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Q9H799 (CE042_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 74. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Uncharacterized protein C5orf42
Gene names
Name:C5orf42
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length3197 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Involvement in disease

Joubert syndrome 17 (JBTS17) [MIM:614615]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.5

Sequence caution

The sequence AAH28410.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence and intronic sequence in 5'.

The sequence AAI44070.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAI50595.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB14513.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB14513.1 differs from that shown. Reason: Contaminating sequence. Potential intronic sequence in 5'.

The sequence BAB14999.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAB14999.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence BAB15539.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAC04822.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCiliopathy
Disease mutation
Joubert syndrome
   DomainCoiled coil
Transmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H799-1)

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.
Isoform 2 (identifier: Q9H799-5)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 31973197Uncharacterized protein C5orf42
PRO_0000332133

Regions

Transmembrane592 – 61221Helical; Potential
Transmembrane631 – 65121Helical; Potential
Coiled coil2457 – 248731 Potential
Coiled coil2691 – 272434 Potential

Natural variations

Alternative sequence26041L → LVGHTYINVIDIEANDLLQ in isoform 2.
VSP_044052
Alternative sequence26521Q → QEVTPACLDGKSLRAGITEV KEPSVTSPTPSDIQQNK in isoform 2.
VSP_044053
Alternative sequence2877 – 28793RIQ → SFT in isoform 2.
VSP_044054
Alternative sequence2880 – 3197318Missing in isoform 2.
VSP_044055
Natural variant13361R → W in JBTS17. Ref.5
VAR_068165
Natural variant14371I → T.
Corresponds to variant rs6859950 [ dbSNP | Ensembl ].
VAR_042948
Natural variant17941P → L May be associated with susceptibility to monomelic amyotrophy. Ref.2 Ref.6
Corresponds to variant rs75589774 [ dbSNP | Ensembl ].
VAR_068166
Natural variant20331F → C. Ref.2
Corresponds to variant rs10076911 [ dbSNP | Ensembl ].
VAR_042949
Natural variant20331F → S.
Corresponds to variant rs10076911 [ dbSNP | Ensembl ].
VAR_068167
Natural variant21431I → V.
Corresponds to variant rs6884652 [ dbSNP | Ensembl ].
VAR_042950
Natural variant25921P → L.
Corresponds to variant rs16903518 [ dbSNP | Ensembl ].
VAR_042951
Natural variant30621G → R.
Corresponds to variant rs7702892 [ dbSNP | Ensembl ].
VAR_042952
Isoform 2:
Natural variant26841A → T in JBTS17.

Experimental info

Sequence conflict17881L → S in AAI44070. Ref.1
Sequence conflict17881L → S in AAI50595. Ref.1
Sequence conflict23251N → D in BAB14999. Ref.2
Sequence conflict26121P → L in BAC04822. Ref.2
Sequence conflict27671V → A in BAC04822. Ref.2
Sequence conflict27861E → G in BAB15539. Ref.2
Sequence conflict2810 – 28112VS → CQ in AAH74774. Ref.1
Sequence conflict28281S → R in BAB15539. Ref.2
Sequence conflict28311L → W in BAB15539. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 5, 2012. Version 4.
Checksum: D84DFC20FE309992

FASTA3,197361,746
        10         20         30         40         50         60 
MEIRLEILTS TGIKQKKPWP RVSWLGKEKE AVFLLDDKFI NEINLLSGKI KKKIPSLQPF 

        70         80         90        100        110        120 
LKDVIVLTTS SNDAWLAGVL TTGELFLWNK DQDCLKTIPI TEKPKEMIKA TVASSLRLYL 

       130        140        150        160        170        180 
YVSGNGKRIV LITPSGCIFL WEYLELKNIL SSKSLSLAGR WSQVIPEEAV LLPSTEDKEA 

       190        200        210        220        230        240 
VVNAVFIKNE LFGDCCLCSF TFYSGECLKL TFLAIRWHEN VFTSVRSLPY HVHWAQQDCH 

       250        260        270        280        290        300 
LCSLIPKCES VKSRGALISA FSRDGLTLAV TLNQKDPKAT QVLFINTLNF VTLCGSLKGC 

       310        320        330        340        350        360 
SNKSPVVPAT LIRSYWVGDI SWTHDSLFLA CMLKRGSLVL LTCQGELLTL ITFGCSIEFG 

       370        380        390        400        410        420 
PAEFIPLHPL ITYRPQQFTF QDSNNSVDSS ASDSDPMRQR FSIKAHSRLP YLVISDGYMV 

       430        440        450        460        470        480 
TTLRFLDSLS PSVHMRSLLL DSTQRLEKIY QSVILSKPKG KGLNLRSLNS LRSSLLEHQG 

       490        500        510        520        530        540 
NESSADFTVP KFLQAEETIN ENAADFQDFE AEETNEGRHF PDNLCPFWNK RDDVLCSSMK 

       550        560        570        580        590        600 
EGRLEFASMF DTIHAKDDSE ETDRTITELH SIQKSLLAAW TIGISKTVTE KNLMLNYIVV 

       610        620        630        640        650        660 
CITHFFYILQ FIKCPFPKLD LVLSKSSRHN AWILCIFQLF HQCLSIHYWD IRYKQDVGHL 

       670        680        690        700        710        720 
IKLTSNTVKL LLTQQQKGQL FSEKLLACFY LLKMVADNLN GVYILQPEVI SASADGSKIT 

       730        740        750        760        770        780 
AQDSLVVPIF QMFQDSGFQK NWSWNSFFKI HPQVVNPVQQ PGHRLLILWR ILYKKTLWYQ 

       790        800        810        820        830        840 
AQLNRRVPEA DSQLTEKMTH EASTVKSLLC HLQANLQSTG DCLNQTLELK SINGEECFLL 

       850        860        870        880        890        900 
GSYEKSVQLW KKALQEIEEK GGRRTYFLQI RYYLSLLYCH LYSYNLNDAQ GLCDQLAREI 

       910        920        930        940        950        960 
LRWSQLPVKE NKDFSGAAKS HFECGMVGGV HPEAAVRVVQ SMARFMAAYF TNQQLCILPP 

       970        980        990       1000       1010       1020 
HHVNVLPPLH IKTEQSFRLI PLQHSKVASV VRDQNLSNVW TVEYALELLF IGGLVPEAVW 

      1030       1040       1050       1060       1070       1080 
LAYKLGDWKT SVSIGVAFQL FCKRDSNFMR SKKKSLNLPL RMTPAQIFQE KLQCVLGQPA 

      1090       1100       1110       1120       1130       1140 
SLEAKNEMGS KYKQFTDPIE EEDANLLFGS VQEVLKASVM ADADILSETF QLLIDSAKDF 

      1150       1160       1170       1180       1190       1200 
SKRLWGLVPF GLYLPAPPLY CPQPAILSEE DGDDLLLKAE KNNRQKVSGI LQRVLLLFRA 

      1210       1220       1230       1240       1250       1260 
AQCSFPVAQW YILQLRWARK VMQKIRMKGS LPSLSPFPQS LLNYCKGGIA FFRPGAAGDH 

      1270       1280       1290       1300       1310       1320 
KLDEVSIRAI GCFRELCALC WMLHVRDKLS YSCRQYQKAR ENVKGEKDLE VEFDSCMIEH 

      1330       1340       1350       1360       1370       1380 
CLSAVEWAYR MLPFSRFFNM EELIQDIILS LIGELPPIRK VAEIFVKAFP YPEDVRVPLR 

      1390       1400       1410       1420       1430       1440 
DKYHSLHQRL RHCVVKGPQT EEMMSVVMHS IQKVRVKALK RVQRNIGSFE VNIWEPIEEE 

      1450       1460       1470       1480       1490       1500 
KPDEAPGVDR YSLGTSLSRS TLTELGDSVV HSDADTFSEA LSVEEKSRIN IYQRNAPNHM 

      1510       1520       1530       1540       1550       1560 
ELTSIHKPTD KRKMCNQKEN PTKKEDHEKL SQNTLPVIGV WEFERDDDEY IKFLDLFLSY 

      1570       1580       1590       1600       1610       1620 
ILERDLPYSR DADIPFLTSF SGKLREHELN SLLFDVHTTL KRHQSKTKSQ NVFRAGSCFV 

      1630       1640       1650       1660       1670       1680 
VAPESYESEK SSSLNDEYGM HLENQKLSSS VLVNQGIKPF LQYPSNEVNK NEGMSGLFGL 

      1690       1700       1710       1720       1730       1740 
KQRSIYKIQD DTREKCLIQR SSNHIFWTPK SIKTRRCIFK AIQCNDINPQ EDLPLALNTF 

      1750       1760       1770       1780       1790       1800 
GSIGRLLEWM IRWSNRRLLC DSGITESSSE YSPVIRVKTS TAAILTSLWL LEQPYFATYK 

