NBPF10 - NBPF member 10 Gene

Homo sapiens

Also known as AB6; AG1; NBPF9

Gene ID: 100132406 | Gene type: protein coding

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

Bioactive Molecules (1)

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

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