FRMD7_HUMAN
ID FRMD7_HUMAN Reviewed; 714 AA.
AC Q6ZUT3; C0LLJ3; Q5JX99;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=FERM domain-containing protein 7;
GN Name=FRMD7;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND ALTERNATIVE SPLICING.
RX PubMed=22128244;
RA Li Y., Pu J., Liu Z., Xu S., Jin F., Zhu L., Tian J., Luo J., Zhang B.;
RT "Identification of a novel FRMD7 splice variant and functional analysis of
RT two FRMD7 transcripts during human NT2 cell differentiation.";
RL Mol. Vis. 17:2986-2996(2011).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP DEVELOPMENTAL STAGE.
RX PubMed=19892780; DOI=10.1093/hmg/ddp500;
RA Betts-Henderson J., Bartesaghi S., Crosier M., Lindsay S., Chen H.L.,
RA Salomoni P., Gottlob I., Nicotera P.;
RT "The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and
RT development.";
RL Hum. Mol. Genet. 19:342-351(2010).
RN [6]
RP INVOLVEMENT IN NYS1, VARIANTS NYS1 ARG-24; GLU-24; ARG-142; ASP-221;
RP THR-226; VAL-231; PRO-266; TYR-271; CYS-301 AND LEU-340, TISSUE
RP SPECIFICITY, FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=17013395; DOI=10.1038/ng1893;
RA Tarpey P., Thomas S., Sarvananthan N., Mallya U., Lisgo S., Talbot C.J.,
RA Roberts E.O., Awan M., Surendran M., McLean R.J., Reinecke R.D.,
RA Langmann A., Lindner S., Koch M., Jain S., Woodruff G., Gale R.P., Degg C.,
RA Droutsas K., Asproudis I., Zubcov A.A., Pieh C., Veal C.D., Machado R.D.,
RA Backhouse O.C., Baumber L., Constantinescu C.S., Brodsky M.C., Hunter D.G.,
RA Hertle R.W., Read R.J., Edkins S., O'meara S., Parker A., Stevens C.,
RA Teague J., Wooster R., Futreal P.A., Trembath R.C., Stratton M.R.,
RA Raymond F.L., Gottlob I.;
RT "Mutations in FRMD7, a newly identified member of the FERM family, cause X-
RT linked idiopathic congenital nystagmus.";
RL Nat. Genet. 38:1242-1244(2006).
RN [7]
RP VARIANTS NYS1 GLY-225 AND PRO-275.
RX PubMed=17397053; DOI=10.1002/humu.9492;
RA Schorderet D.F., Tiab L., Gaillard M.C., Lorenz B., Klainguti G.,
RA Kerrison J.B., Traboulsi E.I., Munier F.L.;
RT "Novel mutations in FRMD7 in X-linked congenital nystagmus.";
RL Hum. Mutat. 28:525-525(2007).
RN [8]
RP VARIANTS NYS1 LYS-14 DEL; ARG-24; TRP-146 AND CYS-229.
RX PubMed=17768376;
RA Zhang Q., Xiao X., Li S., Guo X.;
RT "FRMD7 mutations in Chinese families with X-linked congenital motor
RT nystagmus.";
RL Mol. Vis. 13:1375-1378(2007).
RN [9]
RP VARIANTS NYS1 GLY-261 AND ARG-296.
RX PubMed=17893669;
RA Zhang B., Liu Z., Zhao G., Xie X., Yin X., Hu Z., Xu S., Li Q., Song F.,
RA Tian J., Luo W., Ding M., Yin J., Xia K., Xia J.;
RT "Novel mutations of the FRMD7 gene in X-linked congenital motor
RT nystagmus.";
RL Mol. Vis. 13:1674-1679(2007).
RN [10]
RP INVOLVEMENT IN NYS1, AND VARIANT NYS1 ARG-142.
RX PubMed=18087240;
RA Shiels A., Bennett T.M., Prince J.B., Tychsen L.;
RT "X-linked idiopathic infantile nystagmus associated with a missense
RT mutation in FRMD7.";
RL Mol. Vis. 13:2233-2241(2007).
RN [11]
RP VARIANT NYS1 GLY-229.
