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Protein

La-related protein 7

Gene

LARP7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

Keywordsi

Molecular functionRNA-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

EuPathDBiHostDB:ENSG00000174720.15
HGNCiHGNC:24912 LARP7
MIMi612026 gene
neXtProtiNX_Q4G0J3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
Cross-linki237Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
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
Cross-linki410Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ4G0J3
MaxQBiQ4G0J3
PaxDbiQ4G0J3
PeptideAtlasiQ4G0J3
PRIDEiQ4G0J3

PTM databases

CarbonylDBiQ4G0J3
iPTMnetiQ4G0J3
PhosphoSitePlusiQ4G0J3

Expressioni

Gene expression databases

BgeeiENSG00000174720
CleanExiHS_LARP7
ExpressionAtlasiQ4G0J3 baseline and differential
GenevisibleiQ4G0J3 HS

Organism-specific databases

HPAiHPA026842
HPA027930

Interactioni

Subunit structurei

Integral part of the 7SK RNP complex (PubMed:18483487). Specifically binds to the highly conserved 3'-terminal U-rich stretch of 7SK RNA (PubMed:18483487). On stimulation, remains associated with 7SK RNA, whereas P-TEFb is released from the complex (PubMed:18483487). Interacts with METTL16 (PubMed:29051200).2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi11961984 interactors.
DIPiDIP-47624N
IntActiQ4G0J3 31 interactors.
MINTiQ4G0J3
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
Beta strandi456 – 460Combined sources5
Helixi468 – 478Combined sources11
Beta strandi482 – 486Combined sources5
Beta strandi490 – 496Combined sources7
Helixi500 – 509Combined sources10
Helixi510 – 515Combined sources6
Beta strandi520 – 523Combined sources4
Helixi526 – 542Combined sources17
Beta strandi551 – 555Combined sources5

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

Phylogenomic databases

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

Family and domain databases

CDDicd08032 LARP_7, 1 hit
cd12290 RRM1_LARP7, 1 hit
cd12542 RRM2_LARP7, 1 hit
Gene3Di1.10.10.101 hit
3.30.70.3302 hits
InterProiView protein in InterPro
IPR006630 La_HTH
IPR014886 La_RRM
IPR034946 LARP7_La
IPR034887 LARP7_RRM1
IPR034910 LARP7_RRM2
IPR002344 Lupus_La
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR000504 RRM_dom
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF05383 La, 1 hit
PF00076 RRM_1, 1 hit
PF08777 RRM_3, 1 hit
PRINTSiPR00302 LUPUSLA
SMARTiView protein in SMART
SM00715 LA, 1 hit
SM00360 RRM, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
SSF54928 SSF54928, 2 hits
PROSITEiView protein in PROSITE
PS50961 HTH_LA, 1 hit
PS50102 RRM, 1 hit

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

Similar proteinsi

Entry informationi

Entry nameiLARP7_HUMAN
AccessioniPrimary (citable) accession number: Q4G0J3
Secondary accession number(s): B2ZHN6
, Q3B7A9, Q9P1S7, Q9Y3Z8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: August 30, 2005
Last modified: March 28, 2018
This is version 131 of the entry and version 1 of the sequence. See 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