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Q9H930 (SP14L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Nuclear body protein SP140-like protein
Gene names
Name:SP140L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length580 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence similarities

Contains 1 bromo domain.

Contains 1 HSR domain.

Contains 1 PHD-type zinc finger.

Contains 1 SAND domain.

Sequence caution

The sequence AAX88869.1 differs from that shown. Reason: Erroneous gene model prediction.

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

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainZinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentnucleus

Inferred from electronic annotation. Source: InterPro

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

zinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 4 (identifier: Q9H930-4)

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 1 (identifier: Q9H930-1)

The sequence of this isoform differs from the canonical sequence as follows:
     430-580: HIPPVESEKT...FAIQETNGNS → HIPPVESEK
Isoform 2 (identifier: Q9H930-2)

The sequence of this isoform differs from the canonical sequence as follows:
     287-321: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9H930-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 580580Nuclear body protein SP140-like protein
PRO_0000321936

Regions

Domain33 – 149117HSR
Domain293 – 37482SAND
Domain484 – 55471Bromo
Zinc finger403 – 44947PHD-type

Natural variations

Alternative sequence1 – 8787Missing in isoform 3.
VSP_031830
Alternative sequence213 – 2164RKKK → SKNK in isoform 3.
VSP_031831
Alternative sequence217 – 580364Missing in isoform 3.
VSP_031832
Alternative sequence287 – 32135Missing in isoform 2.
VSP_031833
Alternative sequence430 – 580151HIPPV…TNGNS → HIPPVESEK in isoform 1.
VSP_040889
Natural variant881M → T.
Corresponds to variant rs4973318 [ dbSNP | Ensembl ].
VAR_059144
Natural variant2251T → M.
Corresponds to variant rs28497362 [ dbSNP | Ensembl ].
VAR_059145
Natural variant3771P → S.
Corresponds to variant rs7590429 [ dbSNP | Ensembl ].
VAR_059146

Experimental info

Sequence conflict2231M → T in BAB14413. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 4 [UniParc].

Last modified February 22, 2012. Version 3.
Checksum: C79CABFD2E1D6FB0

FASTA58067,005
        10         20         30         40         50         60 
MAGGGSDLST RGLNGGVSQV ANEMNHLPAH SQSLQRLFTE DQDVDEGLVY DTVFKHFKRH 

        70         80         90        100        110        120 
KLEISNAIKK TFPFLEGLRD RELITNKMFE DSEDSCRNLV PVQRVVYNVL SELEKTFNLS 

       130        140        150        160        170        180 
VLEALFSEVN MQEYPDLIHI YKSFKNAIQD KLSFQESDRK EREERPDIKL SLKQGEVPES 

       190        200        210        220        230        240 
PEARKESDQA CGKMDTVDIA NNSTLGKPKR KRRKKKGHGW SRMGTRTQKN NQQNDNSKAD 

       250        260        270        280        290        300 
GQLVSSEKKA NMNLKDLSKI RGRKRGKPGT HFTQSDRAPQ KRVRSRASRK HKDETVDFQA 

       310        320        330        340        350        360 
PLLPVTCGGV KGILHKEKLE QGTLAKCIQT EDGKWFTPME FEIKGGYARS KNWRLSVRCG 

       370        380        390        400        410        420 
GWPLRRLMEE GSLPNPPRIY YRNKKRILKS QNNSSVDPCM RNLDECEVCR DGGELFCCDT 

       430        440        450        460        470        480 
CSRVFHEDCH IPPVESEKTP WNCIFCRMKE SPGSQQCCQE SEVLERQMCP EEQLKCEFLL 

       490        500        510        520        530        540 
LKVYCCSESS FFAKIPYYYY IREACQGLKE PMWLDKIKKR LNEHGYPQVE GFVQDMRLIF 

       550        560        570        580 
QNHRASYKYK DFGQMGLRLE AEFEKDFKEV FAIQETNGNS 

« Hide

Isoform 1 [UniParc].

Checksum: 5E35B3DED0DD61D7
Show »

FASTA43850,075
Isoform 2 [UniParc].

Checksum: 3918E36F255E536F
Show »

FASTA54563,150
Isoform 3 [UniParc].

Checksum: 9FABEBF35962DD64
Show »

FASTA12914,926

References

[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. 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].
[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. 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] OF 172-580 (ISOFORM 1).
Tissue: Teratocarcinoma.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS46538.1. [Q9H930-4]
RefSeqNP_612411.4. NM_138402.4. [Q9H930-4]
XP_006712918.1. XM_006712855.1. [Q9H930-2]
UniGeneHs.589661.

3D structure databases

ProteinModelPortalQ9H930.
SMRQ9H930. Positions 293-377, 400-571.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125019. 3 interactions.
STRING9606.ENSP00000397911.

PTM databases

PhosphoSiteQ9H930.

Polymorphism databases

DMDM378405242.

Proteomic databases

MaxQBQ9H930.
PaxDbQ9H930.
PRIDEQ9H930.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000243810; ENSP00000243810; ENSG00000185404. [Q9H930-1]
ENST00000415673; ENSP00000397911; ENSG00000185404. [Q9H930-4]
ENST00000444636; ENSP00000395195; ENSG00000185404. [Q9H930-1]
ENST00000458341; ENSP00000395223; ENSG00000185404. [Q9H930-3]
GeneID93349.
KEGGhsa:93349.
UCSCuc010fxm.1. human. [Q9H930-4]
uc010fxn.2. human. [Q9H930-3]

Organism-specific databases

CTD93349.
GeneCardsGC02P231191.
HGNCHGNC:25105. SP140L.
HPAHPA055864.
neXtProtNX_Q9H930.
PharmGKBPA164726206.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG300534.
HOGENOMHOG000089984.
OMACDTCSRA.
OrthoDBEOG7G1V5G.
PhylomeDBQ9H930.
TreeFamTF335091.

Gene expression databases

ArrayExpressQ9H930.
BgeeQ9H930.
CleanExHS_SP140L.
GenevestigatorQ9H930.

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]
PfamPF00439. Bromodomain. 1 hit.
PF00628. PHD. 1 hit.
PF01342. 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.
PROSITEPS50014. 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]
ProtoNetSearch...

Other

GenomeRNAi93349.
NextBio78053.
PROQ9H930.

Entry information

Entry nameSP14L_HUMAN
AccessionPrimary (citable) accession number: Q9H930
Secondary accession number(s): Q2M375, Q4ZG65, Q9BSP3
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: February 22, 2012
Last modified: July 9, 2014
This is version 98 of the entry and version 3 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

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