Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein fantom

Gene

RPGRIP1L

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

Functioni

Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity).By similarity1 Publication

GO - Molecular functioni

  • thromboxane A2 receptor binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.
SIGNORiQ68CZ1.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein fantom
Alternative name(s):
Nephrocystin-8
RPGR-interacting protein 1-like protein
Short name:
RPGRIP1-like protein
Gene namesi
Name:RPGRIP1L
Synonyms:FTM, KIAA1005, NPHP8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:29168. RPGRIP1L.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: MGI
  • bicellular tight junction Source: UniProtKB-SubCell
  • cell-cell junction Source: UniProtKB
  • centrosome Source: UniProtKB
  • ciliary basal body Source: MGI
  • ciliary transition zone Source: WormBase
  • cilium Source: MGI
  • cytoplasm Source: MGI
  • cytosol Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Tight junction

Pathology & Biotechi

Involvement in diseasei

Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including RPGRIP1L, influence the clinical outcome.

Joubert syndrome 7 (JBTS7)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
See also OMIM:611560
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076824393E → K in JBTS7. 1 Publication1
Natural variantiVAR_069234550Q → R in JBTS7. 1 PublicationCorresponds to variant rs772900011dbSNPEnsembl.1
Natural variantiVAR_039393615T → P in JBTS7; affects interaction with NPHP4. 3 PublicationsCorresponds to variant rs121918198dbSNPEnsembl.1
Natural variantiVAR_076825633C → R in JBTS7. 1 Publication1
Natural variantiVAR_039394677T → I in JBTS7; also in a patient with Leber congenital amaurosis; affects interaction with NPHP4. 2 PublicationsCorresponds to variant rs532768944dbSNPEnsembl.1
Natural variantiVAR_039395695A → P in JBTS7; seems not to affect interaction with NPHP4. 1 PublicationCorresponds to variant rs121918200dbSNPEnsembl.1
Meckel syndrome 5 (MKS5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
See also OMIM:611561
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0664821236R → C in MKS5. 1 PublicationCorresponds to variant rs151332923dbSNPEnsembl.1
COACH syndrome (COACHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable.
See also OMIM:216360
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063805659S → P in COACHS. 1 PublicationCorresponds to variant rs267607020dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

DisGeNETi23322.
MalaCardsiRPGRIP1L.
MIMi216360. phenotype.
611560. phenotype.
611561. phenotype.
OpenTargetsiENSG00000103494.
Orphaneti1454. Joubert syndrome with hepatic defect.
220497. Joubert syndrome with renal defect.
564. Meckel syndrome.
PharmGKBiPA162401983.

Polymorphism and mutation databases

BioMutaiRPGRIP1L.
DMDMi296434514.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002912671 – 1315Protein fantomAdd BLAST1315

Proteomic databases

EPDiQ68CZ1.
MaxQBiQ68CZ1.
PaxDbiQ68CZ1.
PeptideAtlasiQ68CZ1.
PRIDEiQ68CZ1.

PTM databases

iPTMnetiQ68CZ1.
PhosphoSitePlusiQ68CZ1.

Expressioni

Tissue specificityi

Ubiquitously expressed with relatively high level of expression in hypothalamus and islet. During early development, expressed in multiple organs including brain, eye, forelimb and kidney.4 Publications

Gene expression databases

BgeeiENSG00000103494.
CleanExiHS_RPGRIP1L.
ExpressionAtlasiQ68CZ1. baseline and differential.
GenevisibleiQ68CZ1. HS.

Organism-specific databases

HPAiHPA039405.
HPA040530.

Interactioni

Subunit structurei

Interacts with NPHP4 and NPHP1; NPHP1, NPHP4 and RPGRIP1L are proposed to form a functional NPHP1-4-8 module localized to cell-cell contacts and the ciliary transition zone; NPHP4 mediates the interaction between NPHP1 and RPGRIP1L. Interacts with IQCB1; the interaction likely requires additional interactors (By similarity). Interacts with TBXA2R (via C-terminus). Interacts with RPGR. Interacts with NEK4. Interacts with NPHP4, INVS and DVL2; the complex is proposed to be involved in DVL2 stabilization.By similarity4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NPHP4O751618EBI-9356215,EBI-4281852

GO - Molecular functioni

  • thromboxane A2 receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi116911. 152 interactors.
IntActiQ68CZ1. 153 interactors.
STRINGi9606.ENSP00000369257.

Structurei

Secondary structure

11315
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi605 – 614Combined sources10
Helixi618 – 623Combined sources6
Beta strandi630 – 635Combined sources6
Beta strandi648 – 652Combined sources5
Beta strandi657 – 663Combined sources7
Helixi667 – 675Combined sources9
Beta strandi678 – 685Combined sources8
Beta strandi690 – 698Combined sources9
Helixi702 – 705Combined sources4
Beta strandi710 – 716Combined sources7
Beta strandi718 – 721Combined sources4
Beta strandi726 – 737Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YRBNMR-A595-737[»]
ProteinModelPortaliQ68CZ1.
SMRiQ68CZ1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ68CZ1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini615 – 712C2 1PROSITE-ProRule annotationAdd BLAST98
Domaini777 – 881C2 2PROSITE-ProRule annotationAdd BLAST105

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili64 – 144Sequence analysisAdd BLAST81
Coiled coili197 – 256Sequence analysisAdd BLAST60
Coiled coili326 – 555Sequence analysisAdd BLAST230

Sequence similaritiesi

Belongs to the RPGRIP1 family.Curated
Contains 2 C2 domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiENOG410IGZN. Eukaryota.
ENOG410YNUX. LUCA.
GeneTreeiENSGT00520000055620.
HOGENOMiHOG000168391.
HOVERGENiHBG106574.
InParanoidiQ68CZ1.
KOiK16550.
OMAiIRDNVEM.
OrthoDBiEOG091G03K7.
PhylomeDBiQ68CZ1.
TreeFamiTF328883.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR021656. C2-C2_1.
IPR000008. C2_dom.
IPR031139. RPGRIP1_fam.
IPR031136. RPGRIP1L.
[Graphical view]
PANTHERiPTHR14240. PTHR14240. 2 hits.
PTHR14240:SF4. PTHR14240:SF4. 2 hits.
PfamiPF00168. C2. 1 hit.
PF11618. C2-C2_1. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 2 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.
PROSITEiPS50004. C2. 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: Q68CZ1-1) [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
MSGPTDETAG DLPVKDTGLN LFGMGGLQET STTRTMKSRQ AVSRVSREEL
60 70 80 90 100
EDRFLRLHDE NILLKQHARK QEDKIKRMAT KLIRLVNDKK RYERVGGGPK
110 120 130 140 150
RLGRDVEMEE MIEQLQEKVH ELEKQNETLK NRLISAKQQL QTQGYRQTPY
160 170 180 190 200
NNVQSRINTG RRKANENAGL QECPRKGIKF QDADVAETPH PMFTKYGNSL
210 220 230 240 250
LEEARGEIRN LENVIQSQRG QIEELEHLAE ILKTQLRRKE NEIELSLLQL
260 270 280 290 300
REQQATDQRS NIRDNVEMIK LHKQLVEKSN ALSAMEGKFI QLQEKQRTLR
310 320 330 340 350
ISHDALMANG DELNMQLKEQ RLKCCSLEKQ LHSMKFSERR IEELQDRIND
360 370 380 390 400
LEKERELLKE NYDKLYDSAF SAAHEEQWKL KEQQLKVQIA QLETALKSDL
410 420 430 440 450
TDKTEILDRL KTERDQNEKL VQENRELQLQ YLEQKQQLDE LKKRIKLYNQ
460 470 480 490 500
ENDINADELS EALLLIKAQK EQKNGDLSFL VKVDSEINKD LERSMRELQA
510 520 530 540 550
THAETVQELE KTRNMLIMQH KINKDYQMEV EAVTRKMENL QQDYELKVEQ
560 570 580 590 600
YVHLLDIRAA RIHKLEAQLK DIAYGTKQYK FKPEIMPDDS VDEFDETIHL
610 620 630 640 650
ERGENLFEIH INKVTFSSEV LQASGDKEPV TFCTYAFYDF ELQTTPVVRG
660 670 680 690 700
LHPEYNFTSQ YLVHVNDLFL QYIQKNTITL EVHQAYSTEY ETIAACQLKF
710 720 730 740 750
HEILEKSGRI FCTASLIGTK GDIPNFGTVE YWFRLRVPMD QAIRLYRERA
760 770 780 790 800
KALGYITSNF KGPEHMQSLS QQAPKTAQLS STDSTDGNLN ELHITIRCCN
810 820 830 840 850
HLQSRASHLQ PHPYVVYKFF DFADHDTAII PSSNDPQFDD HMYFPVPMNM
860 870 880 890 900
DLDRYLKSES LSFYVFDDSD TQENIYIGKV NVPLISLAHD RCISGIFELT
910 920 930 940 950
DHQKHPAGTI HVILKWKFAY LPPSGSITTE DLGNFIRSEE PEVVQRLPPA
960 970 980 990 1000
SSVSTLVLAP RPKPRQRLTP VDKKVSFVDI MPHQSDETSP PPEDRKEISP
1010 1020 1030 1040 1050
EVEHIPEIEI NMLTVPHVPK VSQEGSVDEV KENTEKMQQG KDDVSLLSEG
1060 1070 1080 1090 1100
QLAEQSLASS EDETEITEDL EPEVEEDMSA SDSDDCIIPG PISKNIKQSL
1110 1120 1130 1140 1150
ALSPGLGCSS AISAHCNFRL PGSSDFPASA SQVDGITGAC HHTQPSEKIR
1160 1170 1180 1190 1200
IEIIALSLND SQVTMDDTIQ RLFVECRFYS LPAEETPVSL PKPKSGQWVY
1210 1220 1230 1240 1250
YNYSNVIYVD KENNKAKRDI LKAILQKQEM PNRSLRFTVV SDPPEDEQDL
1260 1270 1280 1290 1300
ECEDIGVAHV DLADMFQEGR DLIEQNIDVF DARADGEGIG KLRVTVEALH
1310
ALQSVYKQYR DDLEA
Length:1,315
Mass (Da):151,201
Last modified:May 18, 2010 - v2
Checksum:i694B83C6A109E50A
GO
Isoform 2 (identifier: Q68CZ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     987-1020: Missing.
     1099-1144: Missing.

