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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

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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:8079. FRMD7.

Subcellular locationi

  • 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).By similarity

GO - Cellular componenti

  • cytoskeleton Source: InterPro
  • extracellular space Source: UniProtKB
  • growth cone Source: UniProtKB
  • neuronal cell body Source: UniProtKB
  • 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06265014Missing in NYS1. 1 Publication1
Natural variantiVAR_07210216F → S in NYS1. 1 Publication1
Natural variantiVAR_02895124G → E in NYS1. 1 Publication1
Natural variantiVAR_02895224G → R in NYS1. 3 PublicationsCorresponds to variant rs137852210dbSNPEnsembl.1
Natural variantiVAR_06265124G → W in NYS1. 1 Publication1
Natural variantiVAR_028953142L → R in NYS1. 2 PublicationsCorresponds to variant rs137852211dbSNPEnsembl.1
Natural variantiVAR_062652146R → W in NYS1. 1 PublicationCorresponds to variant rs780995406dbSNPEnsembl.1
Natural variantiVAR_072103208H → R in NYS1. 1 Publication1
Natural variantiVAR_072104212L → P in NYS1; decreased RAC1 activity. 1 Publication1
Natural variantiVAR_028954221N → D in NYS1. 1 Publication1
Natural variantiVAR_062653225W → G in NYS1. 1 Publication1
Natural variantiVAR_028955226A → T in NYS1. 2 Publications1
Natural variantiVAR_062654229R → C in NYS1. 1 Publication1
Natural variantiVAR_062655229R → G in NYS1. 1 PublicationCorresponds to variant rs137852212dbSNPEnsembl.1
Natural variantiVAR_028956231L → V in NYS1. 2 PublicationsCorresponds to variant rs387906720dbSNPEnsembl.1
Natural variantiVAR_062656261R → G in NYS1. 1 Publication1
Natural variantiVAR_062657261R → Q in NYS1. 1 Publication1
Natural variantiVAR_028957266A → P in NYS1. 2 Publications1
Natural variantiVAR_062658271C → F in NYS1. 2 Publications1
Natural variantiVAR_072105271C → S in NYS1. 1 Publication1
Natural variantiVAR_028958271C → Y in NYS1. 2 PublicationsCorresponds to variant rs387906721dbSNPEnsembl.1
Natural variantiVAR_062659275H → P in NYS1. 1 Publication1
Natural variantiVAR_062660296G → R in NYS1. 1 Publication1
Natural variantiVAR_028960301Y → C in NYS1. 1 Publication1
Natural variantiVAR_072106306Q → R in NYS1. 1 Publication1
Natural variantiVAR_028961340S → L in NYS1. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi90167.
MalaCardsiFRMD7.
MIMi310700. phenotype.
OpenTargetsiENSG00000165694.
Orphaneti651. Idiopathic infantile nystagmus.
PharmGKBiPA162388934.

Polymorphism and mutation databases

BioMutaiFRMD7.
DMDMi74749680.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002595321 – 714FERM domain-containing protein 7Add BLAST714

Proteomic databases

MaxQBiQ6ZUT3.
PaxDbiQ6ZUT3.
PeptideAtlasiQ6ZUT3.
PRIDEiQ6ZUT3.

PTM databases

iPTMnetiQ6ZUT3.
PhosphoSitePlusiQ6ZUT3.

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

BgeeiENSG00000165694.
CleanExiHS_FRMD7.
ExpressionAtlasiQ6ZUT3. baseline and differential.
GenevisibleiQ6ZUT3. HS.

Organism-specific databases

HPAiHPA000886.

Interactioni

Protein-protein interaction databases

IntActiQ6ZUT3. 1 interactor.
STRINGi9606.ENSP00000298542.

Structurei

3D structure databases

ProteinModelPortaliQ6ZUT3.
SMRiQ6ZUT3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini2 – 282FERMPROSITE-ProRule annotationAdd BLAST281

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili537 – 558Sequence analysisAdd BLAST22

Sequence similaritiesi

Contains 1 FERM domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3531. Eukaryota.
ENOG410XP7Q. LUCA.
GeneTreeiENSGT00860000133686.
HOGENOMiHOG000231290.
HOVERGENiHBG080212.
InParanoidiQ6ZUT3.
OMAiPQVFFYV.
OrthoDBiEOG091G015W.
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_dom-like.
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.
SM01195. FA. 1 hit.
SM01196. FERM_C. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06265014Missing in NYS1. 1 Publication1
Natural variantiVAR_07210216F → S in NYS1. 1 Publication1
Natural variantiVAR_02895124G → E in NYS1. 1 Publication1
Natural variantiVAR_02895224G → R in NYS1. 3 PublicationsCorresponds to variant rs137852210dbSNPEnsembl.1
Natural variantiVAR_06265124G → W in NYS1. 1 Publication1
Natural variantiVAR_028953142L → R in NYS1. 2 PublicationsCorresponds to variant rs137852211dbSNPEnsembl.1
Natural variantiVAR_062652146R → W in NYS1. 1 PublicationCorresponds to variant rs780995406dbSNPEnsembl.1
Natural variantiVAR_072103208H → R in NYS1. 1 Publication1
Natural variantiVAR_072104212L → P in NYS1; decreased RAC1 activity. 1 Publication1
Natural variantiVAR_028954221N → D in NYS1. 1 Publication1
Natural variantiVAR_062653225W → G in NYS1. 1 Publication1
Natural variantiVAR_028955226A → T in NYS1. 2 Publications1
Natural variantiVAR_062654229R → C in NYS1. 1 Publication1
Natural variantiVAR_062655229R → G in NYS1. 1 PublicationCorresponds to variant rs137852212dbSNPEnsembl.1
Natural variantiVAR_028956231L → V in NYS1. 2 PublicationsCorresponds to variant rs387906720dbSNPEnsembl.1
Natural variantiVAR_062656261R → G in NYS1. 1 Publication1
Natural variantiVAR_062657261R → Q in NYS1. 1 Publication1
Natural variantiVAR_028957266A → P in NYS1. 2 Publications1
Natural variantiVAR_062658271C → F in NYS1. 2 Publications1
Natural variantiVAR_072105271C → S in NYS1. 1 Publication1
Natural variantiVAR_028958271C → Y in NYS1. 2 PublicationsCorresponds to variant rs387906721dbSNPEnsembl.1
Natural variantiVAR_062659275H → P in NYS1. 1 Publication1
Natural variantiVAR_028959281S → L.Corresponds to variant rs5977625dbSNPEnsembl.1
Natural variantiVAR_062660296G → R in NYS1. 1 Publication1
Natural variantiVAR_028960301Y → C in NYS1. 1 Publication1
Natural variantiVAR_072106306Q → R in NYS1. 1 Publication1
Natural variantiVAR_028961340S → L in NYS1. 2 Publications1
Natural variantiVAR_028962468R → H.Corresponds to variant rs6637934dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03872269 – 84NPKEI…KFFPV → M in isoform 2. 1 PublicationAdd BLAST16

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]
CCDS78504.1. [Q6ZUT3-2]
RefSeqiNP_001293122.1. NM_001306193.1. [Q6ZUT3-2]
NP_919253.1. NM_194277.2. [Q6ZUT3-1]
UniGeneiHs.170776.

Genome annotation databases

EnsembliENST00000298542; ENSP00000298542; ENSG00000165694. [Q6ZUT3-1]
ENST00000464296; ENSP00000417996; ENSG00000165694. [Q6ZUT3-2]
GeneIDi90167.
KEGGihsa:90167.
UCSCiuc004ewn.4. human. [Q6ZUT3-1]

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]
CCDS78504.1. [Q6ZUT3-2]
RefSeqiNP_001293122.1. NM_001306193.1. [Q6ZUT3-2]
NP_919253.1. NM_194277.2. [Q6ZUT3-1]
UniGeneiHs.170776.

3D structure databases

ProteinModelPortaliQ6ZUT3.
SMRiQ6ZUT3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ6ZUT3. 1 interactor.
STRINGi9606.ENSP00000298542.

PTM databases

iPTMnetiQ6ZUT3.
PhosphoSitePlusiQ6ZUT3.

Polymorphism and mutation databases

BioMutaiFRMD7.
DMDMi74749680.

Proteomic databases

MaxQBiQ6ZUT3.
PaxDbiQ6ZUT3.
PeptideAtlasiQ6ZUT3.
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.4. human. [Q6ZUT3-1]

Organism-specific databases

CTDi90167.
DisGeNETi90167.
GeneCardsiFRMD7.
GeneReviewsiFRMD7.
HGNCiHGNC:8079. FRMD7.
HPAiHPA000886.
MalaCardsiFRMD7.
MIMi300628. gene.
310700. phenotype.
neXtProtiNX_Q6ZUT3.
OpenTargetsiENSG00000165694.
Orphaneti651. Idiopathic infantile nystagmus.
PharmGKBiPA162388934.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3531. Eukaryota.
ENOG410XP7Q. LUCA.
GeneTreeiENSGT00860000133686.
HOGENOMiHOG000231290.
HOVERGENiHBG080212.
InParanoidiQ6ZUT3.
OMAiPQVFFYV.
OrthoDBiEOG091G015W.
PhylomeDBiQ6ZUT3.
TreeFamiTF317513.

Miscellaneous databases

GeneWikiiFRMD7.
GenomeRNAii90167.
PROiQ6ZUT3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165694.
CleanExiHS_FRMD7.
ExpressionAtlasiQ6ZUT3. baseline and differential.
GenevisibleiQ6ZUT3. HS.

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_dom-like.
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.
SM01195. FA. 1 hit.
SM01196. FERM_C. 1 hit.
[Graphical view]
SUPFAMiSSF47031. SSF47031. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF54236. SSF54236. 1 hit.
PROSITEiPS00660. FERM_1. 1 hit.
PS50057. FERM_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 116 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

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 one 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.