RX PubMed=17962394; DOI=10.1136/bjo.2007.128157;
RA Kaplan Y., Vargel I., Kansu T., Akin B., Rohmann E., Kamaci S., Uz E.,
RA Ozcelik T., Wollnik B., Akarsu N.A.;
RT "Skewed X inactivation in an X linked nystagmus family resulted from a
RT novel, p.R229G, missense mutation in the FRMD7 gene.";
RL Br. J. Ophthalmol. 92:135-141(2008).
RN [12]
RP VARIANT NYS1 PHE-271.
RX PubMed=18246032;
RA He X., Gu F., Wang Y., Yan J., Zhang M., Huang S., Ma X.;
RT "A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus
RT in a large family.";
RL Mol. Vis. 14:56-60(2008).
RN [13]
RP VARIANTS NYS1 TRP-24; GLN-261 AND PHE-271.
RX PubMed=18431453;
RA Li N., Wang L., Cui L., Zhang L., Dai S., Li H., Chen X., Zhu L.,
RA Hejtmancik J.F., Zhao K.;
RT "Five novel mutations of the FRMD7 gene in Chinese families with X-linked
RT infantile nystagmus.";
RL Mol. Vis. 14:733-738(2008).
RN [14]
RP INVOLVEMENT IN NYS1, VARIANTS NYS1 SER-16; ARG-24; THR-226; VAL-231;
RP PRO-266; SER-271; TYR-271 AND LEU-340, AND DEVELOPMENTAL STAGE.
RX PubMed=21303855; DOI=10.1093/brain/awq373;
RA Thomas M.G., Crosier M., Lindsay S., Kumar A., Thomas S., Araki M.,
RA Talbot C.J., McLean R.J., Surendran M., Taylor K., Leroy B.P., Moore A.T.,
RA Hunter D.G., Hertle R.W., Tarpey P., Langmann A., Lindner S., Brandner M.,
RA Gottlob I.;
RT "The clinical and molecular genetic features of idiopathic infantile
RT periodic alternating nystagmus.";
RL Brain 134:892-902(2011).
RN [15]
RP VARIANT NYS1 ARG-208.
RX PubMed=21365021;
RA Li N., Wang X., Wang Y., Wang L., Ying M., Han R., Liu Y., Zhao K.;
RT "Investigation of the gene mutations in two Chinese families with X-linked
RT infantile nystagmus.";
RL Mol. Vis. 17:461-468(2011).
RN [16]
RP VARIANT NYS1 ARG-306.
RX PubMed=22490987; DOI=10.1038/ejhg.2012.60;
RA Radhakrishna U., Ratnamala U., Deutsch S., Bartoloni L., Kuracha M.R.,
RA Singh R., Banwait J., Bastola D.K., Johar K., Nath S.K., Antonarakis S.E.;
RT "Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations
RT segregated in the same consanguineous family with congenital X-linked
RT nystagmus.";
RL Eur. J. Hum. Genet. 20:1032-1036(2012).
RN [17]
RP VARIANT NYS1 PRO-212, CHARACTERIZATION OF VARIANT NYS1 PRO-212, AND
RP FUNCTION.
RX PubMed=23946638;
RA Liu Z., Mao S., Pu J., Ding Y., Zhang B., Ding M.;
RT "A novel missense mutation in the FERM domain containing 7 (FRMD7) gene
RT causing X-linked idiopathic congenital nystagmus in a Chinese family.";
RL Mol. Vis. 19:1834-1840(2013).
CC -!- FUNCTION: Plays a role in neurite development, may be through the
CC activation of the GTPase RAC1. Plays a role in the control of eye
CC movement and gaze stability. {ECO:0000250|UniProtKB:A2AD83,
CC ECO:0000269|PubMed:17013395, ECO:0000269|PubMed:23946638}.
CC -!- INTERACTION:
CC Q6ZUT3; P54105: CLNS1A; NbExp=3; IntAct=EBI-12325851, EBI-724693;
CC -!- SUBCELLULAR LOCATION: Cell projection, neuron projection
CC {ECO:0000250|UniProtKB:A2AD83}. Cell projection, growth cone
CC {ECO:0000250|UniProtKB:A2AD83}. Note=In undifferentiated neurons,
CC located in the actin-rich regions of the cell body. In differentiated
CC neurons, located in the actin-rich regions of the cell body and primary
CC neurite processes but is almost absent from secondary extensions
CC arising from the primary neurite. Also found at the actin-rich distal
CC end of growth cones (By similarity). {ECO:0000250|UniProtKB:A2AD83}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZUT3-1; Sequence=Displayed;
CC Name=2; Synonyms=S;
CC IsoId=Q6ZUT3-2; Sequence=VSP_038722;
CC -!- TISSUE SPECIFICITY: Expressed in liver, kidney, pancreas and at low
CC levels in brain and heart. Expressed in embryonic brain and developing
CC neural retina. {ECO:0000269|PubMed:17013395}.
CC -!- DEVELOPMENTAL STAGE: In 37 day post-ovulation (dpo) embryos, expression
CC is found in the mid- and hindbrain, regions known to be involved in
CC motor control of eye movement, and in the ventricular zone of the
CC forebrain. In 56 dpo embryos, expressed in the ventricular layer of the
CC forebrain, midbrain, cerebellar primordium, spinal cord and the
CC developing neural retina. In later development, highly expressed in
CC postmitotic cells within the developing subplate and cortical plate.
CC {ECO:0000269|PubMed:17013395, ECO:0000269|PubMed:19892780,
CC ECO:0000269|PubMed:21303855}.
CC -!- DISEASE: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]: A
CC condition defined as conjugated, spontaneous and involuntary ocular
CC oscillations that appear at birth or during the first three months of
CC life. Other associated features may include mildly decreased visual
CC acuity, strabismus, astigmatism, and occasionally head nodding.
CC {ECO:0000269|PubMed:17013395, ECO:0000269|PubMed:17397053,
CC ECO:0000269|PubMed:17768376, ECO:0000269|PubMed:17893669,
CC ECO:0000269|PubMed:17962394, ECO:0000269|PubMed:18087240,
CC ECO:0000269|PubMed:18246032, ECO:0000269|PubMed:18431453,
CC ECO:0000269|PubMed:21303855, ECO:0000269|PubMed:21365021,
CC ECO:0000269|PubMed:22490987, ECO:0000269|PubMed:23946638}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- MISCELLANEOUS: [Isoform 2]: May play a role during neuronal
CC differentiation and development. Shares a similar tissue distribution,
CC co-localize with, and interact with isoform 1 in NT2 cells.
CC {ECO:0000305}.
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DR EMBL; FJ717411; ACN56448.1; -; mRNA.
DR EMBL; AK125336; BAC86135.1; -; mRNA.
DR EMBL; AL049792; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL109749; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC114371; AAI14372.1; -; mRNA.
DR CCDS; CCDS35397.1; -. [Q6ZUT3-1]
DR CCDS; CCDS78504.1; -. [Q6ZUT3-2]
DR RefSeq; NP_001293122.1; NM_001306193.1. [Q6ZUT3-2]
DR RefSeq; NP_919253.1; NM_194277.2. [Q6ZUT3-1]
DR AlphaFoldDB; Q6ZUT3; -.
DR SMR; Q6ZUT3; -.
DR BioGRID; 124672; 3.
DR IntAct; Q6ZUT3; 1.
DR STRING; 9606.ENSP00000298542; -.
DR TCDB; 8.A.25.1.5; the ezrin/radixin/moesin (ezrin) family.
DR iPTMnet; Q6ZUT3; -.
DR PhosphoSitePlus; Q6ZUT3; -.
DR BioMuta; FRMD7; -.
DR DMDM; 74749680; -.
DR MaxQB; Q6ZUT3; -.
DR PaxDb; Q6ZUT3; -.
DR PeptideAtlas; Q6ZUT3; -.
DR PRIDE; Q6ZUT3; -.
DR Antibodypedia; 430; 107 antibodies from 15 providers.
DR DNASU; 90167; -.
DR Ensembl; ENST00000298542.9; ENSP00000298542.3; ENSG00000165694.11. [Q6ZUT3-1]
DR Ensembl; ENST00000464296.1; ENSP00000417996.1; ENSG00000165694.11. [Q6ZUT3-2]
DR GeneID; 90167; -.
DR KEGG; hsa:90167; -.
DR MANE-Select; ENST00000298542.9; ENSP00000298542.3; NM_194277.3; NP_919253.1.
DR UCSC; uc004ewn.4; human. [Q6ZUT3-1]
DR CTD; 90167; -.
DR DisGeNET; 90167; -.
DR GeneCards; FRMD7; -.
DR GeneReviews; FRMD7; -.
DR HGNC; HGNC:8079; FRMD7.
DR HPA; ENSG00000165694; Group enriched (endometrium, kidney, smooth muscle).
DR MalaCards; FRMD7; -.
DR MIM; 300628; gene.
DR MIM; 310700; phenotype.
DR neXtProt; NX_Q6ZUT3; -.
DR OpenTargets; ENSG00000165694; -.
DR Orphanet; 651; NON RARE IN EUROPE: Idiopathic infantile nystagmus.
DR PharmGKB; PA162388934; -.
DR VEuPathDB; HostDB:ENSG00000165694; -.
DR eggNOG; KOG3531; Eukaryota.
DR GeneTree; ENSGT00940000158972; -.
DR HOGENOM; CLU_030239_0_0_1; -.
DR InParanoid; Q6ZUT3; -.
DR OMA; ERPDSCL; -.
DR OrthoDB; 476668at2759; -.
DR PhylomeDB; Q6ZUT3; -.
DR TreeFam; TF317513; -.
DR PathwayCommons; Q6ZUT3; -.
DR SignaLink; Q6ZUT3; -.
DR BioGRID-ORCS; 90167; 8 hits in 692 CRISPR screens.
DR ChiTaRS; FRMD7; human.
DR GeneWiki; FRMD7; -.
DR GenomeRNAi; 90167; -.
DR Pharos; Q6ZUT3; Tbio.
DR PRO; PR:Q6ZUT3; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q6ZUT3; protein.
DR Bgee; ENSG00000165694; Expressed in calcaneal tendon and 40 other tissues.
DR ExpressionAtlas; Q6ZUT3; baseline and differential.
DR Genevisible; Q6ZUT3; HS.
DR GO; GO:0005856; C:cytoskeleton; IEA:InterPro.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005615; C:extracellular space; HDA:UniProtKB.
DR GO; GO:0030426; C:growth cone; ISS:UniProtKB.
DR GO; GO:0043005; C:neuron projection; ISS:UniProtKB.
DR GO; GO:0043025; C:neuronal cell body; ISS:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IBA:GO_Central.
DR GO; GO:0032091; P:negative regulation of protein binding; IEA:Ensembl.
DR GO; GO:0051497; P:negative regulation of stress fiber assembly; IEA:Ensembl.
DR GO; GO:0007399; P:nervous system development; IEA:UniProtKB-KW.
DR GO; GO:0010592; P:positive regulation of lamellipodium assembly; IEA:Ensembl.
DR GO; GO:0051057; P:positive regulation of small GTPase mediated signal transduction; IEA:Ensembl.
DR GO; GO:0010975; P:regulation of neuron projection development; ISS:UniProtKB.
DR CDD; cd14473; FERM_B-lobe; 1.
DR CDD; cd13193; FERM_C_FARP1-like; 1.
DR Gene3D; 1.20.80.10; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR019749; Band_41_domain.
DR InterPro; IPR041788; FARP1/FARP2/FRMD7_FERM_C.
DR InterPro; IPR014847; FERM-adjacent.
DR InterPro; IPR014352; FERM/acyl-CoA-bd_prot_sf.
DR InterPro; IPR035963; FERM_2.
DR InterPro; IPR019748; FERM_central.
DR InterPro; IPR019747; FERM_CS.
DR InterPro; IPR000299; FERM_domain.
DR InterPro; IPR018979; FERM_N.
DR InterPro; IPR018980; FERM_PH-like_C.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR029071; Ubiquitin-like_domsf.
DR Pfam; PF08736; FA; 1.
DR Pfam; PF09380; FERM_C; 1.
DR Pfam; PF00373; FERM_M; 1.
DR Pfam; PF09379; FERM_N; 1.
DR PRINTS; PR00935; BAND41.
DR SMART; SM00295; B41; 1.
DR SMART; SM01195; FA; 1.
DR SMART; SM01196; FERM_C; 1.
DR SUPFAM; SSF47031; SSF47031; 1.
DR SUPFAM; SSF54236; SSF54236; 1.
DR PROSITE; PS00660; FERM_1; 1.
DR PROSITE; PS50057; FERM_3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Coiled coil; Disease variant;
KW Neurogenesis; Reference proteome.
FT CHAIN 1..714
FT /note="FERM domain-containing protein 7"
FT /id="PRO_0000259532"
FT DOMAIN 2..282
FT /note="FERM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00084"
FT COILED 537..558
FT /evidence="ECO:0000255"
FT VAR_SEQ 69..84
FT /note="NPKEIVFKFMVKFFPV -> M (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:22128244"
FT /id="VSP_038722"
FT VARIANT 14
FT /note="Missing (in NYS1)"
FT /evidence="ECO:0000269|PubMed:17768376"
FT /id="VAR_062650"
FT VARIANT 16
FT /note="F -> S (in NYS1)"
FT /evidence="ECO:0000269|PubMed:21303855"
FT /id="VAR_072102"
FT VARIANT 24
FT /note="G -> E (in NYS1)"
FT /evidence="ECO:0000269|PubMed:17013395"
FT /id="VAR_028951"
FT VARIANT 24
FT /note="G -> R (in NYS1; dbSNP:rs137852210)"
FT /evidence="ECO:0000269|PubMed:17013395,
FT ECO:0000269|PubMed:17768376, ECO:0000269|PubMed:21303855"
FT /id="VAR_028952"
FT VARIANT 24
FT /note="G -> W (in NYS1)"
FT /evidence="ECO:0000269|PubMed:18431453"
FT /id="VAR_062651"
FT VARIANT 142
FT /note="L -> R (in NYS1; dbSNP:rs137852211)"
FT /evidence="ECO:0000269|PubMed:17013395,
FT ECO:0000269|PubMed:18087240"
FT /id="VAR_028953"
FT VARIANT 146
FT /note="R -> W (in NYS1; dbSNP:rs780995406)"
FT /evidence="ECO:0000269|PubMed:17768376"
FT /id="VAR_062652"
FT VARIANT 208
FT /note="H -> R (in NYS1)"
FT /evidence="ECO:0000269|PubMed:21365021"
FT /id="VAR_072103"
FT VARIANT 212
FT /note="L -> P (in NYS1; decreased RAC1 activity)"
FT /evidence="ECO:0000269|PubMed:23946638"
FT /id="VAR_072104"
FT VARIANT 221
FT /note="N -> D (in NYS1)"
FT /evidence="ECO:0000269|PubMed:17013395"
FT /id="VAR_028954"
FT VARIANT 225
FT /note="W -> G (in NYS1)"
FT /evidence="ECO:0000269|PubMed:17397053"
FT /id="VAR_062653"
FT VARIANT 226
FT /note="A -> T (in NYS1)"
FT /evidence="ECO:0000269|PubMed:17013395,
FT ECO:0000269|PubMed:21303855"
FT /id="VAR_028955"
FT VARIANT 229
FT /note="R -> C (in NYS1; dbSNP:rs137852212)"
FT /evidence="ECO:0000269|PubMed:17768376"
FT /id="VAR_062654"
FT VARIANT 229
FT /note="R -> G (in NYS1; dbSNP:rs137852212)"
FT /evidence="ECO:0000269|PubMed:17962394"
FT /id="VAR_062655"
