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Q4G0J3

- LARP7_HUMAN

UniProt

Q4G0J3 - LARP7_HUMAN

Protein

La-related protein 7

Gene

LARP7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (30 Aug 2005)
      Previous versions | rss
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    Functioni

    Negative transcriptional regulator of polymerase II genes, acting by means of the 7SK RNP system. Within the 7SK RNP complex, the positive transcription elongation factor b (P-TEFb) is sequestered in an inactive form, preventing RNA polymerase II phosphorylation and subsequent transcriptional elongation.2 Publications

    GO - Molecular functioni

    1. nucleotide binding Source: InterPro
    2. poly(A) RNA binding Source: UniProtKB
    3. protein binding Source: IntAct

    GO - Biological processi

    1. RNA processing Source: InterPro

    Keywords - Ligandi

    RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    La-related protein 7
    Alternative name(s):
    La ribonucleoprotein domain family member 7
    P-TEFb-interaction protein for 7SK stability
    Short name:
    PIP7S
    Gene namesi
    Name:LARP7
    ORF Names:HDCMA18P
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:24912. LARP7.

    Subcellular locationi

    Nucleusnucleoplasm 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. Golgi apparatus Source: HPA
    3. nucleoplasm Source: UniProtKB-SubCell
    4. nucleus Source: HPA
    5. ribonucleoprotein complex Source: InterPro

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Alazami syndrome (ALAZS) [MIM:615071]: A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi128 – 1281Y → D: Loss of 7SK RNA-binding and marked decrease in 7SK RNP complex formation. 1 Publication

    Keywords - Diseasei

    Dwarfism, Mental retardation

    Organism-specific databases

    MIMi615071. phenotype.
    Orphaneti319671. Microcephalic primordial dwarfism, Alazami type.
    PharmGKBiPA145148525.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 582582La-related protein 7PRO_0000281143Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei257 – 2571Phosphothreonine1 Publication
    Modified residuei258 – 2581Phosphoserine3 Publications
    Modified residuei261 – 2611Phosphoserine3 Publications
    Modified residuei273 – 2731Phosphoserine1 Publication
    Modified residuei337 – 3371Phosphoserine4 Publications
    Modified residuei338 – 3381Phosphothreonine4 Publications

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ4G0J3.
    PaxDbiQ4G0J3.
    PRIDEiQ4G0J3.

    PTM databases

    PhosphoSiteiQ4G0J3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ4G0J3.
    BgeeiQ4G0J3.
    CleanExiHS_LARP7.
    GenevestigatoriQ4G0J3.

    Organism-specific databases

    HPAiHPA017600.
    HPA026842.
    HPA027930.

    Interactioni

    Subunit structurei

    Integral part of the 7SK RNP complex. Specifically binds to the highly conserved 3'-terminal U-rich stretch of 7SK RNA. On stimulation, remains associated with 7SK RNA, whereas P-TEFb is released from the complex.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CDK9P507507EBI-2371923,EBI-1383449
    HEXIM1O949925EBI-2371923,EBI-2832510

    Protein-protein interaction databases

    BioGridi119619. 38 interactions.
    DIPiDIP-47624N.
    IntActiQ4G0J3. 18 interactions.
    MINTiMINT-4540675.
    STRINGi9606.ENSP00000314311.

    Structurei

    3D structure databases

    ProteinModelPortaliQ4G0J3.
    SMRiQ4G0J3. Positions 36-190.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini28 – 12295HTH La-type RNA-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini125 – 20379RRMPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi202 – 368167Lys-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 HTH La-type RNA-binding domain.PROSITE-ProRule annotation
    Contains 1 RRM (RNA recognition motif) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG5193.
    HOGENOMiHOG000113284.
    HOVERGENiHBG081891.
    InParanoidiQ4G0J3.
    KOiK15191.
    OMAiLSKTEWM.
    OrthoDBiEOG72C50R.
    PhylomeDBiQ4G0J3.
    TreeFamiTF314476.

    Family and domain databases

    Gene3Di1.10.10.10. 1 hit.
    3.30.70.330. 2 hits.
    InterProiIPR002344. Lupus_La.
    IPR006630. Lupus_La_RNA-bd.
    IPR012677. Nucleotide-bd_a/b_plait.
    IPR014886. RRM_3.
    IPR000504. RRM_dom.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view]
    PfamiPF05383. La. 1 hit.
    PF00076. RRM_1. 1 hit.
    PF08777. RRM_3. 1 hit.
    [Graphical view]
    PRINTSiPR00302. LUPUSLA.
    SMARTiSM00715. LA. 1 hit.
    SM00360. RRM. 1 hit.
    [Graphical view]
    PROSITEiPS50961. HTH_LA. 1 hit.
    PS50102. RRM. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q4G0J3-1) [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

    METESGNQEK VMEEESTEKK KEVEKKKRSR VKQVLADIAK QVDFWFGDAN    50
    LHKDRFLREQ IEKSRDGYVD ISLLVSFNKM KKLTTDGKLI ARALRSSAVV 100
    ELDLEGTRIR RKKPLGERPK DEDERTVYVE LLPKNVNHSW IERVFGKCGN 150
    VVYISIPHYK STGDPKGFAF VEFETKEQAA KAIEFLNNPP EEAPRKPGIF 200
    PKTVKNKPIP ALRVVEEKKK KKKKKGRMKK EDNIQAKEEN MDTSNTSISK 250
    MKRSRPTSEG SDIESTEPQK QCSKKKKKRD RVEASSLPEV RTGKRKRSSS 300
    EDAESLAPRS KVKKIIQKDI IKEASEASKE NRDIEISTEE EKDTGDLKDS 350
    SLLKTKRKHK KKHKERHKMG EEVIPLRVLS KSEWMDLKKE YLALQKASMA 400
    SLKKTISQIK SESEMETDSG VPQNTGMKNE KTANREECRT QEKVNATGPQ 450
    FVSGVIVKII STEPLPGRKQ VRDTLAAISE VLYVDLLEGD TECHARFKTP 500
    EDAQAVINAY TEINKKHCWK LEILSGDHEQ RYWQKILVDR QAKLNQPREK 550
    KRGTEKLITK AEKIRLAKTQ QASKHIRFSE YD 582
    Length:582
    Mass (Da):66,899
    Last modified:August 30, 2005 - v1
    Checksum:i04209B8159A5738C
    GO
    Isoform 2 (identifier: Q4G0J3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-368: Missing.

    Show »
    Length:214
    Mass (Da):24,488
    Checksum:i12A03DED56668BA7
    GO
    Isoform 3 (identifier: Q4G0J3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MIPNIEGM

    Show »
    Length:589
    Mass (Da):67,654
    Checksum:iCD532FEBA691906E
    GO

    Sequence cautioni

    The sequence AAH66945.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti295 – 2951R → G in AAI07710. (PubMed:15489334)Curated
    Sequence conflicti516 – 5161K → R in AAF65503. 1 PublicationCurated
    Sequence conflicti516 – 5161K → R in CAB43230. (PubMed:17974005)Curated
    Sequence conflicti560 – 5601K → Q in CAB43230. (PubMed:17974005)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 368368Missing in isoform 2. 1 PublicationVSP_024021Add
    BLAST
    Alternative sequencei1 – 11M → MIPNIEGM in isoform 3. 2 PublicationsVSP_047390

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EU667388 mRNA. Translation: ACD13786.1.
    AF068284 mRNA. Translation: AAF65503.1.
    AC106864 Genomic DNA. No translation available.
    CH471057 Genomic DNA. Translation: EAX06284.1.
    BC066945 mRNA. Translation: AAH66945.1. Different initiation.
    BC107709 mRNA. Translation: AAI07710.2.
    AL049996 mRNA. Translation: CAB43230.1.
    CCDSiCCDS3701.2. [Q4G0J3-1]
    CCDS58924.1. [Q4G0J3-3]
    PIRiT08692.
    RefSeqiNP_001253968.1. NM_001267039.1. [Q4G0J3-3]
    NP_056269.1. NM_015454.2. [Q4G0J3-1]
    NP_057732.2. NM_016648.3. [Q4G0J3-1]
    UniGeneiHs.713663.

    Genome annotation databases

    EnsembliENST00000324052; ENSP00000314311; ENSG00000174720. [Q4G0J3-1]
    ENST00000344442; ENSP00000344950; ENSG00000174720. [Q4G0J3-1]
    ENST00000509061; ENSP00000422626; ENSG00000174720. [Q4G0J3-3]
    GeneIDi51574.
    KEGGihsa:51574.
    UCSCiuc003iay.4. human. [Q4G0J3-1]

    Polymorphism databases

    DMDMi121945944.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EU667388 mRNA. Translation: ACD13786.1 .
    AF068284 mRNA. Translation: AAF65503.1 .
    AC106864 Genomic DNA. No translation available.
    CH471057 Genomic DNA. Translation: EAX06284.1 .
    BC066945 mRNA. Translation: AAH66945.1 . Different initiation.
    BC107709 mRNA. Translation: AAI07710.2 .
    AL049996 mRNA. Translation: CAB43230.1 .
    CCDSi CCDS3701.2. [Q4G0J3-1 ]
    CCDS58924.1. [Q4G0J3-3 ]
    PIRi T08692.
    RefSeqi NP_001253968.1. NM_001267039.1. [Q4G0J3-3 ]
    NP_056269.1. NM_015454.2. [Q4G0J3-1 ]
    NP_057732.2. NM_016648.3. [Q4G0J3-1 ]
    UniGenei Hs.713663.

