Seroatlas · Human Serome Atlas

LARP7

La-related protein 7

Also known as: DKFZP564K112, HDCMA18P, LARP7_HUMAN, PIP7S

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q4G0J3
Gene: LARP7
Ensembl: ENSG00000174720
Chromosome: 4
Canonical length: 582 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

Canonical amino-acid sequenceUniProt

582 residues, UniProt reviewed canonical sequence.

>Q4G0J3|LARP7
     1  METESGNQEK VMEEESTEKK KEVEKKKRSR VKQVLADIAK QVDFWFGDAN LHKDRFLREQ
    61  IEKSRDGYVD ISLLVSFNKM KKLTTDGKLI ARALRSSAVV ELDLEGTRIR RKKPLGERPK
   121  DEDERTVYVE LLPKNVNHSW IERVFGKCGN VVYISIPHYK STGDPKGFAF VEFETKEQAA
   181  KAIEFLNNPP EEAPRKPGIF PKTVKNKPIP ALRVVEEKKK KKKKKGRMKK EDNIQAKEEN
   241  MDTSNTSISK MKRSRPTSEG SDIESTEPQK QCSKKKKKRD RVEASSLPEV RTGKRKRSSS
   301  EDAESLAPRS KVKKIIQKDI IKEASEASKE NRDIEISTEE EKDTGDLKDS SLLKTKRKHK
   361  KKHKERHKMG EEVIPLRVLS KSEWMDLKKE YLALQKASMA SLKKTISQIK SESEMETDSG
   421  VPQNTGMKNE KTANREECRT QEKVNATGPQ FVSGVIVKII STEPLPGRKQ VRDTLAAISE
   481  VLYVDLLEGD TECHARFKTP EDAQAVINAY TEINKKHCWK LEILSGDHEQ RYWQKILVDR
   541  QAKLNQPREK KRGTEKLITK AEKIRLAKTQ QASKHIRFSE YD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LARP7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.49
Highest tissue expression: 47 nTPM

Expression across tissuesHPA

Tissue

heart muscle: 47 nTPM
tongue: 34 nTPM
liver: 33 nTPM
thymus: 31 nTPM
kidney: 31 nTPM
lymph node: 31 nTPM

Single-cell type

hepatocytes: 181 nCPM
oocytes: 175 nCPM
syncytiotrophoblasts: 136 nCPM
hepatic stellate cells: 136 nCPM
kupffer cells: 124 nCPM
esophageal basal cells: 114 nCPM

Immune cell

basophil: 22 nTPM
non-classical monocyte: 18 nTPM
NK-cell: 16 nTPM
intermediate monocyte: 14 nTPM
memory B-cell: 14 nTPM
eosinophil: 13 nTPM

Brain region

hypothalamus: 25 nTPM
midbrain: 18 nTPM
medulla oblongata: 17 nTPM
spinal cord: 15 nTPM
thalamus: 15 nTPM
pons: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LARP7.

Disease | AllUniProt

Conditions LARP7 is implicated in, by any mechanism.

Alazami syndrome (ALAZS) MIM:615071

Disease | GeneticClinVar

84 pathogenic / likely-pathogenic of 380 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Microcephalic primordial dwarfism, Alazami type
Intellectual disability
LARP7-related disorder
Abnormal brain morphology
Epileptic encephalopathy

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.84
gnomAD pLI: 0
gnomAD missense Z: -0.27
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

RNA recognition motif domain
Lupus La protein
La-type HTH domain
Nucleotide-binding alpha-beta plait domain superfamily
La protein, xRRM domain
RNA-binding domain superfamily
Winged helix-like DNA-binding domain superfamily
Winged helix DNA-binding domain superfamily
La domain containing protein
RNA recognition motif
La domain
RNA binding motif
LARP7, RNA recognition motif 1
LARP7, RNA recognition motif 2
La-related protein 7, La domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LARP7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LARP7 as an antibody target. Whether an autoantibody or antibody against LARP7 could matter depends on whether native LARP7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LARP7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label LARP7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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