      1810       1820       1830       1840       1850       1860 
AKNAIIKMVE NRDTGCQIGP NIERESKSDA GGSVAVATPG GTEERNGQNK SCQNILNRMP 

      1870       1880       1890       1900       1910       1920 
TEAKNPDIKE INDDIISITH NTKKEFIDID ENLLEVEAFT EEEMDMHISD YEEDIEESVG 

      1930       1940       1950       1960       1970       1980 
GFRSPSLAIC MMTLPQQLEE EFTEEVQCQR EEPLETIMEE KSTEQKGMIE AFSHPGHTTP 

      1990       2000       2010       2020       2030       2040 
QSMQVDTSSE ISSAQISTYK EKSSSVPLLI SNGVNVASQP PAPTPQKTQR NEFTAQLPDC 

      2050       2060       2070       2080       2090       2100 
SESVRQMLQD EMFKLVQLQQ INFMSLMQIV GSSFANLPDT QQLVQQSQSV HLGESQESNL 

      2110       2120       2130       2140       2150       2160 
RGCGDVEDSN KNLKERFFIK PQSMGENARE PRKNSPHCHE GTIPSGQNST GNVQNVPHGS 

      2170       2180       2190       2200       2210       2220 
IPLCQLNGQP RKKGPIPSSQ NLPSTSFYPA PAGNTHLYLL STPSVVQKAP RLIPHAKTFS 

      2230       2240       2250       2260       2270       2280 
PGDGFPLLQF KSKQEFQPLF LHTGSIPQVP FRPLPQPREA WGLSDSFQPA LPQRAAQTTP 

      2290       2300       2310       2320       2330       2340 
ASHLNVSQYN TEARKKEVEQ KTWAETVITE IPNHVNLDQY VGQENLTPQQ DSSVFIKPEK 

      2350       2360       2370       2380       2390       2400 
LFDVKPGTLE ISPHHSFGLP LLYLPLKPPN MFPSTSRASI TVPSTPIQPI AEERKYPRLS 

      2410       2420       2430       2440       2450       2460 
LLHSHLSPEN RCKKTQLIPL ENLIAFKQSQ QKLTHNLFEQ GDAGHLQLLK VKIEPPEVRQ 

      2470       2480       2490       2500       2510       2520 
GKDSKKRQRR RAEKELQEKR CEKLRRKPNV TFRPENSIIN NDDSEIIKKP KEQQEHCGSH 

      2530       2540       2550       2560       2570       2580 
PLDDFDVPFE MLQDDNTSAG LHFMASVKKK AIGSQDASTN TDPEHEPLTA PQLLVPDVYL 

      2590       2600       2610       2620       2630       2640 
NLKLSSEMSE KPWSPSIPHT VTNLELPVRE EPSNDNVIKQ QSDHLAVPSS AELHYMAASV 

      2650       2660       2670       2680       2690       2700 
TNAVPPHNFK SQGLPKPEFR FKGQSTKSDS AEDYLLWKRL QGVSAACPAP SSAAHQLEHL 

      2710       2720       2730       2740       2750       2760 
SAKLQKIDEQ LLAIQNIAEN IEQDFPKPEM LDLHCDKIGP VDHIEFSSGP EFKKTLASKT 

      2770       2780       2790       2800       2810       2820 
ISISEEVRFL THMDEEDQSD KKETSEPEFS ITENYSGQKT CVFPTADSAV SLSSSSDQNT 

      2830       2840       2850       2860       2870       2880 
TSPGMNSSDE LCESVSVHPL QMTGLTDIAD IIDDLIIKDG VSSEELGLTE QAMGTSRIQH 

      2890       2900       2910       2920       2930       2940 
YSGRHSQRTD KERREIQAWM KRKRKERMAK YLNELAEKRG QEHDPFCPRS NPLYMTSREI 

      2950       2960       2970       2980       2990       3000 
RLRQKMKHEK DRLLLSEHYS RRISQAYGLM NELLSESVQL PTLPQKPLPN KPSPTQSSSC 

      3010       3020       3030       3040       3050       3060 
QHCPSPRGEN QHGHSFLINR PGKVKYMSKP SYIHKRKSFG QPQGSPWPHG TATFTIQKKA 

      3070       3080       3090       3100       3110       3120 
GGAKAAVRKA TQSPVTFQKG SNAPCHSLQH TKKHGSAGLA PQTKQVCVEY EREETVVSPW 

      3130       3140       3150       3160       3170       3180 
TIPSEIHKIL HESHNSLLQD LSPTEEEEPE HPFGVGGVDS VSESTGSILS KLDWNAIEDM 

      3190 
VASVEDQGLS VHWALDL 

« Hide

Isoform 2 [UniParc].

Checksum: 59BA501F007B72CC
Show »

FASTA2,933331,433

References

« Hide 'large scale' references
[1]"The DNA sequence and comparative analysis of human chromosome 5."
Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. expand/collapse author list , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"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 953-3197 (ISOFORM 1), VARIANTS LEU-1794 AND CYS-2033.
Tissue: Cerebellum, Embryonic brain and Testis.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1871-2391 (ISOFORMS 1/2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2561-2879 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2781-3197 (ISOFORM 1).
Tissue: Brain, Lung and Ovary.
[4]"Mutations in TMEM231 cause Joubert syndrome in French Canadians."
Srour M., Hamdan F.F., Schwartzentruber J.A., Patry L., Ospina L.H., Shevell M.I., Desilets V., Dobrzeniecka S., Mathonnet G., Lemyre E., Massicotte C., Labuda D., Amrom D., Andermann E., Sebire G., Maranda B., Consortium F.C., Rouleau G.A., Majewski J., Michaud J.L.
J. Med. Genet. 49:636-641(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN JBTS17.
[5]"Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population."
Srour M., Schwartzentruber J., Hamdan F.F., Ospina L.H., Patry L., Labuda D., Massicotte C., Dobrzeniecka S., Capo-Chichi J.M., Papillon-Cavanagh S., Samuels M.E., Boycott K.M., Shevell M.I., Laframboise R., Desilets V., Maranda B., Rouleau G.A., Majewski J., Michaud J.L.
Am. J. Hum. Genet. 90:693-700(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT JBTS17 TRP-1336, ALTERNATIVE SPLICING.
[6]"Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy."
Lim Y.M., Koh I., Park Y.M., Kim J.J., Kim D.S., Kim H.J., Baik K.H., Choi H.Y., Yang G.S., Also-Rallo E., Tizzano E.F., Gamez J., Park K., Yoo H.W., Lee J.K., Kim K.K.
Neuromuscul. Disord. 22:394-400(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LEU-1794.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS34146.2. [Q9H799-1]
RefSeqNP_075561.3. NM_023073.3. [Q9H799-1]
UniGeneHs.586199.

3D structure databases

ProteinModelPortalQ9H799.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ9H799. 2 interactions.
STRING9606.ENSP00000274258.

Polymorphism databases

DMDM403314397.

Proteomic databases

MaxQBQ9H799.
PaxDbQ9H799.
PRIDEQ9H799.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000425232; ENSP00000389014; ENSG00000197603. [Q9H799-1]
ENST00000508244; ENSP00000421690; ENSG00000197603. [Q9H799-1]
GeneID65250.
KEGGhsa:65250.
UCSCuc011cpa.1. human. [Q9H799-1]

Organism-specific databases

CTD65250.
GeneCardsGC05M037144.
GeneReviewsC5orf42.
HGNCHGNC:25801. C5orf42.
HPAHPA036775.
HPA036776.
MIM614571. gene.
614615. phenotype.
neXtProtNX_Q9H799.
Orphanet475. Joubert syndrome.
65684. Monomelic amyotrophy.
PharmGKBPA162380188.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG132669.
HOGENOMHOG000170536.
HOVERGENHBG107636.
InParanoidQ9H799.
OMACNDINPQ.
OrthoDBEOG7X6KZ6.
PhylomeDBQ9H799.
TreeFamTF351288.

Gene expression databases

ArrayExpressQ9H799.
BgeeQ9H799.
CleanExHS_C5orf42.
GenevestigatorQ9H799.

Family and domain databases

InterProIPR028236. Joubert.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERPTHR14492. PTHR14492. 1 hit.
PfamPF15392. Joubert. 1 hit.
[Graphical view]
SUPFAMSSF50978. SSF50978. 2 hits.
ProtoNetSearch...

Other

ChiTaRSC5orf42. human.
GeneWikiC5orf42.
GenomeRNAi65250.
NextBio67371.
SOURCESearch...

Entry information

Entry nameCE042_HUMAN
AccessionPrimary (citable) accession number: Q9H799
Secondary accession number(s): A8MUB7 expand/collapse secondary AC list , B7ZLV7, Q4G174, Q6DK46, Q8N8L4, Q9H5T1, Q9H8T9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: September 5, 2012
Last modified: July 9, 2014
This is version 74 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM