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Protein

FERM domain-containing protein 7

Gene

FRMD7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability.By similarity2 Publications

GO - Biological processi

  1. regulation of neuron projection development Source: UniProtKB
Complete GO annotation...

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 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:8079. FRMD7.

Subcellular locationi

  1. Cell projection By similarity
  2. Cell projectiongrowth cone By similarity

  3. 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: UniProtKB
  3. growth cone Source: UniProtKB
  4. neuronal cell body Source: UniProtKB
  5. neuron projection Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Involvement in diseasei

Nystagmus congenital X-linked 1 (NYS1)12 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:310700
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141Missing in NYS1. 1 Publication
VAR_062650
Natural varianti16 – 161F → S in NYS1. 1 Publication
VAR_072102
Natural varianti24 – 241G → E in NYS1. 1 Publication
VAR_028951
Natural varianti24 – 241G → R in NYS1. 3 Publications
VAR_028952
Natural varianti24 – 241G → W in NYS1. 1 Publication
VAR_062651
Natural varianti142 – 1421L → R in NYS1. 2 Publications
VAR_028953
Natural varianti146 – 1461R → W in NYS1. 1 Publication
VAR_062652
Natural varianti208 – 2081H → R in NYS1. 1 Publication
VAR_072103
Natural varianti212 – 2121L → P in NYS1; decreased RAC1 activity. 1 Publication
VAR_072104
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. 2 Publications
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. 2 Publications
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. 2 Publications
VAR_028957
Natural varianti271 – 2711C → F in NYS1. 2 Publications
VAR_062658
Natural varianti271 – 2711C → S in NYS1. 1 Publication
VAR_072105
Natural varianti271 – 2711C → Y in NYS1. 2 Publications
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 varianti306 – 3061Q → R in NYS1. 1 Publication
VAR_072106
Natural varianti340 – 3401S → L in NYS1. 2 Publications
VAR_028961

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiFRMD7.
DMDMi74749680.

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.3 Publications

Gene expression databases

BgeeiQ6ZUT3.
CleanExiHS_FRMD7.
ExpressionAtlasiQ6ZUT3. baseline and differential.
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.
GeneTreeiENSGT00760000118823.
HOGENOMiHOG000231290.
HOVERGENiHBG080212.
InParanoidiQ6ZUT3.
OMAiPQVFFYV.
OrthoDBiEOG7B5WVD.
PhylomeDBiQ6ZUT3.
TreeFamiTF317513.

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR019749. Band_41_domain.
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. AlignAdd to basket

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

        10         20         30         40         50
MLHLKVQFLD DSQKIFVVDQ KSSGKALFNL SCSHLNLAEK EYFGLEFCSH
60 70 80 90 100
SGNNVWLELL KPITKQVKNP KEIVFKFMVK FFPVDPGHLR EELTRYLFTL
110 120 130 140 150
QIKKDLALGR LPCSDNCTAL MVSHILQSEL GDFHEETDRK HLAQTRYLPN
160 170 180 190 200
QDCLEGKIMH FHQKHIGRSP AESDILLLDI ARKLDMYGIR PHPASDGEGM
210 220 230 240 250
QIHLAVAHMG VLVLRGNTKI NTFNWAKIRK LSFKRKHFLI KLHANILVLC
260 270 280 290 300
KDTLEFTMAS RDACKAFWKT CVEYHAFFRL SEEPKSKPKT LLCSKGSSFR
310 320 330 340 350
YSGRTQRQLL EYGRKGRLKS LPFERKHYPS QYHERQCRSS PDLLSDVSKQ
360 370 380 390 400
VEDLRLAYGG GYYQNVNGVH ASEPVLESRR RNSALEVTFA TELEHSKPEA
410 420 430 440 450
DPTLLHQSQS SSSFPFIYMD PVFNTEPNPN PDPRDIFSER SSLSSFQTSC
460 470 480 490 500
KFSGNHMSIY SGLTSKVRPA KQLTYTDVPY IPCTGQQVGI MPPQVFFYVD
510 520 530 540 550
KPPQVPRWSP IRAEERTSPH SYVEPTAMKP AERSPRNIRM KSFQQDLQVL
560 570 580 590 600
QEAIARTSGR SNINVGLEEE DPNLEDAFVC NIQEQTPKRS QSQSDMKTIR
610 620 630 640 650
FPFGSEFRPL GPCPALSHKA DLFTDMFAEQ ELPAVLMDQS TAERYVASES
660 670 680 690 700
SDSESEILKP DYYALYGKEI RSPMARIRLS SGSLQLDEED EDAYFNTPTA
710
EDRTSLKPCN YFLA
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 varianti16 – 161F → S in NYS1. 1 Publication
VAR_072102
Natural varianti24 – 241G → E in NYS1. 1 Publication
VAR_028951
Natural varianti24 – 241G → R in NYS1. 3 Publications
VAR_028952
Natural varianti24 – 241G → W in NYS1. 1 Publication
VAR_062651
Natural varianti142 – 1421L → R in NYS1. 2 Publications
VAR_028953
Natural varianti146 – 1461R → W in NYS1. 1 Publication
VAR_062652
Natural varianti208 – 2081H → R in NYS1. 1 Publication
VAR_072103
Natural varianti212 – 2121L → P in NYS1; decreased RAC1 activity. 1 Publication
VAR_072104
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. 2 Publications
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. 2 Publications
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. 2 Publications
VAR_028957
Natural varianti271 – 2711C → F in NYS1. 2 Publications
VAR_062658
Natural varianti271 – 2711C → S in NYS1. 1 Publication
VAR_072105
Natural varianti271 – 2711C → Y in NYS1. 2 Publications
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 varianti306 – 3061Q → R in NYS1. 1 Publication
VAR_072106
Natural varianti340 – 3401S → L in NYS1. 2 Publications
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:
EMBLi
GenBanki
DDBJi
Links Updated
FJ717411 mRNA. Translation: ACN56448.1.
AK125336 mRNA. Translation: BAC86135.1.
AL049792 Genomic DNA. No translation available.
AL109749 Genomic DNA. No translation available.
BC114371 mRNA. Translation: AAI14372.1.
CCDSiCCDS35397.1. [Q6ZUT3-1]
RefSeqiNP_919253.1. NM_194277.2. [Q6ZUT3-1]
XP_005262550.1. XM_005262493.2. [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 and mutation databases

