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Q4G0J3 (LARP7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:LARP7
ORF Names:HDCMA18P
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length582 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1 Ref.8

Subunit structure

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. Ref.1

Subcellular location

Nucleusnucleoplasm Ref.1.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16 Ref.18

Sequence similarities

Contains 1 HTH La-type RNA-binding domain.

Contains 1 RRM (RNA recognition motif) domain.

Sequence caution

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

Binary interactions

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q4G0J3-1)

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.
Isoform 2 (identifier: Q4G0J3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-368: Missing.
Isoform 3 (identifier: Q4G0J3-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 582582La-related protein 7
PRO_0000281143

Regions

Domain28 – 12295HTH La-type RNA-binding
Domain125 – 20379RRM
Compositional bias202 – 368167Lys-rich

Amino acid modifications

Modified residue11N-acetylmethionine Ref.19
Modified residue2571Phosphothreonine Ref.9
Modified residue2581Phosphoserine Ref.9 Ref.14 Ref.17
Modified residue2611Phosphoserine Ref.9 Ref.14 Ref.17
Modified residue2731Phosphoserine Ref.9
Modified residue3371Phosphoserine Ref.9 Ref.13 Ref.14 Ref.17
Modified residue3381Phosphothreonine Ref.9 Ref.13 Ref.14 Ref.17

Natural variations

Alternative sequence1 – 368368Missing in isoform 2.
VSP_024021
Alternative sequence11M → MIPNIEGM in isoform 3.
VSP_047390

Experimental info

Mutagenesis1281Y → D: Loss of 7SK RNA-binding and marked decrease in 7SK RNP complex formation. Ref.8
Sequence conflict2951R → G in AAI07710. Ref.5
Sequence conflict5161K → R in AAF65503. Ref.2
Sequence conflict5161K → R in CAB43230. Ref.6
Sequence conflict5601K → Q in CAB43230. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 30, 2005. Version 1.
Checksum: 04209B8159A5738C

FASTA58266,899
        10         20         30         40         50         60 
METESGNQEK VMEEESTEKK KEVEKKKRSR VKQVLADIAK QVDFWFGDAN LHKDRFLREQ 

        70         80         90        100        110        120 
IEKSRDGYVD ISLLVSFNKM KKLTTDGKLI ARALRSSAVV ELDLEGTRIR RKKPLGERPK 

       130        140        150        160        170        180 
DEDERTVYVE LLPKNVNHSW IERVFGKCGN VVYISIPHYK STGDPKGFAF VEFETKEQAA 

       190        200        210        220        230        240 
KAIEFLNNPP EEAPRKPGIF PKTVKNKPIP ALRVVEEKKK KKKKKGRMKK EDNIQAKEEN 

       250        260        270        280        290        300 
MDTSNTSISK MKRSRPTSEG SDIESTEPQK QCSKKKKKRD RVEASSLPEV RTGKRKRSSS 

       310        320        330        340        350        360 
EDAESLAPRS KVKKIIQKDI IKEASEASKE NRDIEISTEE EKDTGDLKDS SLLKTKRKHK 

       370        380        390        400        410        420 
KKHKERHKMG EEVIPLRVLS KSEWMDLKKE YLALQKASMA SLKKTISQIK SESEMETDSG 

       430        440        450        460        470        480 
VPQNTGMKNE KTANREECRT QEKVNATGPQ FVSGVIVKII STEPLPGRKQ VRDTLAAISE 

       490        500        510        520        530        540 
VLYVDLLEGD TECHARFKTP EDAQAVINAY TEINKKHCWK LEILSGDHEQ RYWQKILVDR 

       550        560        570        580 
QAKLNQPREK KRGTEKLITK AEKIRLAKTQ QASKHIRFSE YD 

« Hide

Isoform 2 [UniParc].

Checksum: 12A03DED56668BA7
Show »

FASTA21424,488
Isoform 3 [UniParc].

Checksum: CD532FEBA691906E
Show »

FASTA58967,654

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[16]"Deep sequencing reveals 50 novel genes for recessive cognitive disorders."
Najmabadi H., Hu H., Garshasbi M., Zemojtel T., Abedini S.S., Chen W., Hosseini M., Behjati F., Haas S., Jamali P., Zecha A., Mohseni M., Puettmann L., Vahid L.N., Jensen C., Moheb L.A., Bienek M., Larti F. expand/collapse author list , Mueller I., Weissmann R., Darvish H., Wrogemann K., Hadavi V., Lipkowitz B., Esmaeeli-Nieh S., Wieczorek D., Kariminejad R., Firouzabadi S.G., Cohen M., Fattahi Z., Rost I., Mojahedi F., Hertzberg C., Dehghan A., Rajab A., Banavandi M.J., Hoffer J., Falah M., Musante L., Kalscheuer V., Ullmann R., Kuss A.W., Tzschach A., Kahrizi K., Ropers H.H.
Nature 478:57-63(2011) [PubMed] [Europe PMC] [Abstract]
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]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT08692.
RefSeqNP_001253968.1. NM_001267039.1.
NP_056269.1. NM_015454.2.
NP_057732.2. NM_016648.3.
UniGeneHs.713663.

3D structure databases

ProteinModelPortalQ4G0J3.
SMRQ4G0J3. Positions 36-190.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119619. 34 interactions.
DIPDIP-47624N.
IntActQ4G0J3. 18 interactions.
MINTMINT-4540675.
STRING9606.ENSP00000314311.

PTM databases

PhosphoSiteQ4G0J3.

Polymorphism databases

DMDM121945944.

Proteomic databases

PaxDbQ4G0J3.
PRIDEQ4G0J3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000324052; ENSP00000314311; ENSG00000174720. [Q4G0J3-1]
ENST00000344442; ENSP00000344950; ENSG00000174720. [Q4G0J3-1]
ENST00000509061; ENSP00000422626; ENSG00000174720. [Q4G0J3-3]
GeneID51574.
KEGGhsa:51574.
UCSCuc003iay.4. human. [Q4G0J3-1]

Organism-specific databases

CTD51574.
GeneCardsGC04P113559.
HGNCHGNC:24912. LARP7.
HPAHPA017600.
HPA026842.
HPA027930.
MIM612026. gene.
615071. phenotype.
neXtProtNX_Q4G0J3.
Orphanet319671. Microcephalic primordial dwarfism, Alazami type.
PharmGKBPA145148525.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5193.
HOGENOMHOG000113284.
HOVERGENHBG081891.
InParanoidQ4G0J3.
KOK15191.
OMAQVEFWFG.
OrthoDBEOG72C50R.
PhylomeDBQ4G0J3.
TreeFamTF314476.

Gene expression databases

ArrayExpressQ4G0J3.
BgeeQ4G0J3.
CleanExHS_LARP7.
GenevestigatorQ4G0J3.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
3.30.70.330. 2 hits.
InterProIPR002344. 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]
PfamPF05383. La. 1 hit.
PF00076. RRM_1. 1 hit.
PF08777. RRM_3. 1 hit.
[Graphical view]
PRINTSPR00302. LUPUSLA.
SMARTSM00715. LA. 1 hit.
SM00360. RRM. 1 hit.
[Graphical view]
PROSITEPS50961. HTH_LA. 1 hit.
PS50102. RRM. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSLARP7. human.
GenomeRNAi51574.
NextBio55403.
PROQ4G0J3.
SOURCESearch...

Entry information

Entry nameLARP7_HUMAN
AccessionPrimary (citable) accession number: Q4G0J3
Secondary accession number(s): B2ZHN6 expand/collapse secondary AC list , Q3B7A9, Q9P1S7, Q9Y3Z8
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: August 30, 2005
Last modified: April 16, 2014
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM