ASB12 - ankyrin repeat and SOCS box containing 12 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 142689

About ASB12

Cytogenetic location: Xq11.2 Genomic coordinates (GRCh38): X:64,224,194-64,230,607 (from NCBI)

This gene has 1 transcript (splice variant), 255 orthologues and 1 paralogue. Low expression observed in reference dataset.

Summary

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011]

ASB12 Products (1)

mRNA Protein Name
NM_130388.4 NP_569059.3 ankyrin repeat and SOCS box protein 12
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16325183 GOA
contributes to ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
16325183 GOA
Biological Process GO Annotation Evidence References Source
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
16325183 GOA
Cellular Component GO Annotation Evidence References Source
part of ubiquitin ligase complex IDA
IDA: Inferred from direct assay
16325183 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

ASB12 Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (77 - 168)

Ank

Ank: Ankyrin repeat (184 - 208)

SOCS_box

SOCS_box: SOCS box (277 - 317)

  • 0
  • 100
  • 200
  • 300
  • 318 a.a.
Protein Preferred Names Protein Names

ankyrin repeat and SOCS box protein 12

  • ankyrin repeat domain-containing SOCS box protein Asb-12

Related Diseases

Diseases Alias
Osteopathia Striata With Cranial Sclerosis
  • Hyperostosis Generalisata With Striations

  • Robinow-Unger Syndrome

  • OSCS

  • Osteopathia Striata Cranial Sclerosis

  • Osteopathia Striata-Cranial Sclerosis Syndrome

  • Horan-Beighton Syndrome

  • Os-Cs

  • Osteopathia Striata - Cranial Sclerosis

  • Voorhoeve Disease

  • Osc

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
Canis familiaris ASB12 VGNC VGNC:38157
Bos taurus ASB12 VGNC VGNC:26189
Felis catus ASB12 VGNC VGNC:59957
Mus musculus ASB12 MGD MGI:1917642
Rattus norvegicus ASB12 RGD RGD:1561142
Others ASB12 NCBI