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Protein

Protein JBTS17

Gene

C5orf42

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciZFISH:G66-31105-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein JBTS17
Alternative name(s):
Protein C5orf42
Gene namesi
Name:C5orf42
Synonyms:JBTS17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:25801. C5orf42.

Subcellular locationi

  • Membrane Curated; Multi-pass membrane protein Curated
  • Cell projectioncilium By similarity

  • Note: Localizes to the ciliary transition zone.By similarity

Topology

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

GO - Cellular componenti

Complete GO annotation...

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 rs367543061dbSNPEnsembl.1
Isoform 2 (identifier: Q9H799-5)
Natural varianti2684A → T in JBTS17. 1 Publication1
Orofaciodigital syndrome 6 (OFD6)1 Publication
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 rs375009168dbSNPEnsembl.1
Natural variantiVAR_0725541184R → C in OFD6. 1 Publication1
Natural variantiVAR_0725551193R → C in OFD6. 1 PublicationCorresponds to variant rs149170427dbSNPEnsembl.1
Natural variantiVAR_0725561287D → H in OFD6. 1 PublicationCorresponds to variant rs606231261dbSNPEnsembl.1
Natural variantiVAR_0767791345Q → R in OFD6. 1 Publication1
Natural variantiVAR_0725442837V → L in OFD6. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNETi65250.
MalaCardsiC5orf42.
MIMi277170. phenotype.
614615. phenotype.
OpenTargetsiENSG00000197603.
Orphaneti475. Joubert syndrome.
2754. Joubert syndrome with orofaciodigital defect.
65684. Monomelic amyotrophy.
PharmGKBiPA162380188.

Polymorphism and mutation databases

BioMutaiC5orf42.
DMDMi403314397.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003321331 – 3197Protein JBTS17Add BLAST3197

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2407PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9H799.
PaxDbiQ9H799.
PeptideAtlasiQ9H799.
PRIDEiQ9H799.

PTM databases

iPTMnetiQ9H799.
PhosphoSitePlusiQ9H799.

Expressioni

Gene expression databases

BgeeiENSG00000197603.
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.
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.
OMAiCNDINPQ.
OrthoDBiEOG091G05WO.
PhylomeDBiQ9H799.
TreeFamiTF351288.

Family and domain databases

InterProiIPR028236. Joubert.
[Graphical view]
PANTHERiPTHR14492. PTHR14492. 1 hit.
PfamiPF15392. Joubert. 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: 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

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 → G.1 Publication1
Natural variantiVAR_076777875S → F.1 Publication1
Natural variantiVAR_0725531127S → L in OFD6. 1 PublicationCorresponds to variant rs375009168dbSNPEnsembl.1
Natural variantiVAR_0725541184R → C in OFD6. 1 Publication1
Natural variantiVAR_0725551193R → C in OFD6. 1 PublicationCorresponds to variant rs149170427dbSNPEnsembl.1
Natural variantiVAR_0767781196L → R.1 Publication1
Natural variantiVAR_0725561287D → H in OFD6. 1 PublicationCorresponds to variant rs606231261dbSNPEnsembl.1
Natural variantiVAR_0681651336R → W in JBTS17. 2 PublicationsCorresponds to variant rs367543061dbSNPEnsembl.1
Natural variantiVAR_0767791345Q → R in OFD6. 1 Publication1
Natural variantiVAR_0429481437I → T.Corresponds to variant rs6859950dbSNPEnsembl.1
Natural variantiVAR_0767801772S → G.1 Publication1
Natural variantiVAR_0681661794P → L May be associated with susceptibility to monomelic amyotrophy. 2 PublicationsCorresponds to variant rs75589774dbSNPEnsembl.1
Natural variantiVAR_0429492033F → C.1 PublicationCorresponds to variant rs10076911dbSNPEnsembl.1
Natural variantiVAR_0681672033F → S.Corresponds to variant rs10076911dbSNPEnsembl.1
Natural variantiVAR_0429502143I → V.Corresponds to variant rs6884652dbSNPEnsembl.1
Natural variantiVAR_0429512592P → L.Corresponds to variant rs16903518dbSNPEnsembl.1
Natural variantiVAR_0767812750P → S.1 Publication1
Natural variantiVAR_0725442837V → L in OFD6. 1 Publication1
Natural variantiVAR_0429523062G → R.Corresponds to variant rs7702892dbSNPEnsembl.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

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.
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

MaxQBiQ9H799.
PaxDbiQ9H799.
PeptideAtlasiQ9H799.
PRIDEiQ9H799.

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.
GeneCardsiC5orf42.
GeneReviewsiC5orf42.
HGNCiHGNC:25801. C5orf42.
HPAiHPA036775.
HPA036776.
MalaCardsiC5orf42.
MIMi277170. phenotype.
614571. gene.
614615. phenotype.
neXtProtiNX_Q9H799.
OpenTargetsiENSG00000197603.
Orphaneti475. Joubert syndrome.
2754. Joubert syndrome with orofaciodigital defect.
65684. Monomelic amyotrophy.
PharmGKBiPA162380188.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG9U. Eukaryota.
ENOG410XTEK. LUCA.
GeneTreeiENSGT00800000124150.
HOGENOMiHOG000155525.
HOVERGENiHBG107636.
InParanoidiQ9H799.
OMAiCNDINPQ.
OrthoDBiEOG091G05WO.
PhylomeDBiQ9H799.
TreeFamiTF351288.

Enzyme and pathway databases

BioCyciZFISH:G66-31105-MONOMER.

Miscellaneous databases

ChiTaRSiC5orf42. human.
GeneWikiiC5orf42.
GenomeRNAii65250.
PROiQ9H799.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197603.
CleanExiHS_C5orf42.
ExpressionAtlasiQ9H799. baseline and differential.
GenevisibleiQ9H799. HS.

Family and domain databases

InterProiIPR028236. Joubert.
[Graphical view]
PANTHERiPTHR14492. PTHR14492. 1 hit.
PfamiPF15392. Joubert. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCE042_HUMAN
AccessioniPrimary (citable) accession number: Q9H799
Secondary accession number(s): A8MUB7
, B7ZLV7, Q4G174, Q6DK46, Q8N8L4, Q9H5T1, Q9H8T9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: September 5, 2012
Last modified: November 30, 2016
This is version 95 of the entry and version 4 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.