Note: No experimental confirmation available.
Show »
Length:1,235
Mass (Da):142,792
Checksum:iF487798A39A0F038
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti300R → K in BAA76849 (PubMed:10231032).Curated1
Sequence conflicti575G → D in CAH18439 (PubMed:17974005).Curated1
Sequence conflicti595D → G in CAH18439 (PubMed:17974005).Curated1
Sequence conflicti992P → L in CAH18439 (PubMed:17974005).Curated1
Sequence conflicti1143T → S in CAH18439 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066476199S → G Found in a patient with Leber congenital amaurosis. 1 Publication1
Natural variantiVAR_066477229A → T Polymorphism; associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes; found in patients with Leber congenital amaurosis, Senior-Loken syndrome, Joubert syndrome and Bardet-Biedl syndrome; abrogates interaction with RPGR. 1 PublicationCorresponds to variant rs61747071dbSNPEnsembl.1
Natural variantiVAR_076824393E → K in JBTS7. 1 Publication1
Natural variantiVAR_066478447L → S.1 PublicationCorresponds to variant rs138155747dbSNPEnsembl.1
Natural variantiVAR_066479546L → F Found in a patient with Leber congenital amaurosis. 1 PublicationCorresponds to variant rs147331527dbSNPEnsembl.1
Natural variantiVAR_069234550Q → R in JBTS7. 1 PublicationCorresponds to variant rs772900011dbSNPEnsembl.1
Natural variantiVAR_039393615T → P in JBTS7; affects interaction with NPHP4. 3 PublicationsCorresponds to variant rs121918198dbSNPEnsembl.1
Natural variantiVAR_076825633C → R in JBTS7. 1 Publication1
Natural variantiVAR_066480647V → I.1 PublicationCorresponds to variant rs145572901dbSNPEnsembl.1
Natural variantiVAR_063805659S → P in COACHS. 1 PublicationCorresponds to variant rs267607020dbSNPEnsembl.1
Natural variantiVAR_039394677T → I in JBTS7; also in a patient with Leber congenital amaurosis; affects interaction with NPHP4. 2 PublicationsCorresponds to variant rs532768944dbSNPEnsembl.1
Natural variantiVAR_039395695A → P in JBTS7; seems not to affect interaction with NPHP4. 1 PublicationCorresponds to variant rs121918200dbSNPEnsembl.1
Natural variantiVAR_039396744R → Q.Corresponds to variant rs2302677dbSNPEnsembl.1
Natural variantiVAR_066481937R → L in a patient with Leber congenital amaurosis. 1 PublicationCorresponds to variant rs776795273dbSNPEnsembl.1
Natural variantiVAR_0393971025G → S.1 PublicationCorresponds to variant rs2111119dbSNPEnsembl.1
Natural variantiVAR_0655561183A → G in a patient with Meckel-Gruber like syndrome also carrying L-220 and V-280 in TTC21B; also found in patients with Leber congenital amaurosis and a patient with Bardet-Biedl syndrome. 2 PublicationsCorresponds to variant rs139974543dbSNPEnsembl.1
Natural variantiVAR_0664821236R → C in MKS5. 1 PublicationCorresponds to variant rs151332923dbSNPEnsembl.1
Natural variantiVAR_0393981264D → N.1 PublicationCorresponds to variant rs3213758dbSNPEnsembl.1
Natural variantiVAR_0664831264D → Y in patients with Leber congenital amaurosis. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_026161987 – 1020Missing in isoform 2. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_0261621099 – 1144Missing in isoform 2. 1 PublicationAdd BLAST46

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR749645 mRNA. Translation: CAH18439.1.
AC007497 Genomic DNA. No translation available.
AC007909 Genomic DNA. No translation available.
AC084795 Genomic DNA. No translation available.
BC017977 mRNA. Translation: AAH17977.1. Different termination.
AB023222 mRNA. Translation: BAA76849.1.
CCDSiCCDS32447.1. [Q68CZ1-1]
CCDS45486.1. [Q68CZ1-2]
RefSeqiNP_001121369.1. NM_001127897.3. [Q68CZ1-2]
NP_056087.2. NM_015272.4. [Q68CZ1-1]
UniGeneiHs.298382.
Hs.709676.
Hs.710269.

Genome annotation databases

EnsembliENST00000262135; ENSP00000262135; ENSG00000103494. [Q68CZ1-2]
ENST00000379925; ENSP00000369257; ENSG00000103494. [Q68CZ1-1]
GeneIDi23322.
KEGGihsa:23322.
UCSCiuc002eho.5. human. [Q68CZ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

RPGRIP1-like (RPGRIP1L)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CR749645 mRNA. Translation: CAH18439.1.
AC007497 Genomic DNA. No translation available.
AC007909 Genomic DNA. No translation available.
AC084795 Genomic DNA. No translation available.
BC017977 mRNA. Translation: AAH17977.1. Different termination.
AB023222 mRNA. Translation: BAA76849.1.
CCDSiCCDS32447.1. [Q68CZ1-1]
CCDS45486.1. [Q68CZ1-2]
RefSeqiNP_001121369.1. NM_001127897.3. [Q68CZ1-2]
NP_056087.2. NM_015272.4. [Q68CZ1-1]
UniGeneiHs.298382.
Hs.709676.
Hs.710269.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YRBNMR-A595-737[»]
ProteinModelPortaliQ68CZ1.
SMRiQ68CZ1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116911. 152 interactors.
IntActiQ68CZ1. 153 interactors.
STRINGi9606.ENSP00000369257.

PTM databases

iPTMnetiQ68CZ1.
PhosphoSitePlusiQ68CZ1.

Polymorphism and mutation databases

BioMutaiRPGRIP1L.
DMDMi296434514.

Proteomic databases

EPDiQ68CZ1.
MaxQBiQ68CZ1.
PaxDbiQ68CZ1.
PeptideAtlasiQ68CZ1.
PRIDEiQ68CZ1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262135; ENSP00000262135; ENSG00000103494. [Q68CZ1-2]
ENST00000379925; ENSP00000369257; ENSG00000103494. [Q68CZ1-1]
GeneIDi23322.
KEGGihsa:23322.
UCSCiuc002eho.5. human. [Q68CZ1-1]

Organism-specific databases

CTDi23322.
DisGeNETi23322.
GeneCardsiRPGRIP1L.
GeneReviewsiRPGRIP1L.
HGNCiHGNC:29168. RPGRIP1L.
HPAiHPA039405.
HPA040530.
MalaCardsiRPGRIP1L.
MIMi216360. phenotype.
610937. gene.
611560. phenotype.
611561. phenotype.
neXtProtiNX_Q68CZ1.
OpenTargetsiENSG00000103494.
Orphaneti1454. Joubert syndrome with hepatic defect.
220497. Joubert syndrome with renal defect.
564. Meckel syndrome.
PharmGKBiPA162401983.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGZN. Eukaryota.
ENOG410YNUX. LUCA.
GeneTreeiENSGT00520000055620.
HOGENOMiHOG000168391.
HOVERGENiHBG106574.
InParanoidiQ68CZ1.
KOiK16550.
OMAiIRDNVEM.
OrthoDBiEOG091G03K7.
PhylomeDBiQ68CZ1.
TreeFamiTF328883.

Enzyme and pathway databases

ReactomeiR-HSA-5610787. Hedgehog 'off' state.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.
SIGNORiQ68CZ1.

Miscellaneous databases

ChiTaRSiRPGRIP1L. human.
EvolutionaryTraceiQ68CZ1.
GenomeRNAii23322.
PROiQ68CZ1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103494.
CleanExiHS_RPGRIP1L.
ExpressionAtlasiQ68CZ1. baseline and differential.
GenevisibleiQ68CZ1. HS.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR021656. C2-C2_1.
IPR000008. C2_dom.
IPR031139. RPGRIP1_fam.
IPR031136. RPGRIP1L.
[Graphical view]
PANTHERiPTHR14240. PTHR14240. 2 hits.
PTHR14240:SF4. PTHR14240:SF4. 2 hits.
PfamiPF00168. C2. 1 hit.
PF11618. C2-C2_1. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 2 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.
PROSITEiPS50004. C2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFTM_HUMAN
AccessioniPrimary (citable) accession number: Q68CZ1
Secondary accession number(s): A0PJ88, Q9Y2K8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 12, 2007
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 116 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.