2. Gene
  3. PAXBP1 - PAX3 and PAX7 binding protein 1 Gene

PAXBP1 - PAX3 and PAX7 binding protein 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

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

Gene ID: 94104 | Gene type: protein coding

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
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  • 800
  • 917 a.a.
Protein Preferred Names Protein Names

PAX3- and PAX7-binding protein 1

GC-rich sequence DNA-binding factor 1

Related Diseases

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10097 PAXBP1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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