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Q9H799

- CE042_HUMAN

UniProt

Q9H799 - CE042_HUMAN

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Protein

Uncharacterized protein C5orf42

Gene
C5orf42
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C5orf42
Gene namesi
Name:C5orf42
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:25801. C5orf42.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei592 – 61221Helical; Reviewed predictionAdd
BLAST
Transmembranei631 – 65121Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1336 – 13361R → W in JBTS17. 1 Publication
VAR_068165
Isoform 2 (identifier: Q9H799-5)
Natural varianti2684 – 26841A → T in JBTS17.

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

MIMi614615. phenotype.
Orphaneti475. Joubert syndrome.
65684. Monomelic amyotrophy.
PharmGKBiPA162380188.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 31973197Uncharacterized protein C5orf42PRO_0000332133Add
BLAST

Proteomic databases

MaxQBiQ9H799.
PaxDbiQ9H799.
PRIDEiQ9H799.

Expressioni

Gene expression databases

ArrayExpressiQ9H799.
BgeeiQ9H799.
CleanExiHS_C5orf42.
GenevestigatoriQ9H799.

Organism-specific databases

HPAiHPA036775.
HPA036776.

Interactioni

Protein-protein interaction databases

IntActiQ9H799. 2 interactions.
STRINGi9606.ENSP00000274258.

Structurei

3D structure databases

ProteinModelPortaliQ9H799.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili2457 – 248731 Reviewed predictionAdd
BLAST
Coiled coili2691 – 272434 Reviewed predictionAdd
BLAST

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG132669.
HOGENOMiHOG000170536.
HOVERGENiHBG107636.
InParanoidiQ9H799.
OMAiCNDINPQ.
OrthoDBiEOG7X6KZ6.
PhylomeDBiQ9H799.
TreeFamiTF351288.

Family and domain databases

InterProiIPR028236. Joubert.
IPR017986. WD40_repeat_dom.
[Graphical view]
PANTHERiPTHR14492. PTHR14492. 1 hit.
PfamiPF15392. Joubert. 1 hit.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MEIRLEILTS TGIKQKKPWP RVSWLGKEKE AVFLLDDKFI NEINLLSGKI     50
KKKIPSLQPF LKDVIVLTTS SNDAWLAGVL TTGELFLWNK DQDCLKTIPI 100
TEKPKEMIKA TVASSLRLYL YVSGNGKRIV LITPSGCIFL WEYLELKNIL 150
SSKSLSLAGR WSQVIPEEAV LLPSTEDKEA VVNAVFIKNE LFGDCCLCSF 200
TFYSGECLKL TFLAIRWHEN VFTSVRSLPY HVHWAQQDCH LCSLIPKCES 250
VKSRGALISA FSRDGLTLAV TLNQKDPKAT QVLFINTLNF VTLCGSLKGC 300
SNKSPVVPAT LIRSYWVGDI SWTHDSLFLA CMLKRGSLVL LTCQGELLTL 350
ITFGCSIEFG PAEFIPLHPL ITYRPQQFTF QDSNNSVDSS ASDSDPMRQR 400
FSIKAHSRLP YLVISDGYMV TTLRFLDSLS PSVHMRSLLL DSTQRLEKIY 450
QSVILSKPKG KGLNLRSLNS LRSSLLEHQG NESSADFTVP KFLQAEETIN 500
ENAADFQDFE AEETNEGRHF PDNLCPFWNK RDDVLCSSMK EGRLEFASMF 550
DTIHAKDDSE ETDRTITELH SIQKSLLAAW TIGISKTVTE KNLMLNYIVV 600
CITHFFYILQ FIKCPFPKLD LVLSKSSRHN AWILCIFQLF HQCLSIHYWD 650
IRYKQDVGHL IKLTSNTVKL LLTQQQKGQL FSEKLLACFY LLKMVADNLN 700
GVYILQPEVI SASADGSKIT AQDSLVVPIF QMFQDSGFQK NWSWNSFFKI 750
HPQVVNPVQQ PGHRLLILWR ILYKKTLWYQ AQLNRRVPEA DSQLTEKMTH 800
EASTVKSLLC HLQANLQSTG DCLNQTLELK SINGEECFLL GSYEKSVQLW 850
KKALQEIEEK GGRRTYFLQI RYYLSLLYCH LYSYNLNDAQ GLCDQLAREI 900
LRWSQLPVKE NKDFSGAAKS HFECGMVGGV HPEAAVRVVQ SMARFMAAYF 950
TNQQLCILPP HHVNVLPPLH IKTEQSFRLI PLQHSKVASV VRDQNLSNVW 1000
TVEYALELLF IGGLVPEAVW LAYKLGDWKT SVSIGVAFQL FCKRDSNFMR 1050
SKKKSLNLPL RMTPAQIFQE KLQCVLGQPA SLEAKNEMGS KYKQFTDPIE 1100
EEDANLLFGS VQEVLKASVM ADADILSETF QLLIDSAKDF SKRLWGLVPF 1150
GLYLPAPPLY CPQPAILSEE DGDDLLLKAE KNNRQKVSGI LQRVLLLFRA 1200
AQCSFPVAQW YILQLRWARK VMQKIRMKGS LPSLSPFPQS LLNYCKGGIA 1250
FFRPGAAGDH KLDEVSIRAI GCFRELCALC WMLHVRDKLS YSCRQYQKAR 1300
ENVKGEKDLE VEFDSCMIEH CLSAVEWAYR MLPFSRFFNM EELIQDIILS 1350
LIGELPPIRK VAEIFVKAFP YPEDVRVPLR DKYHSLHQRL RHCVVKGPQT 1400
EEMMSVVMHS IQKVRVKALK RVQRNIGSFE VNIWEPIEEE KPDEAPGVDR 1450
YSLGTSLSRS TLTELGDSVV HSDADTFSEA LSVEEKSRIN IYQRNAPNHM 1500
ELTSIHKPTD KRKMCNQKEN PTKKEDHEKL SQNTLPVIGV WEFERDDDEY 1550
IKFLDLFLSY ILERDLPYSR DADIPFLTSF SGKLREHELN SLLFDVHTTL 1600
KRHQSKTKSQ NVFRAGSCFV VAPESYESEK SSSLNDEYGM HLENQKLSSS 1650
VLVNQGIKPF LQYPSNEVNK NEGMSGLFGL KQRSIYKIQD DTREKCLIQR 1700
SSNHIFWTPK SIKTRRCIFK AIQCNDINPQ EDLPLALNTF GSIGRLLEWM 1750
IRWSNRRLLC DSGITESSSE YSPVIRVKTS TAAILTSLWL LEQPYFATYK 1800
AKNAIIKMVE NRDTGCQIGP NIERESKSDA GGSVAVATPG GTEERNGQNK 1850
SCQNILNRMP TEAKNPDIKE INDDIISITH NTKKEFIDID ENLLEVEAFT 1900
EEEMDMHISD YEEDIEESVG GFRSPSLAIC MMTLPQQLEE EFTEEVQCQR 1950
EEPLETIMEE KSTEQKGMIE AFSHPGHTTP QSMQVDTSSE ISSAQISTYK 2000
EKSSSVPLLI SNGVNVASQP PAPTPQKTQR NEFTAQLPDC SESVRQMLQD 2050
EMFKLVQLQQ INFMSLMQIV GSSFANLPDT QQLVQQSQSV HLGESQESNL 2100
RGCGDVEDSN KNLKERFFIK PQSMGENARE PRKNSPHCHE GTIPSGQNST 2150
GNVQNVPHGS IPLCQLNGQP RKKGPIPSSQ NLPSTSFYPA PAGNTHLYLL 2200
STPSVVQKAP RLIPHAKTFS PGDGFPLLQF KSKQEFQPLF LHTGSIPQVP 2250
FRPLPQPREA WGLSDSFQPA LPQRAAQTTP ASHLNVSQYN TEARKKEVEQ 2300
KTWAETVITE IPNHVNLDQY VGQENLTPQQ DSSVFIKPEK LFDVKPGTLE 2350
ISPHHSFGLP LLYLPLKPPN MFPSTSRASI TVPSTPIQPI AEERKYPRLS 2400
LLHSHLSPEN RCKKTQLIPL ENLIAFKQSQ QKLTHNLFEQ GDAGHLQLLK 2450
VKIEPPEVRQ GKDSKKRQRR RAEKELQEKR CEKLRRKPNV TFRPENSIIN 2500
NDDSEIIKKP KEQQEHCGSH PLDDFDVPFE MLQDDNTSAG LHFMASVKKK 2550
AIGSQDASTN TDPEHEPLTA PQLLVPDVYL NLKLSSEMSE KPWSPSIPHT 2600
VTNLELPVRE EPSNDNVIKQ QSDHLAVPSS AELHYMAASV TNAVPPHNFK 2650
SQGLPKPEFR FKGQSTKSDS AEDYLLWKRL QGVSAACPAP SSAAHQLEHL 2700
SAKLQKIDEQ LLAIQNIAEN IEQDFPKPEM LDLHCDKIGP VDHIEFSSGP 2750
EFKKTLASKT ISISEEVRFL THMDEEDQSD KKETSEPEFS ITENYSGQKT 2800
CVFPTADSAV SLSSSSDQNT TSPGMNSSDE LCESVSVHPL QMTGLTDIAD 2850
IIDDLIIKDG VSSEELGLTE QAMGTSRIQH YSGRHSQRTD KERREIQAWM 2900
KRKRKERMAK YLNELAEKRG QEHDPFCPRS NPLYMTSREI RLRQKMKHEK 2950
DRLLLSEHYS RRISQAYGLM NELLSESVQL PTLPQKPLPN KPSPTQSSSC 3000
QHCPSPRGEN QHGHSFLINR PGKVKYMSKP SYIHKRKSFG QPQGSPWPHG 3050
TATFTIQKKA GGAKAAVRKA TQSPVTFQKG SNAPCHSLQH TKKHGSAGLA 3100
PQTKQVCVEY EREETVVSPW TIPSEIHKIL HESHNSLLQD LSPTEEEEPE 3150
HPFGVGGVDS VSESTGSILS KLDWNAIEDM VASVEDQGLS VHWALDL 3197
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 AAH28410.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence and intronic sequence in 5'.
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: Contaminating sequence. Potential poly-A sequence.
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 BAB14999.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1336 – 13361R → W in JBTS17. 1 Publication
VAR_068165
Natural varianti1437 – 14371I → T.
Corresponds to variant rs6859950 [ dbSNP | Ensembl ].
VAR_042948
Natural varianti1794 – 17941P → L May be associated with susceptibility to monomelic amyotrophy. 2 Publications
Corresponds to variant rs75589774 [ dbSNP | Ensembl ].
VAR_068166
Natural varianti2033 – 20331F → C.1 Publication
Corresponds to variant rs10076911 [ dbSNP | Ensembl ].
VAR_042949
Natural varianti2033 – 20331F → S.
Corresponds to variant rs10076911 [ dbSNP | Ensembl ].
VAR_068167
Natural varianti2143 – 21431I → V.
Corresponds to variant rs6884652 [ dbSNP | Ensembl ].
VAR_042950
Natural varianti2592 – 25921P → L.
Corresponds to variant rs16903518 [ dbSNP | Ensembl ].
VAR_042951
Natural varianti3062 – 30621G → R.
Corresponds to variant rs7702892 [ dbSNP | Ensembl ].
VAR_042952
Isoform 2 (identifier: Q9H799-5)
Natural varianti2684 – 26841A → T in JBTS17.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei2604 – 26041L → LVGHTYINVIDIEANDLLQ in isoform 2. VSP_044052
Alternative sequencei2652 – 26521Q → QEVTPACLDGKSLRAGITEV KEPSVTSPTPSDIQQNK in isoform 2. VSP_044053
Alternative sequencei2877 – 28793RIQ → SFT in isoform 2. VSP_044054
Alternative sequencei2880 – 3197318Missing in isoform 2. VSP_044055Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1788 – 17881L → S in AAI44070. 1 Publication
Sequence conflicti1788 – 17881L → S in AAI50595. 1 Publication
Sequence conflicti2325 – 23251N → D in BAB14999. 1 Publication
Sequence conflicti2612 – 26121P → L in BAC04822. 1 Publication
Sequence conflicti2767 – 27671V → A in BAC04822. 1 Publication
Sequence conflicti2786 – 27861E → G in BAB15539. 1 Publication
Sequence conflicti2810 – 28112VS → CQ in AAH74774. 1 Publication
Sequence conflicti2828 – 28281S → R in BAB15539. 1 Publication
Sequence conflicti2831 – 28311L → W in BAB15539. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Genome annotation databases

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

Polymorphism databases

DMDMi403314397.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.586199.

3D structure databases

ProteinModelPortali Q9H799.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q9H799. 2 interactions.
STRINGi 9606.ENSP00000274258.

Polymorphism databases

DMDMi 403314397.

Proteomic databases

MaxQBi Q9H799.
PaxDbi Q9H799.
PRIDEi Q9H799.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000425232 ; ENSP00000389014 ; ENSG00000197603 . [Q9H799-1 ]
ENST00000508244 ; ENSP00000421690 ; ENSG00000197603 . [Q9H799-1 ]
GeneIDi 65250.
KEGGi hsa:65250.
UCSCi uc011cpa.1. human. [Q9H799-1 ]

Organism-specific databases

CTDi 65250.
GeneCardsi GC05M037144.
GeneReviewsi C5orf42.
HGNCi HGNC:25801. C5orf42.
HPAi HPA036775.
HPA036776.
MIMi 614571. gene.
614615. phenotype.
neXtProti NX_Q9H799.
Orphaneti 475. Joubert syndrome.
65684. Monomelic amyotrophy.
PharmGKBi PA162380188.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG132669.
HOGENOMi HOG000170536.
HOVERGENi HBG107636.
InParanoidi Q9H799.
OMAi CNDINPQ.
OrthoDBi EOG7X6KZ6.
PhylomeDBi Q9H799.
TreeFami TF351288.

Miscellaneous databases

ChiTaRSi C5orf42. human.
GeneWikii C5orf42.
GenomeRNAii 65250.
NextBioi 67371.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H799.
Bgeei Q9H799.
CleanExi HS_C5orf42.
Genevestigatori Q9H799.

Family and domain databases

InterProi IPR028236. Joubert.
IPR017986. WD40_repeat_dom.
[Graphical view ]
PANTHERi PTHR14492. PTHR14492. 1 hit.
Pfami PF15392. Joubert. 1 hit.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: INVOLVEMENT IN JBTS17.
  5. 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.

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: July 9, 2014
This is version 74 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

External Data

Dasty 3

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