• Gene id: 79801

Gene Summary

• Gene Symbol: SHCBP1   Gene   UCSC   Ensembl
• Aliases: PAL
• Gene name: SHC binding and spindle associated 1
• Alternate names: SHC SH2 domain-binding protein 1, Protein expressed in Activated Lymphocytes,
• Gene location: 16q11.2 (46621378: 46578590)     Exons: 15     NC_000016.10
• OMIM: 611027

Protein Summary

• Protein general information: Q8NEM2  
  • Name: SHC SH2 domain binding protein 1
  • Length: 672  
  • Mass: 75690
• Sequence:

  MADGSLTGGGLEAAAMAPERMGWAVEQELASLEKGLFQDEDSCSDCSYRDKPGSSLQSFMPEGKTFFPEIFQTNQ
  LLFYERFRAYQDYILADCKASEVQEFTAEFLEKVLEPSGWRAVWHTNVFKVLVEITDVDFAALKAVVRLAEPYLC
  DSQVSTFTMECMKELLDLKEHRLPLQELWVVFDDSGVFDQTALAIEHVRFFYQNIWRSWDEEEEDEYDYFVRCVE
  PRLRLHYDILEDRVPSGLIVDYHNLLSQCEESYRKFLNLRSSLSNCNSDSEQENISMVEGLKLYSEMEQLKQKLK
  LIENPLLRYVFGYQKNSNIQAKGVRSSGQKITHVVSSTMMAGLLRSLLTDRLCQEPGEEEREIQFHSDPLSAINA
  CFEGDTVIVCPGHYVVHGTFSIADSIELEGYGLPDDIVIEKRGKGDTFVDCTGADIKISGIKFVQHDAVEGILIV
  HRGKTTLENCVLQCETTGVTVRTSAEFLMKNSDLYGAKGAGIEIYPGSQCTLSDNGIHHCKEGILIKDFLDEHYD
  IPKISMVNNIIHNNEGYGVVLVKPTIFSDLQENAEDGTEENKALKIQTSGEPDVAERVDLEELIECATGKMELCA
  RTDPSEQVEGNCEIVNELIAASTQKGQIKKKRLSELGITQADDNLMSQEMFVGIVGNQFKWNGKGSFGTFLF

• Structural information:
  • Interpro: IPR039448  IPR006626  IPR012334  IPR011050  
  • STRING: ENSP00000306473
• Other Databases: GeneCards:  SHCBP1  Malacards:  SHCBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008543	fibroblast growth factor receptor signaling pathway	IBA	biological process
GO:2000177	regulation of neural precursor cell proliferation	ISS	biological process
GO:0008543	fibroblast growth factor receptor signaling pathway	ISS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042169	SH2 domain binding	IEA	molecular function
GO:0008543	fibroblast growth factor receptor signaling pathway	IEA	biological process
GO:2000177	regulation of neural precursor cell proliferation	IEA	biological process
GO:0005819	spindle	IEA	cellular component
GO:0030496	midbody	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray