Q6ZUT3 (FRMD7_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 84.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: FERM domain-containing protein 7 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 714 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 projection › growth 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. |
| Sequence similarities | Contains 1 FERM domain. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Neurogenesis |
| Cellular component | Cell projection |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Disease mutation |
| Domain | Coiled coil |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | regulation of neuron projection development Inferred from sequence or structural similarity. Source: UniProtKB |
| Cellular_component | cytoskeleton Inferred from electronic annotation. Source: InterPro growth coneInferred from sequence or structural similarity. Source: UniProtKB neuronal cell bodyInferred from sequence or structural similarity. Source: UniProtKB |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 714 | 714 | FERM domain-containing protein 7 | PRO_0000259532 | |||||
Regions | |||||||||
| Domain | 2 – 282 | 281 | FERM | ||||||
| Coiled coil | 537 – 558 | 22 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 69 – 84 | 16 | NPKEI…KFFPV → M in isoform 2. | VSP_038722 | |||||
| Natural variant | 14 | 1 | Missing in NYS1. Ref.8 | VAR_062650 | |||||
| Natural variant | 24 | 1 | G → E in NYS1. Ref.6 | VAR_028951 | |||||
| Natural variant | 24 | 1 | G → R in NYS1. Ref.6 Ref.8 | VAR_028952 | |||||
| Natural variant | 24 | 1 | G → W in NYS1. Ref.12 | VAR_062651 | |||||
| Natural variant | 142 | 1 | L → R in NYS1. Ref.6 | VAR_028953 | |||||
| Natural variant | 146 | 1 | R → W in NYS1. Ref.8 | VAR_062652 | |||||
| Natural variant | 221 | 1 | N → D in NYS1. Ref.6 | VAR_028954 | |||||
| Natural variant | 225 | 1 | W → G in NYS1. Ref.7 | VAR_062653 | |||||
| Natural variant | 226 | 1 | A → T in NYS1. Ref.6 | VAR_028955 | |||||
| Natural variant | 229 | 1 | R → C in NYS1. Ref.8 | VAR_062654 | |||||
| Natural variant | 229 | 1 | R → G in NYS1. Ref.10 | VAR_062655 | |||||
| Natural variant | 231 | 1 | L → V in NYS1. Ref.6 | VAR_028956 | |||||
| Natural variant | 261 | 1 | R → G in NYS1. Ref.9 | VAR_062656 | |||||
| Natural variant | 261 | 1 | R → Q in NYS1. Ref.12 | VAR_062657 | |||||
| Natural variant | 266 | 1 | A → P in NYS1. Ref.6 | VAR_028957 | |||||
| Natural variant | 271 | 1 | C → F in NYS1. Ref.11 Ref.12 | VAR_062658 | |||||
| Natural variant | 271 | 1 | C → Y in NYS1. Ref.6 | VAR_028958 | |||||
| Natural variant | 275 | 1 | H → P in NYS1. Ref.7 | VAR_062659 | |||||
| Natural variant | 281 | 1 | S → L. Corresponds to variant rs5977625 [ dbSNP | Ensembl ]. | VAR_028959 | |||||
| Natural variant | 296 | 1 | G → R in NYS1. Ref.9 | VAR_062660 | |||||
| Natural variant | 301 | 1 | Y → C in NYS1. Ref.6 | VAR_028960 | |||||
| Natural variant | 340 | 1 | S → L in NYS1. Ref.6 | VAR_028961 | |||||
| Natural variant | 468 | 1 | R → H. Corresponds to variant rs6637934 [ dbSNP | Ensembl ]. | VAR_028962 | |||||
Sequences
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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. 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. 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. 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. |
| IPI | IPI00375566. IPI00946784. |
| RefSeq | NP_919253.1. NM_194277.2. |
| UniGene | Hs.170776. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1GG3 based on UniProtKB P11171. |
| ProteinModelPortal | Q6ZUT3. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000298542. |
PTM databases | |
| PhosphoSite | Q6ZUT3. |
Polymorphism databases | |
| DMDM | 74749680. |
Proteomic databases | |
| PaxDb | Q6ZUT3. |
| PRIDE | Q6ZUT3. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000298542; ENSP00000298542; ENSG00000165694. ENST00000370879; ENSP00000359916; ENSG00000165694. ENST00000464296; ENSP00000417996; ENSG00000165694. |
| GeneID | 90167. |
| KEGG | hsa:90167. |
| UCSC | uc004ewn.3. human. uc011muy.2. human. |
Organism-specific databases | |
| CTD | 90167. |
| GeneCards | GC0XM131211. |
| HGNC | HGNC:8079. FRMD7. |
| HPA | HPA000886. |
| MIM | 300628. gene. 310700. phenotype. |
| neXtProt | NX_Q6ZUT3. |
| Orphanet | 651. Congenital idiopathic nystagmus. |
| PharmGKB | PA162388934. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG282099. |
| HOGENOM | HOG000231290. |
| HOVERGEN | HBG080212. |
| InParanoid | Q6ZUT3. |
| OMA | FPFGSEF. |
| PhylomeDB | Q6ZUT3. |
Gene expression databases | |
| Bgee | Q6ZUT3. |
| CleanEx | HS_FRMD7. |
| Genevestigator | Q6ZUT3. |
| GermOnline | ENSG00000165694. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.20.80.10. 1 hit. 2.30.29.30. 1 hit. |
| InterPro | 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. [Graphical view] |
| Pfam | PF08736. FA. 1 hit. PF09380. FERM_C. 1 hit. PF00373. FERM_M. 1 hit. PF09379. FERM_N. 1 hit. [Graphical view] |
| PRINTS | PR00935. BAND41. |
| SMART | SM00295. B41. 1 hit. [Graphical view] |
| SUPFAM | SSF47031. FERM_3-hlx. 1 hit. |
| PROSITE | PS00660. FERM_1. 1 hit. PS00661. FERM_2. False negative. PS50057. FERM_3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 90167. |
| NextBio | 76567. |
| SOURCE | Search... |
Entry information
| Entry name | FRMD7_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6ZUT3 Secondary accession number(s): C0LLJ3, Q5JX99 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
