1. Gene
  2. NAB1 - NGFI-A binding protein 1 Gene

NAB1 - NGFI-A binding protein 1 Gene

Homo sapiens
Gene ID: 4664 | Gene type: protein coding

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)

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  • 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