    3D structure databases

    ProteinModelPortali Q4G0J3.
    SMRi Q4G0J3. Positions 36-190.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119619. 38 interactions.
    DIPi DIP-47624N.
    IntActi Q4G0J3. 18 interactions.
    MINTi MINT-4540675.
    STRINGi 9606.ENSP00000314311.

    PTM databases

    PhosphoSitei Q4G0J3.

    Polymorphism databases

    DMDMi 121945944.

    Proteomic databases

    MaxQBi Q4G0J3.
    PaxDbi Q4G0J3.
    PRIDEi Q4G0J3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000324052 ; ENSP00000314311 ; ENSG00000174720 . [Q4G0J3-1 ]
    ENST00000344442 ; ENSP00000344950 ; ENSG00000174720 . [Q4G0J3-1 ]
    ENST00000509061 ; ENSP00000422626 ; ENSG00000174720 . [Q4G0J3-3 ]
    GeneIDi 51574.
    KEGGi hsa:51574.
    UCSCi uc003iay.4. human. [Q4G0J3-1 ]

    Organism-specific databases

    CTDi 51574.
    GeneCardsi GC04P113559.
    HGNCi HGNC:24912. LARP7.
    HPAi HPA017600.
    HPA026842.
    HPA027930.
    MIMi 612026. gene.
    615071. phenotype.
    neXtProti NX_Q4G0J3.
    Orphaneti 319671. Microcephalic primordial dwarfism, Alazami type.
    PharmGKBi PA145148525.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5193.
    HOGENOMi HOG000113284.
    HOVERGENi HBG081891.
    InParanoidi Q4G0J3.
    KOi K15191.
    OMAi LSKTEWM.
    OrthoDBi EOG72C50R.
    PhylomeDBi Q4G0J3.
    TreeFami TF314476.

    Miscellaneous databases

    ChiTaRSi LARP7. human.
    GenomeRNAii 51574.
    NextBioi 55403.
    PROi Q4G0J3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q4G0J3.
    Bgeei Q4G0J3.
    CleanExi HS_LARP7.
    Genevestigatori Q4G0J3.

    Family and domain databases

    Gene3Di 1.10.10.10. 1 hit.
    3.30.70.330. 2 hits.
    InterProi IPR002344. Lupus_La.
    IPR006630. Lupus_La_RNA-bd.
    IPR012677. Nucleotide-bd_a/b_plait.
    IPR014886. RRM_3.
    IPR000504. RRM_dom.
    IPR011991. WHTH_DNA-bd_dom.
    [Graphical view ]
    Pfami PF05383. La. 1 hit.
    PF00076. RRM_1. 1 hit.
    PF08777. RRM_3. 1 hit.
    [Graphical view ]
    PRINTSi PR00302. LUPUSLA.
    SMARTi SM00715. LA. 1 hit.
    SM00360. RRM. 1 hit.
    [Graphical view ]
    PROSITEi PS50961. HTH_LA. 1 hit.
    PS50102. RRM. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The La-related protein LARP7 is a component of the 7SK ribonucleoprotein and affects transcription of cellular and viral polymerase II genes."
      Markert A., Grimm M., Martinez J., Wiesner J., Meyerhans A., Meyuhas O., Sickmann A., Fischer U.
      EMBO Rep. 9:569-575(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE 7SK SNRNP COMPLEX.
    2. "A novel gene from human dendritic cell."
      Zhao Z., Huang X., Li N., Zhu X., Cao X.
      Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Dendritic cell.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [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 3).
      Tissue: Testis.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 293-582 (ISOFORM 1).
      Tissue: Fetal brain.
    7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "A La-related protein modulates 7SK snRNP integrity to suppress P-TEFb-dependent transcriptional elongation and tumorigenesis."
      He N., Jahchan N.S., Hong E., Li Q., Bayfield M.A., Maraia R.J., Luo K., Zhou Q.
      Mol. Cell 29:588-599(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, MUTAGENESIS OF TYR-128.
    9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-257; SER-258; SER-261; SER-273; SER-337 AND THR-338, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography."
      Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J.
      Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Liver.
    11. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-337 AND THR-338, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    14. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-258; SER-261; SER-337 AND THR-338, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    16. Cited for: INVOLVEMENT IN ALAZS.
    17. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-258; SER-261; SER-337 AND THR-338, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    18. "Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism."
      Alazami A.M., Al-Owain M., Alzahrani F., Shuaib T., Al-Shamrani H., Al-Falki Y.H., Al-Qahtani S.M., Alsheddi T., Colak D., Alkuraya F.S.
      Hum. Mutat. 33:1429-1434(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ALAZS.
    19. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiLARP7_HUMAN
    AccessioniPrimary (citable) accession number: Q4G0J3
    Secondary accession number(s): B2ZHN6
    , Q3B7A9, Q9P1S7, Q9Y3Z8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: August 30, 2005
    Last modified: October 1, 2014
    This is version 99 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 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3