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Q6ZUT3 (FRMD7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
FERM domain-containing protein 7
Gene names
Name:FRMD7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length714 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

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.

Tissue specificity

Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina. Ref.6

Developmental stage

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. Ref.5 Ref.6

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12

Sequence similarities

Contains 1 FERM domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6ZUT3-1)

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.
Isoform 2 (identifier: Q6ZUT3-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 714714FERM domain-containing protein 7
PRO_0000259532

Regions

Domain2 – 282281FERM
Coiled coil537 – 55822 Potential

Natural variations

Alternative sequence69 – 8416NPKEI…KFFPV → M in isoform 2.
VSP_038722
Natural variant141Missing in NYS1. Ref.8
VAR_062650
Natural variant241G → E in NYS1. Ref.6
VAR_028951
Natural variant241G → R in NYS1. Ref.6 Ref.8
VAR_028952
Natural variant241G → W in NYS1. Ref.12
VAR_062651
Natural variant1421L → R in NYS1. Ref.6
VAR_028953
Natural variant1461R → W in NYS1. Ref.8
VAR_062652
Natural variant2211N → D in NYS1. Ref.6
VAR_028954
Natural variant2251W → G in NYS1. Ref.7
VAR_062653
Natural variant2261A → T in NYS1. Ref.6
VAR_028955
Natural variant2291R → C in NYS1. Ref.8
VAR_062654
Natural variant2291R → G in NYS1. Ref.10
VAR_062655
Natural variant2311L → V in NYS1. Ref.6
VAR_028956
Natural variant2611R → G in NYS1. Ref.9
VAR_062656
Natural variant2611R → Q in NYS1. Ref.12
VAR_062657
Natural variant2661A → P in NYS1. Ref.6
VAR_028957
Natural variant2711C → F in NYS1. Ref.11 Ref.12
VAR_062658
Natural variant2711C → Y in NYS1. Ref.6
VAR_028958
Natural variant2751H → P in NYS1. Ref.7
VAR_062659
Natural variant2811S → L.
Corresponds to variant rs5977625 [ dbSNP | Ensembl ].
VAR_028959
Natural variant2961G → R in NYS1. Ref.9
VAR_062660
Natural variant3011Y → C in NYS1. Ref.6
VAR_028960
Natural variant3401S → L in NYS1. Ref.6
VAR_028961
Natural variant4681R → H.
Corresponds to variant rs6637934 [ dbSNP | Ensembl ].
VAR_028962

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: 7AD1D96FD4585217

FASTA71481,614
        10         20         30         40         50         60 
MLHLKVQFLD DSQKIFVVDQ KSSGKALFNL SCSHLNLAEK EYFGLEFCSH SGNNVWLELL 

        70         80         90        100        110        120 
KPITKQVKNP KEIVFKFMVK FFPVDPGHLR EELTRYLFTL QIKKDLALGR LPCSDNCTAL 

       130        140        150        160        170        180 
MVSHILQSEL GDFHEETDRK HLAQTRYLPN QDCLEGKIMH FHQKHIGRSP AESDILLLDI 

       190        200        210        220        230        240 
ARKLDMYGIR PHPASDGEGM QIHLAVAHMG VLVLRGNTKI NTFNWAKIRK LSFKRKHFLI 

       250        260        270        280        290        300 
KLHANILVLC KDTLEFTMAS RDACKAFWKT CVEYHAFFRL SEEPKSKPKT LLCSKGSSFR 

       310        320        330        340        350        360 
YSGRTQRQLL EYGRKGRLKS LPFERKHYPS QYHERQCRSS PDLLSDVSKQ VEDLRLAYGG 

       370        380        390        400        410        420 
GYYQNVNGVH ASEPVLESRR RNSALEVTFA TELEHSKPEA DPTLLHQSQS SSSFPFIYMD 

       430        440        450        460        470        480 
PVFNTEPNPN PDPRDIFSER SSLSSFQTSC KFSGNHMSIY SGLTSKVRPA KQLTYTDVPY 

       490        500        510        520        530        540 
IPCTGQQVGI MPPQVFFYVD KPPQVPRWSP IRAEERTSPH SYVEPTAMKP AERSPRNIRM 

       550        560        570        580        590        600 
KSFQQDLQVL QEAIARTSGR SNINVGLEEE DPNLEDAFVC NIQEQTPKRS QSQSDMKTIR 

       610        620        630        640        650        660 
FPFGSEFRPL GPCPALSHKA DLFTDMFAEQ ELPAVLMDQS TAERYVASES SDSESEILKP 

       670        680        690        700        710 
DYYALYGKEI RSPMARIRLS SGSLQLDEED EDAYFNTPTA EDRTSLKPCN YFLA 

« Hide

Isoform 2 [UniParc].

