SP140 (SP140 nuclear body protein)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11262
Gene name Gene Name - the full gene name approved by the HGNC.
SP140 nuclear body protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SP140
Synonyms (NCBI Gene) Gene synonyms aliases
LYSP100, LYSP100-A, LYSP100-B
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT1381182 hsa-miR-4749-3p CLIP-seq
MIRT2114073 hsa-miR-1236 CLIP-seq
MIRT2114074 hsa-miR-3064-5p CLIP-seq
MIRT2114075 hsa-miR-3156-3p CLIP-seq
MIRT2114076 hsa-miR-4292 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0001650 Component Fibrillar center IDA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 24267382, 32911434
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
608602 17133 ENSG00000079263
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q13342
Protein name Nuclear body protein SP140 (Lymphoid-restricted homolog of Sp100) (LYSp100) (Nuclear autoantigen Sp-140) (Speckled 140 kDa)
Protein function Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body (PubMed:8910577). May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection (PubMed:8910577). May play a role in chro
PDB 2MD7 , 2MD8 , 6G8R , 8J70 , 8J71
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03172 HSR 38 → 136 HSR domain Domain
PF01342 SAND 584 → 660 SAND domain Family
PF00439 Bromodomain 766 → 840 Bromodomain Domain
Tissue specificity TISSUE SPECIFICITY: High levels in spleen and peripheral blood leukocytes, much lower levels in tonsils, thymus, prostate, ovary, small intestine, and colon (PubMed:8695863, PubMed:8910577). Very low levels in heart, brain, placenta, lung, liver, skeletal
Sequence 
MAQQGQQGQMASGDSNLNFRMVAEIQNVEGQNLQEQVCPEPIFRFFRENKVEIASAITRP
FPFLMGLRDRSFISEQMYEHFQEAFRNLVPVTRVMYCVLSELEKTFGWSHLEALFSRINL
MAYPDLNEIYRSFQNVCYEHSPLQMNNVNDLEDRPRLLPYGKQENSNACHEMDDIAVPQE
ALSSSPRCEPGFSSESCEQLALPKAGGGDAEDAPSLLPGGGVSCKLAIQIDEGESEEMPK
LLPYDTEVLESNGMIDAARTYSTAPGEKQGEEEGRNSPRKRNQDKEKYQESPEGRDKETF
DLKTPQVTNEGEPEKGLCLLPGEGEEGSDDCSEMCDGEEPQEASSSLARCGSVSCLSAET
FDLKTPQVTNEGEPEKELSLLPGEGEEGSDDCSEMCDGEERQEASSSLARRGSVSSELEN
HPMNEEGESEELASSLLYDNVPGAEQSAYENEKCSCVMCFSEEVPGSPEARTESDQACGT
MDTVDIANNSTLGKPKRKRRKKRGHGWSRMRMRRQENSQQNDNSKADGQVVSSEKKANVN
LKDLSKIRGRKRGKPGTRFTQSDRAAQKRVRSRASRKHKDETVDFKAPLLPVTCGGVKGI
LHKKKLQQGILVKCIQTEDGKWFTPTEFEIKGGHARSKNWRLSVRCGGWPLRWLMENGFL
PDPPRIRYRKKKRILKSQNNSSVDPCMRNLDECEVCRDGGELFCCDTCSRVFHEDCHIPP
VEAERTPWNCIFCRMKESPGSQQCCQESEVLERQMCPEEQLKCEFLLLKVYCCSESSFFA
KIPYYYYIREACQGLKEPMWLDKIKKRLNEHGYPQVEGFVQDMRLIFQNHRASYKYKDFG
QMGFRLEAEFEKNFKEVFAIQETNGNN
Sequence length 867
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Hepatic venoocclusive disease with immunodeficiency Hepatic venoocclusive disease with immunodeficiency rs397515361, rs397515362, rs397515572, rs199845488, rs1560530550, rs927135298, rs199938221, rs763364899 16648851, 22621957
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 26192919
Multiple myeloma Multiple Myeloma rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962
View all (38 more)		 28112199
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)		 21833088, 24076602
Show/Hide Unknown Diseases (8)
Unknown
Disease term Disease name Evidence References Source
Cholangiocarcinoma Cholangiocarcinoma 28779025 ClinVar
Crohn disease Crohn Disease 26192919, 21102463, 26974007, 23128233, 28067908 ClinVar
Nasopharyngeal carcinoma Nasopharyngeal carcinoma These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. 20512145 ClinVar, CBGDA
Sarcoidosis Sarcoidosis 26051272 ClinVar, GWAS
Show/Hide Text Mining Associations (28)
Associations from Text Mining
Disease Name Relationship Type References
Chromosome Deletion Inhibit 23708256
Crohn Disease Associate 35986286, 40226707
Depressive Disorder Associate 40226707
Disorders of Excessive Somnolence Associate 26888452
Gastrointestinal Neoplasms Associate 40226707
Inflammation Associate 35986286
Inflammation Stimulate 36600652
Interferon gamma receptor 1 deficiency Associate 23683877
Leukemia Associate 37370186
Leukemia B Cell Associate 20855867