UniProtKB - Q4G0J3 (LARP7_HUMAN)
La-related protein 7
LARP7
Functioni
GO - Molecular functioni
- 7SK snRNA binding Source: UniProtKB
- RNA binding Source: UniProtKB
- U6 snRNA binding Source: UniProtKB
GO - Biological processi
- box C/D snoRNA 3'-end processing Source: UniProtKB
- cell differentiation Source: UniProtKB-KW
- mRNA processing Source: UniProtKB-KW
- positive regulation of protein localization to Cajal body Source: UniProtKB
- positive regulation of snRNA transcription by RNA polymerase II Source: UniProtKB
- regulation of mRNA splicing, via spliceosome Source: UniProtKB
- RNA splicing Source: UniProtKB-KW
- spermatogenesis Source: UniProtKB
- U6 2'-O-snRNA methylation Source: UniProtKB
Keywordsi
Molecular function | RNA-binding |
Biological process | Differentiation, mRNA processing, mRNA splicing, Spermatogenesis, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q4G0J3 |
SIGNORi | Q4G0J3 |
Names & Taxonomyi
Protein namesi | Recommended name: La-related protein 71 PublicationAlternative name(s): La ribonucleoprotein domain family member 71 Publication Short name: hLARP71 Publication P-TEFb-interaction protein for 7SK stability1 Publication Short name: PIP7S1 Publication |
Gene namesi | ORF Names:HDCMA18P1 Publication |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000174720.15 |
HGNCi | HGNC:24912, LARP7 |
MIMi | 612026, gene |
neXtProti | NX_Q4G0J3 |
Subcellular locationi
Nucleus
- nucleoplasm 1 Publication
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- ribonucleoprotein complex Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Alazami syndrome (ALAZS)8 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083351 | 558 – 582 | ITKAE…FSEYD → KRLDWQRLNKRVNI in ALAZS; reduced 2'-O-methylation of U6 snRNAs and defects in mRNA splicing. 1 PublicationAdd BLAST | 25 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 44 | F → A: Reduced binding to U6 snRNA without affecting binding to 7SK RNA. Reduced 2'-O-methylation of U6 snRNAs. 1 Publication | 1 | |
Mutagenesisi | 128 | Y → D: Loss of 7SK RNA-binding and marked decrease in 7SK RNP complex formation. 1 Publication | 1 | |
Mutagenesisi | 130 | E → A: Decreased RNA-binding. 1 Publication | 1 | |
Mutagenesisi | 168 | F → A: Does not affect RNA-binding. 1 Publication | 1 | |
Mutagenesisi | 451 | F → A: Does not affect binding to the 7SK RNA. 1 Publication | 1 | |
Mutagenesisi | 472 | R → A: Does not affect binding to the 7SK RNA. 1 Publication | 1 | |
Mutagenesisi | 483 | Y → A: Reduced binding to the 7SK RNA. Does not affect binding to U6 snRNA. 2 Publications | 1 | |
Mutagenesisi | 483 | Y → F: Does not affect binding to the 7SK RNA. 1 Publication | 1 | |
Mutagenesisi | 496 | R → A: Strongly reduced binding to the stem loop 4 of 7SK RNA. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Dwarfism, Mental retardationOrganism-specific databases
DisGeNETi | 51574 |
MalaCardsi | LARP7 |
MIMi | 615071, phenotype |
OpenTargetsi | ENSG00000174720 |
Orphaneti | 319671, Microcephalic primordial dwarfism, Alazami type |
PharmGKBi | PA145148525 |
Miscellaneous databases
Pharosi | Q4G0J3, Tbio |
Polymorphism and mutation databases
BioMutai | LARP7 |
DMDMi | 121945944 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000281143 | 1 – 582 | La-related protein 7Add BLAST | 582 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Cross-linki | 237 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 257 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 258 | PhosphoserineCombined sources | 1 | |
Modified residuei | 261 | PhosphoserineCombined sources | 1 | |
Modified residuei | 273 | PhosphoserineCombined sources | 1 | |
Modified residuei | 298 | PhosphoserineCombined sources | 1 | |
Modified residuei | 299 | PhosphoserineCombined sources | 1 | |
Modified residuei | 300 | PhosphoserineCombined sources | 1 | |
Modified residuei | 337 | PhosphoserineCombined sources | 1 | |
Modified residuei | 338 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 351 | PhosphoserineCombined sources | 1 | |
Cross-linki | 410 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q4G0J3 |
jPOSTi | Q4G0J3 |
MassIVEi | Q4G0J3 |
MaxQBi | Q4G0J3 |
PaxDbi | Q4G0J3 |
PeptideAtlasi | Q4G0J3 |
PRIDEi | Q4G0J3 |
ProteomicsDBi | 62106 [Q4G0J3-1] 62107 [Q4G0J3-2] |
PTM databases
CarbonylDBi | Q4G0J3 |
iPTMneti | Q4G0J3 |
PhosphoSitePlusi | Q4G0J3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000174720, Expressed in calcaneal tendon and 240 other tissues |
ExpressionAtlasi | Q4G0J3, baseline and differential |
Genevisiblei | Q4G0J3, HS |
Organism-specific databases
HPAi | ENSG00000174720, Low tissue specificity |
Interactioni
Subunit structurei
Core component of the 7SK RNP complex, at least composed of 7SK RNA, LARP7, MEPCE, HEXIM1 (or HEXIM2) and P-TEFb (composed of CDK9 and CCNT1/cyclin-T1) (PubMed:18483487, PubMed:18281698, PubMed:19906723).
