Q9H799 (CE042_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Uncharacterized protein C5orf42

Gene names

Name:

C5orf42

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	3197 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Disease mutation Joubert syndrome
Domain	Coiled coil Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 3197	3197	Uncharacterized protein C5orf42		PRO_0000332133
Regions
	Transmembrane	592 – 612	21	Helical; Potential
	Transmembrane	631 – 651	21	Helical; Potential
	Coiled coil	2457 – 2487	31	Potential
	Coiled coil	2691 – 2724	34	Potential
Natural variations
	Alternative sequence	2604	1	L → LVGHTYINVIDIEANDLLQ in isoform 2.		VSP_044052
	Alternative sequence	2652	1	Q → QEVTPACLDGKSLRAGITEV KEPSVTSPTPSDIQQNK in isoform 2.		VSP_044053
	Alternative sequence	2877 – 2879	3	RIQ → SFT in isoform 2.		VSP_044054
	Alternative sequence	2880 – 3197	318	Missing in isoform 2.		VSP_044055
	Natural variant	1336	1	R → W in JBTS17. Ref.5		VAR_068165
	Natural variant	1437	1	I → T. Corresponds to variant rs6859950 [ dbSNP | Ensembl ].		VAR_042948
	Natural variant	1794	1	P → L May be associated with susceptibility to monomelic amyotrophy. Ref.2 Ref.6 Corresponds to variant rs75589774 [ dbSNP | Ensembl ].		VAR_068166
	Natural variant	2033	1	F → C. Ref.2 Corresponds to variant rs10076911 [ dbSNP | Ensembl ].		VAR_042949
	Natural variant	2033	1	F → S. Corresponds to variant rs10076911 [ dbSNP | Ensembl ].		VAR_068167
	Natural variant	2143	1	I → V. Corresponds to variant rs6884652 [ dbSNP | Ensembl ].		VAR_042950
	Natural variant	2592	1	P → L. Corresponds to variant rs16903518 [ dbSNP | Ensembl ].		VAR_042951
	Natural variant	3062	1	G → R. Corresponds to variant rs7702892 [ dbSNP | Ensembl ].		VAR_042952
Isoform 2:
	Natural variant	2684	1	A → T in JBTS17.
Experimental info
	Sequence conflict	1788	1	L → S in AAI44070. Ref.1
	Sequence conflict	1788	1	L → S in AAI50595. Ref.1
	Sequence conflict	2325	1	N → D in BAB14999. Ref.2
	Sequence conflict	2612	1	P → L in BAC04822. Ref.2
	Sequence conflict	2767	1	V → A in BAC04822. Ref.2
	Sequence conflict	2786	1	E → G in BAB15539. Ref.2
	Sequence conflict	2810 – 2811	2	VS → CQ in AAH74774. Ref.1
	Sequence conflict	2828	1	S → R in BAB15539. Ref.2
	Sequence conflict	2831	1	L → W in BAB15539. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 5, 2012. Version 4. Checksum: D84DFC20FE309992	FASTA	3,197	361,746
	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
	Isoform 2 [UniParc]. Checksum: 59BA501F007B72CC	FASTA	2,933	331,433
	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 VTNLVGHTYI NVIDIEANDL LQELPVREEP SNDNVIKQQS 2650 2660 2670 2680 2690 2700 DHLAVPSSAE LHYMAASVTN AVPPHNFKSQ EVTPACLDGK SLRAGITEVK EPSVTSPTPS 2710 2720 2730 2740 2750 2760 DIQQNKGLPK PEFRFKGQST KSDSAEDYLL WKRLQGVSAA CPAPSSAAHQ LEHLSAKLQK 2770 2780 2790 2800 2810 2820 IDEQLLAIQN IAENIEQDFP KPEMLDLHCD KIGPVDHIEF SSGPEFKKTL ASKTISISEE 2830 2840 2850 2860 2870 2880 VRFLTHMDEE DQSDKKETSE PEFSITENYS GQKTCVFPTA DSAVSLSSSS DQNTTSPGMN 2890 2900 2910 2920 2930 SSDELCESVS VHPLQMTGLT DIADIIDDLI IKDGVSSEEL GLTEQAMGTS SFT

References

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[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. , 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. , 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.

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.
IPI	IPI00011986. IPI00395010. IPI00890819. IPI01026574.
RefSeq	NP_075561.3. NM_023073.3.
UniGene	Hs.586199.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H799. 2 interactions.
STRING	9606.ENSP00000274258.
Polymorphism databases
DMDM	296439411.
Proteomic databases
PaxDb	Q9H799.
PRIDE	Q9H799.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000425232; ENSP00000389014; ENSG00000197603. ENST00000508244; ENSP00000421690; ENSG00000197603.
GeneID	65250.
KEGG	hsa:65250.
UCSC	uc003jko.1. human. uc011coy.1. human.
Organism-specific databases
CTD	65250.
GeneCards	GC05M037144.
HGNC	HGNC:25801. C5orf42.
HPA	HPA036775.
MIM	614571. gene. 614615. phenotype.
neXtProt	NX_Q9H799.
Orphanet	475. Joubert syndrome.
PharmGKB	PA162380188.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG132669.
HOGENOM	HOG000170536.
HOVERGEN	HBG107636.
InParanoid	Q9H799.
OMA	CNDINPQ.
Gene expression databases
ArrayExpress	Q9H799.
Bgee	Q9H799.
CleanEx	HS_C5orf42.
Genevestigator	Q9H799.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	C5orf42. human.
GenomeRNAi	65250.
NextBio	67371.
SOURCE	Search...

Entry information

Entry name

CE042_HUMAN

Accession

Primary (citable) accession number: Q9H799
Secondary accession number(s): A8MUB7 , B7ZLV7, Q4G174, Q6DK46, Q8N8L4, Q9H5T1, Q9H8T9

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 29, 2008
Last sequence update:	September 5, 2012
Last modified:	May 1, 2013
This is version 63 of the entry and version 4 of the sequence. [Complete history]

Entry status

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.