NBPF10 - NBPF member 10 Gene

中文名称：NBPF 成员 10

种属: Homo sapiens

同用名: AB6; AG1; NBPF9

基因 ID: 100132406 | 基因类型: protein coding

关于 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.

功能概要

该基因是神经母细胞瘤断点家族 (NBPF) 的成员，该家族由数十个最近复制的基因组成，这些基因主要位于人类 1 号染色体的节段性重复中。该基因家族在人类谱系中经历了最大的扩展，并且已经扩展到较小的范围，在一般灵长类动物中。该基因家族成员的特征是 DUF1220 蛋白结构域的串联重复拷贝。大多数 DUF1220 结构域所在的人类染色体区域 1q21.1 的基因拷贝数变异与许多发育和神经遗传疾病有关，例如小头畸形、巨头畸形、自闭症、精神分裂症、认知障碍、先天性心脏病、神经母细胞瘤、以及先天性肾脏和泌尿道异常。一些基因家族成员的表达改变与几种类型的癌症有关。这个基因家族包含许多假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 10 月]

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 基因产物(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 蛋白结构

DUF1220

0
600
1200
1800
2400
3000
3553 a.a.

蛋白主名

其他名称

neuroblastoma breakpoint family member 10

关联疾病

疾病名称

别名

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

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NBPF10 - NBPF member 10 Gene

关于 NBPF10

功能概要

NBPF10 基因产物(2)

NBPF10 蛋白结构

关联疾病

热门区域

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NBPF10 - NBPF member 10 Gene

关于 NBPF10

功能概要

NBPF10 基因产物(2)

NBPF10 蛋白结构

关联疾病

相关产品

热门区域

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G

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