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Q96NE9

- FRMD6_HUMAN

UniProt

Q96NE9 - FRMD6_HUMAN

Protein

FERM domain-containing protein 6

Gene

FRMD6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. apical constriction Source: Ensembl
    2. cellular protein localization Source: Ensembl
    3. regulation of actin filament-based process Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    FERM domain-containing protein 6
    Alternative name(s):
    Willin
    Gene namesi
    Name:FRMD6
    Synonyms:C14orf31
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:19839. FRMD6.

    Subcellular locationi

    Cytoplasm 1 Publication. Cell membrane 1 Publication; Peripheral membrane protein 1 Publication; Cytoplasmic side 1 Publication
    Note: Can colocalize with actin.

    GO - Cellular componenti

    1. apical junction complex Source: Ensembl
    2. cytoplasm Source: UniProtKB-SubCell
    3. cytoskeleton Source: InterPro
    4. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134913028.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 622622FERM domain-containing protein 6PRO_0000219448Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei522 – 5221PhosphoserineBy similarity
    Modified residuei525 – 5251PhosphoserineBy similarity
    Modified residuei544 – 5441Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ96NE9.
    PaxDbiQ96NE9.
    PRIDEiQ96NE9.

    PTM databases

    PhosphoSiteiQ96NE9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96NE9.
    BgeeiQ96NE9.
    CleanExiHS_FRMD6.
    GenevestigatoriQ96NE9.

    Organism-specific databases

    HPAiHPA001297.

    Interactioni

    Protein-protein interaction databases

    BioGridi125795. 7 interactions.
    IntActiQ96NE9. 9 interactions.
    MINTiMINT-1455573.
    STRINGi9606.ENSP00000348550.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96NE9.
    SMRiQ96NE9. Positions 45-325.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini16 – 328313FERMPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi130 – 1334Poly-Tyr
    Compositional biasi506 – 5127Poly-Ser

    Sequence similaritiesi

    Contains 1 FERM domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG272751.
    HOGENOMiHOG000294082.
    HOVERGENiHBG081539.
    InParanoidiQ96NE9.
    KOiK16822.
    OMAiCLAQQCV.
    OrthoDBiEOG7PGDQ8.
    PhylomeDBiQ96NE9.
    TreeFamiTF319780.

    Family and domain databases

    Gene3Di1.20.80.10. 1 hit.
    2.30.29.30. 1 hit.
    InterProiIPR019749. Band_41_domain.
    IPR014352. FERM/acyl-CoA-bd_prot_3-hlx.
    IPR019748. FERM_central.
    IPR000299. FERM_domain.
    IPR018979. FERM_N.
    IPR018980. FERM_PH-like_C.
    IPR011993. PH_like_dom.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view]
    PfamiPF09380. FERM_C. 1 hit.
    PF00373. FERM_M. 1 hit.
    PF09379. FERM_N. 1 hit.
    [Graphical view]
    SMARTiSM00295. B41. 1 hit.
    [Graphical view]
    SUPFAMiSSF47031. SSF47031. 1 hit.
    SSF54236. SSF54236. 1 hit.
    PROSITEiPS50057. FERM_3. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96NE9-1) [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

    MNKLNFHNNR VMQDRRSVCI FLPNDESLNI IINVKILCHQ LLVQVCDLLR    50
    LKDCHLFGLS VIQNNEHVYM ELSQKLYKYC PKEWKKEASK VRQYEVTWGI 100
    DQFGPPMIIH FRVQYYVENG RLISDRAARY YYYWHLRKQV LHSQCVLREE 150
    AYFLLAAFAL QADLGNFKRN KHYGKYFEPE AYFPSWVVSK RGKDYILKHI 200
    PNMHKDQFAL TASEAHLKYI KEAVRLDDVA VHYYRLYKDK REIEASLTLG 250
    LTMRGIQIFQ NLDEEKQLLY DFPWTNVGKL VFVGKKFEIL PDGLPSARKL 300
    IYYTGCPMRS RHLLQLLSNS HRLYMNLQPV LRHIRKLEEN EEKKQYRESY 350
    ISDNLDLDMD QLEKRSRASG SSAGSMKHKR LSRHSTASHS SSHTSGIEAD 400
    TKPRDTGPED SYSSSAIHRK LKTCSSMTSH GSSHTSGVES GGKDRLEEDL 450
    QDDEIEMLVD DPRDLEQMNE ESLEVSPDMC IYITEDMLMS RKLNGHSGLI 500
    VKEIGSSTSS SSETVVKLRG QSTDSLPQTI CRKPKTSTDR HSLSLDDIRL 550
    YQKDFLRIAG LCQDTAQSYT FGCGHELDEE GLYCNSCLAQ QCINIQDAFP 600
    VKRTSKYFSL DLTHDEVPEF VV 622

    Note: No experimental confirmation available.

    Length:622
    Mass (Da):72,044
    Last modified:December 1, 2001 - v1
    Checksum:i8AE617F769B29CF6
    GO
    Isoform 2 (identifier: Q96NE9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         91-98: Missing.

    Show »
    Length:614
    Mass (Da):70,982
    Checksum:i7B5165CC7F3BC191
    GO
    Isoform 3 (identifier: Q96NE9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-358: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:264
    Mass (Da):29,235
    Checksum:i1232D8C9C9542AB2
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti52 – 521K → E in CAI46062. (PubMed:17974005)Curated
    Sequence conflicti67 – 671H → Y in CAI46062. (PubMed:17974005)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 358358Missing in isoform 3. 1 PublicationVSP_008022Add
    BLAST
    Alternative sequencei91 – 988Missing in isoform 2. 3 PublicationsVSP_008023

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK055545 mRNA. Translation: BAB70950.1.
    BX161430 mRNA. Translation: CAD61902.1.
    BX647863 mRNA. Translation: CAI46062.1.
    AL079307 Genomic DNA. No translation available.
    CH471078 Genomic DNA. Translation: EAW65666.1.
    CH471078 Genomic DNA. Translation: EAW65671.1.
    BC020521 mRNA. Translation: AAH20521.1.
    BC029870 mRNA. Translation: AAH29870.1.
    CCDSiCCDS58318.1. [Q96NE9-1]
    CCDS58319.1. [Q96NE9-3]
    CCDS9704.1. [Q96NE9-2]
    RefSeqiNP_001035946.1. NM_001042481.2. [Q96NE9-2]
    NP_001253975.1. NM_001267046.1. [Q96NE9-1]
    NP_001253976.1. NM_001267047.1. [Q96NE9-3]
    NP_689543.1. NM_152330.3. [Q96NE9-2]
    XP_006720092.1. XM_006720029.1. [Q96NE9-1]
    XP_006720093.1. XM_006720030.1. [Q96NE9-2]
    UniGeneiHs.434914.

    Genome annotation databases

    EnsembliENST00000344768; ENSP00000343899; ENSG00000139926. [Q96NE9-1]
    ENST00000356218; ENSP00000348550; ENSG00000139926. [Q96NE9-2]
    ENST00000395718; ENSP00000379068; ENSG00000139926. [Q96NE9-2]
    ENST00000553556; ENSP00000452529; ENSG00000139926. [Q96NE9-3]
    GeneIDi122786.
    KEGGihsa:122786.
    UCSCiuc001wzb.4. human. [Q96NE9-2]
    uc001wzd.3. human. [Q96NE9-1]
    uc001wzg.3. human. [Q96NE9-3]

    Polymorphism databases

    DMDMi34098678.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK055545 mRNA. Translation: BAB70950.1 .
    BX161430 mRNA. Translation: CAD61902.1 .
    BX647863 mRNA. Translation: CAI46062.1 .
    AL079307 Genomic DNA. No translation available.
    CH471078 Genomic DNA. Translation: EAW65666.1 .
    CH471078 Genomic DNA. Translation: EAW65671.1 .
    BC020521 mRNA. Translation: AAH20521.1 .
    BC029870 mRNA. Translation: AAH29870.1 .
    CCDSi CCDS58318.1. [Q96NE9-1 ]
    CCDS58319.1. [Q96NE9-3 ]
    CCDS9704.1. [Q96NE9-2 ]
    RefSeqi NP_001035946.1. NM_001042481.2. [Q96NE9-2 ]
    NP_001253975.1. NM_001267046.1. [Q96NE9-1 ]
    NP_001253976.1. NM_001267047.1. [Q96NE9-3 ]
    NP_689543.1. NM_152330.3. [Q96NE9-2 ]
    XP_006720092.1. XM_006720029.1. [Q96NE9-1 ]
    XP_006720093.1. XM_006720030.1. [Q96NE9-2 ]
    UniGenei Hs.434914.

    3D structure databases

    ProteinModelPortali Q96NE9.
    SMRi Q96NE9. Positions 45-325.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125795. 7 interactions.
    IntActi Q96NE9. 9 interactions.
    MINTi MINT-1455573.
    STRINGi 9606.ENSP00000348550.

    PTM databases

    PhosphoSitei Q96NE9.

    Polymorphism databases

    DMDMi 34098678.

    Proteomic databases

    MaxQBi Q96NE9.
    PaxDbi Q96NE9.
    PRIDEi Q96NE9.

    Protocols and materials databases

    DNASUi 122786.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000344768 ; ENSP00000343899 ; ENSG00000139926 . [Q96NE9-1 ]
    ENST00000356218 ; ENSP00000348550 ; ENSG00000139926 . [Q96NE9-2 ]
    ENST00000395718 ; ENSP00000379068 ; ENSG00000139926 . [Q96NE9-2 ]
    ENST00000553556 ; ENSP00000452529 ; ENSG00000139926 . [Q96NE9-3 ]
    GeneIDi 122786.
    KEGGi hsa:122786.
    UCSCi uc001wzb.4. human. [Q96NE9-2 ]
    uc001wzd.3. human. [Q96NE9-1 ]
    uc001wzg.3. human. [Q96NE9-3 ]

    Organism-specific databases

    CTDi 122786.
    GeneCardsi GC14P051955.
    H-InvDB HIX0011651.
    HIX0023243.
    HGNCi HGNC:19839. FRMD6.
    HPAi HPA001297.
    MIMi 614555. gene.
    neXtProti NX_Q96NE9.
    PharmGKBi PA134913028.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG272751.
    HOGENOMi HOG000294082.
    HOVERGENi HBG081539.
    InParanoidi Q96NE9.
    KOi K16822.
    OMAi CLAQQCV.
    OrthoDBi EOG7PGDQ8.
    PhylomeDBi Q96NE9.
    TreeFami TF319780.

    Miscellaneous databases

    GeneWikii FRMD6.
    GenomeRNAii 122786.
    NextBioi 81001.
    PROi Q96NE9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96NE9.
    Bgeei Q96NE9.
    CleanExi HS_FRMD6.
    Genevestigatori Q96NE9.

    Family and domain databases

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

    Publicationsi

    1. "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).
      Tissue: Hair follicle dermal papilla.
    2. "Full-length cDNA libraries and normalization."
      Li W.B., Gruber C., Jessee J., Polayes D.
      Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Placenta.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Fetal skin and Uterus.
    4. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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 2 AND 3).
      Tissue: Brain and Uterus.
    7. Cited for: SUBCELLULAR LOCATION.
    8. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-544, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiFRMD6_HUMAN
    AccessioniPrimary (citable) accession number: Q96NE9
    Secondary accession number(s): D3DSB9
    , Q5HYF2, Q8N2X1, Q8WUH7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 15, 2003
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 105 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 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3