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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). 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 in kidney cells together with NPHP1 and NPHP4 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity).By similarity

GO - Molecular functioni

  • thromboxane A2 receptor binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_267965. Anchoring of the basal body to the plasma membrane.
REACT_268323. Hedgehog 'off' state.

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
ProteomesiUP000005640 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: Ensembl
  • 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)3 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti550 – 5501Q → R in JBTS7. 1 Publication
VAR_069234
Natural varianti615 – 6151T → P in JBTS7; affects interaction with NPHP4. 2 Publications
Corresponds to variant rs121918198 [ dbSNP | Ensembl ].
VAR_039393
Natural varianti677 – 6771T → I in JBTS7; also in a patient with Leber congenital amaurosis; affects interaction with NPHP4. 2 Publications
VAR_039394
Natural varianti695 – 6951A → P in JBTS7; seems not to affect interaction with NPHP4. 1 Publication
Corresponds to variant rs121918200 [ dbSNP | Ensembl ].
VAR_039395
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1236 – 12361R → C in MKS5. 1 Publication
Corresponds to variant rs151332923 [ dbSNP | Ensembl ].
VAR_066482
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti659 – 6591S → P in COACHS. 1 Publication
VAR_063805

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

MIMi216360. phenotype.
611560. phenotype.
611561. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13151315Protein fantomPRO_0000291267Add
BLAST

Proteomic databases

MaxQBiQ68CZ1.
PaxDbiQ68CZ1.
PRIDEiQ68CZ1.

PTM databases

PhosphoSiteiQ68CZ1.

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

BgeeiQ68CZ1.
CleanExiHS_RPGRIP1L.
ExpressionAtlasiQ68CZ1. baseline and differential.
GenevisibleiQ68CZ1. HS.

Organism-specific databases

HPAiHPA039405.
HPA040530.

Interactioni

Subunit structurei

Interacts with NPHP4 in a complex containing NPHP1, NPHP4 and RPGRIP1L/NPHP8. Interacts with TBXA2R (via C-terminus). Interacts with IQCB1; the interaction likely requires additional interactors. Interacts with RPGR. Interacts with NEK4.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NPHP4O751617EBI-9356215,EBI-4281852

Protein-protein interaction databases

BioGridi116911. 5 interactions.
IntActiQ68CZ1. 2 interactions.
STRINGi9606.ENSP00000369257.

Structurei

Secondary structure

1
1315
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi605 – 61410Combined sources
Helixi618 – 6236Combined sources
Beta strandi630 – 6356Combined sources
Beta strandi648 – 6525Combined sources
Beta strandi657 – 6637Combined sources
Helixi667 – 6759Combined sources
Beta strandi678 – 6858Combined sources
Beta strandi690 – 6989Combined sources
Helixi702 – 7054Combined sources
Beta strandi710 – 7167Combined sources
Beta strandi718 – 7214Combined sources
Beta strandi726 – 73712Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2YRBNMR-A595-737[»]
ProteinModelPortaliQ68CZ1.
SMRiQ68CZ1. Positions 595-737.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ68CZ1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini615 – 71298C2 1PROSITE-ProRule annotationAdd
BLAST
Domaini777 – 881105C2 2PROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili64 – 14481Sequence AnalysisAdd
BLAST
Coiled coili197 – 25660Sequence AnalysisAdd
BLAST
Coiled coili326 – 555230Sequence AnalysisAdd
BLAST

Sequence similaritiesi

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

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiNOG117461.
GeneTreeiENSGT00520000055620.
HOGENOMiHOG000168391.
HOVERGENiHBG106574.
InParanoidiQ68CZ1.
KOiK16550.
OMAiTHAETVQ.
OrthoDBiEOG77Q4VX.
PhylomeDBiQ68CZ1.
TreeFamiTF328883.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
IPR021656. DUF3250.
IPR031139. RPGRIP1_fam.
IPR031136. RPGRIP1L.
[Graphical view]
PANTHERiPTHR14240. PTHR14240. 1 hit.
PTHR14240:SF4. PTHR14240:SF4. 1 hit.
PfamiPF00168. C2. 1 hit.
PF11618. DUF3250. 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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti300 – 3001R → K in BAA76849 (PubMed:10231032).Curated
Sequence conflicti575 – 5751G → D in CAH18439 (PubMed:17974005).Curated
Sequence conflicti595 – 5951D → G in CAH18439 (PubMed:17974005).Curated
Sequence conflicti992 – 9921P → L in CAH18439 (PubMed:17974005).Curated
Sequence conflicti1143 – 11431T → S in CAH18439 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti199 – 1991S → G Found in a patient with Leber congenital amaurosis. 1 Publication
VAR_066476
Natural varianti229 – 2291A → 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 Publication
Corresponds to variant rs61747071 [ dbSNP | Ensembl ].
VAR_066477
Natural varianti447 – 4471L → S.1 Publication
Corresponds to variant rs138155747 [ dbSNP | Ensembl ].
VAR_066478
Natural varianti546 – 5461L → F Found in a patient with Leber congenital amaurosis. 1 Publication
Corresponds to variant rs147331527 [ dbSNP | Ensembl ].
VAR_066479
Natural varianti550 – 5501Q → R in JBTS7. 1 Publication
VAR_069234
Natural varianti615 – 6151T → P in JBTS7; affects interaction with NPHP4. 2 Publications
Corresponds to variant rs121918198 [ dbSNP | Ensembl ].
VAR_039393
Natural varianti647 – 6471V → I.1 Publication
Corresponds to variant rs145572901 [ dbSNP | Ensembl ].
VAR_066480
Natural varianti659 – 6591S → P in COACHS. 1 Publication
VAR_063805
Natural varianti677 – 6771T → I in JBTS7; also in a patient with Leber congenital amaurosis; affects interaction with NPHP4. 2 Publications
VAR_039394
Natural varianti695 – 6951A → P in JBTS7; seems not to affect interaction with NPHP4. 1 Publication
Corresponds to variant rs121918200 [ dbSNP | Ensembl ].
VAR_039395
Natural varianti744 – 7441R → Q.
Corresponds to variant rs2302677 [ dbSNP | Ensembl ].
VAR_039396
Natural varianti937 – 9371R → L in a patient with Leber congenital amaurosis. 1 Publication
VAR_066481
Natural varianti1025 – 10251G → S.1 Publication
Corresponds to variant rs2111119 [ dbSNP | Ensembl ].
VAR_039397
Natural varianti1183 – 11831A → 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 Publications
Corresponds to variant rs139974543 [ dbSNP | Ensembl ].
VAR_065556
Natural varianti1236 – 12361R → C in MKS5. 1 Publication
Corresponds to variant rs151332923 [ dbSNP | Ensembl ].
VAR_066482
Natural varianti1264 – 12641D → N.1 Publication
Corresponds to variant rs3213758 [ dbSNP | Ensembl ].
VAR_039398
Natural varianti1264 – 12641D → Y in patients with Leber congenital amaurosis. 1 Publication
VAR_066483

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei987 – 102034Missing in isoform 2. 1 PublicationVSP_026161Add
BLAST
Alternative sequencei1099 – 114446Missing in isoform 2. 1 PublicationVSP_026162Add
BLAST

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_001127897.2. [Q68CZ1-2]
NP_056087.2. NM_015272.3. [Q68CZ1-1]
XP_011521270.1. XM_011522968.1. [Q68CZ1-1]
UniGeneiHs.298382.

Genome annotation databases

EnsembliENST00000262135; ENSP00000262135; ENSG00000103494. [Q68CZ1-2]
ENST00000379925; ENSP00000369257; ENSG00000103494.
GeneIDi23322.
KEGGihsa:23322.
UCSCiuc002eho.4. human. [Q68CZ1-2]
uc002ehp.3. 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_001127897.2. [Q68CZ1-2]
NP_056087.2. NM_015272.3. [Q68CZ1-1]
XP_011521270.1. XM_011522968.1. [Q68CZ1-1]
UniGeneiHs.298382.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2YRBNMR-A595-737[»]
ProteinModelPortaliQ68CZ1.
SMRiQ68CZ1. Positions 595-737.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116911. 5 interactions.
IntActiQ68CZ1. 2 interactions.
STRINGi9606.ENSP00000369257.

PTM databases

PhosphoSiteiQ68CZ1.

Polymorphism and mutation databases

BioMutaiRPGRIP1L.
DMDMi296434514.

