Protein detail

FTM

Protein fantom (Nephrocystin-8) (RPGR-interacting protein 1-like protein) (RPGRIP1-like protein)

Protein symbol FTM	UniProt ID Q68CZ1	EVMP score 0.38
Frequency 1	Transmembrane count	Protein classification Disease related genesHuman disease related genesPredicted intracellular proteins

EVMP score: annotation confidence score.

Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40

Basic Information

Protein Names

Protein fantom (Nephrocystin-8) (RPGR-interacting protein 1-like protein) (RPGRIP1-like protein)

Protein Class

Disease related genesHuman disease related genesPredicted intracellular proteins

Protein Function

Disease related genes
Human disease related genes:Congenital malformations:Congenital malformations of the urinary system
Human disease related genes:Congenital malformations:Congenital malformations of the nervous system
Predicted intracellular proteins

Ensembl

ENSG00000103494

Entrez Gene Symbol

RPGRIP1L

Gene Synonym

CORS3FTMJBTS7KIAA1005MKS5NPHP8PPP1R134

Gene Description

RPGRIP1 like

Chromosome

Position

53598153-53703938

Frequency

EVMP Score

0.38

Fluorescence & Localization

Tissue Specificthyroid glandCell SpecificEndometrial glandular cells

Function & Pathway

Protein Function

Disease related genes
Human disease related genes:Congenital malformations:Congenital malformations of the urinary system
Human disease related genes:Congenital malformations:Congenital malformations of the nervous system
Predicted intracellular proteins

Cellular Component

Molecular Function

Biological Process

Reactome

Canonical Pathways

M11736 Sa mmp cytokine connection

Mediation Categories

Fusion and delivery mediationReceptor-signaling mediation

Relations & Evidence

Enzyme-Mediated Modification

0 records.

Ligand-Receptor Signaling

7 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
intracellular	intracellular	ComPPI	No	No	No	No	No
intracellular	intracellular	GO_Intercell	No	No	No	No	No
intracellular	intracellular	UniProt_location	No	No	No	No	No
intracellular	intracellular	OmniPath	No	No	No	No	No
tight_junction	tight_junction	GO_Intercell	Yes	Yes	No	No	No
tight_junction	tight_junction	Ramilowski_location	Yes	Yes	No	No	No
tight_junction	tight_junction	OmniPath	Yes	Yes	No	No	No

Regulatory Interaction Network

2 records.

Source Protein Symbol	Source UniProt ID	Target Protein Symbol	Target UniProt ID	Is Directed	Is Stimulation	Is Inhibition	Database	References
FTM	Q68CZ1		COMPLEX:P19838_Q04206	Yes	No	Yes	SIGNOR	SIGNOR:20080798
FTM	Q68CZ1	TF65	Q04206	Yes	No	Yes	SIGNOR	SIGNOR:20080798

Protein Complex Composition

5 records.

Component Name	Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs	References
DVL2-INVS-NPHP4-RPGRIP1L complex	DVL2 INVS NPHP4 RPGRIP1L	O14641 O75161 Q68CZ1 Q9Y283	0:0:0:0	CORUM	CORUM:6681	22927466
NPHP transition zone complex	NPHP1 NPHP4 RPGRIP1L	O15259 O75161 Q68CZ1	1:1:1	ComplexPortal	intact:EBI-9026097	17558407 28401750 14755292
	GKAP1 NEK4 NPHP1 NPHP4 PDE6D RPGR RPGRIP1 RPGRIP1L	O15259 O43924 O75161 P51957 Q5VSY0 Q68CZ1 Q92834 Q96KN7	0:0:0:0:0:0:0:0	hu.MAP2
	GKAP1 NEK4 NPHP1 NPHP4 RPGR RPGRIP1L	O15259 O75161 P51957 Q5VSY0 Q68CZ1 Q92834	0:0:0:0:0:0	hu.MAP2
	NPHP1 NPHP4 RPGR RPGRIP1L	O15259 O75161 Q68CZ1 Q92834	0:0:0:0	hu.MAP2

Isolation & Detection Technology

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential UltracentrifugationSize Exclusion Chromatography	Mass spectrometryWestern blottingMass spectrometry\|Western blotting	2	30022183 37503786

Sequence, Structure & Domains

Sequences

Length

1,315

Mass

151,201

Sequence

MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSLLEEARGEIRNLENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLRISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKENYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKLVQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENLQQDYELKVEQYVHLLDIRAARIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHLERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTYAFYDFELQTTPVVRGLHPEYNFTSQYLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKFHEILEKSGRIFCTASLIGTKGDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLSQQAPKTAQLSSTDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDDHMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELTDHQKHPAGTIHVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAPRPKPRQRLTPVDKKVSFVDIMPHQSDETSPPPEDRKEISPEVEHIPEIEINMLTVPHVPKVSQEGSVDEVKENTEKMQQGKDDVSLLSEGQLAEQSLASSEDETEITEDLEPEVEEDMSASDSDDCIIPGPISKNIKQSLALSPGLGCSSAISAHCNFRLPGSSDFPASASQVDGITGACHHTQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYSLPAEETPVSLPKPKSGQWVYYNYSNVIYVDKENNKAKRDILKAILQKQEMPNRSLRFTVVSDPPEDEQDLECEDIGVAHVDLADMFQEGRDLIEQNIDVFDARADGEGIGKLRVTVEALHALQSVYKQYRDDLEA

Alternative Products

Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q68CZ1-1; Sequence=Displayed; Name=2; IsoId=Q68CZ1-2; Sequence=VSP_026161, VSP_026162

Alternative Sequence

987..1020; Missing (in isoform 2); 1099..1144; Missing (in isoform 2)

3D Structural Models

Helix

618..623; 667..675; 702..705

Beta Strand

605..614; 630..635; 648..652; 657..663; 678..685; 690..698; 710..716; 718..721; 726..737

3D Structure

NMR spectroscopy (1)

Domain & Motif Annotations

Compositional Bias

1028..1044; Basic and acidic residues; 1060..1083; Acidic residues

Coiled Coil

64..144; 197..256; 326..555

Domain (FT)

577..713; C2 1; 773..897; C2 2

Region

1021..1083; Disordered

Protein Families

RPGRIP1 family

Sequence Similarities

Belongs to the RPGRIP1 family.

Clinical Relevance

Disease Involvement

CiliopathyDisease variantJoubert syndromeMeckel syndrome

Antibody

HPA039405 HPA040530

Interaction Protein

ENSG00000039560ENSG00000114346ENSG00000114904ENSG00000131697ENSG00000132361ENSG00000133030ENSG00000144061ENSG00000156313ENSG00000165113

Interaction Count

Interaction Dataset

intact_biogrid