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Q9H799

- CE042_HUMAN

UniProt

Q9H799 - CE042_HUMAN

Protein

Uncharacterized protein C5orf42

Gene

C5orf42

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 75 (01 Oct 2014)
      Sequence version 4 (05 Sep 2012)
      Previous versions | rss
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    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

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei592 – 61221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei631 – 65121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili2457 – 248731Sequence AnalysisAdd
    BLAST
    Coiled coili2691 – 272434Sequence AnalysisAdd
    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1788 – 17881L → S in AAI44070. (PubMed:15372022)Curated
    Sequence conflicti1788 – 17881L → S in AAI50595. (PubMed:15372022)Curated
    Sequence conflicti2325 – 23251N → D in BAB14999. (PubMed:15489334)Curated
    Sequence conflicti2612 – 26121P → L in BAC04822. (PubMed:15489334)Curated
    Sequence conflicti2767 – 27671V → A in BAC04822. (PubMed:15489334)Curated
    Sequence conflicti2786 – 27861E → G in BAB15539. (PubMed:15489334)Curated
    Sequence conflicti2810 – 28112VS → CQ in AAH74774. (PubMed:15372022)Curated
    Sequence conflicti2828 – 28281S → R in BAB15539. (PubMed:15489334)Curated
    Sequence conflicti2831 – 28311L → W in BAB15539. (PubMed:15489334)Curated

    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. 1 PublicationVSP_044052
    Alternative sequencei2652 – 26521Q → QEVTPACLDGKSLRAGITEV KEPSVTSPTPSDIQQNK in isoform 2. 1 PublicationVSP_044053
    Alternative sequencei2877 – 28793RIQ → SFT in isoform 2. 1 PublicationVSP_044054
    Alternative sequencei2880 – 3197318Missing in isoform 2. 1 PublicationVSP_044055Add
    BLAST

    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

    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: October 1, 2014
    This is version 75 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