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NBPF10 - NBPF member 10 Gene

Also Known as AB6; AG1; NBPF9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 100132406

About NBPF10

Cytogenetic location: 1q21.1 Genomic coordinates (GRCh38): 1:146,064,699-146,144,804 (from NCBI)

This gene has 3 transcripts (splice variants), 11 orthologues and 14 paralogues. Ubiquitous expression in fat (RPKM 18.0), skin (RPKM 17.6) 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

NBPF10 Products (2)

mRNA	Protein	Name
NM_001039703.6	NP_001034792.4	neuroblastoma breakpoint family member 10 isoform b
NM_001302371.3	NP_001289300.1	neuroblastoma breakpoint family member 10 isoform a

NBPF10 Protein Structure

DUF1220

0
600
1200
1800
2400
3000
3553 a.a.

Protein Preferred Names	Protein Names
neuroblastoma breakpoint family member 10

Related Diseases

Diseases	Alias
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Hemochromatosis, Type 2a	Hemochromatosis Type 2a HFE2A Juvenile Hemochromatosis Hemochromatosis 2a Hefe2 Hemochromatosis Type 2 Jh
Mayer-Rokitansky-Kuster-Hauser Syndrome Type 1	Rokitansky Sequence Congenital Absence Of Uterus And Vagina Mrkh Syndrome Type 1
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09059	NBPF10 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown