• Gene id: 140885

Gene Summary

• Gene Symbol: SIRPA   Gene   UCSC   Ensembl
• Aliases: BIT, CD172A, MFR, MYD-1, P84, PTPNS1, SHPS1, SIRP
• Gene name: signal regulatory protein alpha
• Alternate names: tyrosine-protein phosphatase non-receptor type substrate 1, CD172 antigen-like family member A, brain-immunoglobulin-like molecule with tyrosine-based activation motifs, inhibitory receptor SHPS-1, macrophage fusion receptor, myd-1 antigen, tyrosine phosp,
• Gene location: 20p13 (1894166: 1939894)     Exons: 12     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulat
• OMIM: 602461

SNPs

rs3197744

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.1937841G>T
NC_000020.10   g.1918487G>T
XM_006723545.4   c.*273G>T
XM_005260670.3   c.*273G>T
XM_005260670.1   c.*273G>T
XM_011529173.2   c.*273G>T
NM_080792.2   c.*273G>T
NM_080792.3   c.*273G>T
NM_001330728.1   c.*273G>T
NM_001040022.1   c.*273G>T
NM_0  

Protein Summary

• Protein general information: P78324  
  • Name: Tyrosine protein phosphatase non receptor type substrate 1 (SHP substrate 1) (SHPS 1) (Brain Ig like molecule with tyrosine based activation motifs) (Bit) (CD172 antigen like family member A) (Inhibitory receptor SHPS 1) (Macrophage fusion receptor) (MyD
  • Length: 504  
  • Mass: 54,967
• Sequence:

  MEPAGPAPGRLGPLLCLLLAASCAWSGVAGEEELQVIQPDKSVLVAAGETATLRCTATSLIPVGPIQWFRGAGPG
  RELIYNQKEGHFPRVTTVSDLTKRNNMDFSIRIGNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVRAKPSA
  PVVSGPAARATPQHTVSFTCESHGFSPRDITLKWFKNGNELSDFQTNVDPVGESVSYSIHSTAKVVLTREDVHSQ
  VICEVAHVTLQGDPLRGTANLSETIRVPPTLEVTQQPVRAENQVNVTCQVRKFYPQRLQLTWLENGNVSRTETAS
  TVTENKDGTYNWMSWLLVNVSAHRDDVKLTCQVEHDGQPAVSKSHDLKVSAHPKEQGSNTAAENTGSNERNIYIV
  VGVVCTLLVALLMAALYLVRIRQKKAQGSTSSTRLHEPEKNAREITQDTNDITYADLNLPKGKKPAPQAAEPNNH
  TEYASIQTSPQPASEDTLTYADLDMVHLNRTPKQPAPKPEPSFSEYASVQVPRK

• Structural information:
  • Protein Domains: Ig-like (32-137)
    Ig-like (148-247)
    Ig-like (254-348)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003597  IPR003599   IPR013106  
  • Prosite: PS50835
  • PDB: 2JJS 2JJT 2UV3 2WNG 4CMM 6BIT
  • PDBsum: 2JJS 2JJT 2UV3 2WNG 4CMM 6BIT
  • STRING: ENSP00000348307
• Other Databases: GeneCards:  SIRPA  Malacards:  SIRPA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0050900	leukocyte migration	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0050900	leukocyte migration	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0050900	leukocyte migration	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04380	Osteoclast differentiation

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 24303009
Non obstructive azoospermia	MIK: 24162948
Oligozoospermia	MIK: 24303009
Azoospermia	MIK: 24303009
Cryptorchidism	MIK: 28606200
Non-obstructive azoospermia (NOA)	MIK: 24162948
Sperm number defects	MIK: 29713536
Spermatogenic impairment	MIK: 24303009
Azoospermia	MIK: 24303009
Oligozoospermia	MIK: 24303009
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24162948	Non-obstructive azoospermia (NOA)	SIRPG (rs1048055, rs2281807), SOX5 (rs11046992, rs146039840, SIRPA (chr20. 1902132, chr20. 1902301))		1198 (618 patients with non-obstructive azoospermia (NOA), 580 healthy controls)	Male infertility	SIRPG SIRPA SOX5
24303009	Spermatogenic impairment, azoospermia, oligozoospermia	rs3791185 and rs2232015 in PRMT6, rs146039840 and rs11046992 in Sox5, rs1129332 in PEX10, rs3197744 in SIRPA, rs1048055 in SIRPG		1376 (784 individuals with oligozoospermia, 592 healthy controls)	Male infertility
29713536	Sperm number defects	c.*273G?>?T, c.697G?>?A (p.Val233Ile)			Male infertility	NGS
30863997	Non-obstructive azoospermia	rs6080550	Chinese	1351 (631 infertile men (NOA and oligozoospermia) and 720 healthy fertile men)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq