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Q9HB58 (SP110_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sp110 nuclear body protein
Alternative name(s):
Interferon-induced protein 41/75
Speckled 110 kDa
Transcriptional coactivator Sp110
Gene names
Name:SP110
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length689 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 689689Sp110 nuclear body protein
PRO_0000074101

Regions

Domain1 – 108108HSR
Domain454 – 53582SAND
Domain581 – 67696Bromo
Zinc finger534 – 58047PHD-type
Region525 – 5295Nuclear hormone receptor interaction Potential
Motif281 – 29414Nuclear localization signal Potential
Motif428 – 44417Nuclear localization signal Potential

Amino acid modifications

Modified residue1751Phosphoserine By similarity
Modified residue1771Phosphoserine By similarity
Modified residue2561Phosphoserine Ref.10 Ref.11

Natural variations

Alternative sequence1 – 251251Missing in isoform 4.
VSP_005991
Alternative sequence1 – 203203Missing in isoform 2.
VSP_005992
Alternative sequence11M → MGRGFRM in isoform 7.
VSP_046079
Alternative sequence252 – 27524IRDNS…TPSDK → MASSGVKNTPRWRRKAPHGR ERKE in isoform 4.
VSP_005994
Alternative sequence300 – 34950Missing in isoform 4.
VSP_005995
Alternative sequence300 – 3034GTAS → AL in isoform 5.
VSP_005996
Alternative sequence531 – 54919RKNSD…QLLCC → SGLLLCPPRINLKRELNSK in isoform 3, isoform 4, isoform 5 and isoform 7.
VSP_005997
Alternative sequence550 – 689140Missing in isoform 3, isoform 4, isoform 5 and isoform 7.
VSP_006000
Alternative sequence6051L → LKCEFLLLKAYCHPQSSFFT GIPFN in isoform 6.
VSP_035593
Alternative sequence606 – 6116IRDYGE → NVSSSS in isoform 2.
VSP_006001
Alternative sequence612 – 68978Missing in isoform 2.
VSP_006002
Natural variant81M → T in a breast cancer sample; somatic mutation. Ref.14
VAR_036029
Natural variant1121W → R. Ref.3 Ref.13
Corresponds to variant rs1129411 [ dbSNP | Ensembl ].
VAR_027170
Natural variant1281A → V. Ref.12
Corresponds to variant rs11556887 [ dbSNP | Ensembl ].
VAR_027171
Natural variant1731S → L.
Corresponds to variant rs41552315 [ dbSNP | Ensembl ].
VAR_047051
Natural variant2061A → V. Ref.12
Corresponds to variant rs28930679 [ dbSNP | Ensembl ].
VAR_027172
Natural variant2071E → K. Ref.3 Ref.12 Ref.13
Corresponds to variant rs9061 [ dbSNP | Ensembl ].
VAR_027173
Natural variant2101S → A.
Corresponds to variant rs1063154 [ dbSNP | Ensembl ].
VAR_047052
Natural variant2121E → G. Ref.13
Corresponds to variant rs1047254 [ dbSNP | Ensembl ].
VAR_027174
Natural variant2491M → V. Ref.13
Corresponds to variant rs3769838 [ dbSNP | Ensembl ].
VAR_027175
Natural variant2671E → G. Ref.13
Corresponds to variant rs1129425 [ dbSNP | Ensembl ].
VAR_027176
Natural variant2991G → R. Ref.1 Ref.2 Ref.3 Ref.6 Ref.12 Ref.13
Corresponds to variant rs1365776 [ dbSNP | Ensembl ].
VAR_027177
Natural variant3671T → M. Ref.12
Corresponds to variant rs59573011 [ dbSNP | Ensembl ].
VAR_027178
Natural variant4251L → 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 variant5231M → T. Ref.2 Ref.13
Corresponds to variant rs1135791 [ dbSNP | Ensembl ].
VAR_027180
Natural variant5791M → I. Ref.13
Corresponds to variant rs3948463 [ dbSNP | Ensembl ].
VAR_027181
Natural variant6831G → S in a breast cancer sample; somatic mutation. Ref.14
VAR_036030

Experimental info

Sequence conflict1671D → T in AAF99318. Ref.2
Sequence conflict1671D → T in AAG09826. Ref.2
Sequence conflict4641L → S in AAA18806. Ref.1
Sequence conflict5701M → I in AK026488. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 30, 2010. Version 5.
Checksum: 31552E1A4C498EF7

FASTA68978,396
        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 

« Hide

Isoform 2 (IFI75) (75) [UniParc].

Checksum: C9AFB49FD426F9F5
Show »

FASTA40846,285
Isoform 3 (Sp110b) [UniParc].

Checksum: A074ED9825817FC3
Show »

FASTA54961,898
Isoform 4 (IFI41) (41) [UniParc].

Checksum: 54B0C13AA73E51E1
Show »

FASTA24828,510
Isoform 5 [UniParc].

Checksum: FA0D7C52A2025D87
Show »

FASTA54761,766
Isoform 6 [UniParc].

Checksum: 146D7A3D0EEB99EA
Show »

FASTA71381,169
Isoform 7 [UniParc].

Checksum: 44866BA4C9BBA7D0
Show »

FASTA55562,603

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[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. expand/collapse author list , 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

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.
CCDSCCDS2474.1. [Q9HB58-1]
CCDS2475.1. [Q9HB58-6]
CCDS2476.1. [Q9HB58-3]
CCDS54435.1. [Q9HB58-7]
PIRA49515.
RefSeqNP_001171944.1. NM_001185015.1. [Q9HB58-7]
NP_004500.3. NM_004509.3.
NP_536349.2. NM_080424.2.
XP_006712549.1. XM_006712486.1. [Q9HB58-6]
UniGeneHs.145150.

3D structure databases

ProteinModelPortalQ9HB58.
SMRQ9HB58. Positions 455-674.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109657. 12 interactions.
IntActQ9HB58. 9 interactions.
MINTMINT-1401836.
STRING9606.ENSP00000258381.

PTM databases

PhosphoSiteQ9HB58.

Polymorphism databases

DMDM313104323.

Proteomic databases

MaxQBQ9HB58.
PaxDbQ9HB58.
PRIDEQ9HB58.

Protocols and materials databases

DNASU3431.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258381; ENSP00000258381; ENSG00000135899. [Q9HB58-6]
ENST00000258382; ENSP00000258382; ENSG00000135899. [Q9HB58-3]
ENST00000358662; ENSP00000351488; ENSG00000135899. [Q9HB58-1]
ENST00000540870; ENSP00000439558; ENSG00000135899. [Q9HB58-7]
GeneID3431.
KEGGhsa:3431.
UCSCuc002vqg.3. human. [Q9HB58-6]
uc002vqh.3. human. [Q9HB58-1]
uc010fxj.3. human. [Q9HB58-4]

Organism-specific databases

CTD3431.
GeneCardsGC02M230997.
GeneReviewsSP110.
HGNCHGNC:5401. SP110.
HPAHPA047036.
MIM235550. phenotype.
604457. gene.
neXtProtNX_Q9HB58.
Orphanet79124. Hepatic veno-occlusive disease - immunodeficiency.
PharmGKBPA35104.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG306672.
HOGENOMHOG000089984.
HOVERGENHBG006294.
OMALITEMYT.
OrthoDBEOG7SR4MV.
PhylomeDBQ9HB58.
TreeFamTF335091.

Gene expression databases

ArrayExpressQ9HB58.
BgeeQ9HB58.
CleanExHS_SP110.
GenevestigatorQ9HB58.

Family and domain databases

Gene3D1.20.920.10. 1 hit.
3.10.390.10. 1 hit.
3.30.40.10. 1 hit.
InterProIPR001487. Bromodomain.
IPR000770. SAND_dom.
IPR010919. SAND_dom-like.
IPR004865. Sp100.
IPR019786. Zinc_finger_PHD-type_CS.
IPR011011. Znf_FYVE_PHD.
IPR001965. Znf_PHD.
IPR019787. Znf_PHD-finger.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamPF01342. SAND. 1 hit.
PF03172. Sp100. 1 hit.
[Graphical view]
SMARTSM00297. BROMO. 1 hit.
SM00249. PHD. 1 hit.
SM00258. SAND. 1 hit.
[Graphical view]
SUPFAMSSF47370. SSF47370. 1 hit.
SSF57903. SSF57903. 1 hit.
SSF63763. SSF63763. 1 hit.
PROSITEPS51414. HSR. 1 hit.
PS50864. SAND. 1 hit.
PS01359. ZF_PHD_1. 1 hit.
PS50016. ZF_PHD_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSP110.
GenomeRNAi3431.
NextBio13528.
PROQ9HB58.
SOURCESearch...

Entry information

Entry nameSP110_HUMAN
AccessionPrimary (citable) accession number: Q9HB58
Secondary accession number(s): B4DVI4 expand/collapse secondary AC list , F5H1M1, Q14976, Q14977, Q53TG2, Q8WUZ6, Q9HCT8
Entry history
Integrated into UniProtKB/Swiss-Prot: August 2, 2002
Last sequence update: November 30, 2010
Last modified: July 9, 2014
This is version 134 of the entry and version 5 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM