NAB1 - NGFI-A binding protein 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4664

About NAB1

Cytogenetic location: 2q32.2 Genomic coordinates (GRCh38): 2:190,648,895-190,692,766 (from NCBI)

This gene has 10 transcripts (splice variants), 235 orthologues and 1 paralogue. Ubiquitous expression in skin (RPKM 20.8), esophagus (RPKM 13.9) and 25 other tissues.

Summary

Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to act upstream of or within endochondral ossification; nervous system development; and regulation of epidermis development. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

NAB1 Products (5)

mRNA Protein Name
NM_001321312.2 NP_001308241.1 NGFI-A-binding protein 1 isoform 1
NM_001321313.1 NP_001308242.1 NGFI-A-binding protein 1 isoform 1
NM_001321314.1 NP_001308243.1 NGFI-A-binding protein 1 isoform 2
NM_001321315.1 NP_001308244.1 NGFI-A-binding protein 1 isoform 3
NM_005966.4 NP_005957.2 NGFI-A-binding protein 1 isoform 1

NAB1 Protein Structure

NCD1

NCD1: NAB conserved region 1 (NCD1) (4 - 84)

NCD2

NCD2: NAB conserved region 2 (NCD2) (164 - 320)

Nab1

Nab1: Conserved region in Nab1 (322 - 487)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 487 a.a.
Protein Preferred Names Protein Names

NGFI-A-binding protein 1

  • EGR-1-binding protein 1

Related Diseases

Diseases Alias
Brain Compression
  • Compression Of Brain

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Hypertrophic Neuropathy Of Dejerine-Sottas
  • Dejerine-Sottas Disease

  • Dejerine-Sottas Syndrome

  • Charcot-Marie-Tooth Disease Type 3

  • DSS

  • Hereditary Motor And Sensory Neuropathy Type Iii

  • Hmsn3

  • Dejerine-Sottas Neuropathy

  • Hmsn Iii

  • Charcot-Marie-Tooth Disease, Type 3

  • Cmt3

  • Dsn

  • Hmsn 3

  • Hereditary Motor And Sensory Neuropathy Type 3

  • Hereditary Motor And Sensory Neuropathy 3

  • Hypertrophic Neuropathy Of Infancy

  • Charcot-Marie-Tooth Disease Demyelinating Type 4f

  • Charcot-Marie-Tooth Disease Type 4f

  • Charcot-Marie-Tooth Neuropathy Type 4f

  • Cmt4f

  • Hereditary Motor And Sensory Neuropathy Iii

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

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
Mus musculus NAB1 MGD MGI:107564
Bos taurus NAB1 VGNC VGNC:31857
Felis catus NAB1 VGNC VGNC:68408
Macaca mulatta NAB1 VGNC VGNC:99386
Canis familiaris NAB1 VGNC VGNC:43600
Rattus norvegicus NAB1 RGD RGD:70882
Others NAB1 NCBI