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Q5RL73

- RBM48_HUMAN

UniProt

Q5RL73 - RBM48_HUMAN

Protein

RNA-binding protein 48

Gene

RBM48

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 1 (21 Dec 2004)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. RNA binding Source: UniProtKB-KW

    Keywords - Ligandi

    RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    RNA-binding protein 48
    Gene namesi
    Name:RBM48
    Synonyms:C7orf64
    ORF Names:HSPC304
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:21785. RBM48.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: HPA

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164717383.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 367367RNA-binding protein 48PRO_0000321514Add
    BLAST

    Proteomic databases

    MaxQBiQ5RL73.
    PaxDbiQ5RL73.
    PRIDEiQ5RL73.

    PTM databases

    PhosphoSiteiQ5RL73.

    Expressioni

    Gene expression databases

    ArrayExpressiQ5RL73.
    BgeeiQ5RL73.
    CleanExiHS_C7orf64.
    GenevestigatoriQ5RL73.

    Organism-specific databases

    HPAiHPA021777.
    HPA025306.

    Interactioni

    Protein-protein interaction databases

    BioGridi123855. 48 interactions.
    IntActiQ5RL73. 48 interactions.
    MINTiMINT-3979239.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5RL73.
    SMRiQ5RL73. Positions 45-123.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini46 – 12479RRMAdd
    BLAST

    Sequence similaritiesi

    Belongs to the RBM48 family.Curated

    Phylogenomic databases

    eggNOGiNOG150976.
    HOGENOMiHOG000082399.
    HOVERGENiHBG054270.
    InParanoidiQ5RL73.
    PhylomeDBiQ5RL73.
    TreeFamiTF328457.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5RL73-1) [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

    MASSGGELGS LFDHHVQRAV CDTRAKYREG RRPRAVKVYT INLESQYLLI    50
    QGVPAVGVMK ELVERFALYG AIEQYNALDE YPAEDFTEVY LIKFMNLQSA 100
    RTAKRKMDEQ SFFGGLLHVC YAPEFETVEE TRKKLQMRKA YVVKTTENKD 150
    HYVTKKKLVT EHKDTEDFRQ DFHSEMSGFC KAALNTSAGN SNPYLPYSCE 200
    LPLCYFSSKC MCSSGGPVDR APDSSKDGRN HHKTMGHYNH NDSLRKTQIN 250
    SLKNSVACPG AQKAITSSEA VDRFMPRTTQ LQERKRRRED DRKLGTFLQT 300
    NPTGNEIMIG PLLPDISKVD MHDDSLNTTA NLIRHKLKEV ISSVPKPPED 350
    KPEDVHTSHP LKQRRRI 367
    Length:367
    Mass (Da):41,808
    Last modified:December 21, 2004 - v1
    Checksum:iBD42E7ACCDCE9B96
    GO
    Isoform 2 (identifier: Q5RL73-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         341-367: ISSVPKPPEDKPEDVHTSHPLKQRRRI → RLFLKNYSKTRFGYRIKWRIICGNNSTVIFFHFLVF

    Note: No experimental confirmation available.

    Show »
    Length:376
    Mass (Da):43,147
    Checksum:iFE38159A4272BFCA
    GO

    Sequence cautioni

    The sequence CAB66554.1 differs from that shown. Reason: Frameshift at position 341.
    The sequence AAH33561.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAB70806.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence EAL24148.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti8 – 81L → P in CAB66554. (PubMed:11230166)Curated
    Sequence conflicti229 – 2291R → K in BAB70806. (PubMed:14702039)Curated
    Sequence conflicti359 – 3591H → R in BAB70806. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei341 – 36727ISSVP…QRRRI → RLFLKNYSKTRFGYRIKWRI ICGNNSTVIFFHFLVF in isoform 2. 1 PublicationVSP_056683Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136619 mRNA. Translation: CAB66554.1. Frameshift.
    CR933641 mRNA. Translation: CAI45942.1. Sequence problems.
    AK054777 mRNA. Translation: BAB70806.1. Different initiation.
    AK294812 mRNA. Translation: BAH11891.1.
    AC005156 Genomic DNA. No translation available.
    AC007566 Genomic DNA. No translation available.
    CH471091 Genomic DNA. Translation: EAW76839.1.
    CH236949 Genomic DNA. Translation: EAL24148.1. Sequence problems.
    BC033561 mRNA. Translation: AAH33561.1. Different initiation.
    BC044570 mRNA. Translation: AAH44570.1.
    BC104865 mRNA. Translation: AAI04866.1.
    BC104867 mRNA. Translation: AAI04868.1.
    BC143576 mRNA. Translation: AAI43577.1.
    CCDSiCCDS43615.1.
    RefSeqiNP_115496.2. NM_032120.2.
    XP_005250693.1. XM_005250636.2.
    UniGeneiHs.21590.