FT VARIANT 231
FT /note="L -> V (in NYS1; dbSNP:rs387906720)"
FT /evidence="ECO:0000269|PubMed:17013395,
FT ECO:0000269|PubMed:21303855"
FT /id="VAR_028956"
FT VARIANT 261
FT /note="R -> G (in NYS1)"
FT /evidence="ECO:0000269|PubMed:17893669"
FT /id="VAR_062656"
FT VARIANT 261
FT /note="R -> Q (in NYS1; dbSNP:rs1332489637)"
FT /evidence="ECO:0000269|PubMed:18431453"
FT /id="VAR_062657"
FT VARIANT 266
FT /note="A -> P (in NYS1)"
FT /evidence="ECO:0000269|PubMed:17013395,
FT ECO:0000269|PubMed:21303855"
FT /id="VAR_028957"
FT VARIANT 271
FT /note="C -> F (in NYS1; dbSNP:rs387906721)"
FT /evidence="ECO:0000269|PubMed:18246032,
FT ECO:0000269|PubMed:18431453"
FT /id="VAR_062658"
FT VARIANT 271
FT /note="C -> S (in NYS1)"
FT /evidence="ECO:0000269|PubMed:21303855"
FT /id="VAR_072105"
FT VARIANT 271
FT /note="C -> Y (in NYS1; dbSNP:rs387906721)"
FT /evidence="ECO:0000269|PubMed:17013395,
FT ECO:0000269|PubMed:21303855"
FT /id="VAR_028958"
FT VARIANT 275
FT /note="H -> P (in NYS1)"
FT /evidence="ECO:0000269|PubMed:17397053"
FT /id="VAR_062659"
FT VARIANT 281
FT /note="S -> L (in dbSNP:rs5977625)"
FT /id="VAR_028959"
FT VARIANT 296
FT /note="G -> R (in NYS1)"
FT /evidence="ECO:0000269|PubMed:17893669"
FT /id="VAR_062660"
FT VARIANT 301
FT /note="Y -> C (in NYS1; dbSNP:rs1297486092)"
FT /evidence="ECO:0000269|PubMed:17013395"
FT /id="VAR_028960"
FT VARIANT 306
FT /note="Q -> R (in NYS1)"
FT /evidence="ECO:0000269|PubMed:22490987"
FT /id="VAR_072106"
FT VARIANT 340
FT /note="S -> L (in NYS1)"
FT /evidence="ECO:0000269|PubMed:17013395,
FT ECO:0000269|PubMed:21303855"
FT /id="VAR_028961"
FT VARIANT 468
FT /note="R -> H (in dbSNP:rs6637934)"
FT /id="VAR_028962"
SQ SEQUENCE 714 AA; 81614 MW; 7AD1D96FD4585217 CRC64;
MLHLKVQFLD DSQKIFVVDQ KSSGKALFNL SCSHLNLAEK EYFGLEFCSH SGNNVWLELL
KPITKQVKNP KEIVFKFMVK FFPVDPGHLR EELTRYLFTL QIKKDLALGR LPCSDNCTAL
MVSHILQSEL GDFHEETDRK HLAQTRYLPN QDCLEGKIMH FHQKHIGRSP AESDILLLDI
ARKLDMYGIR PHPASDGEGM QIHLAVAHMG VLVLRGNTKI NTFNWAKIRK LSFKRKHFLI
KLHANILVLC KDTLEFTMAS RDACKAFWKT CVEYHAFFRL SEEPKSKPKT LLCSKGSSFR
YSGRTQRQLL EYGRKGRLKS LPFERKHYPS QYHERQCRSS PDLLSDVSKQ VEDLRLAYGG
GYYQNVNGVH ASEPVLESRR RNSALEVTFA TELEHSKPEA DPTLLHQSQS SSSFPFIYMD
PVFNTEPNPN PDPRDIFSER SSLSSFQTSC KFSGNHMSIY SGLTSKVRPA KQLTYTDVPY
IPCTGQQVGI MPPQVFFYVD KPPQVPRWSP IRAEERTSPH SYVEPTAMKP AERSPRNIRM
KSFQQDLQVL QEAIARTSGR SNINVGLEEE DPNLEDAFVC NIQEQTPKRS QSQSDMKTIR
FPFGSEFRPL GPCPALSHKA DLFTDMFAEQ ELPAVLMDQS TAERYVASES SDSESEILKP
DYYALYGKEI RSPMARIRLS SGSLQLDEED EDAYFNTPTA EDRTSLKPCN YFLA
