P78539 (SRPX_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sushi repeat-containing protein SRPX

Gene names

Name:	SRPX
Synonyms:	ETX1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	464 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction.
Subcellular location	Cell surface Probable. Note: Possibly surface of photoreceptor cell.
Tissue specificity	Retina and heart; less in placenta, pancreas, lung, liver, skeletal muscle, kidney and brain.
Sequence similarities	Contains 1 HYR domain. Contains 3 Sushi (CCP/SCR) domains.

Ontologies

Keywords
Biological process	Cell adhesion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Signal Sushi
PTM	Disulfide bond
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cell surface Inferred from direct assay. Source: UniProtKB membrane Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: P78539-1)

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: P78539-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: MGSPAHRPAL...EVGYSHPRYK → MDFDVGRTTH...RRCLIGESGH

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 30	30	Potential
	Chain	31 – 464	434	Sushi repeat-containing protein SRPX		PRO_0000022416
Regions
	Domain	57 – 117	61	Sushi 1
	Domain	118 – 176	59	Sushi 2
	Domain	177 – 259	83	HYR
	Domain	260 – 319	60	Sushi 3
Amino acid modifications
	Disulfide bond	57 ↔ 85		By similarity
	Disulfide bond	69 ↔ 103		By similarity
	Disulfide bond	89 ↔ 115		By similarity
	Disulfide bond	120 ↔ 161		By similarity
	Disulfide bond	147 ↔ 174		By similarity
	Disulfide bond	262 ↔ 304		By similarity
	Disulfide bond	290 ↔ 317		By similarity
Natural variations
	Alternative sequence	1 – 52	52	MGSPA…HPRYK → MDFDVGRTTHLSSSPCSASN GGESGQVSKRRCLIGESGH in isoform 2.		VSP_004430
	Natural variant	23	1	Missing.		VAR_005624
	Natural variant	225	1	P → S. Ref.2 Corresponds to variant rs1123773 [ dbSNP | Ensembl ].		VAR_005625
	Natural variant	413	1	S → F. Ref.2 Corresponds to variant rs35318931 [ dbSNP | Ensembl ].		VAR_005626
Experimental info
	Sequence conflict	170 – 178	9	RPASCVDME → ASLLCGYG in AAB40715. Ref.3
	Sequence conflict	202	1	Missing in AAB40715. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 1997. Version 1. Checksum: 9CD5E57BC2848680	FASTA	464	51,572
	10 20 30 40 50 60 MGSPAHRPAL LLLLPPLLLL LLLRVPPSRS FPGSGDSPLE DDEVGYSHPR YKDTPWCSPI 70 80 90 100 110 120 KVKYGDVYCR APQGGYYKTA LGTRCDIRCQ KGYELHGSSL LICQSNKRWS DKVICKQKRC 130 140 150 160 170 180 PTLAMPANGG FKCVDGAYFN SRCEYYCSPG YTLKGERTVT CMDNKAWSGR PASCVDMEPP 190 200 210 220 230 240 RIKCPSVKER IAEPNKLTVR VSWETPEGRD TADGILTDVI LKGLPPGSNF PEGDHKIQYT 250 260 270 280 290 300 VYDRAENKGT CKFRVKVRVK RCGKLNAPEN GYMKCSSDGD NYGATCEFSC IGGYELQGSP 310 320 330 340 350 360 ARVCQSNLAW SGTEPTCAAM NVNVGVRTAA ALLDQFYEKR RLLIVSTPTA RNLLYRLQLG 370 380 390 400 410 420 MLQQAQCGLD LRHITVVELV GVFPTLIGRI GAKIMPPALA LQLRLLLRIP LYSFSMVLVD 430 440 450 460 KHGMDKERYV SLVMPVALFN LIDTFPLRKE EMVLQAEMSQ TCNT
	Isoform 2 [UniParc]. Checksum: AAE97A096B950609	FASTA	451	49,934
	10 20 30 40 50 60 MDFDVGRTTH LSSSPCSASN GGESGQVSKR RCLIGESGHD TPWCSPIKVK YGDVYCRAPQ 70 80 90 100 110 120 GGYYKTALGT RCDIRCQKGY ELHGSSLLIC QSNKRWSDKV ICKQKRCPTL AMPANGGFKC 130 140 150 160 170 180 VDGAYFNSRC EYYCSPGYTL KGERTVTCMD NKAWSGRPAS CVDMEPPRIK CPSVKERIAE 190 200 210 220 230 240 PNKLTVRVSW ETPEGRDTAD GILTDVILKG LPPGSNFPEG DHKIQYTVYD RAENKGTCKF 250 260 270 280 290 300 RVKVRVKRCG KLNAPENGYM KCSSDGDNYG ATCEFSCIGG YELQGSPARV CQSNLAWSGT 310 320 330 340 350 360 EPTCAAMNVN VGVRTAAALL DQFYEKRRLL IVSTPTARNL LYRLQLGMLQ QAQCGLDLRH 370 380 390 400 410 420 ITVVELVGVF PTLIGRIGAK IMPPALALQL RLLLRIPLYS FSMVLVDKHG MDKERYVSLV 430 440 450 MPVALFNLID TFPLRKEEMV LQAEMSQTCN T

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients with X-linked retinitis pigmentosa." Meindl A., Carvalho M.R.S., Herrmann K., Lorenz B., Achatz H., Lorenz B., Apfelstedt-Sylla E., Wittwer B., Ross M., Meitinger T. Hum. Mol. Genet. 4:2339-2346(1995) [PubMed: 8634708] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3)." Dry K.L., Aldred M.A., Edgar A.J., Brown J., Manson F.D., Ho M.-F., Prosser J., Hardwick L.J., Lennon A.A., Thomson K., van Keuren M., Kurnit D.M., Bird A.C., Jay M., Monaco A.P., Wright A.F. Hum. Mol. Genet. 4:2347-2353(1995) [PubMed: 8634709] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING, VARIANTS LEU-23 DEL; SER-225 AND PHE-413.
[3]	"Cloning of a new human gene with short consensus repeats using the EST database." Nangaku M., Shankland S.J., Kurokawa K., Bomsztyk K., Johnson R.J., Couser W.G. Immunogenetics 46:99-103(1997) [PubMed: 9162095] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT LEU-23 DEL.
[4]	"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].
[5]	"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] (ISOFORM 1). Tissue: Placenta.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U78093 mRNA. Translation: AAB36685.1. S82496 Genomic DNA. Translation: AAB37378.1. S82496 Genomic DNA. Translation: AAB37379.1. U61374 mRNA. Translation: AAB40715.1. AL606748 , AL121578, AL133494, AL627246 Genomic DNA. Translation: CAI95406.1. BC020684 mRNA. Translation: AAH20684.1.
IPI	IPI00215899. IPI00289795.
RefSeq	NP_006298.1. NM_006307.4.
UniGene	Hs.15154.
3D structure databases
ProteinModelPortal	P78539.
SMR	P78539. Positions 56-326.
ModBase	Search...
Protein-protein interaction databases
IntAct	P78539. 4 interactions.
STRING	P78539.
Polymorphism databases
DMDM	2498958.
Proteomic databases
PRIDE	P78539.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000378533; ENSP00000367794; ENSG00000101955.
GeneID	8406.
KEGG	hsa:8406.
UCSC	uc004ddy.1. human. uc004ddz.1. human.
Organism-specific databases
CTD	8406.
GeneCards	GC0XM038009.
H-InvDB	HIX0016726.
HGNC	HGNC:11309. SRPX.
HPA	HPA001256.
MIM	300187. gene.
neXtProt	NX_P78539.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG08924.
GeneTree	ENSGT00580000081587.
HOGENOM	HBG403064.
HOVERGEN	HBG007217.
InParanoid	P78539.
OMA	KGYELHG.
OrthoDB	EOG4DZ1VD.
PhylomeDB	P78539.
Gene expression databases
ArrayExpress	P78539.
Bgee	P78539.
CleanEx	HS_SRPX.
Genevestigator	P78539.
GermOnline	ENSG00000101955. Homo sapiens.
Family and domain databases
InterPro	IPR016060. Complement_control_module. IPR003410. Hyalin. IPR000436. Sushi_SCR_CCP. [Graphical view]
Gene3D	G3DSA:2.10.70.10. Complement_control_module. 3 hits.
Pfam	PF02494. HYR. 1 hit. PF00084. Sushi. 3 hits. [Graphical view]
SMART	SM00032. CCP. 3 hits. [Graphical view]
SUPFAM	SSF57535. Complement_control_module. 3 hits.
PROSITE	PS50825. HYR. 1 hit. PS50923. SUSHI. 3 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	31468.
SOURCE	Search...

Entry information

Entry name

SRPX_HUMAN

Accession

Primary (citable) accession number: P78539
Secondary accession number(s): Q4VX66, Q99652, Q99913

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	May 1, 1997
Last modified:	January 25, 2012
This is version 104 of the entry and version 1 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.