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Q9H930

- SP14L_HUMAN

UniProt

Q9H930 - SP14L_HUMAN

Protein

Nuclear body protein SP140-like protein

Gene

SP140L

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 3 (22 Feb 2012)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri403 – 44947PHD-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. zinc ion binding Source: InterPro

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Nuclear body protein SP140-like protein
    Gene namesi
    Name:SP140L
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:25105. SP140L.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: InterPro

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164726206.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 580580Nuclear body protein SP140-like proteinPRO_0000321936Add
    BLAST

    Proteomic databases

    MaxQBiQ9H930.
    PaxDbiQ9H930.
    PRIDEiQ9H930.

    PTM databases

    PhosphoSiteiQ9H930.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9H930.
    BgeeiQ9H930.
    CleanExiHS_SP140L.
    GenevestigatoriQ9H930.

    Organism-specific databases

    HPAiHPA055864.

    Interactioni

    Protein-protein interaction databases

    BioGridi125019. 3 interactions.
    STRINGi9606.ENSP00000397911.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H930.
    SMRiQ9H930. Positions 293-377, 400-571.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini33 – 149117HSRPROSITE-ProRule annotationAdd
    BLAST
    Domaini293 – 37482SANDPROSITE-ProRule annotationAdd
    BLAST
    Domaini484 – 55471BromoPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 bromo domain.PROSITE-ProRule annotation
    Contains 1 HSR domain.PROSITE-ProRule annotation
    Contains 1 PHD-type zinc finger.PROSITE-ProRule annotation
    Contains 1 SAND domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri403 – 44947PHD-typePROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Zinc-finger

    Phylogenomic databases

    eggNOGiNOG300534.
    HOGENOMiHOG000089984.
    OMAiCDTCSRA.
    OrthoDBiEOG7G1V5G.
    PhylomeDBiQ9H930.
    TreeFamiTF335091.

    Family and domain databases

    Gene3Di1.20.920.10. 1 hit.
    3.10.390.10. 1 hit.
    3.30.40.10. 1 hit.
    InterProiIPR001487. 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]
    PfamiPF00439. Bromodomain. 1 hit.
    PF00628. PHD. 1 hit.
    PF01342. SAND. 1 hit.
    PF03172. Sp100. 1 hit.
    [Graphical view]
    SMARTiSM00297. BROMO. 1 hit.
    SM00249. PHD. 1 hit.
    SM00258. SAND. 1 hit.
    [Graphical view]
    SUPFAMiSSF47370. SSF47370. 1 hit.
    SSF57903. SSF57903. 1 hit.
    SSF63763. SSF63763. 1 hit.
    PROSITEiPS50014. BROMODOMAIN_2. 1 hit.
    PS51414. HSR. 1 hit.
    PS50864. SAND. 1 hit.
    PS01359. ZF_PHD_1. 1 hit.
    PS50016. ZF_PHD_2. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 4 (identifier: Q9H930-4) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MAGGGSDLST RGLNGGVSQV ANEMNHLPAH SQSLQRLFTE DQDVDEGLVY    50
    DTVFKHFKRH KLEISNAIKK TFPFLEGLRD RELITNKMFE DSEDSCRNLV 100
    PVQRVVYNVL SELEKTFNLS VLEALFSEVN MQEYPDLIHI YKSFKNAIQD 150
    KLSFQESDRK EREERPDIKL SLKQGEVPES PEARKESDQA CGKMDTVDIA 200
    NNSTLGKPKR KRRKKKGHGW SRMGTRTQKN NQQNDNSKAD GQLVSSEKKA 250
    NMNLKDLSKI RGRKRGKPGT HFTQSDRAPQ KRVRSRASRK HKDETVDFQA 300
    PLLPVTCGGV KGILHKEKLE QGTLAKCIQT EDGKWFTPME FEIKGGYARS 350
    KNWRLSVRCG GWPLRRLMEE GSLPNPPRIY YRNKKRILKS QNNSSVDPCM 400
    RNLDECEVCR DGGELFCCDT CSRVFHEDCH IPPVESEKTP WNCIFCRMKE 450
    SPGSQQCCQE SEVLERQMCP EEQLKCEFLL LKVYCCSESS FFAKIPYYYY 500
    IREACQGLKE PMWLDKIKKR LNEHGYPQVE GFVQDMRLIF QNHRASYKYK 550
    DFGQMGLRLE AEFEKDFKEV FAIQETNGNS 580
    Length:580
    Mass (Da):67,005
    Last modified:February 22, 2012 - v3
    Checksum:iC79CABFD2E1D6FB0
    GO
    Isoform 1 (identifier: Q9H930-1) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         430-580: HIPPVESEKT...FAIQETNGNS → HIPPVESEK

    Show »
    Length:438
    Mass (Da):50,075
    Checksum:i5E35B3DED0DD61D7
    GO
    Isoform 2 (identifier: Q9H930-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         287-321: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:545
    Mass (Da):63,150
    Checksum:i3918E36F255E536F
    GO
    Isoform 3 (identifier: Q9H930-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-87: Missing.
         213-216: RKKK → SKNK
         217-580: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:129
    Mass (Da):14,926
    Checksum:i9FABEBF35962DD64
    GO

    Sequence cautioni

    The sequence BAB14413.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAX88869.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti223 – 2231M → T in BAB14413. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti88 – 881M → T.
    Corresponds to variant rs4973318 [ dbSNP | Ensembl ].
    VAR_059144
    Natural varianti225 – 2251T → M.
    Corresponds to variant rs28497362 [ dbSNP | Ensembl ].
    VAR_059145
    Natural varianti377 – 3771P → S.
    Corresponds to variant rs7590429 [ dbSNP | Ensembl ].
    VAR_059146

