1. Gene
  2. SHCBP1 - SHC binding and spindle associated 1 Gene

SHCBP1 - SHC binding and spindle associated 1 Gene

Homo sapiens

Also known as PAL

Gene ID: 79801 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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