Seroatlas · Human Serome Atlas

LRIF1

Ligand-dependent nuclear receptor-interacting factor 1

Also known as: C1orf103, FLJ11269, LRIF1_HUMAN, RIF1

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

Protein identityUniProt · HPA

UniProt accession: Q5T3J3
Gene: LRIF1
Ensembl: ENSG00000121931
Chromosome: 1
Canonical length: 769 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Centriolar satellite

OverviewNCBI Gene

Predicted to enable nuclear retinoic acid receptor binding activity. Involved in dosage compensation by inactivation of X chromosome. Located in centriolar satellite; chromosome, telomeric region; and nuclear lumen. Implicated in facioscapulohumeral muscular dystrophy 3. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

769 residues, UniProt reviewed canonical sequence.

>Q5T3J3|LRIF1
     1  MSNNLRRVFL KPAEENSGNA SRCVSGCMYQ VVQTIGSDGK NLLQLLPIPK SSGNLIPLVQ
    61  SSVMSDALKG NTGKPVQVTF QTQISSSSTS ASVQLPIFQP ASSSNYFLTR TVDTSEKGRV
   121  TSVGTGNFSS SVSKVQSHGV KIDGLTMQTF AVPPSTQKDS SFIVVNTQSL PVTVKSPVLP
   181  SGHHLQIPAH AEVKSVPASS LPPSVQQKIL ATATTSTSGM VEASQMPTVI YVSPVNTVKN
   241  VVTKNFQNIY PKPVTEIAKP VILNTTQIPK NVATETQLKG GQHSQAAPVK WIFQDNLQPF
   301  TPSLVPVKSS NNVASKILKT FVDRKNLGDN TINMPPLSTI DPSGTRSKNM PIKDNALVMF
   361  NGKVYLLAKK GTDVLPSQID QQNSVSPDTP VRKDTLQTVS SSPVTEISRE VVNIVLAKSK
   421  SSQMETKSLS NTQLASMANL RAEKNKVEKP SPSTTNPHMN QSSNYLKQSK TLFTNPIFPV
   481  GFSTGHNAPR KVTAVIYARK GSVLQSIEKI SSSVDATTVT SQQCVFRDQE PKIHNEMAST
   541  SDKGAQGRND KKDSQGRSNK ALHLKSDAEF KKIFGLTKDL RVCLTRIPDH LTSGEGFDSF
   601  SSLVKSGTYK ETEFMVKEGE RKQQNFDKKR KAKTNKKMDH IKKRKTENAY NAIINGEANV
   661  TGSQLLSSIL PTSDVSQHNI LTSHSKTRQE KRTEMEYYTH EKQEKGTLNS NAAYEQSHFF
   721  NKNYTEDIFP VTPPELEETI RDEKIRRLKQ VLREKEAALE EMRKKMHQK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LRIF1 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): 0.66
Highest tissue expression: 24 nTPM

Expression across tissuesHPA

Tissue

testis: 24 nTPM
retina: 20 nTPM
epididymis: 19 nTPM
skeletal muscle: 17 nTPM
tonsil: 16 nTPM
tongue: 16 nTPM

Single-cell type

epididymal principal cells: 188 nCPM
breast lactating cells: 150 nCPM
neutrophils: 138 nCPM
ocular epithelial cells: 126 nCPM
rod photoreceptor cells: 125 nCPM
sertoli cells: 106 nCPM

Immune cell

neutrophil: 32 nTPM
memory B-cell: 30 nTPM
NK-cell: 28 nTPM
MAIT T-cell: 27 nTPM
naive CD8 T-cell: 25 nTPM
basophil: 25 nTPM

Brain region

cerebral cortex: 15 nTPM
cerebellum: 14 nTPM
hypothalamus: 14 nTPM
white matter: 13 nTPM
basal ganglia: 11 nTPM
hippocampal formation: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LRIF1.

Disease | AllUniProt

Conditions LRIF1 is implicated in, by any mechanism.

Facioscapulohumeral muscular dystrophy 3, digenic (FSHD3) MIM:619477

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 113 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Facioscapulohumeral muscular dystrophy 3, digenic

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): 0.68
gnomAD pLI: 0
gnomAD missense Z: 0.24
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

nuclear retinoic acid receptor binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

Ligand-dependent nuclear receptor-interacting factor 1
Ligand-dependent nuclear receptor-interacting factor 1

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LRIF1 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 LRIF1 as an antibody target. Whether an autoantibody or antibody against LRIF1 could matter depends on whether native LRIF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LRIF1 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 LRIF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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