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 8787Missing in isoform 3. 1 PublicationVSP_031830Add
    BLAST
    Alternative sequencei213 – 2164RKKK → SKNK in isoform 3. 1 PublicationVSP_031831
    Alternative sequencei217 – 580364Missing in isoform 3. 1 PublicationVSP_031832Add
    BLAST
    Alternative sequencei287 – 32135Missing in isoform 2. 1 PublicationVSP_031833Add
    BLAST
    Alternative sequencei430 – 580151HIPPV…TNGNS → HIPPVESEK in isoform 1. 1 PublicationVSP_040889Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC009949 Genomic DNA. Translation: AAX88869.1. Sequence problems.
    BC004921 mRNA. Translation: AAH04921.1.
    BC105007 mRNA. No translation available.
    BQ690359 mRNA. No translation available.
    AK023116 mRNA. Translation: BAB14413.1. Different initiation.
    CCDSiCCDS46538.1. [Q9H930-4]
    RefSeqiNP_612411.4. NM_138402.4. [Q9H930-4]
    XP_006712918.1. XM_006712855.1. [Q9H930-2]
    UniGeneiHs.589661.

    Genome annotation databases

    EnsembliENST00000243810; ENSP00000243810; ENSG00000185404. [Q9H930-1]
    ENST00000415673; ENSP00000397911; ENSG00000185404. [Q9H930-4]
    ENST00000444636; ENSP00000395195; ENSG00000185404. [Q9H930-1]
    ENST00000458341; ENSP00000395223; ENSG00000185404. [Q9H930-3]
    GeneIDi93349.
    KEGGihsa:93349.
    UCSCiuc010fxm.1. human. [Q9H930-4]
    uc010fxn.2. human. [Q9H930-3]

    Polymorphism databases

    DMDMi378405242.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC009949 Genomic DNA. Translation: AAX88869.1 . Sequence problems.
    BC004921 mRNA. Translation: AAH04921.1 .
    BC105007 mRNA. No translation available.
    BQ690359 mRNA. No translation available.
    AK023116 mRNA. Translation: BAB14413.1 . Different initiation.
    CCDSi CCDS46538.1. [Q9H930-4 ]
    RefSeqi NP_612411.4. NM_138402.4. [Q9H930-4 ]
    XP_006712918.1. XM_006712855.1. [Q9H930-2 ]
    UniGenei Hs.589661.

    3D structure databases

    ProteinModelPortali Q9H930.
    SMRi Q9H930. Positions 293-377, 400-571.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125019. 3 interactions.
    STRINGi 9606.ENSP00000397911.

    PTM databases

    PhosphoSitei Q9H930.

    Polymorphism databases

    DMDMi 378405242.

    Proteomic databases

    MaxQBi Q9H930.
    PaxDbi Q9H930.
    PRIDEi Q9H930.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000243810 ; ENSP00000243810 ; ENSG00000185404 . [Q9H930-1 ]
    ENST00000415673 ; ENSP00000397911 ; ENSG00000185404 . [Q9H930-4 ]
    ENST00000444636 ; ENSP00000395195 ; ENSG00000185404 . [Q9H930-1 ]
    ENST00000458341 ; ENSP00000395223 ; ENSG00000185404 . [Q9H930-3 ]
    GeneIDi 93349.
    KEGGi hsa:93349.
    UCSCi uc010fxm.1. human. [Q9H930-4 ]
    uc010fxn.2. human. [Q9H930-3 ]

    Organism-specific databases

    CTDi 93349.
    GeneCardsi GC02P231191.
    HGNCi HGNC:25105. SP140L.
    HPAi HPA055864.
    neXtProti NX_Q9H930.
    PharmGKBi PA164726206.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG300534.
    HOGENOMi HOG000089984.
    OMAi CDTCSRA.
    OrthoDBi EOG7G1V5G.
    PhylomeDBi Q9H930.
    TreeFami TF335091.

    Miscellaneous databases

    GenomeRNAii 93349.
    NextBioi 78053.
    PROi Q9H930.

    Gene expression databases

    ArrayExpressi Q9H930.
    Bgeei Q9H930.
    CleanExi HS_SP140L.
    Genevestigatori Q9H930.

    Family and domain databases

    Gene3Di 1.20.920.10. 1 hit.
    3.10.390.10. 1 hit.
    3.30.40.10. 1 hit.
    InterProi IPR001487. 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 ]
    Pfami PF00439. Bromodomain. 1 hit.
    PF00628. PHD. 1 hit.
    PF01342. SAND. 1 hit.
    PF03172. Sp100. 1 hit.
    [Graphical view ]
    SMARTi SM00297. BROMO. 1 hit.
    SM00249. PHD. 1 hit.
    SM00258. SAND. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47370. SSF47370. 1 hit.
    SSF57903. SSF57903. 1 hit.
    SSF63763. SSF63763. 1 hit.
    PROSITEi PS50014. BROMODOMAIN_2. 1 hit.
    PS51414. HSR. 1 hit.
    PS50864. SAND. 1 hit.
    PS01359. ZF_PHD_1. 1 hit.
    PS50016. ZF_PHD_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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].
    2. "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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 181-580 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 430-580 (ISOFORM 4).
      Tissue: Brain.
    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] OF 172-580 (ISOFORM 1).
      Tissue: Teratocarcinoma.

    Entry informationi

    Entry nameiSP14L_HUMAN
    AccessioniPrimary (citable) accession number: Q9H930
    Secondary accession number(s): Q2M375, Q4ZG65, Q9BSP3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 26, 2008
    Last sequence update: February 22, 2012
    Last modified: October 1, 2014
    This is version 99 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3