1. Gene
  2. NOL7 - nucleolar protein 7 Gene

NOL7 - nucleolar protein 7 Gene

Homo sapiens

Also known as PQBP3; RARG-1; C6orf90; dJ223E5.2

Gene ID: 51406 | Gene type: protein coding

About NOL7

Cytogenetic location: 6p23 Genomic coordinates (GRCh38): 6:13,615,335-13,632,470 (from NCBI)

This gene has 3 transcripts (splice variants) and 183 orthologues. Ubiquitous expression in testis (RPKM 25.5), thyroid (RPKM 22.2) and 25 other tissues.

Summary

The protein encoded by this gene localizes to the nucleolus, where it maintains nucleolar structure and cell growth rates. The encoded protein also functions as a tumor suppressor and regulator of angiogenesis. The RB tumor suppressor gene recruits transcription factors to this gene and positively regulates its expression. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]

NOL7 Products(2)

mRNA Protein Name
NM_001317724.2 NP_001304653.1 nucleolar protein 7
NM_016167.5 NP_057251.2 nucleolar protein 7

NOL7 Protein Structure

NUC129

NUC129: NUC129 domain (172 - 234)

  • 0
  • 100
  • 200
  • 257 a.a.
Protein Preferred Names Protein Names

nucleolar protein 7

nucleolar protein 7, 27kDa

Related Diseases

Diseases Alias
Renpenning Syndrome 1

Renpenning Syndrome

Golabi-Ito-Hall Syndrome

Mrxs3

Mrxs8

X-Linked Intellectual Disability Due To Pqbp1 Mutations

RENS1

Sutherland-Haan X-Linked Mental Retardation Syndrome

Shs

Mrx55

X-Linked Intellectual Disability, Renpenning Type

Sutherland-Haan Syndrome

Mental Retardation, X-Linked, Renpenning Type

Mental Retardation, X-Linked, With Spastic Diplegia

Mental Retardation, X-Linked, Syndromic 3

Mental Retardation, X-Linked, Syndromic 8

Mental Retardation, X-Linked 55

Syndromic X-Linked Mental Retardation 8

X-Linked Mental Retardation Renpenning Type

X-Linked Mental Retardation With Spastic Diplegia

Sutherland-Haan X-Linked Intellectual Disability Syndrome

X-Linked Intellectual Disability With Spastic Diplegia

Hamel Cerebropalatocardiac Syndrome

Porteous Syndrome

X-Linked Intellectual Deficit Due To Pqbp1 Mutations

X-Linked Intellectual Deficit, Renpenning Type

X-Linked Intellectual Disability, Sutherland-Haan Type

Hamel Cerebro-Palato-Cardiac Syndrome

Renpenning Syndrome, Type 1

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 NOL7 VGNC VGNC:32159
Macaca mulatta NOL7 VGNC VGNC:75226
Mus musculus NOL7 MGD MGI:1917328
Rattus norvegicus NOL7 RGD RGD:1565934
Canis familiaris NOL7 VGNC VGNC:43884
Felis catus NOL7 VGNC VGNC:102476