Checksum: A6441806524D27FD
Show »

FASTA69979,793

References

« Hide 'large scale' references
[1]"Cloning and identification of a novel splice variant of human FRMD7."
Zhang B., Xu S., Liu Z.
Submitted (FEB-2009) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[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. expand/collapse author list , 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. expand/collapse author list , 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]"Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus."
Tarpey P., Thomas S., Sarvananthan N., Mallya U., Lisgo S., Talbot C.J., Roberts E.O., Awan M., Surendran M., McLean R.J., Reinecke R.D., Langmann A., Lindner S., Koch M., Jain S., Woodruff G., Gale R.P., Degg C. expand/collapse author list , Droutsas K., Asproudis I., Zubcov A.A., Pieh C., Veal C.D., Machado R.D., Backhouse O.C., Baumber L., Constantinescu C.S., Brodsky M.C., Hunter D.G., Hertle R.W., Read R.J., Edkins S., O'meara S., Parker A., Stevens C., Teague J., Wooster R., Futreal P.A., Trembath R.C., Stratton M.R., Raymond F.L., Gottlob I.
Nat. Genet. 38:1242-1244(2006) [PubMed] [Europe PMC] [Abstract]
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]"Novel mutations in FRMD7 in X-linked congenital nystagmus."
Schorderet D.F., Tiab L., Gaillard M.C., Lorenz B., Klainguti G., Kerrison J.B., Traboulsi E.I., Munier F.L.
Hum. Mutat. 28:525-525(2007) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_919253.1. NM_194277.2.
XP_005262550.1. XM_005262493.1.
UniGeneHs.170776.

3D structure databases

ProteinModelPortalQ6ZUT3.
SMRQ6ZUT3. Positions 3-355.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000298542.

PTM databases

PhosphoSiteQ6ZUT3.

Polymorphism databases

DMDM74749680.

Proteomic databases

PaxDbQ6ZUT3.
PRIDEQ6ZUT3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000298542; ENSP00000298542; ENSG00000165694. [Q6ZUT3-1]
ENST00000464296; ENSP00000417996; ENSG00000165694. [Q6ZUT3-2]
GeneID90167.
KEGGhsa:90167.
UCSCuc004ewn.3. human. [Q6ZUT3-1]
uc011muy.2. human. [Q6ZUT3-2]

Organism-specific databases

CTD90167.
GeneCardsGC0XM131211.
HGNCHGNC:8079. FRMD7.
HPAHPA000886.
MIM300628. gene.
310700. phenotype.
neXtProtNX_Q6ZUT3.
Orphanet651. Idiopathic infantile nystagmus.
PharmGKBPA162388934.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG282099.
HOGENOMHOG000231290.
HOVERGENHBG080212.
InParanoidQ6ZUT3.
OMAFPFGSEF.
OrthoDBEOG7B5WVD.
PhylomeDBQ6ZUT3.
TreeFamTF317513.

Gene expression databases

BgeeQ6ZUT3.
CleanExHS_FRMD7.
GenevestigatorQ6ZUT3.

Family and domain databases

Gene3D1.20.80.10. 1 hit.
2.30.29.30. 1 hit.
InterProIPR019749. 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.
[Graphical view]
PfamPF08736. FA. 1 hit.
PF09380. FERM_C. 1 hit.
PF00373. FERM_M. 1 hit.
PF09379. FERM_N. 1 hit.
[Graphical view]
PRINTSPR00935. BAND41.
SMARTSM00295. B41. 1 hit.
[Graphical view]
SUPFAMSSF47031. SSF47031. 1 hit.
PROSITEPS00660. FERM_1. 1 hit.
PS50057. FERM_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFRMD7.
GenomeRNAi90167.
NextBio76567.
PROQ6ZUT3.
SOURCESearch...

Entry information

Entry nameFRMD7_HUMAN
AccessionPrimary (citable) accession number: Q6ZUT3
Secondary accession number(s): C0LLJ3, Q5JX99
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 92 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM