SHCBP1 - SHC binding and spindle associated 1 Gene

Also Known as PAL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79801

About SHCBP1

Cytogenetic location: 16q11.2 Genomic coordinates (GRCh38): 16:46,578,591-46,621,379 (from NCBI)

This gene has 7 transcripts (splice variants), 143 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 5.2), lymph node (RPKM 5.2) and 25 other tissues.

Summary

Predicted to enable SH2 domain binding activity. Predicted to be involved in Fibroblast Growth Factor receptor signaling pathway and regulation of neural precursor cell proliferation. Predicted to be located in cytoplasm; midbody; and spindle. [provided by Alliance of Genome Resources, Apr 2022]

SHCBP1 Products (3)

mRNA Protein Name
NM_001324318.2 NP_001311247.1 SHC SH2 domain-binding protein 1 isoform 2
NM_001324319.2 NP_001311248.1 SHC SH2 domain-binding protein 1 isoform 3
NM_024745.5 NP_079021.4 SHC SH2 domain-binding protein 1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25852190 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SHCBP1 Protein Structure

Beta_helix

Beta_helix: Right handed beta helix region (436 - 546)

  • 0
  • 200
  • 400
  • 600
  • 672 a.a.
Protein Preferred Names Protein Names

SHC SH2 domain-binding protein 1

  • Protein expressed in Activated Lymphocytes

Related Diseases

Diseases Alias
Desmoid Disease, Hereditary
  • Fif

  • DESMD

  • Hereditary Desmoid Disease

  • Familial Infiltrative Fibromatosis

  • Fibromatosis, Familial Infiltrative

  • Fibromatosis, Aggressive

Hermansky-Pudlak Syndrome 3
  • HPS3

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

  • Delta Storage Pool Disease

  • Hermansky-Pudlak Syndrome, Type 3

  • Platelet Storage Pool Deficiency

  • Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus SHCBP1 VGNC VGNC:34592
Felis catus SHCBP1 VGNC VGNC:65119
Rattus norvegicus SHCBP1 RGD RGD:1590844
Macaca mulatta SHCBP1 VGNC VGNC:77339
Mus musculus SHCBP1 MGD MGI:1338802
Canis familiaris SHCBP1 VGNC VGNC:46143
Others SHCBP1 NCBI