    Genome annotation databases

    EnsembliENST00000265732; ENSP00000265732; ENSG00000127993.
    ENST00000481551; ENSP00000419242; ENSG00000127993.
    GeneIDi84060.
    KEGGihsa:84060.
    UCSCiuc003ulz.3. human.

    Polymorphism databases

    DMDMi74736145.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136619 mRNA. Translation: CAB66554.1 . Frameshift.
    CR933641 mRNA. Translation: CAI45942.1 . Sequence problems.
    AK054777 mRNA. Translation: BAB70806.1 . Different initiation.
    AK294812 mRNA. Translation: BAH11891.1 .
    AC005156 Genomic DNA. No translation available.
    AC007566 Genomic DNA. No translation available.
    CH471091 Genomic DNA. Translation: EAW76839.1 .
    CH236949 Genomic DNA. Translation: EAL24148.1 . Sequence problems.
    BC033561 mRNA. Translation: AAH33561.1 . Different initiation.
    BC044570 mRNA. Translation: AAH44570.1 .
    BC104865 mRNA. Translation: AAI04866.1 .
    BC104867 mRNA. Translation: AAI04868.1 .
    BC143576 mRNA. Translation: AAI43577.1 .
    CCDSi CCDS43615.1.
    RefSeqi NP_115496.2. NM_032120.2.
    XP_005250693.1. XM_005250636.2.
    UniGenei Hs.21590.

    3D structure databases

    ProteinModelPortali Q5RL73.
    SMRi Q5RL73. Positions 45-123.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123855. 48 interactions.
    IntActi Q5RL73. 48 interactions.
    MINTi MINT-3979239.

    PTM databases

    PhosphoSitei Q5RL73.

    Polymorphism databases

    DMDMi 74736145.

    Proteomic databases

    MaxQBi Q5RL73.
    PaxDbi Q5RL73.
    PRIDEi Q5RL73.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265732 ; ENSP00000265732 ; ENSG00000127993 .
    ENST00000481551 ; ENSP00000419242 ; ENSG00000127993 .
    GeneIDi 84060.
    KEGGi hsa:84060.
    UCSCi uc003ulz.3. human.

    Organism-specific databases

    CTDi 84060.
    GeneCardsi GC07P092159.
    HGNCi HGNC:21785. RBM48.
    HPAi HPA021777.
    HPA025306.
    neXtProti NX_Q5RL73.
    PharmGKBi PA164717383.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG150976.
    HOGENOMi HOG000082399.
    HOVERGENi HBG054270.
    InParanoidi Q5RL73.
    PhylomeDBi Q5RL73.
    TreeFami TF328457.

    Miscellaneous databases

    ChiTaRSi RBM48. human.
    GenomeRNAii 84060.
    NextBioi 73212.
    PROi Q5RL73.

    Gene expression databases

    ArrayExpressi Q5RL73.
    Bgeei Q5RL73.
    CleanExi HS_C7orf64.
    Genevestigatori Q5RL73.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain and Endometrial adenocarcinoma.
    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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 180-367 (ISOFORM 1).
      Tissue: Brain and Cerebellum.
    3. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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: Brain, Lung and Testis.

    Entry informationi

    Entry nameiRBM48_HUMAN
    AccessioniPrimary (citable) accession number: Q5RL73
    Secondary accession number(s): B7Z2K5
    , B7ZL51, Q5H9T2, Q8IYW7, Q96NS0, Q9H0V7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 26, 2008
    Last sequence update: December 21, 2004
    Last modified: October 1, 2014
    This is version 89 of the entry and version 1 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 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families
    3. Uncharacterized protein families (UPF)
      List of uncharacterized protein family (UPF) entries

    External Data

    Dasty 3