2. Gene
  3. NBPF1 - NBPF member 1 Gene

NBPF1 - NBPF member 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
Homo sapiens

Also known as AD2; NBG; AB13; AB14; AB23; NBPF

Gene ID: 55672 | Gene type: protein coding

About NBPF1

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:16,562,323-16,613,564 (from NCBI)

This gene has 6 transcripts (splice variants), 9 orthologues and 14 paralogues. Ubiquitous expression in testis (RPKM 28.4), ovary (RPKM 16.7) and 25 other tissues.

Summary

This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of Cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]

NBPF1 Products(33)

mRNA Protein Name
NM_001405666.2 NP_001392595.1 neuroblastoma breakpoint family member 1 isoform 1
NM_001405667.2 NP_001392596.1 neuroblastoma breakpoint family member 1 isoform 2
NM_001405668.2 NP_001392597.1 neuroblastoma breakpoint family member 1 isoform 3
NM_001405669.2 NP_001392598.1 neuroblastoma breakpoint family member 1 isoform 3
NM_001405670.2 NP_001392599.1 neuroblastoma breakpoint family member 1 isoform 3
NM_001405671.2 NP_001392600.1 neuroblastoma breakpoint family member 1 isoform 3
NM_001405672.2 NP_001392601.1 neuroblastoma breakpoint family member 1 isoform 3
NM_001405673.2 NP_001392602.1 neuroblastoma breakpoint family member 1 isoform 3
NM_001405674.2 NP_001392603.1 neuroblastoma breakpoint family member 1 isoform 3
NM_001405675.2 NP_001392604.1 neuroblastoma breakpoint family member 1 isoform 3
NM_001405676.2 NP_001392605.1 neuroblastoma breakpoint family member 1 isoform 3
NM_001405677.2 NP_001392606.1 neuroblastoma breakpoint family member 1 isoform 3
NM_001405678.2 NP_001392607.1 neuroblastoma breakpoint family member 1 isoform 4
NM_001405679.2 NP_001392608.1 neuroblastoma breakpoint family member 1 isoform 5
NM_001405680.2 NP_001392609.1 neuroblastoma breakpoint family member 1 isoform 6
NM_001405681.2 NP_001392610.1 neuroblastoma breakpoint family member 1 isoform 6
NM_001405682.2 NP_001392611.1 neuroblastoma breakpoint family member 1 isoform 6
NM_001405683.2 NP_001392612.1 neuroblastoma breakpoint family member 1 isoform 7
NM_001405684.2 NP_001392613.1 neuroblastoma breakpoint family member 1 isoform 7
NM_001405685.2 NP_001392614.1 neuroblastoma breakpoint family member 1 isoform 7
NM_001405686.2 NP_001392615.1 neuroblastoma breakpoint family member 1 isoform 7
NM_001405687.2 NP_001392616.1 neuroblastoma breakpoint family member 1 isoform 7
NM_001405692.2 NP_001392621.1 neuroblastoma breakpoint family member 1 isoform 7
NM_001405693.2 NP_001392622.1 neuroblastoma breakpoint family member 1 isoform 7
NM_001405694.2 NP_001392623.1 neuroblastoma breakpoint family member 1 isoform 7
NM_001405695.2 NP_001392624.1 neuroblastoma breakpoint family member 1 isoform 7
NM_001405696.2 NP_001392625.1 neuroblastoma breakpoint family member 1 isoform 7
NM_001405697.2 NP_001392626.1 neuroblastoma breakpoint family member 1 isoform 8
NM_001405698.2 NP_001392627.1 neuroblastoma breakpoint family member 1 isoform 9
NM_001405699.2 NP_001392628.1 neuroblastoma breakpoint family member 1 isoform 10
NM_001405700.2 NP_001392629.1 neuroblastoma breakpoint family member 1 isoform 11
NM_001405701.2 NP_001392630.1 neuroblastoma breakpoint family member 1 isoform 12
NM_017940.8 NP_060410.4 neuroblastoma breakpoint family member 1 isoform 7

NBPF1 Protein Structure

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (180 - 243)

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (451 - 514)

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (722 - 782)

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (808 - 870)

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (880 - 946)

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (955 - 1021)

DUF1220

DUF1220: Repeat of unknown function (DUF1220) (1050 - 1116)

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  • 1139 a.a.
Protein Preferred Names Protein Names

neuroblastoma breakpoint family member 1

Related Diseases

Diseases Alias
Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma
Chronic Cervicitis
Vulva Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Vulva

Vulvar Squamous Cell Carcinoma

Vulvar Epidermoid Carcinoma

Squamous Cell Carcinoma Of The Vulva
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS09058 NBPF1 Human Pre-designed siRNA Set A / Unkown