UniGenei Hs.170776.

    3D structure databases

    ProteinModelPortali Q6ZUT3.
    SMRi Q6ZUT3. Positions 3-355.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000298542.

    PTM databases

    PhosphoSitei Q6ZUT3.

    Polymorphism databases

    DMDMi 74749680.

    Proteomic databases

    MaxQBi Q6ZUT3.
    PaxDbi Q6ZUT3.
    PRIDEi Q6ZUT3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000298542 ; ENSP00000298542 ; ENSG00000165694 . [Q6ZUT3-1 ]
    ENST00000464296 ; ENSP00000417996 ; ENSG00000165694 . [Q6ZUT3-2 ]
    GeneIDi 90167.
    KEGGi hsa:90167.
    UCSCi uc004ewn.3. human. [Q6ZUT3-1 ]
    uc011muy.2. human. [Q6ZUT3-2 ]

    Organism-specific databases

    CTDi 90167.
    GeneCardsi GC0XM131211.
    GeneReviewsi FRMD7.
    HGNCi HGNC:8079. FRMD7.
    HPAi HPA000886.
    MIMi 300628. gene.
    310700. phenotype.
    neXtProti NX_Q6ZUT3.
    Orphaneti 651. Idiopathic infantile nystagmus.
    PharmGKBi PA162388934.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG282099.
    HOGENOMi HOG000231290.
    HOVERGENi HBG080212.
    InParanoidi Q6ZUT3.
    OMAi FPFGSEF.
    OrthoDBi EOG7B5WVD.
    PhylomeDBi Q6ZUT3.
    TreeFami TF317513.

    Miscellaneous databases

    GeneWikii FRMD7.
    GenomeRNAii 90167.
    NextBioi 76567.
    PROi Q6ZUT3.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6ZUT3.
    CleanExi HS_FRMD7.
    Genevestigatori Q6ZUT3.

    Family and domain databases

    Gene3Di 1.20.80.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProi IPR019749. Band_41_domain.
    IPR019750. Band_41_fam.
    IPR014847. FERM-adjacent.
    IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
    IPR019748. FERM_central.
    IPR019747. FERM_CS.
    IPR000299. FERM_domain.
    IPR018979. FERM_N.
    IPR018980. FERM_PH-like_C.
    IPR011993. PH_like_dom.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view ]
    Pfami PF08736. FA. 1 hit.
    PF09380. FERM_C. 1 hit.
    PF00373. FERM_M. 1 hit.
    PF09379. FERM_N. 1 hit.
    [Graphical view ]
    PRINTSi PR00935. BAND41.
    SMARTi SM00295. B41. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47031. SSF47031. 1 hit.
    SSF54236. SSF54236. 1 hit.
    PROSITEi PS00660. FERM_1. 1 hit.
    PS50057. FERM_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a novel FRMD7 splice variant and functional analysis of two FRMD7 transcripts during human NT2 cell differentiation."
      Li Y., Pu J., Liu Z., Xu S., Jin F., Zhu L., Tian J., Luo J., Zhang B.
      Mol. Vis. 17:2986-2996(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
    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 1).
    3. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      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] (ISOFORM 1).
    5. "The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development."
      Betts-Henderson J., Bartesaghi S., Crosier M., Lindsay S., Chen H.L., Salomoni P., Gottlob I., Nicotera P.
      Hum. Mol. Genet. 19:342-351(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: DEVELOPMENTAL STAGE.
    6. Cited for: VARIANTS NYS1 ARG-24; GLU-24; ARG-142; ASP-221; THR-226; VAL-231; PRO-266; TYR-271; CYS-301 AND LEU-340, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    7. Cited for: VARIANTS NYS1 GLY-225 AND PRO-275.
    8. "FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus."
      Zhang Q., Xiao X., Li S., Guo X.
      Mol. Vis. 13:1375-1378(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS NYS1 LYS-14 DEL; ARG-24; TRP-146 AND CYS-229.
    9. "Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus."
      Zhang B., Liu Z., Zhao G., Xie X., Yin X., Hu Z., Xu S., Li Q., Song F., Tian J., Luo W., Ding M., Yin J., Xia K., Xia J.
      Mol. Vis. 13:1674-1679(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS NYS1 GLY-261 AND ARG-296.
    10. "Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene."
      Kaplan Y., Vargel I., Kansu T., Akin B., Rohmann E., Kamaci S., Uz E., Ozcelik T., Wollnik B., Akarsu N.A.
      Br. J. Ophthalmol. 92:135-141(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NYS1 GLY-229.
    11. "A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family."
      He X., Gu F., Wang Y., Yan J., Zhang M., Huang S., Ma X.
      Mol. Vis. 14:56-60(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NYS1 PHE-271.
    12. "Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus."
      Li N., Wang L., Cui L., Zhang L., Dai S., Li H., Chen X., Zhu L., Hejtmancik J.F., Zhao K.
      Mol. Vis. 14:733-738(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS NYS1 TRP-24; GLN-261 AND PHE-271.

    Entry informationi

    Entry nameiFRMD7_HUMAN
    AccessioniPrimary (citable) accession number: Q6ZUT3
    Secondary accession number(s): C0LLJ3, Q5JX99
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2006
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 96 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. 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