BioMutaiFRMD7.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

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

3D structure databases

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

Protein-protein interaction databases

STRINGi9606.ENSP00000298542.

PTM databases

PhosphoSiteiQ6ZUT3.

Polymorphism and mutation databases

BioMutaiFRMD7.
DMDMi74749680.

Proteomic databases

MaxQBiQ6ZUT3.
PaxDbiQ6ZUT3.
PRIDEiQ6ZUT3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi90167.
GeneCardsiGC0XM131211.
GeneReviewsiFRMD7.
HGNCiHGNC:8079. FRMD7.
HPAiHPA000886.
MIMi300628. gene.
310700. phenotype.
neXtProtiNX_Q6ZUT3.
Orphaneti651. Idiopathic infantile nystagmus.
PharmGKBiPA162388934.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG282099.
GeneTreeiENSGT00760000118823.
HOGENOMiHOG000231290.
HOVERGENiHBG080212.
InParanoidiQ6ZUT3.
OMAiPQVFFYV.
OrthoDBiEOG7B5WVD.
PhylomeDBiQ6ZUT3.
TreeFamiTF317513.

Miscellaneous databases

GeneWikiiFRMD7.
GenomeRNAii90167.
NextBioi76567.
PROiQ6ZUT3.
SOURCEiSearch...

Gene expression databases

BgeeiQ6ZUT3.
CleanExiHS_FRMD7.
ExpressionAtlasiQ6ZUT3. baseline and differential.
GenevestigatoriQ6ZUT3.

Family and domain databases

Gene3Di1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR019749. Band_41_domain.
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]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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: INVOLVEMENT IN NYS1, 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, FUNCTION, 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. "X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7."
    Shiels A., Bennett T.M., Prince J.B., Tychsen L.
    Mol. Vis. 13:2233-2241(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN NYS1, VARIANT NYS1 ARG-142.
  11. "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.
  12. "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.
  13. "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.
  14. Cited for: INVOLVEMENT IN NYS1, VARIANTS NYS1 SER-16; ARG-24; THR-226; VAL-231; PRO-266; SER-271; TYR-271 AND LEU-340, DEVELOPMENTAL STAGE.
  15. "Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus."
    Li N., Wang X., Wang Y., Wang L., Ying M., Han R., Liu Y., Zhao K.
    Mol. Vis. 17:461-468(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NYS1 ARG-208.
  16. "Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus."
    Radhakrishna U., Ratnamala U., Deutsch S., Bartoloni L., Kuracha M.R., Singh R., Banwait J., Bastola D.K., Johar K., Nath S.K., Antonarakis S.E.
    Eur. J. Hum. Genet. 20:1032-1036(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NYS1 ARG-306.
  17. "A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family."
    Liu Z., Mao S., Pu J., Ding Y., Zhang B., Ding M.
    Mol. Vis. 19:1834-1840(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NYS1 PRO-212, CHARACTERIZATION OF VARIANT NYS1 PRO-212, FUNCTION.

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: April 29, 2015
This is version 101 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.