UniProtKB - Q9H799 (CPLN1_HUMAN)
Ciliogenesis and planar polarity effector 1
CPLANE1
Functioni
Involved in ciliogenesis (PubMed:25877302).
Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies (By similarity).
By similarity1 PublicationGO - Biological processi
- cilium assembly Source: GO_Central
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | Q9H799 |
SignaLinki | Q9H799 |
Names & Taxonomyi
Protein namesi | Recommended name: Ciliogenesis and planar polarity effector 1CuratedAlternative name(s): Protein JBTS17 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25801, CPLANE1 |
MIMi | 614571, gene |
neXtProti | NX_Q9H799 |
VEuPathDBi | HostDB:ENSG00000197603 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
- cilium By similarity
Note: Localizes to the ciliary transition zone.By similarity
Other locations
- ciliary transition zone Source: GO_Central
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 592 – 612 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 631 – 651 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cell projection, MembranePathology & Biotechi
Involvement in diseasei
Joubert syndrome 17 (JBTS17)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_068165 | 1336 | R → W in JBTS17. 2 PublicationsCorresponds to variant dbSNP:rs367543061EnsemblClinVar. | 1 | ||
Isoform 2 (identifier: Q9H799-5) | |||||
Natural variantiVAR_082878 | 2684 | A → T in JBTS17. 1 Publication | 1 |
Orofaciodigital syndrome 6 (OFD6)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072553 | 1127 | S → L in OFD6. 1 PublicationCorresponds to variant dbSNP:rs375009168EnsemblClinVar. | 1 | |
Natural variantiVAR_072554 | 1184 | R → C in OFD6. 1 PublicationCorresponds to variant dbSNP:rs1434631255Ensembl. | 1 | |
Natural variantiVAR_072555 | 1193 | R → C in OFD6. 1 PublicationCorresponds to variant dbSNP:rs149170427EnsemblClinVar. | 1 | |
Natural variantiVAR_077558 | 1200 | A → V in OFD6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141153181EnsemblClinVar. | 1 | |
Natural variantiVAR_072556 | 1287 | D → H in OFD6. 1 PublicationCorresponds to variant dbSNP:rs606231261EnsemblClinVar. | 1 | |
Natural variantiVAR_076779 | 1345 | Q → R in OFD6. 1 PublicationCorresponds to variant dbSNP:rs869312898EnsemblClinVar. | 1 | |
Natural variantiVAR_072544 | 2837 | V → L in OFD6. 1 Publication | 1 |
Keywords - Diseasei
Ciliopathy, Disease variant, Joubert syndromeOrganism-specific databases
DisGeNETi | 65250 |
GeneReviewsi | CPLANE1 |
MalaCardsi | CPLANE1 |
MIMi | 277170, phenotype 614615, phenotype |
OpenTargetsi | ENSG00000197603 |
Orphaneti | 475, Joubert syndrome 65684, Monomelic amyotrophy 2754, Orofaciodigital syndrome type 6 |
PharmGKBi | PA162380188 |
Miscellaneous databases
Pharosi | Q9H799, Tbio |
Genetic variation databases
BioMutai | C5orf42 |
DMDMi | 403314397 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000332133 | 1 – 3197 | Ciliogenesis and planar polarity effector 1Add BLAST | 3197 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2407 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9H799 |
jPOSTi | Q9H799 |
MassIVEi | Q9H799 |
MaxQBi | Q9H799 |
PaxDbi | Q9H799 |
PeptideAtlasi | Q9H799 |
PRIDEi | Q9H799 |
ProteomicsDBi | 81091 [Q9H799-1] |
PTM databases
iPTMneti | Q9H799 |
PhosphoSitePlusi | Q9H799 |
Expressioni
Gene expression databases
Bgeei | ENSG00000197603, Expressed in kidney and 164 other tissues |
ExpressionAtlasi | Q9H799, baseline and differential |
Genevisiblei | Q9H799, HS |
Organism-specific databases
HPAi | ENSG00000197603, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with FUZ; INTU and WDPCP; the interactors are proposed to form the core CPLANE (ciliogenesis and planar polarity effectors) complex.
