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Q96LP6

- CL042_HUMAN

UniProt

Q96LP6 - CL042_HUMAN

Protein

Uncharacterized protein C12orf42

Gene

C12orf42

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 69 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Uncharacterized protein C12orf42
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:24729. C12orf42.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA143485372.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 360360Uncharacterized protein C12orf42PRO_0000274274Add
    BLAST

    Proteomic databases

    PaxDbiQ96LP6.
    PRIDEiQ96LP6.

    PTM databases

    PhosphoSiteiQ96LP6.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96LP6.
    BgeeiQ96LP6.
    CleanExiHS_C12orf42.
    GenevestigatoriQ96LP6.

    Organism-specific databases

    HPAiHPA039909.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96LP6.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG39516.
    HOGENOMiHOG000169664.
    HOVERGENiHBG081237.
    InParanoidiQ96LP6.
    OMAiNLSEMIF.
    OrthoDBiEOG71VSTB.
    PhylomeDBiQ96LP6.
    TreeFamiTF338230.

    Family and domain databases

    InterProiIPR029288. DUF4607.
    [Graphical view]
    PfamiPF15380. DUF4607. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96LP6-1) [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

    MSTVICMKQR EEEFLLTIRP FANRMQKSPC YIPIVSSATL WDRSTPSAKH    50
    IPCYERTSVP CSRFINHMKN FSESPKFRSL HFLNFPVFPE RTQNSMACKR 100
    LLHTCQYIVP RCSVSTVSFD EESYEEFRSS PAPSSETDEA PLIFTARGET 150
    EERARGAPKQ AWNSSFLEQL VKKPNWAHSV NPVHLEAQGI HISRHTRPKG 200
    QPLSSPKKNS GSAARPSTAI GLCRRSQTPG ALQSTGPSNT ELEPEERMAV 250
    PAGAQAHPDD IQSRLLGASG NPVGKGAVAM APEMLPKHPH TPRDRRPQAD 300
    TSLHGNLAGA PLPLLAGAST HFPSKRLIKV CSSAPPRPTR RFHTVCSQAL 350
    SRPVVNAHLH 360
    Length:360
    Mass (Da):39,738
    Last modified:May 18, 2010 - v2
    Checksum:i1935263A48633526
    GO
    Isoform 2 (identifier: Q96LP6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-95: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:265
    Mass (Da):28,584
    Checksum:iD5B354AAD1F5D448
    GO
    Isoform 3 (identifier: Q96LP6-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         87-107: VFPERTQNSMACKRLLHTCQY → GSHHGQATQKLQGAMVLHLEE
         108-360: Missing.

    Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:107
    Mass (Da):12,366
    Checksum:i544BEC0EA49969F5
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti38 – 381A → D in BC039352. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti11 – 111E → D.2 Publications
    Corresponds to variant rs10778257 [ dbSNP | Ensembl ].
    VAR_030229
    Natural varianti182 – 1821P → R.
    Corresponds to variant rs7484376 [ dbSNP | Ensembl ].
    VAR_030230

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9595Missing in isoform 2. 1 PublicationVSP_022691Add
    BLAST
    Alternative sequencei87 – 10721VFPER…HTCQY → GSHHGQATQKLQGAMVLHLE E in isoform 3. 1 PublicationVSP_022692Add
    BLAST
    Alternative sequencei108 – 360253Missing in isoform 3. 1 PublicationVSP_022693Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK058052 mRNA. Translation: BAB71641.1.
    AC084364 Genomic DNA. No translation available.
    AC090000 Genomic DNA. No translation available.
    AC126176 Genomic DNA. No translation available.
    BC039352 mRNA. No translation available.
    BC044617 mRNA. Translation: AAH44617.1.
    BC117392 mRNA. Translation: AAI17393.1.
    BC117394 mRNA. Translation: AAI17395.1.
    CCDSiCCDS44963.1. [Q96LP6-1]
    RefSeqiNP_001092806.1. NM_001099336.2. [Q96LP6-1]
    NP_001265348.1. NM_001278419.1. [Q96LP6-2]
    NP_001265349.1. NM_001278420.1. [Q96LP6-2]
    NP_940923.2. NM_198521.3. [Q96LP6-1]
    XP_006719443.1. XM_006719380.1. [Q96LP6-2]
    UniGeneiHs.534649.

    Genome annotation databases

    EnsembliENST00000378113; ENSP00000367353; ENSG00000179088. [Q96LP6-1]
    ENST00000547347; ENSP00000446908; ENSG00000179088. [Q96LP6-3]
    ENST00000548883; ENSP00000447908; ENSG00000179088. [Q96LP6-1]
    GeneIDi374470.
    KEGGihsa:374470.
    UCSCiuc001tjt.2. human. [Q96LP6-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK058052 mRNA. Translation: BAB71641.1 .
    AC084364 Genomic DNA. No translation available.
    AC090000 Genomic DNA. No translation available.
    AC126176 Genomic DNA. No translation available.
    BC039352 mRNA. No translation available.
    BC044617 mRNA. Translation: AAH44617.1 .
    BC117392 mRNA. Translation: AAI17393.1 .
    BC117394 mRNA. Translation: AAI17395.1 .
    CCDSi CCDS44963.1. [Q96LP6-1 ]
    RefSeqi NP_001092806.1. NM_001099336.2. [Q96LP6-1 ]
    NP_001265348.1. NM_001278419.1. [Q96LP6-2 ]
    NP_001265349.1. NM_001278420.1. [Q96LP6-2 ]
    NP_940923.2. NM_198521.3. [Q96LP6-1 ]
    XP_006719443.1. XM_006719380.1. [Q96LP6-2 ]
    UniGenei Hs.534649.

    3D structure databases

    ProteinModelPortali Q96LP6.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q96LP6.

    Proteomic databases

    PaxDbi Q96LP6.
    PRIDEi Q96LP6.

    Protocols and materials databases

    DNASUi 374470.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378113 ; ENSP00000367353 ; ENSG00000179088 . [Q96LP6-1 ]
    ENST00000547347 ; ENSP00000446908 ; ENSG00000179088 . [Q96LP6-3 ]
    ENST00000548883 ; ENSP00000447908 ; ENSG00000179088 . [Q96LP6-1 ]
    GeneIDi 374470.
    KEGGi hsa:374470.
    UCSCi uc001tjt.2. human. [Q96LP6-1 ]

    Organism-specific databases

    CTDi 374470.
    GeneCardsi GC12M103631.
    HGNCi HGNC:24729. C12orf42.
    HPAi HPA039909.
    neXtProti NX_Q96LP6.
    PharmGKBi PA143485372.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39516.
    HOGENOMi HOG000169664.
    HOVERGENi HBG081237.
    InParanoidi Q96LP6.
    OMAi NLSEMIF.
    OrthoDBi EOG71VSTB.
    PhylomeDBi Q96LP6.
    TreeFami TF338230.

    Miscellaneous databases

    GenomeRNAii 374470.
    NextBioi 100205.

    Gene expression databases

    ArrayExpressi Q96LP6.
    Bgeei Q96LP6.
    CleanExi HS_C12orf42.
    Genevestigatori Q96LP6.

    Family and domain databases

    InterProi IPR029288. DUF4607.
    [Graphical view ]
    Pfami PF15380. DUF4607. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORM 1), VARIANT ASP-11.
      Tissue: Testis.
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] (ISOFORMS 1; 2 AND 3), VARIANT ASP-11.
      Tissue: Testis.

    Entry informationi

    Entry nameiCL042_HUMAN
    AccessioniPrimary (citable) accession number: Q96LP6
    Secondary accession number(s): Q49A64, Q4G0S2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 6, 2007
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 69 of the entry and version 2 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 12
      Human chromosome 12: 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

    External Data

    Dasty 3