PAXBP1 - PAX3 and PAX7 binding protein 1 Gene

Also Known as GCFC; BM020; GCFC1; FSAP105; C21orf66

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 94104

About PAXBP1

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:32,733,899-32,771,755 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 204 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 19.2), ovary (RPKM 10.2) and 25 other tissues.

Summary

This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009]

PAXBP1 Products (2)

mRNA Protein Name
NM_013329.4 NP_037461.2 PAX3- and PAX7-binding protein 1 isoform 2
NM_016631.4 NP_057715.2 PAX3- and PAX7-binding protein 1 isoform 1

PAXBP1 Protein Structure

GCFC

GCFC: GC-rich sequence DNA-binding factor-like protein (595 - 807)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 917 a.a.
Protein Preferred Names Protein Names

PAX3- and PAX7-binding protein 1

  • GC-rich sequence DNA-binding factor 1

関連疾患

Diseases Alias
Aniseikonia
Myopathy, Centronuclear, 1

  • Autosomal Dominant Centronuclear Myopathy

  • CNM1

  • Centronuclear Myopathy 1

  • Ad-Cnm

  • Myopathy, Centronuclear, Autosomal Dominant

  • Myotubular Myopathy, Autosomal Dominant

  • Centronuclear Myopathy, Autosomal, Modifier Of

  • Autosomal Dominant Myotubular Myopathy

  • Dnm2-Related Centronuclear Myopathy

  • Centronuclear Myopathy Autosomal Dominant

  • Myopathies, Structural, Congenital

  • Myopathy, Centronuclear, Type 1
Neuronopathy, Distal Hereditary Motor, Type Iia

  • HMN2A

  • Hmn Iia

  • Neuropathy, Distal Hereditary Motor, Type Iia

  • Dhmn2a

  • Distal Hereditary Motor Neuronopathy Type 2a

  • Distal Hereditary Motor Neuropathy Type Iia

  • Neuronopathy, Distal Hereditary Motor, Type 2a

  • Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia

  • Charcot-Marie-Tooth Disease, Spinal, Iia

  • Autosomal Dominant Adult Spinal Muscular Atrophy Iia

  • Spinal Charcot-Marie-Tooth Disease Iia

  • Neuronopathy, Distal Hereditary Motor, 2a

  • Charcot-Marie-Tooth Disease Spinal Iia

  • Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia

  • Neuropathy, Motor, Distal, Hereditary, Type 2a
Nemaline Myopathy 10

  • NEM10

  • Myopathy, Nemaline, Type 10
Nemaline Myopathy 11, Autosomal Recessive

  • NEM11

  • Nemaline Myopathy 11
Tatton-Brown-Rahman Syndrome

  • TBRS

  • Dnmt3a Overgrowth Syndrome

  • Tatton-Brown-Rahman Overgrowth Syndrome

  • Dos

  • Dnmt3a-Related Overgrowth Syndrome

  • Doid:0112339

  • Dose
Hematuria, Benign Familial

  • Benign Familial Hematuria

  • BFH

  • Thin Membrane Nephropathy

  • Tmn

  • Thin Basement Membrane Nephropathy

  • Thin-Basement-Membrane Nephropathy

  • Hematuria, Familial Benign

  • Hematuria Benign Familial

  • Hematuria, Benign, Familial

  • Thin Basement Membrane Disease
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)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS10097 PAXBP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Felis catus PAXBP1 VGNC VGNC:97547
Rattus norvegicus PAXBP1 RGD RGD:1584739
Canis familiaris PAXBP1 VGNC VGNC:44281
Mus musculus PAXBP1 MGD MGI:1914617
Bos taurus PAXBP1 VGNC VGNC:32601
Macaca mulatta PAXBP1 VGNC VGNC:108427
Others PAXBP1 NCBI