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Q68CZ1

- FTM_HUMAN

UniProt

Q68CZ1 - FTM_HUMAN

Protein

Protein fantom

Gene

RPGRIP1L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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

    1. protein binding Source: UniProtKB
    2. thromboxane A2 receptor binding Source: UniProtKB

    GO - Biological processi

    1. camera-type eye development Source: Ensembl
    2. cerebellum development Source: Ensembl
    3. cilium assembly Source: Ensembl
    4. corpus callosum development Source: Ensembl
    5. determination of left/right symmetry Source: Ensembl
    6. embryonic forelimb morphogenesis Source: Ensembl
    7. embryonic hindlimb morphogenesis Source: Ensembl
    8. establishment or maintenance of cell polarity Source: Ensembl
    9. head development Source: Ensembl
    10. in utero embryonic development Source: Ensembl
    11. kidney development Source: Ensembl
    12. lateral ventricle development Source: Ensembl
    13. liver development Source: Ensembl
    14. negative regulation of G-protein coupled receptor protein signaling pathway Source: UniProtKB
    15. neural tube patterning Source: Ensembl
    16. nose development Source: Ensembl
    17. olfactory bulb development Source: Ensembl
    18. pericardium development Source: Ensembl
    19. regulation of smoothened signaling pathway Source: Ensembl

    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: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:29168. RPGRIP1L.

    Subcellular locationi

    Cytoplasm. Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletoncilium axoneme. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell junctiontight junction
    Note: In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions.

    GO - Cellular componenti

    1. axoneme Source: MGI
    2. cell-cell junction Source: UniProtKB
    3. centrosome Source: UniProtKB
    4. ciliary basal body Source: MGI
    5. cilium Source: MGI
    6. cytoplasm Source: MGI
    7. tight junction Source: UniProtKB-SubCell

    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) [MIM:611560]: A 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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 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) [MIM:611561]: A 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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) [MIM:216360]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.

    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

    ArrayExpressiQ68CZ1.
    BgeeiQ68CZ1.
    CleanExiHS_RPGRIP1L.
    GenevestigatoriQ68CZ1.

    Organism-specific databases

    HPAiHPA039405.

    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.4 Publications

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi116911. 3 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 – 61410
    Helixi618 – 6236
    Beta strandi630 – 6356
    Beta strandi648 – 6525
    Beta strandi657 – 6637
    Helixi667 – 6759
    Beta strandi678 – 6858
    Beta strandi690 – 6989
    Helixi702 – 7054
    Beta strandi710 – 7167
    Beta strandi718 – 7214
    Beta strandi726 – 73712

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    HOGENOMiHOG000168391.
    HOVERGENiHBG106574.
    InParanoidiQ68CZ1.
    KOiK16550.
    OMAiDPQFDDH.
    OrthoDBiEOG77Q4VX.
    PhylomeDBiQ68CZ1.
    TreeFamiTF328883.

    Family and domain databases

    Gene3Di2.60.40.150. 1 hit.
    InterProiIPR000008. C2_dom.
    IPR021656. DUF3250.
    [Graphical view]
    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. Align

    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

    MSGPTDETAG DLPVKDTGLN LFGMGGLQET STTRTMKSRQ AVSRVSREEL     50
    EDRFLRLHDE NILLKQHARK QEDKIKRMAT KLIRLVNDKK RYERVGGGPK 100
    RLGRDVEMEE MIEQLQEKVH ELEKQNETLK NRLISAKQQL QTQGYRQTPY 150
    NNVQSRINTG RRKANENAGL QECPRKGIKF QDADVAETPH PMFTKYGNSL 200
    LEEARGEIRN LENVIQSQRG QIEELEHLAE ILKTQLRRKE NEIELSLLQL 250
    REQQATDQRS NIRDNVEMIK LHKQLVEKSN ALSAMEGKFI QLQEKQRTLR 300
    ISHDALMANG DELNMQLKEQ RLKCCSLEKQ LHSMKFSERR IEELQDRIND 350
    LEKERELLKE NYDKLYDSAF SAAHEEQWKL KEQQLKVQIA QLETALKSDL 400
    TDKTEILDRL KTERDQNEKL VQENRELQLQ YLEQKQQLDE LKKRIKLYNQ 450
    ENDINADELS EALLLIKAQK EQKNGDLSFL VKVDSEINKD LERSMRELQA 500
    THAETVQELE KTRNMLIMQH KINKDYQMEV EAVTRKMENL QQDYELKVEQ 550
    YVHLLDIRAA RIHKLEAQLK DIAYGTKQYK FKPEIMPDDS VDEFDETIHL 600
    ERGENLFEIH INKVTFSSEV LQASGDKEPV TFCTYAFYDF ELQTTPVVRG 650
    LHPEYNFTSQ YLVHVNDLFL QYIQKNTITL EVHQAYSTEY ETIAACQLKF 700
    HEILEKSGRI FCTASLIGTK GDIPNFGTVE YWFRLRVPMD QAIRLYRERA 750
    KALGYITSNF KGPEHMQSLS QQAPKTAQLS STDSTDGNLN ELHITIRCCN 800
    HLQSRASHLQ PHPYVVYKFF DFADHDTAII PSSNDPQFDD HMYFPVPMNM 850
    DLDRYLKSES LSFYVFDDSD TQENIYIGKV NVPLISLAHD RCISGIFELT 900
    DHQKHPAGTI HVILKWKFAY LPPSGSITTE DLGNFIRSEE PEVVQRLPPA 950
    SSVSTLVLAP RPKPRQRLTP VDKKVSFVDI MPHQSDETSP PPEDRKEISP 1000
    EVEHIPEIEI NMLTVPHVPK VSQEGSVDEV KENTEKMQQG KDDVSLLSEG 1050
    QLAEQSLASS EDETEITEDL EPEVEEDMSA SDSDDCIIPG PISKNIKQSL 1100
    ALSPGLGCSS AISAHCNFRL PGSSDFPASA SQVDGITGAC HHTQPSEKIR 1150
    IEIIALSLND SQVTMDDTIQ RLFVECRFYS LPAEETPVSL PKPKSGQWVY 1200
    YNYSNVIYVD KENNKAKRDI LKAILQKQEM PNRSLRFTVV SDPPEDEQDL 1250
    ECEDIGVAHV DLADMFQEGR DLIEQNIDVF DARADGEGIG KLRVTVEALH 1300
    ALQSVYKQYR DDLEA 1315
    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; abrogates interaction with RPGR; found in patients with Leber congenital amaurosis, Senior-Loken syndrome, Joubert syndrome and Bardet-Biedl syndrome. 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 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 a patient with cystic kidney dysplasia, retinitis pigmentosa and cerebellar ataxia without molar tooth sign; 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:
    EMBL
    GenBank
    DDBJ
    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_001127897.1. [Q68CZ1-2]
    NP_056087.2. NM_015272.2. [Q68CZ1-1]
    UniGeneiHs.298382.