Proteomic databases

MaxQBiQ68CZ1.
PaxDbiQ68CZ1.
PRIDEiQ68CZ1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262135; ENSP00000262135; ENSG00000103494. [Q68CZ1-2]
ENST00000379925; ENSP00000369257; ENSG00000103494.
GeneIDi23322.
KEGGihsa:23322.
UCSCiuc002eho.4. human. [Q68CZ1-2]
uc002ehp.3. human. [Q68CZ1-1]

Organism-specific databases

CTDi23322.
GeneCardsiGC16M053633.
GeneReviewsiRPGRIP1L.
HGNCiHGNC:29168. RPGRIP1L.
HPAiHPA039405.
HPA040530.
MIMi216360. phenotype.
610937. gene.
611560. phenotype.
611561. phenotype.
neXtProtiNX_Q68CZ1.
Orphaneti1454. Joubert syndrome with hepatic defect.
220497. Joubert syndrome with renal defect.
564. Meckel syndrome.
PharmGKBiPA162401983.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG117461.
GeneTreeiENSGT00520000055620.
HOGENOMiHOG000168391.
HOVERGENiHBG106574.
InParanoidiQ68CZ1.
KOiK16550.
OMAiTHAETVQ.
OrthoDBiEOG77Q4VX.
PhylomeDBiQ68CZ1.
TreeFamiTF328883.

Enzyme and pathway databases

ReactomeiREACT_267965. Anchoring of the basal body to the plasma membrane.
REACT_268323. Hedgehog 'off' state.

Miscellaneous databases

ChiTaRSiRPGRIP1L. human.
EvolutionaryTraceiQ68CZ1.
GenomeRNAii23322.
NextBioi45220.
PROiQ68CZ1.
SOURCEiSearch...

Gene expression databases

BgeeiQ68CZ1.
CleanExiHS_RPGRIP1L.
ExpressionAtlasiQ68CZ1. baseline and differential.
GenevisibleiQ68CZ1. HS.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
IPR021656. DUF3250.
IPR031139. RPGRIP1_fam.
IPR031136. RPGRIP1L.
[Graphical view]
PANTHERiPTHR14240. PTHR14240. 1 hit.
PTHR14240:SF4. PTHR14240:SF4. 1 hit.
PfamiPF00168. C2. 1 hit.
PF11618. DUF3250. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 2 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 2 hits.
PROSITEiPS50004. C2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Endometrial adenocarcinoma.
  2. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] OF 1-351 (ISOFORMS 1/2).
    Tissue: Testis.
  4. "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 181-1315 (ISOFORM 2).
    Tissue: Brain.
  5. Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INVOLVEMENT IN MKS5, VARIANTS JBTS7 PRO-615; ILE-677 AND PRO-695, CHARACTERIZATION OF VARIANTS JBTS7 PRO-615; ILE-677 AND PRO-695.
  6. Cited for: INTERACTION WITH NPHP4, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT JBTS7 PRO-615, CHARACTERIZATION OF VARIANT JBTS7 PRO-615.
  7. Cited for: TISSUE SPECIFICITY.
  8. Cited for: INTERACTION WITH RPGR, VARIANTS GLY-199; THR-229; SER-447; PHE-546; ILE-647; ILE-677; LEU-937; SER-1025; GLY-1183; ASN-1264 AND TYR-1264, VARIANT MKS5 CYS-1236, CHARACTERIZATION OF VARIANT THR-229, ASSOCIATION OF VARIANT THR-229 WITH RETINAL DEGENERATION IN CILIOPATHIES.
  9. "Thromboxane A2-induced signal transduction is negatively regulated by KIAA1005 that directly interacts with thromboxane A2 receptor."
    Tokue S., Sasaki M., Nakahata N.
    Prostaglandins Other Lipid Mediat. 89:8-15(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH TBXA2R, TISSUE SPECIFICITY.
  10. Cited for: SUBCELLULAR LOCATION, INTERACTION WITH NPHP4 AND IQCB1.
  11. "The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase."
    Coene K.L., Mans D.A., Boldt K., Gloeckner C.J., van Reeuwijk J., Bolat E., Roosing S., Letteboer S.J., Peters T.A., Cremers F.P., Ueffing M., Roepman R.
    Hum. Mol. Genet. 20:3592-3605(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INTERACTION WITH RPGR AND NEK4.
  12. Cited for: INVOLVEMENT IN CILIOPATHIES, VARIANT GLY-1183.
  13. "Solution structure of the first C2 domain from human KIAA1005 protein."
    RIKEN structural genomics initiative (RSGI)
    Submitted (OCT-2007) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 595-737.
  14. Cited for: VARIANT COACHS PRO-659.
  15. Cited for: VARIANT JBTS7 ARG-550.

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: July 22, 2015
This is version 104 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

External Data

Dasty 3

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 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.