By similarityProtein-protein interaction databases
BioGRIDi | 122413, 13 interactors |
IntActi | Q9H799, 13 interactors |
MINTi | Q9H799 |
STRINGi | 9606.ENSP00000389014 |
Miscellaneous databases
RNActi | Q9H799, protein |
Structurei
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1822 – 1852 | DisorderedSequence analysisAdd BLAST | 31 | |
Regioni | 2118 – 2188 | DisorderedSequence analysisAdd BLAST | 71 | |
Regioni | 2453 – 2477 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 2771 – 2793 | DisorderedSequence analysisAdd BLAST | 23 | |
Regioni | 2810 – 2831 | DisorderedSequence analysisAdd BLAST | 22 | |
Regioni | 2982 – 3013 | DisorderedSequence analysisAdd BLAST | 32 | |
Regioni | 3140 – 3160 | DisorderedSequence analysisAdd BLAST | 21 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 2457 – 2487 | Sequence analysisAdd BLAST | 31 | |
Coiled coili | 2691 – 2724 | Sequence analysisAdd BLAST | 34 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 2140 – 2162 | Polar residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 2172 – 2188 | Polar residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 2455 – 2477 | Basic and acidic residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 2771 – 2788 | Basic and acidic residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 2992 – 3008 | Polar residuesSequence analysisAdd BLAST | 17 |
Keywords - Domaini
Coiled coil, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QRD2, Eukaryota |
GeneTreei | ENSGT00800000124150 |
HOGENOMi | CLU_226347_0_0_1 |
InParanoidi | Q9H799 |
OMAi | QKRGPIP |
OrthoDBi | 55296at2759 |
PhylomeDBi | Q9H799 |
TreeFami | TF351288 |
Family and domain databases
InterProi | View protein in InterPro IPR028236, CPLANE1 IPR036322, WD40_repeat_dom_sf |
PANTHERi | PTHR14492, PTHR14492, 1 hit |
Pfami | View protein in Pfam PF15392, Joubert, 1 hit |
SUPFAMi | SSF50978, SSF50978, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEIRLEILTS TGIKQKKPWP RVSWLGKEKE AVFLLDDKFI NEINLLSGKI
60 70 80 90 100
KKKIPSLQPF LKDVIVLTTS SNDAWLAGVL TTGELFLWNK DQDCLKTIPI
110 120 130 140 150
TEKPKEMIKA TVASSLRLYL YVSGNGKRIV LITPSGCIFL WEYLELKNIL
160 170 180 190 200
SSKSLSLAGR WSQVIPEEAV LLPSTEDKEA VVNAVFIKNE LFGDCCLCSF
210 220 230 240 250
TFYSGECLKL TFLAIRWHEN VFTSVRSLPY HVHWAQQDCH LCSLIPKCES
260 270 280 290 300
VKSRGALISA FSRDGLTLAV TLNQKDPKAT QVLFINTLNF VTLCGSLKGC
310 320 330 340 350
SNKSPVVPAT LIRSYWVGDI SWTHDSLFLA CMLKRGSLVL LTCQGELLTL
360 370 380 390 400
ITFGCSIEFG PAEFIPLHPL ITYRPQQFTF QDSNNSVDSS ASDSDPMRQR
410 420 430 440 450
FSIKAHSRLP YLVISDGYMV TTLRFLDSLS PSVHMRSLLL DSTQRLEKIY
460 470 480 490 500
QSVILSKPKG KGLNLRSLNS LRSSLLEHQG NESSADFTVP KFLQAEETIN
510 520 530 540 550
ENAADFQDFE AEETNEGRHF PDNLCPFWNK RDDVLCSSMK EGRLEFASMF
560 570 580 590 600
DTIHAKDDSE ETDRTITELH SIQKSLLAAW TIGISKTVTE KNLMLNYIVV
610 620 630 640 650
CITHFFYILQ FIKCPFPKLD LVLSKSSRHN AWILCIFQLF HQCLSIHYWD
660 670 680 690 700
IRYKQDVGHL IKLTSNTVKL LLTQQQKGQL FSEKLLACFY LLKMVADNLN
710 720 730 740 750
GVYILQPEVI SASADGSKIT AQDSLVVPIF QMFQDSGFQK NWSWNSFFKI
760 770 780 790 800
HPQVVNPVQQ PGHRLLILWR ILYKKTLWYQ AQLNRRVPEA DSQLTEKMTH
810 820 830 840 850
EASTVKSLLC HLQANLQSTG DCLNQTLELK SINGEECFLL GSYEKSVQLW
860 870 880 890 900
KKALQEIEEK GGRRTYFLQI RYYLSLLYCH LYSYNLNDAQ GLCDQLAREI
910 920 930 940 950
LRWSQLPVKE NKDFSGAAKS HFECGMVGGV HPEAAVRVVQ SMARFMAAYF
960 970 980 990 1000
TNQQLCILPP HHVNVLPPLH IKTEQSFRLI PLQHSKVASV VRDQNLSNVW
1010 1020 1030 1040 1050
TVEYALELLF IGGLVPEAVW LAYKLGDWKT SVSIGVAFQL FCKRDSNFMR
1060 1070 1080 1090 1100
SKKKSLNLPL RMTPAQIFQE KLQCVLGQPA SLEAKNEMGS KYKQFTDPIE
1110 1120 1130 1140 1150
EEDANLLFGS VQEVLKASVM ADADILSETF QLLIDSAKDF SKRLWGLVPF
1160 1170 1180 1190 1200
GLYLPAPPLY CPQPAILSEE DGDDLLLKAE KNNRQKVSGI LQRVLLLFRA
1210 1220 1230 1240 1250
AQCSFPVAQW YILQLRWARK VMQKIRMKGS LPSLSPFPQS LLNYCKGGIA
1260 1270 1280 1290 1300
FFRPGAAGDH KLDEVSIRAI GCFRELCALC WMLHVRDKLS YSCRQYQKAR
1310 1320 1330 1340 1350
ENVKGEKDLE VEFDSCMIEH CLSAVEWAYR MLPFSRFFNM EELIQDIILS
1360 1370 1380 1390 1400
LIGELPPIRK VAEIFVKAFP YPEDVRVPLR DKYHSLHQRL RHCVVKGPQT
1410 1420 1430 1440 1450
EEMMSVVMHS IQKVRVKALK RVQRNIGSFE VNIWEPIEEE KPDEAPGVDR
1460 1470 1480 1490 1500
YSLGTSLSRS TLTELGDSVV HSDADTFSEA LSVEEKSRIN IYQRNAPNHM
1510 1520 1530 1540 1550
ELTSIHKPTD KRKMCNQKEN PTKKEDHEKL SQNTLPVIGV WEFERDDDEY
1560 1570 1580 1590 1600
IKFLDLFLSY ILERDLPYSR DADIPFLTSF SGKLREHELN SLLFDVHTTL
1610 1620 1630 1640 1650
KRHQSKTKSQ NVFRAGSCFV VAPESYESEK SSSLNDEYGM HLENQKLSSS
1660 1670 1680 1690 1700
VLVNQGIKPF LQYPSNEVNK NEGMSGLFGL KQRSIYKIQD DTREKCLIQR
1710 1720 1730 1740 1750
SSNHIFWTPK SIKTRRCIFK AIQCNDINPQ EDLPLALNTF GSIGRLLEWM
1760 1770 1780 1790 1800
IRWSNRRLLC DSGITESSSE YSPVIRVKTS TAAILTSLWL LEQPYFATYK
1810 1820 1830 1840 1850
AKNAIIKMVE NRDTGCQIGP NIERESKSDA GGSVAVATPG GTEERNGQNK
1860 1870 1880 1890 1900
SCQNILNRMP TEAKNPDIKE INDDIISITH NTKKEFIDID ENLLEVEAFT
1910 1920 1930 1940 1950
EEEMDMHISD YEEDIEESVG GFRSPSLAIC MMTLPQQLEE EFTEEVQCQR
1960 1970 1980 1990 2000
EEPLETIMEE KSTEQKGMIE AFSHPGHTTP QSMQVDTSSE ISSAQISTYK
2010 2020 2030 2040 2050
EKSSSVPLLI SNGVNVASQP PAPTPQKTQR NEFTAQLPDC SESVRQMLQD
2060 2070 2080 2090 2100
EMFKLVQLQQ INFMSLMQIV GSSFANLPDT QQLVQQSQSV HLGESQESNL
2110 2120 2130 2140 2150
RGCGDVEDSN KNLKERFFIK PQSMGENARE PRKNSPHCHE GTIPSGQNST
2160 2170 2180 2190 2200
GNVQNVPHGS IPLCQLNGQP RKKGPIPSSQ NLPSTSFYPA PAGNTHLYLL
2210 2220 2230 2240 2250
STPSVVQKAP RLIPHAKTFS PGDGFPLLQF KSKQEFQPLF LHTGSIPQVP
2260 2270 2280 2290 2300
FRPLPQPREA WGLSDSFQPA LPQRAAQTTP ASHLNVSQYN TEARKKEVEQ
2310 2320 2330 2340 2350
KTWAETVITE IPNHVNLDQY VGQENLTPQQ DSSVFIKPEK LFDVKPGTLE
2360 2370 2380 2390 2400
ISPHHSFGLP LLYLPLKPPN MFPSTSRASI TVPSTPIQPI AEERKYPRLS
2410 2420 2430 2440 2450
LLHSHLSPEN RCKKTQLIPL ENLIAFKQSQ QKLTHNLFEQ GDAGHLQLLK
2460 2470 2480 2490 2500
VKIEPPEVRQ GKDSKKRQRR RAEKELQEKR CEKLRRKPNV TFRPENSIIN
2510 2520 2530 2540 2550
NDDSEIIKKP KEQQEHCGSH PLDDFDVPFE MLQDDNTSAG LHFMASVKKK
2560 2570 2580 2590 2600
AIGSQDASTN TDPEHEPLTA PQLLVPDVYL NLKLSSEMSE KPWSPSIPHT
2610 2620 2630 2640 2650
VTNLELPVRE EPSNDNVIKQ QSDHLAVPSS AELHYMAASV TNAVPPHNFK