Interacts with METTL16 (PubMed:29051200).
Interacts with RBM7; upon genotoxic stress this interaction is enhanced, triggering the release of inactive P-TEFb complex from the core, yielding to P-TEFb complex activation (PubMed:30824372). Associates with box C/D small nucleolar ribonucleoprotein (snoRNP) complexes (PubMed:32017898).
6 PublicationsBinary interactionsi
Hide detailsQ4G0J3
Protein-protein interaction databases
BioGRIDi | 119619, 1007 interactors |
CORUMi | Q4G0J3 |
DIPi | DIP-47624N |
IntActi | Q4G0J3, 71 interactors |
MINTi | Q4G0J3 |
STRINGi | 9606.ENSP00000422626 |
Miscellaneous databases
RNActi | Q4G0J3, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q4G0J3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 28 – 122 | HTH La-type RNA-bindingPROSITE-ProRule annotationAdd BLAST | 95 | |
Domaini | 125 – 203 | RRMPROSITE-ProRule annotationAdd BLAST | 79 | |
Domaini | 450 – 563 | xRRMPROSITE-ProRule annotationAdd BLAST | 114 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 202 – 368 | Lys-richAdd BLAST | 167 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1855, Eukaryota |
GeneTreei | ENSGT00940000154949 |
HOGENOMi | CLU_020946_2_0_1 |
InParanoidi | Q4G0J3 |
OMAi | RKAVHKM |
OrthoDBi | 1499213at2759 |
PhylomeDBi | Q4G0J3 |
TreeFami | TF314476 |
Family and domain databases
CDDi | cd08032, LARP_7, 1 hit cd12290, RRM1_LARP7, 1 hit cd12542, RRM2_LARP7, 1 hit |
Gene3Di | 1.10.10.10, 1 hit 3.30.70.330, 2 hits |
InterProi | View 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 |
Pfami | View protein in Pfam PF05383, La, 1 hit PF00076, RRM_1, 1 hit PF08777, RRM_3, 1 hit |
PRINTSi | PR00302, LUPUSLA |
SMARTi | View protein in SMART SM00715, LA, 1 hit SM00360, RRM, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit SSF54928, SSF54928, 2 hits |
PROSITEi | View protein in PROSITE PS50961, HTH_LA, 1 hit PS50102, RRM, 1 hit PS51939, XRRM, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD6RFF0 | D6RFF0_HUMAN | La ribonucleoprotein domain family ... | LARP7 | 299 | Annotation score: | ||
D6RF49 | D6RF49_HUMAN | La-related protein 7 | LARP7 | 119 | Annotation score: | ||
D6RAF3 | D6RAF3_HUMAN | La-related protein 7 | LARP7 | 129 | Annotation score: | ||
H0YA82 | H0YA82_HUMAN | La-related protein 7 | LARP7 | 334 | Annotation score: | ||
D6R9Z6 | D6R9Z6_HUMAN | La-related protein 7 | LARP7 | 155 | Annotation score: | ||
D6RF22 | D6RF22_HUMAN | La-related protein 7 | LARP7 | 101 | Annotation score: | ||
D6RBH8 | D6RBH8_HUMAN | La-related protein 7 | LARP7 | 45 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 295 | R → G in AAI07710 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 516 | K → R in AAF65503 (Ref. 2) Curated | 1 | |
Sequence conflicti | 516 | K → R in CAB43230 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 560 | K → Q in CAB43230 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_083351 | 558 – 582 | ITKAE…FSEYD → KRLDWQRLNKRVNI in ALAZS; reduced 2'-O-methylation of U6 snRNAs and defects in mRNA splicing. 1 PublicationAdd BLAST | 25 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_024021 | 1 – 368 | Missing in isoform 2. 1 PublicationAdd BLAST | 368 | |
Alternative sequenceiVSP_047390 | 1 | M → MIPNIEGM in isoform 3. 2 Publications | 1 |
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 |
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] |
Genome annotation databases
Ensembli | ENST00000324052; ENSP00000314311; ENSG00000174720 [Q4G0J3-1] ENST00000344442; ENSP00000344950; ENSG00000174720 [Q4G0J3-1] ENST00000509061; ENSP00000422626; ENSG00000174720 [Q4G0J3-3] ENST00000651579; ENSP00000499190; ENSG00000174720 [Q4G0J3-1] |
GeneIDi | 51574 |
KEGGi | hsa:51574 |
UCSCi | uc003iay.5, human [Q4G0J3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4WKR | X-ray | 3.20 | A/B | 1-208 | [»] | |
5KNW | NMR | - | A | 445-561 | [»] | |
6D12 | X-ray | 2.21 | A/B | 445-556 | [»] | |
SMRi | Q4G0J3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 119619, 1007 interactors |
CORUMi | Q4G0J3 |
DIPi | DIP-47624N |
IntActi | Q4G0J3, 71 interactors |
MINTi | Q4G0J3 |
STRINGi | 9606.ENSP00000422626 |
PTM databases
CarbonylDBi | Q4G0J3 |
iPTMneti | Q4G0J3 |
PhosphoSitePlusi | Q4G0J3 |
Polymorphism and mutation databases
BioMutai | LARP7 |
DMDMi | 121945944 |
Proteomic databases
EPDi | Q4G0J3 |
jPOSTi | Q4G0J3 |
MassIVEi | Q4G0J3 |
MaxQBi | Q4G0J3 |
PaxDbi | Q4G0J3 |
PeptideAtlasi | Q4G0J3 |
PRIDEi | Q4G0J3 |
ProteomicsDBi | 62106 [Q4G0J3-1] 62107 [Q4G0J3-2] |
Protocols and materials databases
Antibodypediai | 15535, 188 antibodies |
Genome annotation databases
Ensembli | ENST00000324052; ENSP00000314311; ENSG00000174720 [Q4G0J3-1] ENST00000344442; ENSP00000344950; ENSG00000174720 [Q4G0J3-1] ENST00000509061; ENSP00000422626; ENSG00000174720 [Q4G0J3-3] ENST00000651579; ENSP00000499190; ENSG00000174720 [Q4G0J3-1] |
GeneIDi | 51574 |
KEGGi | hsa:51574 |
UCSCi | uc003iay.5, human [Q4G0J3-1] |
Organism-specific databases
CTDi | 51574 |
DisGeNETi | 51574 |
EuPathDBi | HostDB:ENSG00000174720.15 |
GeneCardsi | LARP7 |
HGNCi | HGNC:24912, LARP7 |
HPAi | ENSG00000174720, Low tissue specificity |
MalaCardsi | LARP7 |
MIMi | 612026, gene 615071, phenotype |
neXtProti | NX_Q4G0J3 |
OpenTargetsi | ENSG00000174720 |
Orphaneti | 319671, Microcephalic primordial dwarfism, Alazami type |
PharmGKBi | PA145148525 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1855, Eukaryota |
GeneTreei | ENSGT00940000154949 |
HOGENOMi | CLU_020946_2_0_1 |
InParanoidi | Q4G0J3 |
OMAi | RKAVHKM |
OrthoDBi | 1499213at2759 |
PhylomeDBi | Q4G0J3 |
TreeFami | TF314476 |
Enzyme and pathway databases
PathwayCommonsi | Q4G0J3 |
SIGNORi | Q4G0J3 |
Miscellaneous databases
BioGRID-ORCSi | 51574, 30 hits in 849 CRISPR screens |
ChiTaRSi | LARP7, human |
GenomeRNAii | 51574 |
Pharosi | Q4G0J3, Tbio |
PROi | PR:Q4G0J3 |
RNActi | Q4G0J3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000174720, Expressed in calcaneal tendon and 240 other tissues |
ExpressionAtlasi | Q4G0J3, baseline and differential |
Genevisiblei | Q4G0J3, HS |
Family and domain databases
CDDi | cd08032, LARP_7, 1 hit cd12290, RRM1_LARP7, 1 hit cd12542, RRM2_LARP7, 1 hit |
Gene3Di | 1.10.10.10, 1 hit 3.30.70.330, 2 hits |
InterProi | View 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 |
Pfami | View protein in Pfam PF05383, La, 1 hit PF00076, RRM_1, 1 hit PF08777, RRM_3, 1 hit |
PRINTSi | PR00302, LUPUSLA |
SMARTi | View protein in SMART SM00715, LA, 1 hit SM00360, RRM, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit SSF54928, SSF54928, 2 hits |
PROSITEi | View protein in PROSITE PS50961, HTH_LA, 1 hit PS50102, RRM, 1 hit PS51939, XRRM, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LARP7_HUMAN | |
Accessioni | Q4G0J3Primary (citable) accession number: Q4G0J3 Secondary accession number(s): B2ZHN6 Q9Y3Z8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 20, 2007 |
Last sequence update: | August 30, 2005 | |
Last modified: | December 2, 2020 | |
This is version 154 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations