Q9HB58 (SP110_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sp110 nuclear body protein

Alternative name(s):
Interferon-induced protein 41/75
Speckled 110 kDa
Transcriptional coactivator Sp110

Gene names

Name:

SP110

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	689 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE).
Subunit structure	Isoform 3 interacts with HCV core protein. Ref.7
Subcellular location	Nucleus. Note: Found in the nuclear body. Ref.2
Tissue specificity	Highly expressed in peripheral blood leukocytes and spleen. Detected at intermediate levels in thymus, prostate, testis, ovary, small intestine and colon, and at low levels in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Induction	By IFNG/IFN-gamma and all-trans retinoic acid (ATRA).
Post-translational modification	Phosphorylated (isoform 2). Ref.1
Involvement in disease	Hepatic venoocclusive disease with immunodeficiency (VODI) [MIM:235550]: Autosomal recessive primary immunodeficiency associated with hepatic vascular occlusion and fibrosis. The immunodeficiency is characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, and absent tissue plasma cells. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8
Sequence similarities	Contains 1 bromo domain. Contains 1 HSR domain. Contains 1 PHD-type zinc finger. Contains 1 SAND domain.
Sequence caution	The sequence AAF99318.1 differs from that shown. Reason: Frameshift at several positions. The sequence AAG09826.1 differs from that shown. Reason: Frameshift at positions 141 and 143. The sequence AK026488 differs from that shown. Reason: Frameshift at positions 296, 542 and 567. Isoform 3: The sequence AAF99318.1 differs from that shown. Reason: Frameshift at position 534.

Ontologies

Keywords
Biological process	Host-virus interaction Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Bromodomain Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW virus-host interaction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleolus Inferred from direct assay. Source: HPA
Molecular_function	DNA binding Traceable author statement Ref.1. Source: ProtInc signal transducer activity Traceable author statement Ref.1. Source: ProtInc zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9HB58-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9HB58-2)

Also known as: IFI75; 75;

The sequence of this isoform differs from the canonical sequence as follows:
     1-203: Missing.
     606-611: IRDYGE → NVSSSS
     612-689: Missing.

Isoform 3 (identifier: Q9HB58-3)

Also known as: Sp110b;

The sequence of this isoform differs from the canonical sequence as follows:
     531-549: RKNSDECEVCCQGGQLLCC → SGLLLCPPRINLKRELNSK
     550-689: Missing.

Isoform 4 (identifier: Q9HB58-4)

Also known as: IFI41; 41;

The sequence of this isoform differs from the canonical sequence as follows:
     1-251: Missing.
     252-275: IRDNSPEPNDPEEPQEVSSTPSDK → MASSGVKNTPRWRRKAPHGRERKE
     300-349: Missing.
     531-549: RKNSDECEVCCQGGQLLCC → SGLLLCPPRINLKRELNSK
     550-689: Missing.

Isoform 5 (identifier: Q9HB58-5)

The sequence of this isoform differs from the canonical sequence as follows:
     300-303: GTAS → AL
     531-549: RKNSDECEVCCQGGQLLCC → SGLLLCPPRINLKRELNSK
     550-689: Missing.

Isoform 6 (identifier: Q9HB58-6)

The sequence of this isoform differs from the canonical sequence as follows:
     605-605: L → LKCEFLLLKAYCHPQSSFFTGIPFN

