SRPX (sushi repeat containing protein X-linked)

Gene

• Entrez ID: 8406
• Gene name: Sushi repeat containing protein X-linked
• Gene symbol: SRPX
• Synonyms (NCBI Gene): DRS, ETX1, HEL-S-83p, SRPX1
• Chromosome: X
• Chromosome location: Xp11.4

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs756386867	C>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030286	hsa-miR-26b-5p	Microarray	19088304
MIRT1389745	hsa-miR-129-5p	CLIP-seq
MIRT1389746	hsa-miR-130a	CLIP-seq
MIRT1389747	hsa-miR-130b	CLIP-seq
MIRT1389748	hsa-miR-186	CLIP-seq
MIRT1389749	hsa-miR-19a	CLIP-seq
MIRT1389750	hsa-miR-19b	CLIP-seq
MIRT1389751	hsa-miR-301a	CLIP-seq
MIRT1389752	hsa-miR-301b	CLIP-seq
MIRT1389753	hsa-miR-302a	CLIP-seq
MIRT1389754	hsa-miR-302b	CLIP-seq
MIRT1389755	hsa-miR-302c	CLIP-seq
MIRT1389756	hsa-miR-302d	CLIP-seq
MIRT1389757	hsa-miR-302e	CLIP-seq
MIRT1389758	hsa-miR-3133	CLIP-seq
MIRT1389759	hsa-miR-3134	CLIP-seq
MIRT1389760	hsa-miR-3666	CLIP-seq
MIRT1389761	hsa-miR-3691-3p	CLIP-seq
MIRT1389762	hsa-miR-372	CLIP-seq
MIRT1389763	hsa-miR-373	CLIP-seq
MIRT1389764	hsa-miR-4295	CLIP-seq
MIRT1389765	hsa-miR-4534	CLIP-seq
MIRT1389766	hsa-miR-454	CLIP-seq
MIRT1389767	hsa-miR-4735-5p	CLIP-seq
MIRT1389768	hsa-miR-4775	CLIP-seq
MIRT1389769	hsa-miR-494	CLIP-seq
MIRT1389770	hsa-miR-518a-5p	CLIP-seq
MIRT1389771	hsa-miR-519a	CLIP-seq
MIRT1389772	hsa-miR-519b-3p	CLIP-seq
MIRT1389773	hsa-miR-519c-3p	CLIP-seq
MIRT1389774	hsa-miR-520a-3p	CLIP-seq
MIRT1389775	hsa-miR-520b	CLIP-seq
MIRT1389776	hsa-miR-520c-3p	CLIP-seq
MIRT1389777	hsa-miR-520d-3p	CLIP-seq
MIRT1389778	hsa-miR-520e	CLIP-seq
MIRT1389779	hsa-miR-527	CLIP-seq
MIRT1389780	hsa-miR-590-3p	CLIP-seq
MIRT2632949	hsa-miR-3145-3p	CLIP-seq
MIRT2632950	hsa-miR-4477b	CLIP-seq
MIRT2632949	hsa-miR-3145-3p	CLIP-seq
MIRT2632950	hsa-miR-4477b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXP2	Activation	20858596
TWIST1	Repression	19051271
TWIST2	Repression	19051271

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001845	Process	Phagolysosome assembly	IBA
GO:0001845	Process	Phagolysosome assembly	IEA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231
GO:0005515	Function	Protein binding	IPI	20406461
GO:0005776	Component	Autophagosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0006914	Process	Autophagy	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	TAS	8634708
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0060244	Process	Negative regulation of cell proliferation involved in contact inhibition	IEA
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

Other IDs

• MIM: 300187
• HGNC: 11309
• e!Ensembl: ENSG00000101955

Protein

• UniProt ID: P78539
• Protein name: Sushi repeat-containing protein SRPX
• Protein function: May be involved in phagocytosis during disk shedding, cell adhesion to cells other than the pigment epithelium or signal transduction.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	57 → 115	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	120 → 174	Sushi repeat (SCR repeat)	Domain
  PF02494	HYR	175 → 257	HYR domain	Domain
  PF00084	Sushi	262 → 317	Sushi repeat (SCR repeat)	Domain
  PF13778	DUF4174	332 → 451	Domain of unknown function (DUF4174)	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in fibroblasts (at protein level) (PubMed:36213313). Retina and heart; less in placenta, pancreas, lung, liver, skeletal muscle, kidney and brain. {ECO:0000269|PubMed:36213313}.
• Sequence:

  MGSPAHRPALLLLLPPLLLLLLLRVPPSRSFPGSGDSPLEDDEVGYSHPRYKDTPWCSPI
  KVKYGDVYCRAPQGGYYKTALGTRCDIRCQKGYELHGSSLLICQSNKRWSDKVICKQKRC
  PTLAMPANGGFKCVDGAYFNSRCEYYCSPGYTLKGERTVTCMDNKAWSGRPASCVDMEPP
  RIKCPSVKERIAEPNKLTVRVSWETPEGRDTADGILTDVILKGLPPGSNFPEGDHKIQYT
  VYDRAENKGTCKFRVKVRVKRCGKLNAPENGYMKCSSDGDNYGATCEFSCIGGYELQGSP
  ARVCQSNLAWSGTEPTCAAMNVNVGVRTAAALLDQFYEKRRLLIVSTPTARNLLYRLQLG
  MLQQAQCGLDLRHITVVELVGVFPTLIGRIGAKIMPPALALQLRLLLRIPLYSFSMVLVD
  KHGMDKERYVSLVMPVALFNLIDTFPLRKEEMVLQAEMSQTCNT

• Sequence length: 464

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Short stature	Likely pathogenic	rs756386867	RCV000736241

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Clear cell carcinoma of kidney	Uncertain significance	rs139698955	RCV005927152

Associations from Text Mining
Disease Name	Relationship Type	References
Adenoma	Associate	19862339
Carcinoma Hepatocellular	Associate	32311840
Endometrial Neoplasms	Associate	34337010
Glaucoma	Associate	19862339
Glucosephosphate Dehydrogenase Deficiency	Inhibit	36675190
Multiple Myeloma	Associate	19690192
Muscular Dystrophy Duchenne	Associate	24190443
Neoplasms	Inhibit	20964819, 30917865, 36675190
Neoplasms	Associate	30008265, 35874760
Prostatic Neoplasms	Associate	30917865
Prostatitis	Associate	30917865
Squamous Cell Carcinoma of Head and Neck	Associate	37270839