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UniProtKB - Q9H799 (CPLN1_HUMAN)

Protein

Ciliogenesis and planar polarity effector 1

Gene

CPLANE1

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

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 Publication

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Ciliogenesis and planar polarity effector 1Curated
Alternative name(s):
Protein JBTS17
Gene namesi
Name:CPLANE1Imported
Synonyms:C5orf42, JBTS17Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000197603.13
HGNCiHGNC:25801 CPLANE1
MIMi614571 gene
neXtProtiNX_Q9H799

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei592 – 612HelicalSequence analysisAdd BLAST21
Transmembranei631 – 651HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell projection, Membrane

Pathology & Biotechi

Involvement in diseasei

Joubert syndrome 17 (JBTS17)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:614615
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0681651336R → W in JBTS17. 2 PublicationsCorresponds to variant dbSNP:rs367543061EnsemblClinVar.1
Isoform 2 (identifier: Q9H799-5)
Natural varianti2684A → T in JBTS17. 1 Publication1
Orofaciodigital syndrome 6 (OFD6)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch.
See also OMIM:277170
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0725531127S → L in OFD6. 1 PublicationCorresponds to variant dbSNP:rs375009168EnsemblClinVar.1
Natural variantiVAR_0725541184R → C in OFD6. 1 PublicationCorresponds to variant dbSNP:rs1434631255Ensembl.1
Natural variantiVAR_0725551193R → C in OFD6. 1 PublicationCorresponds to variant dbSNP:rs149170427EnsemblClinVar.1
Natural variantiVAR_0775581200A → V in OFD6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141153181EnsemblClinVar.1
Natural variantiVAR_0725561287D → H in OFD6. 1 PublicationCorresponds to variant dbSNP:rs606231261EnsemblClinVar.1
Natural variantiVAR_0767791345Q → R in OFD6. 1 PublicationCorresponds to variant dbSNP:rs869312898EnsemblClinVar.1
Natural variantiVAR_0725442837V → L in OFD6. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNETi65250
GeneReviewsiC5orf42
MalaCardsiCPLANE1
MIMi277170 phenotype
614615 phenotype
OpenTargetsiENSG00000197603
Orphaneti475 Joubert syndrome
65684 Monomelic amyotrophy
2754 Orofaciodigital syndrome type 6
PharmGKBiPA162380188

Polymorphism and mutation databases

BioMutaiC5orf42
DMDMi403314397

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003321331 – 3197Ciliogenesis and planar polarity effector 1Add BLAST3197

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2407PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H799
MaxQBiQ9H799
PaxDbiQ9H799
PeptideAtlasiQ9H799
PRIDEiQ9H799
ProteomicsDBi81091

PTM databases

iPTMnetiQ9H799
PhosphoSitePlusiQ9H799

Expressioni

Gene expression databases

BgeeiENSG00000197603 Expressed in 148 organ(s), highest expression level in kidney
CleanExiHS_C5orf42
ExpressionAtlasiQ9H799 baseline and differential
GenevisibleiQ9H799 HS

Organism-specific databases

HPAiHPA036775
HPA036776

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 similarity

Protein-protein interaction databases

BioGridi122413, 6 interactors
IntActiQ9H799, 6 interactors
STRINGi9606.ENSP00000389014

Structurei

3D structure databases

ProteinModelPortaliQ9H799
SMRiQ9H799
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili2457 – 2487Sequence analysisAdd BLAST31
Coiled coili2691 – 2724Sequence analysisAdd BLAST34

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IG9U Eukaryota
ENOG410XTEK LUCA
GeneTreeiENSGT00800000124150
HOGENOMiHOG000155525
HOVERGENiHBG107636
InParanoidiQ9H799
KOiK22859
OMAiAPNHMEL
OrthoDBiEOG091G05WO
PhylomeDBiQ9H799
TreeFamiTF351288

Family and domain databases

InterProiView protein in InterPro
IPR028236 CPLANE1
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR14492 PTHR14492, 1 hit
PfamiView protein in Pfam
PF15392 Joubert, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H799-1) [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
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
Length:3,197
Mass (Da):361,746
Last modified:September 5, 2012 - v4
Checksum:iD84DFC20FE309992
GO
Isoform 2 (identifier: Q9H799-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2604-2604: L → LVGHTYINVIDIEANDLLQ
     2652-2652: Q → QEVTPACLDGKSLRAGITEVKEPSVTSPTPSDIQQNK
     2877-2879: RIQ → SFT
     2880-3197: Missing.

Show »
Length:2,933
Mass (Da):331,433
Checksum:i59BA501F007B72CC
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y9I8H0Y9I8_HUMAN
Ciliogenesis and planar polarity ef...
CPLANE1
2,263Annotation score:
R4GNH6R4GNH6_HUMAN
Ciliogenesis and planar polarity ef...
CPLANE1
496Annotation score:
H0YA77H0YA77_HUMAN
Ciliogenesis and planar polarity ef...
CPLANE1
1,889Annotation score:

Sequence cautioni

The sequence AAH28410 differs from that shown. Contaminating sequence. Potential poly-A sequence and intronic sequence in 5'.Curated
The sequence AAI44070 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAI50595 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14513 differs from that shown. Contaminating sequence. Potential intronic sequence in 5'.Curated
The sequence BAB14513 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14999 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAB14999 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB15539 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAC04822 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1788L → S in AAI44070 (PubMed:15372022).Curated1
Sequence conflicti1788L → S in AAI50595 (PubMed:15372022).Curated1
Sequence conflicti2325N → D in BAB14999 (PubMed:15489334).Curated1
Sequence conflicti2612P → L in BAC04822 (PubMed:15489334).Curated1
Sequence conflicti2767V → A in BAC04822 (PubMed:15489334).Curated1
Sequence conflicti2786E → G in BAB15539 (PubMed:15489334).Curated1
Sequence conflicti2810 – 2811VS → CQ in AAH74774 (PubMed:15372022).Curated2
Sequence conflicti2828S → R in BAB15539 (PubMed:15489334).Curated1
Sequence conflicti2831L → W in BAB15539 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076776322W → G1 Publication1
Natural variantiVAR_076777875S → F1 PublicationCorresponds to variant dbSNP:rs794727154EnsemblClinVar.1
Natural variantiVAR_0725531127S → L in OFD6. 1 PublicationCorresponds to variant dbSNP:rs375009168EnsemblClinVar.1
Natural variantiVAR_0725541184R → C in OFD6. 1 PublicationCorresponds to variant dbSNP:rs1434631255Ensembl.1
Natural variantiVAR_0725551193R → C in OFD6. 1 PublicationCorresponds to variant dbSNP:rs149170427EnsemblClinVar.1
Natural variantiVAR_0767781196L → R1 Publication1
Natural variantiVAR_0775581200A → V in OFD6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141153181EnsemblClinVar.1
Natural variantiVAR_0725561287D → H in OFD6. 1 PublicationCorresponds to variant dbSNP:rs606231261EnsemblClinVar.1
Natural variantiVAR_0681651336R → W in JBTS17. 2 PublicationsCorresponds to variant dbSNP:rs367543061EnsemblClinVar.1
Natural variantiVAR_0767791345Q → R in OFD6. 1 PublicationCorresponds to variant dbSNP:rs869312898EnsemblClinVar.1
Natural variantiVAR_0429481437I → T. Corresponds to variant dbSNP:rs6859950EnsemblClinVar.1
Natural variantiVAR_0767801772S → G1 PublicationCorresponds to variant dbSNP:rs79377186EnsemblClinVar.1
Natural variantiVAR_0681661794P → L May be associated with susceptibility to monomelic amyotrophy. 2 PublicationsCorresponds to variant dbSNP:rs75589774EnsemblClinVar.1
Natural variantiVAR_0429492033F → C1 PublicationCorresponds to variant dbSNP:rs10076911EnsemblClinVar.1
Natural variantiVAR_0681672033F → S. Corresponds to variant dbSNP:rs10076911EnsemblClinVar.1
Natural variantiVAR_0429502143I → V. Corresponds to variant dbSNP:rs6884652EnsemblClinVar.1
Natural variantiVAR_0429512592P → L. Corresponds to variant dbSNP:rs16903518EnsemblClinVar.1
Natural variantiVAR_0767812750P → S1 PublicationCorresponds to variant dbSNP:rs377107065Ensembl.1
Natural variantiVAR_0725442837V → L in OFD6. 1 Publication1
Natural variantiVAR_0429523062G → R. Corresponds to variant dbSNP:rs7702892EnsemblClinVar.1
Isoform 2 (identifier: Q9H799-5)
Natural varianti2684A → T in JBTS17. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0440522604L → LVGHTYINVIDIEANDLLQ in isoform 2. 1 Publication1
Alternative sequenceiVSP_0440532652Q → QEVTPACLDGKSLRAGITEV KEPSVTSPTPSDIQQNK in isoform 2. 1 Publication1
Alternative sequenceiVSP_0440542877 – 2879RIQ → SFT in isoform 2. 1 Publication3
Alternative sequenceiVSP_0440552880 – 3197Missing in isoform 2. 1 PublicationAdd BLAST318

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.
CCDSiCCDS34146.2 [Q9H799-1]
RefSeqiNP_075561.3, NM_023073.3 [Q9H799-1]
UniGeneiHs.586199
Hs.634653

Genome annotation databases

EnsembliENST00000425232; ENSP00000389014; ENSG00000197603 [Q9H799-1]
ENST00000508244; ENSP00000421690; ENSG00000197603 [Q9H799-1]
GeneIDi65250
KEGGihsa:65250
UCSCiuc011cpa.1 human [Q9H799-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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.
CCDSiCCDS34146.2 [Q9H799-1]
RefSeqiNP_075561.3, NM_023073.3 [Q9H799-1]
UniGeneiHs.586199
Hs.634653

3D structure databases

ProteinModelPortaliQ9H799
SMRiQ9H799
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122413, 6 interactors
IntActiQ9H799, 6 interactors
STRINGi9606.ENSP00000389014

PTM databases

iPTMnetiQ9H799
PhosphoSitePlusiQ9H799

Polymorphism and mutation databases

BioMutaiC5orf42
DMDMi403314397

Proteomic databases

EPDiQ9H799
MaxQBiQ9H799
PaxDbiQ9H799
PeptideAtlasiQ9H799
PRIDEiQ9H799
ProteomicsDBi81091

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000425232; ENSP00000389014; ENSG00000197603 [Q9H799-1]
ENST00000508244; ENSP00000421690; ENSG00000197603 [Q9H799-1]
GeneIDi65250
KEGGihsa:65250
UCSCiuc011cpa.1 human [Q9H799-1]

Organism-specific databases

CTDi65250
DisGeNETi65250
EuPathDBiHostDB:ENSG00000197603.13
GeneCardsiCPLANE1
GeneReviewsiC5orf42
HGNCiHGNC:25801 CPLANE1
HPAiHPA036775
HPA036776
MalaCardsiCPLANE1
MIMi277170 phenotype
614571 gene
614615 phenotype
neXtProtiNX_Q9H799
OpenTargetsiENSG00000197603
Orphaneti475 Joubert syndrome
65684 Monomelic amyotrophy
2754 Orofaciodigital syndrome type 6
PharmGKBiPA162380188
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG9U Eukaryota
ENOG410XTEK LUCA
GeneTreeiENSGT00800000124150
HOGENOMiHOG000155525
HOVERGENiHBG107636
InParanoidiQ9H799
KOiK22859
OMAiAPNHMEL
OrthoDBiEOG091G05WO
PhylomeDBiQ9H799
TreeFamiTF351288

Miscellaneous databases

ChiTaRSiC5orf42 human
GeneWikiiC5orf42
GenomeRNAii65250
PROiPR:Q9H799
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197603 Expressed in 148 organ(s), highest expression level in kidney
CleanExiHS_C5orf42
ExpressionAtlasiQ9H799 baseline and differential
GenevisibleiQ9H799 HS

Family and domain databases

InterProiView protein in InterPro
IPR028236 CPLANE1
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR14492 PTHR14492, 1 hit
PfamiView protein in Pfam
PF15392 Joubert, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCPLN1_HUMAN
AccessioniPrimary (citable) accession number: Q9H799
Secondary accession number(s): A8MUB7
, B7ZLV7, Q4G174, Q6DK46, Q8N8L4, Q9H5T1, Q9H8T9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: September 5, 2012
Last modified: November 7, 2018
This is version 111 of the entry and version 4 of the sequence. See 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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