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Q9Y2V0

- CO041_HUMAN

UniProt

Q9Y2V0 - CO041_HUMAN

Protein

Uncharacterized protein C15orf41

Gene

C15orf41

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 2 (09 Jan 2007)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Uncharacterized protein C15orf41
    Alternative name(s):
    Protein HH114
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:26929. C15orf41.

    Pathology & Biotechi

    Involvement in diseasei

    Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631]: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti94 – 941Y → C in CDAN1B. 1 Publication
    VAR_070876
    Natural varianti178 – 1781L → Q in CDAN1B. 1 Publication
    VAR_070877

    Keywords - Diseasei

    Congenital dyserythropoietic anemia, Disease mutation, Hereditary hemolytic anemia

    Organism-specific databases

    MIMi615631. phenotype.
    Orphaneti98869. Congenital dyserythropoietic anemia type I.
    PharmGKBiPA142672277.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 281281Uncharacterized protein C15orf41PRO_0000271044Add
    BLAST

    Proteomic databases

    MaxQBiQ9Y2V0.
    PaxDbiQ9Y2V0.
    PRIDEiQ9Y2V0.

    PTM databases

    PhosphoSiteiQ9Y2V0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9Y2V0.
    BgeeiQ9Y2V0.
    CleanExiHS_C15orf41.
    GenevestigatoriQ9Y2V0.

    Organism-specific databases

    HPAiHPA061023.

    Interactioni

    Protein-protein interaction databases

    BioGridi124120. 2 interactions.
    STRINGi9606.ENSP00000401362.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y2V0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG79822.
    HOGENOMiHOG000044476.
    HOVERGENiHBG080425.
    InParanoidiQ9Y2V0.
    OrthoDBiEOG7BS4B2.
    PhylomeDBiQ9Y2V0.
    TreeFamiTF324079.

    Family and domain databases

    InterProiIPR029404. DUF_TPD.
    [Graphical view]
    PfamiPF14811. TPD. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9Y2V0-1) [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

    MILTKAQYDE IAQCLVSVPP TRQSLRKLKQ RFPSQSQATL LSIFSQEYQK    50
    HIKRTHAKHH TSEAIESYYQ RYLNGVVKNG AAPVLLDLAN EVDYAPSLMA 100
    RLILERFLQE HEETPPSKSI INSMLRDPSQ IPDGVLANQV YQCIVNDCCY 150
    GPLVDCIKHA IGHEHEVLLR DLLLEKNLSF LDEDQLRAKG YDKTPDFILQ 200
    VPVAVEGHII HWIESKASFG DECSHHAYLH DQFWSYWNRF GPGLVIYWYG 250
    FIQELDCNRE RGILLKACFP TNIVTLCHSI A 281
    Length:281
    Mass (Da):32,264
    Last modified:January 9, 2007 - v2
    Checksum:i1DB9D466A61FE804
    GO
    Isoform 2 (identifier: Q9Y2V0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-98: Missing.

    Show »
    Length:183
    Mass (Da):21,109
    Checksum:i079603A83982B202
    GO

    Sequence cautioni

    The sequence AAH06254.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti73 – 731L → V.
    Corresponds to variant rs3784678 [ dbSNP | Ensembl ].
    VAR_059622
    Natural varianti94 – 941Y → C in CDAN1B. 1 Publication
    VAR_070876
    Natural varianti178 – 1781L → Q in CDAN1B. 1 Publication
    VAR_070877

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9898Missing in isoform 2. 2 PublicationsVSP_022271Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF114263 mRNA. Translation: AAD29606.1.
    AK315446 mRNA. Translation: BAG37834.1.
    CH471125 Genomic DNA. Translation: EAW92337.1.
    BC006254 mRNA. Translation: AAH06254.1. Different initiation.
    CCDSiCCDS45215.1. [Q9Y2V0-1]
    CCDS45216.1. [Q9Y2V0-2]
    RefSeqiNP_001123482.1. NM_001130010.2. [Q9Y2V0-1]
    NP_001277161.1. NM_001290232.1. [Q9Y2V0-2]
    NP_001277162.1. NM_001290233.1.
    NP_115888.1. NM_032499.5. [Q9Y2V0-2]
    UniGeneiHs.48348.

