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

NAB1 - NGFI-A binding protein 1 Gene

中文名称:NGFI-A 结合蛋白 1

种属: Homo sapiens

基因 ID: 4664 | 基因类型: protein coding

关于 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.

功能概要

预测启用转录共调节因子活动。预计参与转录调控,以 DNA 为模板。预测作用于软骨内骨化的上游或内部;神经系统发育;和调节表皮发育。预测位于核质中。预计活跃于核心。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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 蛋白结构

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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  • 487 a.a.
蛋白主名 其他名称

NGFI-A-binding protein 1

EGR-1-binding protein 1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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