Reviewed, UniProtKB/Swiss-Prot Q02040 (SF17A_HUMAN)

Names and origin

Protein names

Recommended name:
    Splicing factor, arginine/serine-rich 17A
Alternative name(s):
    Protein XE7
    B-lymphocyte antigen
    721P

Gene names

Name:	SFRS17A
Synonyms:	CXYorf3, DXYS155E, XE7

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	695 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Splice factor regulating alternative splice site selection for certain mRNA precursors. Ref.8
Subunit structure	Monomer. Component of the spliceosome. Interacts with ZRANB2 and SFRS1/ASF through its Arg/Ser-rich domain. Ref.8
Subcellular location	Nucleus speckle Ref.8.
Tissue specificity	Widely expressed. Found in heart, brain, lung, liver, skeletal muscle, kidney and pancreas. Expressed in activated B-cells and placenta.
Miscellaneous	The gene encoding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
Sequence similarities	Contains 1 RRM (RNA recognition motif) domain.
Caution	Was originally (Ref.2) thought to be a cell surface protein involved in B-cell activation.
Sequence caution	The sequence AAA36187.1 differs from that shown. Reason: Frameshift at position 461.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Nucleus Spliceosome
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	RNA-binding
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	B cell activation Ref.2 Non-traceable author statement. Source: UniProtKB RNA splicing Inferred from electronic annotation. Source: UniProtKB-KW mRNA processing Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Ref.2 Non-traceable author statement. Source: UniProtKB signal transduction Ref.2 Non-traceable author statement. Source: UniProtKB
Cellular component	nuclear speck Inferred from electronic annotation. Source: UniProtKB-SubCell spliceosomal complex Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	RNA binding Inferred from electronic annotation. Source: UniProtKB-KW protein binding Ref.8 Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
EIF4A2	Q14240	1	EBI-1042725,EBI-73473
ZRANB2	O95218	2	EBI-1042725,EBI-1051583

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q02040-1)

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: Q02040-2)

The sequence of this isoform differs from the canonical sequence as follows:
     385-385: A → L
     386-695: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoform 3 (identifier: Q02040-3)

The sequence of this isoform differs from the canonical sequence as follows:
     385-445: AVKLREQEQK...ERLLSILLSK → VGGSLCSRQP...EGVALVCRSR
     446-695: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 695	695	Splicing factor, arginine/serine-rich 17A		PRO_0000022692
Regions
	Domain	147 – 256	110	RRM
	Compositional bias	587 – 695	109	Arg-rich
Amino acid modifications
	Modified residue	537	1	Phosphoserine Ref.7 Ref.9 Ref.10
	Modified residue	633	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	385 – 445	61	AVKLR…ILLSK → VGGSLCSRQPRPGCPQCPPL KCGRRHGAVSPPAAAVATKP ALMPRMTAPSREGVALVCRS R in isoform 3.		VSP_024947
	Alternative sequence	385	1	A → L in isoform 2.		VSP_004490
	Alternative sequence	386 – 695	310	Missing in isoform 2.		VSP_004491
	Alternative sequence	446 – 695	250	Missing in isoform 3.		VSP_024948
	Natural variant	194	1	P → S: dbSNP rs17852504. Ref.4		VAR_055353
Experimental info
	Sequence conflict	443	1	L → Q in AAA36187. Ref.2
	Sequence conflict	500	1	P → A in AAA61303. Ref.1
	Sequence conflict	500	1	P → A in AAI10497. Ref.4
	Sequence conflict	502	1	H → P in AAA36187. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2007. Version 2. Checksum: 639E88ECA8006CF2	FASTA	695	80,735
	10 20 30 40 50 60 MAAATIVHDT SEAVELCPAY GLYLKPITKM TISVALPQLK QPGKSISNWE VMERLKGMVQ 70 80 90 100 110 120 NHQFSTLRIS KSTMDFIRFE GEVENKSLVK SFLACLDGKT IKLSGFSDIL KVRAAEFKID 130 140 150 160 170 180 FPTRHDWDSF FRDAKDMNET LPGERPDTIH LEGLPCKWFA LKESGSEKPS EDVLVKVFEK 190 200 210 220 230 240 FGEIRNVDIP MLDPYREEMT GRNFHTFSFG GHLNFEAYVQ YREYMGFIQA MSALRGMKLM 250 260 270 280 290 300 YKGEDGKAVA CNIKVSFDST KHLSDASIKK RQLERQKLQE LEQQREEQKR REKEAEERQR 310 320 330 340 350 360 AEERKQKELE ELERERKREE KLRKREQKQR DRELRRNQKK LEKLQAEEQK QLQEKIKLEE 370 380 390 400 410 420 RKLLLAQRNL QSIRLIAELL SRAKAVKLRE QEQKEEKLRL QQQEERRRLQ EAELRRVEEE 430 440 450 460 470 480 KERALGLQRK ERELRERLLS ILLSKKPDDS HTHDELGVAH ADLLQPVLDI LQTVSSGCVS 490 500 510 520 530 540 ATTLHPLGGQ PPAGAPKESP AHPEADGAPK SVNGSVAEEA PCKEVQSSCR VVPEDGSPEK 550 560 570 580 590 600 RCPGGVLSCI PDNNQQPKGI PACEQNVSRK DTRSEQDKCN REPSKGRGRA TGDGLADRHK 610 620 630 640 650 660 RERSRARRAS SREDGRPRKE RRPHKKHAYK DDSPRRRSTS PDHTRSRRSH SKDRHRRERS 670 680 690 RERRGSASRK HSRHRRRSER SRSRSPSRHR STWNR
	Isoform 2. Checksum: 4C1E253616C969A6	FASTA	385	45,248
	10 20 30 40 50 60 MAAATIVHDT SEAVELCPAY GLYLKPITKM TISVALPQLK QPGKSISNWE VMERLKGMVQ 70 80 90 100 110 120 NHQFSTLRIS KSTMDFIRFE GEVENKSLVK SFLACLDGKT IKLSGFSDIL KVRAAEFKID 130 140 150 160 170 180 FPTRHDWDSF FRDAKDMNET LPGERPDTIH LEGLPCKWFA LKESGSEKPS EDVLVKVFEK 190 200 210 220 230 240 FGEIRNVDIP MLDPYREEMT GRNFHTFSFG GHLNFEAYVQ YREYMGFIQA MSALRGMKLM 250 260 270 280 290 300 YKGEDGKAVA CNIKVSFDST KHLSDASIKK RQLERQKLQE LEQQREEQKR REKEAEERQR 310 320 330 340 350 360 AEERKQKELE ELERERKREE KLRKREQKQR DRELRRNQKK LEKLQAEEQK QLQEKIKLEE 370 380 RKLLLAQRNL QSIRLIAELL SRAKL
	Isoform 3. Checksum: 049E8E08BF58DF27	FASTA	445	51,409
	10 20 30 40 50 60 MAAATIVHDT SEAVELCPAY GLYLKPITKM TISVALPQLK QPGKSISNWE VMERLKGMVQ 70 80 90 100 110 120 NHQFSTLRIS KSTMDFIRFE GEVENKSLVK SFLACLDGKT IKLSGFSDIL KVRAAEFKID 130 140 150 160 170 180 FPTRHDWDSF FRDAKDMNET LPGERPDTIH LEGLPCKWFA LKESGSEKPS EDVLVKVFEK 190 200 210 220 230 240 FGEIRNVDIP MLDPYREEMT GRNFHTFSFG GHLNFEAYVQ YREYMGFIQA MSALRGMKLM 250 260 270 280 290 300 YKGEDGKAVA CNIKVSFDST KHLSDASIKK RQLERQKLQE LEQQREEQKR REKEAEERQR 310 320 330 340 350 360 AEERKQKELE ELERERKREE KLRKREQKQR DRELRRNQKK LEKLQAEEQK QLQEKIKLEE 370 380 390 400 410 420 RKLLLAQRNL QSIRLIAELL SRAKVGGSLC SRQPRPGCPQ CPPLKCGRRH GAVSPPAAAV 430 440 ATKPALMPRM TAPSREGVAL VCRSR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structure and expression of the human pseudoautosomal gene XE7." Ellison J.W., Ramos C., Yen P.H., Shapiro L.J. Hum. Mol. Genet. 1:691-696(1992) [PubMed: 1302606] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Cloning and sequencing of a trophoblast-endothelial-activated lymphocyte surface protein: cDNA sequence and genomic structure." Voland J.R., Wyzykowski R.J., Huang M., Dutton R.W. Proc. Natl. Acad. Sci. U.S.A. 89:10425-10429(1992) [PubMed: 1438229] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Placenta.
[3]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT SER-194. Tissue: Blood.
[5]	"Large-scale proteomic analysis of the human spliceosome." Rappsilber J., Ryder U., Lamond A.I., Mann M. Genome Res. 12:1231-1245(2002) [PubMed: 12176931] [Abstract] Cited for: MASS SPECTROMETRY, IDENTIFICATION IN A COMPLEX WITH THE SPLICEOSOME.
[6]	"An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed: 14759258] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[7]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-537 AND SER-633, MASS SPECTROMETRY. Tissue: Epithelium.
[8]	"XE7: a novel splicing factor that interacts with ASF/SF2 and ZNF265." Mangs A.H., Speirs H.J.L., Goy C., Adams D.J., Markus M.A., Morris B.J. Nucleic Acids Res. 34:4976-4986(2006) [PubMed: 16982639] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH ZRANB2 AND SFRS1.
[9]	"Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-537, MASS SPECTROMETRY.
[10]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-537, MASS SPECTROMETRY.

Cross-references

Sequence databases
EMBL GenBank DDBJ	L03426 mRNA. Translation: AAA61303.1. L03426 mRNA. Translation: AAA61304.1. M99578 mRNA. Translation: AAA36187.1. Frameshift. AL683807 Genomic DNA. Translation: CAI41499.1. AL683807 Genomic DNA. Translation: CAI41501.1. BC028151 mRNA. Translation: AAH28151.1. BC110496 mRNA. Translation: AAI10497.1. BC110497 mRNA. Translation: AAI10498.1.
IPI	IPI00024024. IPI00643565. IPI00845316.
PIR	A46419. I54325.
RefSeq	NP_005079.2.
UniGene	Hs.522572
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q02040. 6 interactions.
STRING	Q02040.
PTM databases
PhosphoSite	Q02040.
Proteomic databases
PRIDE	Q02040.
Genome annotation databases
Ensembl	ENST00000313871; ENSP00000324827; ENSG00000197976; Homo sapiens. [Genome view]
GeneID	8227.
KEGG	hsa:8227.
UCSC	uc004cqa.1. human. uc010ncx.1. human.
Organism-specific databases
CTD	8227.
GeneCards	GC0XP001671.
H-InvDB	HIX0016627.
HGNC	HGNC:18783. SFRS17A.
MIM	312095. gene. 465000. gene.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG278517.
HOVERGEN	Q02040.
InParanoid	Q02040.
OMA	QYREYVG.
OrthoDB	EOG97SW0K.
PhylomeDB	Q02040.
Gene expression databases
ArrayExpress	Q02040.
Bgee	Q02040.
CleanEx	HS_SFRS17A.
Genevestigator	Q02040.
GermOnline	ENSG00000197976. Homo sapiens.
Family and domain databases
PROSITE	PS50102. RRM. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	30970.
SOURCE	Search...

Entry information

Entry name

SF17A_HUMAN

Accession

Primary (citable) accession number: Q02040
Secondary accession number(s): Q02832 , Q2TB98, Q5JQ74, Q5JQ76, Q8N6U9

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1995
Last sequence update:	May 1, 2007
Last modified:	January 19, 2010
This is version 89 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.