Isoform 7 (identifier: Q9HB58-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGRGFRM
     531-549: RKNSDECEVCCQGGQLLCC → SGLLLCPPRINLKRELNSK
     550-689: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 689	689	Sp110 nuclear body protein		PRO_0000074101
Regions
	Domain	1 – 108	108	HSR
	Domain	454 – 535	82	SAND
	Domain	581 – 676	96	Bromo
	Zinc finger	534 – 580	47	PHD-type
	Region	525 – 529	5	Nuclear hormone receptor interaction Potential
	Motif	281 – 294	14	Nuclear localization signal Potential
	Motif	428 – 444	17	Nuclear localization signal Potential
Amino acid modifications
	Modified residue	175	1	Phosphoserine By similarity
	Modified residue	177	1	Phosphoserine By similarity
	Modified residue	256	1	Phosphoserine Ref.10 Ref.11
Natural variations
	Alternative sequence	1 – 251	251	Missing in isoform 4.		VSP_005991
	Alternative sequence	1 – 203	203	Missing in isoform 2.		VSP_005992
	Alternative sequence	1	1	M → MGRGFRM in isoform 7.		VSP_046079
	Alternative sequence	252 – 275	24	IRDNS…TPSDK → MASSGVKNTPRWRRKAPHGR ERKE in isoform 4.		VSP_005994
	Alternative sequence	300 – 349	50	Missing in isoform 4.		VSP_005995
	Alternative sequence	300 – 303	4	GTAS → AL in isoform 5.		VSP_005996
	Alternative sequence	531 – 549	19	RKNSD…QLLCC → SGLLLCPPRINLKRELNSK in isoform 3, isoform 4, isoform 5 and isoform 7.		VSP_005997
	Alternative sequence	550 – 689	140	Missing in isoform 3, isoform 4, isoform 5 and isoform 7.		VSP_006000
	Alternative sequence	605	1	L → LKCEFLLLKAYCHPQSSFFT GIPFN in isoform 6.		VSP_035593
	Alternative sequence	606 – 611	6	IRDYGE → NVSSSS in isoform 2.		VSP_006001
	Alternative sequence	612 – 689	78	Missing in isoform 2.		VSP_006002
	Natural variant	8	1	M → T in a breast cancer sample; somatic mutation. Ref.14		VAR_036029
	Natural variant	112	1	W → R. Ref.3 Ref.13 Corresponds to variant rs1129411 [ dbSNP | Ensembl ].		VAR_027170
	Natural variant	128	1	A → V. Ref.12 Corresponds to variant rs11556887 [ dbSNP | Ensembl ].		VAR_027171
	Natural variant	173	1	S → L. Corresponds to variant rs41552315 [ dbSNP | Ensembl ].		VAR_047051
	Natural variant	206	1	A → V. Ref.12 Corresponds to variant rs28930679 [ dbSNP | Ensembl ].		VAR_027172
	Natural variant	207	1	E → K. Ref.3 Ref.12 Ref.13 Corresponds to variant rs9061 [ dbSNP | Ensembl ].		VAR_027173
	Natural variant	210	1	S → A. Corresponds to variant rs1063154 [ dbSNP | Ensembl ].		VAR_047052
	Natural variant	212	1	E → G. Ref.13 Corresponds to variant rs1047254 [ dbSNP | Ensembl ].		VAR_027174
	Natural variant	249	1	M → V. Ref.13 Corresponds to variant rs3769838 [ dbSNP | Ensembl ].		VAR_027175
	Natural variant	267	1	E → G. Ref.13 Corresponds to variant rs1129425 [ dbSNP | Ensembl ].		VAR_027176
	Natural variant	299	1	G → R. Ref.1 Ref.2 Ref.3 Ref.6 Ref.12 Ref.13 Corresponds to variant rs1365776 [ dbSNP | Ensembl ].		VAR_027177
	Natural variant	367	1	T → M. Ref.12 Corresponds to variant rs59573011 [ dbSNP | Ensembl ].		VAR_027178
	Natural variant	425	1	L → S Polymorphism; may be associated with increased susceptibility to tuberculosis. Ref.3 Ref.12 Ref.13 Corresponds to variant rs3948464 [ dbSNP | Ensembl ].		VAR_027179
	Natural variant	523	1	M → T. Ref.2 Ref.13 Corresponds to variant rs1135791 [ dbSNP | Ensembl ].		VAR_027180
	Natural variant	579	1	M → I. Ref.13 Corresponds to variant rs3948463 [ dbSNP | Ensembl ].		VAR_027181
	Natural variant	683	1	G → S in a breast cancer sample; somatic mutation. Ref.14		VAR_036030
Experimental info
	Sequence conflict	167	1	D → T in AAF99318. Ref.2
	Sequence conflict	167	1	D → T in AAG09826. Ref.2
	Sequence conflict	464	1	L → S in AAA18806. Ref.1
	Sequence conflict	570	1	M → I in AK026488. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 30, 2010. Version 5. Checksum: 31552E1A4C498EF7	FASTA	689	78,396
	10 20 30 40 50 60 MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP 70 80 90 100 110 120 VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL 130 140 150 160 170 180 LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV 190 200 210 220 230 240 LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE 250 260 270 280 290 300 MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG 310 320 330 340 350 360 TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE 370 380 390 400 410 420 GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA 430 440 450 460 470 480 RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM 490 500 510 520 530 540 KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK RKNSDECEVC 550 560 570 580 590 600 CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ 610 620 630 640 650 660 PQDQLIRDYG EPFQEAMWLD LVKERLITEM YTVAWFVRDM RLMFRNHKTF YKASDFGQVG 670 680 LDLEAEFEKD LKDVLGFHEA NDGGFWTLP
	Isoform 2 (IFI75) (75) [UniParc]. Checksum: C9AFB49FD426F9F5	FASTA	408	46,285
	10 20 30 40 50 60 MNAEEDSEEM PSLLTSTVQV ASDNLIPQIR DKEDPQEMPH SPLGSMPEIR DNSPEPNDPE 70 80 90 100 110 120 EPQEVSSTPS DKKGKKRKRC IWSTPKRRHK KKSLPGGTAS SRHGIQKKLK RVDQVPQKKD 130 140 150 160 170 180 DSTCNSTVET RAQKARTECA RKSRSEEIID GTSEMNEGKR SQKTPSTPRR VTQGAASPGH 190 200 210 220 230 240 GIQEKLQVVD KVTQRKDDST WNSEVMMRVQ KARTKCARKS RLKEKKKEKD ICSSSKRRFQ 250 260 270 280 290 300 KNIHRRGKPK SDTVDFHCSK LPVTCGEAKG ILYKKKMKHG SSVKCIRNED GTWLTPNEFE 310 320 330 340 350 360 VEGKGRNAKN WKRNIRCEGM TLGELLKRKN SDECEVCCQG GQLLCCGTCP RVFHEDCHIP 370 380 390 400 PVEAKRMLWS CTFCRMKRSS GSQQCHHVSK TLERQMQPQD QLNVSSSS
	Isoform 3 (Sp110b) [UniParc]. Checksum: A074ED9825817FC3	FASTA	549	61,898
	10 20 30 40 50 60 MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP 70 80 90 100 110 120 VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL 130 140 150 160 170 180 LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV 190 200 210 220 230 240 LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE 250 260 270 280 290 300 MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG 310 320 330 340 350 360 TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE 370 380 390 400 410 420 GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA 430 440 450 460 470 480 RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM 490 500 510 520 530 540 KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK SGLLLCPPRI NLKRELNSK
	Isoform 4 (IFI41) (41) [UniParc]. Checksum: 54B0C13AA73E51E1	FASTA	248	28,510
	10 20 30 40 50 60 MASSGVKNTP RWRRKAPHGR ERKEKGKKRK RCIWSTPKRR HKKKSLPGEI IDGTSEMNEG 70 80 90 100 110 120 KRSQKTPSTP RRVTQGAASP GHGIQEKLQV VDKVTQRKDD STWNSEVMMR VQKARTKCAR 130 140 150 160 170 180 KSRLKEKKKE KDICSSSKRR FQKNIHRRGK PKSDTVDFHC SKLPVTCGEA KGILYKKKMK 190 200 210 220 230 240 HGSSVKCIRN EDGTWLTPNE FEVEGKGRNA KNWKRNIRCE GMTLGELLKS GLLLCPPRIN LKRELNSK
	Isoform 5 [UniParc]. Checksum: FA0D7C52A2025D87	FASTA	547	61,766
	10 20 30 40 50 60 MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP 70 80 90 100 110 120 VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL 130 140 150 160 170 180 LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV 190 200 210 220 230 240 LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE 250 260 270 280 290 300 MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGA 310 320 330 340 350 360 LSRHGIQKKL KRVDQVPQKK DDSTCNSTVE TRAQKARTEC ARKSRSEEII DGTSEMNEGK 370 380 390 400 410 420 RSQKTPSTPR RVTQGAASPG HGIQEKLQVV DKVTQRKDDS TWNSEVMMRV QKARTKCARK 430 440 450 460 470 480 SRLKEKKKEK DICSSSKRRF QKNIHRRGKP KSDTVDFHCS KLPVTCGEAK GILYKKKMKH 490 500 510 520 530 540 GSSVKCIRNE DGTWLTPNEF EVEGKGRNAK NWKRNIRCEG MTLGELLKSG LLLCPPRINL KRELNSK
	Isoform 6 [UniParc]. Checksum: 146D7A3D0EEB99EA	FASTA	713	81,169
	10 20 30 40 50 60 MFTMTRAMEE ALFQHFMHQK LGIAYAIHKP FPFFEGLLDN SIITKRMYME SLEACRNLIP 70 80 90 100 110 120 VSRVVHNILT QLERTFNLSL LVTLFSQINL REYPNLVTIY RSFKRVGASY EWQSRDTPIL 130 140 150 160 170 180 LEAPTGLAEG SSLHTPLALP PPQPPQPSCS PCAPRVSEPG TSSQQSDEIL SESPSPSDPV 190 200 210 220 230 240 LPLPALIQEG RSTSVTNDKL TSKMNAEEDS EEMPSLLTST VQVASDNLIP QIRDKEDPQE 250 260 270 280 290 300 MPHSPLGSMP EIRDNSPEPN DPEEPQEVSS TPSDKKGKKR KRCIWSTPKR RHKKKSLPGG 310 320 330 340 350 360 TASSRHGIQK KLKRVDQVPQ KKDDSTCNST VETRAQKART ECARKSRSEE IIDGTSEMNE 370 380 390 400 410 420 GKRSQKTPST PRRVTQGAAS PGHGIQEKLQ VVDKVTQRKD DSTWNSEVMM RVQKARTKCA 430 440 450 460 470 480 RKSRLKEKKK EKDICSSSKR RFQKNIHRRG KPKSDTVDFH CSKLPVTCGE AKGILYKKKM 490 500 510 520 530 540 KHGSSVKCIR NEDGTWLTPN EFEVEGKGRN AKNWKRNIRC EGMTLGELLK RKNSDECEVC 550 560 570 580 590 600 CQGGQLLCCG TCPRVFHEDC HIPPVEAKRM LWSCTFCRMK RSSGSQQCHH VSKTLERQMQ 610 620 630 640 650 660 PQDQLKCEFL LLKAYCHPQS SFFTGIPFNI RDYGEPFQEA MWLDLVKERL ITEMYTVAWF 670 680 690 700 710 VRDMRLMFRN HKTFYKASDF GQVGLDLEAE FEKDLKDVLG FHEANDGGFW TLP
	Isoform 7 [UniParc]. Checksum: 44866BA4C9BBA7D0	FASTA	555	62,603
	10 20 30 40 50 60 MGRGFRMFTM TRAMEEALFQ HFMHQKLGIA YAIHKPFPFF EGLLDNSIIT KRMYMESLEA 70 80 90 100 110 120 CRNLIPVSRV VHNILTQLER TFNLSLLVTL FSQINLREYP NLVTIYRSFK RVGASYEWQS 130 140 150 160 170 180 RDTPILLEAP TGLAEGSSLH TPLALPPPQP PQPSCSPCAP RVSEPGTSSQ QSDEILSESP 190 200 210 220 230 240 SPSDPVLPLP ALIQEGRSTS VTNDKLTSKM NAEEDSEEMP SLLTSTVQVA SDNLIPQIRD 250 260 270 280 290 300 KEDPQEMPHS PLGSMPEIRD NSPEPNDPEE PQEVSSTPSD KKGKKRKRCI WSTPKRRHKK 310 320 330 340 350 360 KSLPGGTASS RHGIQKKLKR VDQVPQKKDD STCNSTVETR AQKARTECAR KSRSEEIIDG 370 380 390 400 410 420 TSEMNEGKRS QKTPSTPRRV TQGAASPGHG IQEKLQVVDK VTQRKDDSTW NSEVMMRVQK 430 440 450 460 470 480 ARTKCARKSR LKEKKKEKDI CSSSKRRFQK NIHRRGKPKS DTVDFHCSKL PVTCGEAKGI 490 500 510 520 530 540 LYKKKMKHGS SVKCIRNEDG TWLTPNEFEV EGKGRNAKNW KRNIRCEGMT LGELLKSGLL 550 LCPPRINLKR ELNSK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of two new interferon-induced, highly related nuclear phosphoproteins." Kadereit S., Gewert D.R., Galabru J., Hovanessian A.G., Meurs E.F. J. Biol. Chem. 268:24432-24441(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4), PHOSPHORYLATION (ISOFORM 2), VARIANT ARG-299. Tissue: Lymphoma.
[2]	"Sp110 localizes to the PML-Sp100 nuclear body and may function as a nuclear hormone receptor transcriptional coactivator." Bloch D.B., Nakajima A., Gulick T., Chiche J.-D., Orth D., de La Monte S.M., Bloch K.D. Mol. Cell. Biol. 20:6138-6146(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), SUBCELLULAR LOCATION, VARIANTS ARG-299 AND THR-523. Tissue: Spleen.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 6 AND 7), VARIANTS ARG-112; LYS-207; ARG-299 AND SER-425. Tissue: Ileal mucosa and Spleen.
[4]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), VARIANT ARG-299. Tissue: Lymph.
[7]	"Modulation of retinoid signaling by a cytoplasmic viral protein via sequestration of Sp110b, a potent transcriptional corepressor of retinoic acid receptor, from the nucleus." Watashi K., Hijikata M., Tagawa A., Doi T., Marusawa H., Shimotohno K. Mol. Cell. Biol. 23:7498-7509(2003) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH HCV CORE PROTEIN.
[8]	"Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease." Roscioli T., Cliffe S.T., Bloch D.B., Bell C.G., Mullan G., Taylor P.J., Sarris M., Wang J., Donald J.A., Kirk E.P., Ziegler J.B., Salzer U., McDonald G.B., Wong M., Lindeman R., Buckley M.F. Nat. Genet. 38:620-622(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN VODI.
[9]	"Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment." Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J. J. Proteome Res. 7:5167-5176(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: T-cell.
[10]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-256, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[11]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-256, MASS SPECTROMETRY.
[12]	"No associations of human pulmonary tuberculosis with Sp110 variants." Thye T., Browne E.N., Chinbuah M.A., Gyapong J., Osei I., Owusu-Dabo E., Niemann S., Ruesch-Gerdes S., Horstmann R.D., Meyer C.G. J. Med. Genet. 43:E32-E32(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS VAL-128; VAL-206; LYS-207; ARG-299; MET-367 AND SER-425.
[13]	"Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa." Tosh K., Campbell S.J., Fielding K., Sillah J., Bah B., Gustafson P., Manneh K., Lisse I., Sirugo G., Bennett S., Aaby P., McAdam K.P.W.J., Bah-Sow O., Lienhardt C., Kramnik I., Hill A.V.S. Proc. Natl. Acad. Sci. U.S.A. 103:10364-10368(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ARG-112; LYS-207; GLY-212; VAL-249; GLY-267; ARG-299; SER-425; THR-523 AND ILE-579.
[14]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-8 AND SER-683.
+	Additional computationally mapped references.

Web resources

SP110base

SP110 mutation db

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	L22342 mRNA. Translation: AAA18806.1. L22343 mRNA. Translation: AAD13402.1. AF280094 mRNA. Translation: AAF99318.1. Frameshift. AF280095 mRNA. Translation: AAG09826.1. Frameshift. AK026488 mRNA. No translation available. AK301097 mRNA. Translation: BAG62696.1. AC009950 Genomic DNA. Translation: AAX93281.1. CH471063 Genomic DNA. Translation: EAW70915.1. BC019059 mRNA. Translation: AAH19059.1.
IPI	IPI00162549. IPI00220746. IPI00398959. IPI00472430. IPI00873254. IPI00913939.
PIR	A49515.
RefSeq	NP_001171944.1. NM_001185015.1. NP_004500.3. NM_004509.3. NP_536349.2. NM_080424.2.
UniGene	Hs.145150.
3D structure databases
ProteinModelPortal	Q9HB58.
SMR	Q9HB58. Positions 455-674.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9HB58. 2 interactions.
MINT	MINT-1401836.
STRING	9606.ENSP00000258381.
PTM databases
PhosphoSite	Q9HB58.
Polymorphism databases
DMDM	209572781.
Proteomic databases
PaxDb	Q9HB58.
PRIDE	Q9HB58.
Protocols and materials databases
DNASU	3431.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000258381; ENSP00000258381; ENSG00000135899. ENST00000258382; ENSP00000258382; ENSG00000135899. ENST00000358662; ENSP00000351488; ENSG00000135899. ENST00000540870; ENSP00000439558; ENSG00000135899.
GeneID	3431.
KEGG	hsa:3431.
UCSC	uc002vqg.3. human. uc002vqh.3. human. uc010fxj.3. human. uc010fxk.3. human.
Organism-specific databases
CTD	3431.
GeneCards	GC02M230997.
HGNC	HGNC:5401. SP110.
HPA	HPA047036.
MIM	235550. phenotype. 604457. gene.
neXtProt	NX_Q9HB58.
Orphanet	79124. Hepatic veno-occlusive disease - immunodeficiency.
PharmGKB	PA35104.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG306672.
HOGENOM	HOG000089984.
HOVERGEN	HBG006294.
OMA	DGTSEMN.
Gene expression databases
ArrayExpress	Q9HB58.
Bgee	Q9HB58.
CleanEx	HS_SP110.
Genevestigator	Q9HB58.
GermOnline	ENSG00000135899. Homo sapiens.
Family and domain databases
Gene3D	1.20.920.10. 1 hit. 3.10.390.10. 1 hit. 3.30.40.10. 1 hit.
InterPro	IPR001487. Bromodomain. IPR000770. SAND_dom. IPR010919. SAND_dom-like. IPR004865. Sp100. IPR019786. Zinc_finger_PHD-type_CS. IPR001965. Znf_PHD. IPR019787. Znf_PHD-finger. IPR013083. Znf_RING/FYVE/PHD. [Graphical view]
Pfam	PF01342. SAND. 1 hit. PF03172. Sp100. 1 hit. [Graphical view]
SMART	SM00297. BROMO. 1 hit. SM00249. PHD. 1 hit. SM00258. SAND. 1 hit. [Graphical view]
SUPFAM	SSF47370. Bromodomain. 1 hit. SSF63763. SAND_like. 1 hit.
PROSITE	PS00633. BROMODOMAIN_1. False negative. PS50014. BROMODOMAIN_2. False negative. PS51414. HSR. 1 hit. PS50864. SAND. 1 hit. PS01359. ZF_PHD_1. 1 hit. PS50016. ZF_PHD_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	3431.
NextBio	13528.
SOURCE	Search...

Entry information

Entry name

SP110_HUMAN

Accession

Primary (citable) accession number: Q9HB58
Secondary accession number(s): B4DVI4 , F5H1M1, Q14976, Q14977, Q53TG2, Q8WUZ6, Q9HCT8

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 2, 2002
Last sequence update:	November 30, 2010
Last modified:	May 1, 2013
This is version 122 of the entry and version 5 of the sequence. [Complete history]

Entry status

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.