SPTBN5 - spectrin beta, non-erythrocytic 5 Gene

Also Known as BSPECV; HUSPECV; HUBSPECV

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51332

About SPTBN5

Cytogenetic location: 15q15.1 Genomic coordinates (GRCh38): 15:41,848,146-41,894,053 (from NCBI)

This gene has 2 transcripts (splice variants), 133 orthologues and 36 paralogues. Low expression observed in reference dataset.

Summary

Enables several functions, including cytoskeletal protein binding activity; dynein intermediate chain binding activity; and identical protein binding activity. Acts upstream of or within Golgi organization and lysosomal transport. Located in cytoplasm; photoreceptor connecting cilium; and photoreceptor disc membrane. [provided by Alliance of Genome Resources, Apr 2022]

SPTBN5 Products (1)

mRNA Protein Name
NM_016642.4 NP_057726.4 spectrin beta chain, non-erythrocytic 5

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables dynactin binding IDA
IDA: Inferred from direct assay
23704327 GOA
enables dynein intermediate chain binding IDA
IDA: Inferred from direct assay
23704327 GOA
enables identical protein binding IDA
IDA: Inferred from direct assay
23704327 GOA
enables kinesin binding IDA
IDA: Inferred from direct assay
23704327 GOA
enables myosin tail binding IDA
IDA: Inferred from direct assay
23704327 GOA
enables spectrin binding IDA
IDA: Inferred from direct assay
23704327 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within Golgi organization IMP
IMP: Inferred from mutant phenotype
23704327 GOA
acts upstream of or within lysosomal transport IMP
IMP: Inferred from mutant phenotype
23704327 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
23704327 GOA
located in photoreceptor connecting cilium IDA
IDA: Inferred from direct assay
23704327 GOA
located in photoreceptor disc membrane IDA
IDA: Inferred from direct assay
23704327 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

SPTBN5 Protein Structure

CH

CH: Calponin homology (CH) domain (57 - 159)

CH

CH: Calponin homology (CH) domain (180 - 281)

Spectrin

Spectrin: Spectrin repeat (307 - 416)

Spectrin

Spectrin: Spectrin repeat (428 - 529)

Spectrin

Spectrin: Spectrin repeat (642 - 742)

Spectrin

Spectrin: Spectrin repeat (746 - 810)

Spectrin

Spectrin: Spectrin repeat (900 - 996)

Spectrin

Spectrin: Spectrin repeat (1103 - 1206)

Spectrin

Spectrin: Spectrin repeat (1209 - 1311)

Spectrin

Spectrin: Spectrin repeat (1315 - 1417)

Spectrin

Spectrin: Spectrin repeat (1521 - 1624)

Spectrin

Spectrin: Spectrin repeat (1628 - 1727)

Spectrin

Spectrin: Spectrin repeat (1731 - 1834)

Spectrin

Spectrin: Spectrin repeat (1842 - 1940)

Spectrin

Spectrin: Spectrin repeat (1944 - 2046)

Spectrin

Spectrin: Spectrin repeat (2052 - 2146)

Spectrin

Spectrin: Spectrin repeat (2150 - 2253)

Spectrin

Spectrin: Spectrin repeat (2256 - 2361)

Spectrin

Spectrin: Spectrin repeat (2367 - 2467)

Spectrin

Spectrin: Spectrin repeat (2471 - 2574)

Spectrin

Spectrin: Spectrin repeat (2577 - 2680)

Spectrin

Spectrin: Spectrin repeat (2683 - 2784)

Spectrin

Spectrin: Spectrin repeat (2790 - 2890)

Spectrin

Spectrin: Spectrin repeat (2894 - 2997)

Spectrin

Spectrin: Spectrin repeat (3000 - 3103)

Spectrin

Spectrin: Spectrin repeat (3106 - 3209)

Spectrin

Spectrin: Spectrin repeat (3213 - 3311)

Spectrin

Spectrin: Spectrin repeat (3318 - 3415)

Spectrin

Spectrin: Spectrin repeat (3422 - 3488)

  • 0
  • 600
  • 1200
  • 1800
  • 2400
  • 3000
  • 3674 a.a.
Protein Preferred Names Protein Names

spectrin beta chain, non-erythrocytic 5

  • beta V spectrin

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 5

  • Epileptic Encephalopathy, Early Infantile, 5

  • DEE5

  • Eiee5

  • Developmental And Epileptic Encephalopathy, 5

  • Early Infantile Epileptic Encephalopathy 5

  • Encephalopathy, Epileptic, Early Infantile, Type 5
Spinocerebellar Ataxia 5

  • Spinocerebellar Ataxia Type 5

  • SCA5

  • Spinocerebellar Ataxia-5

  • Ataxia, Spinocerebellar, Type 5
Sacral Defect With Anterior Meningocele

  • Caudal Regression Syndrome

  • Caudal Regression Sequence

  • Sacral Agenesis

  • Caudal Dysgenesis Syndrome

  • SDAM

  • Caudal Dysplasia Sequence

  • Caudal Dysplasia

  • Sacral Agenesis Syndrome

  • Sacral Regression Syndrome

  • Sacral Defect And Anterior Sacral Meningocele

  • Rudd Klimek Syndrome

  • Sirenomelia
Retinitis Pigmentosa 12

  • RP12

  • Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium

  • Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium

  • Rp With Or Without Pprpe

  • Retinitis Pigmentosa-12
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13735 SPTBN5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SPTBN5 VGNC VGNC:77927
Bos taurus SPTBN5 VGNC VGNC:35255
Felis catus SPTBN5 VGNC VGNC:65662
Rattus norvegicus SPTBN5 RGD RGD:1311047
Canis familiaris SPTBN5 VGNC VGNC:46778
Mus musculus SPTBN5 MGD MGI:2685200