2660 2670 2680 2690 2700
SQGLPKPEFR FKGQSTKSDS AEDYLLWKRL QGVSAACPAP SSAAHQLEHL
2710 2720 2730 2740 2750
SAKLQKIDEQ LLAIQNIAEN IEQDFPKPEM LDLHCDKIGP VDHIEFSSGP
2760 2770 2780 2790 2800
EFKKTLASKT ISISEEVRFL THMDEEDQSD KKETSEPEFS ITENYSGQKT
2810 2820 2830 2840 2850
CVFPTADSAV SLSSSSDQNT TSPGMNSSDE LCESVSVHPL QMTGLTDIAD
2860 2870 2880 2890 2900
IIDDLIIKDG VSSEELGLTE QAMGTSRIQH YSGRHSQRTD KERREIQAWM
2910 2920 2930 2940 2950
KRKRKERMAK YLNELAEKRG QEHDPFCPRS NPLYMTSREI RLRQKMKHEK
2960 2970 2980 2990 3000
DRLLLSEHYS RRISQAYGLM NELLSESVQL PTLPQKPLPN KPSPTQSSSC
3010 3020 3030 3040 3050
QHCPSPRGEN QHGHSFLINR PGKVKYMSKP SYIHKRKSFG QPQGSPWPHG
3060 3070 3080 3090 3100
TATFTIQKKA GGAKAAVRKA TQSPVTFQKG SNAPCHSLQH TKKHGSAGLA
3110 3120 3130 3140 3150
PQTKQVCVEY EREETVVSPW TIPSEIHKIL HESHNSLLQD LSPTEEEEPE
3160 3170 3180 3190
HPFGVGGVDS VSESTGSILS KLDWNAIEDM VASVEDQGLS VHWALDL
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A494BZW6 | A0A494BZW6_HUMAN | Ciliogenesis and planar polarity ef... | CPLANE1 | 3,251 | Annotation score: | ||
H0Y9I8 | H0Y9I8_HUMAN | Ciliogenesis and planar polarity ef... | CPLANE1 | 2,263 | Annotation score: | ||
H0YA77 | H0YA77_HUMAN | Ciliogenesis and planar polarity ef... | CPLANE1 | 1,889 | Annotation score: | ||
A0A7I2XYG4 | A0A7I2XYG4_HUMAN | Ciliogenesis and planar polarity ef... | CPLANE1 | 134 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1788 | L → S in AAI44070 (PubMed:15372022).Curated | 1 | |
Sequence conflicti | 1788 | L → S in AAI50595 (PubMed:15372022).Curated | 1 | |
Sequence conflicti | 2325 | N → D in BAB14999 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2612 | P → L in BAC04822 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2767 | V → A in BAC04822 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2786 | E → G in BAB15539 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2810 – 2811 | VS → CQ in AAH74774 (PubMed:15372022).Curated | 2 | |
Sequence conflicti | 2828 | S → R in BAB15539 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 2831 | L → W in BAB15539 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Natural variantiVAR_076776 | 322 | W → G1 Publication | 1 | ||
Natural variantiVAR_076777 | 875 | S → F1 PublicationCorresponds to variant dbSNP:rs794727154EnsemblClinVar. | 1 | ||
Natural variantiVAR_072553 | 1127 | S → L in OFD6. 1 PublicationCorresponds to variant dbSNP:rs375009168EnsemblClinVar. | 1 | ||
Natural variantiVAR_072554 | 1184 | R → C in OFD6. 1 PublicationCorresponds to variant dbSNP:rs1434631255Ensembl. | 1 | ||
Natural variantiVAR_072555 | 1193 | R → C in OFD6. 1 PublicationCorresponds to variant dbSNP:rs149170427EnsemblClinVar. | 1 | ||
Natural variantiVAR_076778 | 1196 | L → R1 Publication | 1 | ||
Natural variantiVAR_077558 | 1200 | A → V in OFD6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141153181EnsemblClinVar. | 1 | ||
Natural variantiVAR_072556 | 1287 | D → H in OFD6. 1 PublicationCorresponds to variant dbSNP:rs606231261EnsemblClinVar. | 1 | ||
Natural variantiVAR_068165 | 1336 | R → W in JBTS17. 2 PublicationsCorresponds to variant dbSNP:rs367543061EnsemblClinVar. | 1 | ||
Natural variantiVAR_076779 | 1345 | Q → R in OFD6. 1 PublicationCorresponds to variant dbSNP:rs869312898EnsemblClinVar. | 1 | ||
Natural variantiVAR_042948 | 1437 | I → T. Corresponds to variant dbSNP:rs6859950EnsemblClinVar. | 1 | ||
Natural variantiVAR_076780 | 1772 | S → G1 PublicationCorresponds to variant dbSNP:rs79377186EnsemblClinVar. | 1 | ||
Natural variantiVAR_068166 | 1794 | P → L May be associated with susceptibility to monomelic amyotrophy. 2 PublicationsCorresponds to variant dbSNP:rs75589774EnsemblClinVar. | 1 | ||
Natural variantiVAR_042949 | 2033 | F → C1 PublicationCorresponds to variant dbSNP:rs10076911EnsemblClinVar. | 1 | ||
Natural variantiVAR_068167 | 2033 | F → S. Corresponds to variant dbSNP:rs10076911EnsemblClinVar. | 1 | ||
Natural variantiVAR_042950 | 2143 | I → V. Corresponds to variant dbSNP:rs6884652EnsemblClinVar. | 1 | ||
Natural variantiVAR_042951 | 2592 | P → L. Corresponds to variant dbSNP:rs16903518EnsemblClinVar. | 1 | ||
Natural variantiVAR_076781 | 2750 | P → S1 PublicationCorresponds to variant dbSNP:rs377107065Ensembl. | 1 | ||
Natural variantiVAR_072544 | 2837 | V → L in OFD6. 1 Publication | 1 | ||
Natural variantiVAR_042952 | 3062 | G → R. Corresponds to variant dbSNP:rs7702892Ensembl. | 1 | ||
Isoform 2 (identifier: Q9H799-5) | |||||
Natural variantiVAR_082878 | 2684 | A → T in JBTS17. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044052 | 2604 | L → LVGHTYINVIDIEANDLLQ in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_044053 | 2652 | Q → QEVTPACLDGKSLRAGITEV KEPSVTSPTPSDIQQNK in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_044054 | 2877 – 2879 | RIQ → SFT in isoform 2. 1 Publication | 3 | |
Alternative sequenceiVSP_044055 | 2880 – 3197 | Missing in isoform 2. 1 PublicationAdd BLAST | 318 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC008925 Genomic DNA No translation available. AC025449 Genomic DNA No translation available. BC028410 mRNA Translation: AAH28410.1 Sequence problems. BC074774 mRNA Translation: AAH74774.2 BC144069 mRNA Translation: AAI44070.1 Different initiation. BC150594 mRNA Translation: AAI50595.1 Different initiation. AK023293 mRNA Translation: BAB14513.1 Sequence problems. AK024779 mRNA Translation: BAB14999.1 Sequence problems. AK026735 mRNA Translation: BAB15539.1 Different initiation. AK096581 mRNA Translation: BAC04822.1 Different initiation. |
CCDSi | CCDS34146.2 [Q9H799-1] |
RefSeqi | NP_075561.3, NM_023073.3 [Q9H799-1] |
Genome annotation databases
Ensembli | ENST00000508244.5; ENSP00000421690.1; ENSG00000197603.16 |
GeneIDi | 65250 |
KEGGi | hsa:65250 |
UCSCi | uc011cpa.1, human [Q9H799-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC008925 Genomic DNA No translation available. AC025449 Genomic DNA No translation available. BC028410 mRNA Translation: AAH28410.1 Sequence problems. BC074774 mRNA Translation: AAH74774.2 BC144069 mRNA Translation: AAI44070.1 Different initiation. BC150594 mRNA Translation: AAI50595.1 Different initiation. AK023293 mRNA Translation: BAB14513.1 Sequence problems. AK024779 mRNA Translation: BAB14999.1 Sequence problems. AK026735 mRNA Translation: BAB15539.1 Different initiation. AK096581 mRNA Translation: BAC04822.1 Different initiation. |
CCDSi | CCDS34146.2 [Q9H799-1] |
RefSeqi | NP_075561.3, NM_023073.3 [Q9H799-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 122413, 13 interactors |
IntActi | Q9H799, 13 interactors |
MINTi | Q9H799 |
STRINGi | 9606.ENSP00000389014 |
PTM databases
iPTMneti | Q9H799 |
PhosphoSitePlusi | Q9H799 |
Genetic variation databases
BioMutai | C5orf42 |
DMDMi | 403314397 |
Proteomic databases
EPDi | Q9H799 |
jPOSTi | Q9H799 |
MassIVEi | Q9H799 |
MaxQBi | Q9H799 |
PaxDbi | Q9H799 |
PeptideAtlasi | Q9H799 |
PRIDEi | Q9H799 |
ProteomicsDBi | 81091 [Q9H799-1] |
Protocols and materials databases
Antibodypediai | 51274, 46 antibodies from 8 providers |
DNASUi | 65250 |
Genome annotation databases
Ensembli | ENST00000508244.5; ENSP00000421690.1; ENSG00000197603.16 |
GeneIDi | 65250 |
KEGGi | hsa:65250 |
UCSCi | uc011cpa.1, human [Q9H799-1] |
Organism-specific databases
CTDi | 65250 |
DisGeNETi | 65250 |
GeneCardsi | CPLANE1 |
GeneReviewsi | CPLANE1 |
HGNCi | HGNC:25801, CPLANE1 |
HPAi | ENSG00000197603, Low tissue specificity |
MalaCardsi | CPLANE1 |
MIMi | 277170, phenotype 614571, gene 614615, phenotype |
neXtProti | NX_Q9H799 |
OpenTargetsi | ENSG00000197603 |
Orphaneti | 475, Joubert syndrome 65684, Monomelic amyotrophy 2754, Orofaciodigital syndrome type 6 |
PharmGKBi | PA162380188 |
VEuPathDBi | HostDB:ENSG00000197603 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRD2, Eukaryota |
GeneTreei | ENSGT00800000124150 |
HOGENOMi | CLU_226347_0_0_1 |
InParanoidi | Q9H799 |
OMAi | QKRGPIP |
OrthoDBi | 55296at2759 |
PhylomeDBi | Q9H799 |
TreeFami | TF351288 |
Enzyme and pathway databases
PathwayCommonsi | Q9H799 |
SignaLinki | Q9H799 |
Miscellaneous databases
BioGRID-ORCSi | 65250, 6 hits in 1064 CRISPR screens |
ChiTaRSi | C5orf42, human |
GeneWikii | C5orf42 |
GenomeRNAii | 65250 |
Pharosi | Q9H799, Tbio |
PROi | PR:Q9H799 |
RNActi | Q9H799, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000197603, Expressed in kidney and 164 other tissues |
ExpressionAtlasi | Q9H799, baseline and differential |
Genevisiblei | Q9H799, HS |
Family and domain databases
InterProi | View protein in InterPro IPR028236, CPLANE1 IPR036322, WD40_repeat_dom_sf |
PANTHERi | PTHR14492, PTHR14492, 1 hit |
Pfami | View protein in Pfam PF15392, Joubert, 1 hit |
SUPFAMi | SSF50978, SSF50978, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | CPLN1_HUMAN | |
Accessioni | Q9H799Primary (citable) accession number: Q9H799 Secondary accession number(s): A8MUB7 Q9H8T9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 29, 2008 |
Last sequence update: | September 5, 2012 | |
Last modified: | May 25, 2022 | |
This is version 132 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot