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Protein

La-related protein 7

Gene

LARP7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

  • nucleotide binding Source: InterPro
  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

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
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:24912. LARP7.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Alazami syndrome (ALAZS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615071

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi128Y → D: Loss of 7SK RNA-binding and marked decrease in 7SK RNP complex formation. 1 Publication1

Keywords - Diseasei

Dwarfism, Mental retardation

Organism-specific databases

DisGeNETi51574.
MalaCardsiLARP7.
MIMi615071. phenotype.
OpenTargetsiENSG00000174720.
Orphaneti319671. Microcephalic primordial dwarfism, Alazami type.
PharmGKBiPA145148525.

Polymorphism and mutation databases

BioMutaiLARP7.
DMDMi121945944.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002811431 – 582La-related protein 7Add BLAST582

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei257PhosphothreonineCombined sources1
Modified residuei258PhosphoserineCombined sources1
Modified residuei261PhosphoserineCombined sources1
Modified residuei273PhosphoserineCombined sources1
Modified residuei298PhosphoserineCombined sources1
Modified residuei299PhosphoserineCombined sources1
Modified residuei300PhosphoserineCombined sources1
Modified residuei337PhosphoserineCombined sources1
Modified residuei338PhosphothreonineCombined sources1
Modified residuei351PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ4G0J3.
MaxQBiQ4G0J3.
PaxDbiQ4G0J3.
PeptideAtlasiQ4G0J3.
PRIDEiQ4G0J3.

PTM databases

iPTMnetiQ4G0J3.
PhosphoSitePlusiQ4G0J3.

Expressioni

Gene expression databases

BgeeiENSG00000174720.
CleanExiHS_LARP7.
ExpressionAtlasiQ4G0J3. baseline and differential.
GenevisibleiQ4G0J3. HS.

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. 62 interactors.
DIPiDIP-47624N.
IntActiQ4G0J3. 22 interactors.
MINTiMINT-4540675.
STRINGi9606.ENSP00000314311.

Structurei

Secondary structure

1582
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi30 – 45Combined sources16
Helixi48 – 53Combined sources6
Helixi55 – 62Combined sources8
Helixi71 – 75Combined sources5
Helixi78 – 81Combined sources4
Helixi87 – 93Combined sources7
Beta strandi106 – 110Combined sources5
Helixi122 – 125Combined sources4
Beta strandi127 – 130Combined sources4
Helixi137 – 146Combined sources10
Beta strandi151 – 155Combined sources5
Beta strandi160 – 162Combined sources3
Beta strandi167 – 175Combined sources9
Helixi176 – 183Combined sources8
Turni184 – 187Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4WKRX-ray3.20A/B1-208[»]
5KNWNMR-A445-561[»]
ProteinModelPortaliQ4G0J3.
SMRiQ4G0J3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini28 – 122HTH La-type RNA-bindingPROSITE-ProRule annotationAdd BLAST95
Domaini125 – 203RRMPROSITE-ProRule annotationAdd BLAST79

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi202 – 368Lys-richAdd BLAST167

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

eggNOGiENOG410IQXQ. Eukaryota.
COG5193. LUCA.
GeneTreeiENSGT00830000128323.
HOGENOMiHOG000113284.
HOVERGENiHBG081891.
InParanoidiQ4G0J3.
KOiK15191.
OMAiLSKTEWM.
OrthoDBiEOG091G0E47.
PhylomeDBiQ4G0J3.
TreeFamiTF314476.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
3.30.70.330. 2 hits.
InterProiIPR014886. La_RRM.
IPR002344. Lupus_La.
IPR006630. Lupus_La_RNA-bd.
IPR012677. Nucleotide-bd_a/b_plait.
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]
SUPFAMiSSF46785. SSF46785. 1 hit.
SSF54928. SSF54928. 2 hits.
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. AlignAdd to basket

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

        10         20         30         40         50
METESGNQEK VMEEESTEKK KEVEKKKRSR VKQVLADIAK QVDFWFGDAN
60 70 80 90 100
LHKDRFLREQ IEKSRDGYVD ISLLVSFNKM KKLTTDGKLI ARALRSSAVV
110 120 130 140 150
ELDLEGTRIR RKKPLGERPK DEDERTVYVE LLPKNVNHSW IERVFGKCGN
160 170 180 190 200
VVYISIPHYK STGDPKGFAF VEFETKEQAA KAIEFLNNPP EEAPRKPGIF
210 220 230 240 250
PKTVKNKPIP ALRVVEEKKK KKKKKGRMKK EDNIQAKEEN MDTSNTSISK
260 270 280 290 300
MKRSRPTSEG SDIESTEPQK QCSKKKKKRD RVEASSLPEV RTGKRKRSSS
310 320 330 340 350
EDAESLAPRS KVKKIIQKDI IKEASEASKE NRDIEISTEE EKDTGDLKDS
360 370 380 390 400
SLLKTKRKHK KKHKERHKMG EEVIPLRVLS KSEWMDLKKE YLALQKASMA
410 420 430 440 450
SLKKTISQIK SESEMETDSG VPQNTGMKNE KTANREECRT QEKVNATGPQ
460 470 480 490 500
FVSGVIVKII STEPLPGRKQ VRDTLAAISE VLYVDLLEGD TECHARFKTP
510 520 530 540 550
EDAQAVINAY TEINKKHCWK LEILSGDHEQ RYWQKILVDR QAKLNQPREK
560 570 580
KRGTEKLITK AEKIRLAKTQ QASKHIRFSE YD
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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti295R → G in AAI07710 (PubMed:15489334).Curated1
Sequence conflicti516K → R in AAF65503 (Ref. 2) Curated1
Sequence conflicti516K → R in CAB43230 (PubMed:17974005).Curated1
Sequence conflicti560K → Q in CAB43230 (PubMed:17974005).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0240211 – 368Missing in isoform 2. 1 PublicationAdd BLAST368
Alternative sequenceiVSP_0473901M → MIPNIEGM in isoform 3. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.5. human. [Q4G0J3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4WKRX-ray3.20A/B1-208[»]
5KNWNMR-A445-561[»]
ProteinModelPortaliQ4G0J3.
SMRiQ4G0J3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119619. 62 interactors.
DIPiDIP-47624N.
IntActiQ4G0J3. 22 interactors.
MINTiMINT-4540675.
STRINGi9606.ENSP00000314311.

PTM databases

iPTMnetiQ4G0J3.
PhosphoSitePlusiQ4G0J3.

Polymorphism and mutation databases

BioMutaiLARP7.
DMDMi121945944.

Proteomic databases

EPDiQ4G0J3.
MaxQBiQ4G0J3.
PaxDbiQ4G0J3.
PeptideAtlasiQ4G0J3.
PRIDEiQ4G0J3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324052; ENSP00000314311; ENSG00000174720. [Q4G0J3-1]
ENST00000344442; ENSP00000344950; ENSG00000174720. [Q4G0J3-1]
ENST00000509061; ENSP00000422626; ENSG00000174720. [Q4G0J3-3]
GeneIDi51574.
KEGGihsa:51574.
UCSCiuc003iay.5. human. [Q4G0J3-1]

Organism-specific databases

CTDi51574.
DisGeNETi51574.
GeneCardsiLARP7.
HGNCiHGNC:24912. LARP7.
HPAiHPA017600.
HPA026842.
HPA027930.
MalaCardsiLARP7.
MIMi612026. gene.
615071. phenotype.
neXtProtiNX_Q4G0J3.
OpenTargetsiENSG00000174720.
Orphaneti319671. Microcephalic primordial dwarfism, Alazami type.
PharmGKBiPA145148525.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQXQ. Eukaryota.
COG5193. LUCA.
GeneTreeiENSGT00830000128323.
HOGENOMiHOG000113284.
HOVERGENiHBG081891.
InParanoidiQ4G0J3.
KOiK15191.
OMAiLSKTEWM.
OrthoDBiEOG091G0E47.
PhylomeDBiQ4G0J3.
TreeFamiTF314476.

Miscellaneous databases

ChiTaRSiLARP7. human.
GenomeRNAii51574.
PROiQ4G0J3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174720.
CleanExiHS_LARP7.
ExpressionAtlasiQ4G0J3. baseline and differential.
GenevisibleiQ4G0J3. HS.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
3.30.70.330. 2 hits.
InterProiIPR014886. La_RRM.
IPR002344. Lupus_La.
IPR006630. Lupus_La_RNA-bd.
IPR012677. Nucleotide-bd_a/b_plait.
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]
SUPFAMiSSF46785. SSF46785. 1 hit.
SSF54928. SSF54928. 2 hits.
PROSITEiPS50961. HTH_LA. 1 hit.
PS50102. RRM. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 121 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.