Seroatlas · Human Serome Atlas

SP110

Sp110 nuclear body protein

Also known as: IFI41, IFI75, SP110_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9HB58
Gene: SP110
Ensembl: ENSG00000135899
Chromosome: 2
Canonical length: 689 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm

OverviewNCBI Gene

The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

689 residues, UniProt reviewed canonical sequence.

>Q9HB58|SP110
     1  MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP
    61  VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL
   121  LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV
   181  LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE
   241  MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG
   301  TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE
   361  GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA
   421  RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM
   481  KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK RKNSDECEVC
   541  CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ
   601  PQDQLIRDYG EPFQEAMWLD LVKERLITEM YTVAWFVRDM RLMFRNHKTF YKASDFGQVG
   661  LDLEAEFEKD LKDVLGFHEA NDGGFWTLP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SP110 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): 0.53
Highest tissue expression: 49 nTPM

Expression across tissuesHPA

Tissue

lymph node: 49 nTPM
spleen: 46 nTPM
tonsil: 46 nTPM
appendix: 36 nTPM
thymus: 33 nTPM
bone marrow: 23 nTPM

Single-cell type

neutrophils: 539 nCPM
b-cells: 375 nCPM
pdcs: 240 nCPM
breast lactating cells: 238 nCPM
microglia: 168 nCPM
t-cells: 140 nCPM

Immune cell

neutrophil: 270 nTPM
non-classical monocyte: 140 nTPM
memory B-cell: 139 nTPM
naive B-cell: 129 nTPM
eosinophil: 123 nTPM
basophil: 89 nTPM

Brain region

medulla oblongata: 24 nTPM
spinal cord: 16 nTPM
pons: 16 nTPM
white matter: 15 nTPM
choroid plexus: 15 nTPM
hypothalamus: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SP110.

Disease | AllUniProt

Conditions SP110 is implicated in, by any mechanism.

Hepatic venoocclusive disease with immunodeficiency (VODI) MIM:235550

Disease | GeneticClinVar

41 pathogenic / likely-pathogenic of 595 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hepatic veno-occlusive disease-immunodeficiency syndrome
Mycobacterium tuberculosis, susceptibility to

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): 0.95
gnomAD pLI: 0
gnomAD missense Z: 0.33
DepMap mean gene effect: -0.04
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

regulation of transcription by RNA polymerase II

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SP110 as an antibody target. Whether an autoantibody or antibody against SP110 could matter depends on whether native SP110 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SP110 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 SP110 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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