    Genome annotation databases

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

    Polymorphism databases

    DMDMi296434514.

    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS32447.1. [Q68CZ1-1 ]
    CCDS45486.1. [Q68CZ1-2 ]
    RefSeqi NP_001121369.1. NM_001127897.1. [Q68CZ1-2 ]
    NP_056087.2. NM_015272.2. [Q68CZ1-1 ]
    UniGenei Hs.298382.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2YRB NMR - A 595-737 [» ]
    ProteinModelPortali Q68CZ1.
    SMRi Q68CZ1. Positions 595-737.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116911. 3 interactions.
    IntActi Q68CZ1. 2 interactions.
    STRINGi 9606.ENSP00000369257.

    PTM databases

    PhosphoSitei Q68CZ1.

    Polymorphism databases

    DMDMi 296434514.

    Proteomic databases

    MaxQBi Q68CZ1.
    PaxDbi Q68CZ1.
    PRIDEi Q68CZ1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262135 ; ENSP00000262135 ; ENSG00000103494 . [Q68CZ1-2 ]
    ENST00000379925 ; ENSP00000369257 ; ENSG00000103494 . [Q68CZ1-1 ]
    GeneIDi 23322.
    KEGGi hsa:23322.
    UCSCi uc002eho.4. human. [Q68CZ1-2 ]
    uc002ehp.3. human. [Q68CZ1-1 ]

    Organism-specific databases

    CTDi 23322.
    GeneCardsi GC16M053633.
    GeneReviewsi RPGRIP1L.
    HGNCi HGNC:29168. RPGRIP1L.
    HPAi HPA039405.
    MIMi 216360. phenotype.
    610937. gene.
    611560. phenotype.
    611561. phenotype.
    neXtProti NX_Q68CZ1.
    Orphaneti 1454. Joubert syndrome with hepatic defect.
    220497. Joubert syndrome with renal defect.
    564. Meckel syndrome.
    PharmGKBi PA162401983.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG117461.
    HOGENOMi HOG000168391.
    HOVERGENi HBG106574.
    InParanoidi Q68CZ1.
    KOi K16550.
    OMAi DPQFDDH.
    OrthoDBi EOG77Q4VX.
    PhylomeDBi Q68CZ1.
    TreeFami TF328883.

    Miscellaneous databases

    ChiTaRSi RPGRIP1L. human.
    EvolutionaryTracei Q68CZ1.
    GenomeRNAii 23322.
    NextBioi 45220.
    PROi Q68CZ1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q68CZ1.
    Bgeei Q68CZ1.
    CleanExi HS_RPGRIP1L.
    Genevestigatori Q68CZ1.

    Family and domain databases

    Gene3Di 2.60.40.150. 1 hit.
    InterProi IPR000008. C2_dom.
    IPR021656. DUF3250.
    [Graphical view ]
    Pfami PF00168. C2. 1 hit.
    PF11618. DUF3250. 1 hit.
    [Graphical view ]
    SMARTi SM00239. C2. 2 hits.
    [Graphical view ]
    SUPFAMi SSF49562. SSF49562. 2 hits.
    PROSITEi PS50004. C2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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 AND PRO-695, VARIANT ILE-677, CHARACTERIZATION OF VARIANTS JBTS7 PRO-615 AND PRO-695, CHARACTERIZATION OF VARIANT ILE-677.
    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. Cited for: INVOLVEMENT IN CILIOPATHIES, VARIANT GLY-1183.
    12. "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.
    13. Cited for: VARIANT COACHS PRO-659.
    14. 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: October 1, 2014
    This is version 95 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