    Genome annotation databases

    EnsembliENST00000338183; ENSP00000342433; ENSG00000186073. [Q9Y2V0-2]
    ENST00000437989; ENSP00000401362; ENSG00000186073. [Q9Y2V0-1]
    ENST00000562877; ENSP00000457854; ENSG00000186073. [Q9Y2V0-2]
    ENST00000566621; ENSP00000455397; ENSG00000186073. [Q9Y2V0-1]
    ENST00000567389; ENSP00000456736; ENSG00000186073. [Q9Y2V0-2]
    GeneIDi84529.
    KEGGihsa:84529.
    UCSCiuc001zje.4. human. [Q9Y2V0-1]

    Polymorphism databases

    DMDMi122063330.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF114263 mRNA. Translation: AAD29606.1 .
    AK315446 mRNA. Translation: BAG37834.1 .
    CH471125 Genomic DNA. Translation: EAW92337.1 .
    BC006254 mRNA. Translation: AAH06254.1 . Different initiation.
    CCDSi CCDS45215.1. [Q9Y2V0-1 ]
    CCDS45216.1. [Q9Y2V0-2 ]
    RefSeqi NP_001123482.1. NM_001130010.2. [Q9Y2V0-1 ]
    NP_001277161.1. NM_001290232.1. [Q9Y2V0-2 ]
    NP_001277162.1. NM_001290233.1.
    NP_115888.1. NM_032499.5. [Q9Y2V0-2 ]
    UniGenei Hs.48348.

    3D structure databases

    ProteinModelPortali Q9Y2V0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124120. 2 interactions.
    STRINGi 9606.ENSP00000401362.

    PTM databases

    PhosphoSitei Q9Y2V0.

    Polymorphism databases

    DMDMi 122063330.

    Proteomic databases

    MaxQBi Q9Y2V0.
    PaxDbi Q9Y2V0.
    PRIDEi Q9Y2V0.

    Protocols and materials databases

    DNASUi 84529.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000338183 ; ENSP00000342433 ; ENSG00000186073 . [Q9Y2V0-2 ]
    ENST00000437989 ; ENSP00000401362 ; ENSG00000186073 . [Q9Y2V0-1 ]
    ENST00000562877 ; ENSP00000457854 ; ENSG00000186073 . [Q9Y2V0-2 ]
    ENST00000566621 ; ENSP00000455397 ; ENSG00000186073 . [Q9Y2V0-1 ]
    ENST00000567389 ; ENSP00000456736 ; ENSG00000186073 . [Q9Y2V0-2 ]
    GeneIDi 84529.
    KEGGi hsa:84529.
    UCSCi uc001zje.4. human. [Q9Y2V0-1 ]

    Organism-specific databases

    CTDi 84529.
    GeneCardsi GC15P036871.
    HGNCi HGNC:26929. C15orf41.
    HPAi HPA061023.
    MIMi 615626. gene.
    615631. phenotype.
    neXtProti NX_Q9Y2V0.
    Orphaneti 98869. Congenital dyserythropoietic anemia type I.
    PharmGKBi PA142672277.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG79822.
    HOGENOMi HOG000044476.
    HOVERGENi HBG080425.
    InParanoidi Q9Y2V0.
    OrthoDBi EOG7BS4B2.
    PhylomeDBi Q9Y2V0.
    TreeFami TF324079.

    Miscellaneous databases

    GenomeRNAii 84529.
    NextBioi 74367.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y2V0.
    Bgeei Q9Y2V0.
    CleanExi HS_C15orf41.
    Genevestigatori Q9Y2V0.

    Family and domain databases

    InterProi IPR029404. DUF_TPD.
    [Graphical view ]
    Pfami PF14811. TPD. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequence of an unidentified human gene."
      Wei Y.J., Ding J.F., Xiong H., Zhou Y., Liew C.C.
      Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Heart.
    2. "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 2).
      Tissue: Heart.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORM 1).
      Tissue: Ovary.
    5. Cited for: VARIANTS CDAN1B CYS-94 AND GLN-178.

    Entry informationi

    Entry nameiCO041_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y2V0
    Secondary accession number(s): B2RD87
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 9, 2007
    Last sequence update: January 9, 2007
    Last modified: October 1, 2014
    This is version 89 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

    Caution

    Based on sequence similarity, it has been suggested that C15orf41 might encode a divalent metal-ion dependent restriction endonuclease, although nuclease activity could not be experimentally proven.1 Publication

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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