NBPF12 NBPF member 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NBPF12provided by HGNC
Official Full Name: NBPF member 12provided by HGNC
Primary source: HGNC:HGNC:24297
See related: Ensembl:ENSG00000268043 MIM:608607; AllianceGenome:HGNC:24297
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: COAS1; KIAA1245
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, May 2013]
Expression: Ubiquitous expression in ovary (RPKM 12.2), testis (RPKM 12.2) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 1q21.1

Exon count:: 37

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (146938324..146996198)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (147812240..147870102, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1 Unlocalized Scaffold	NT_167207.1 (5292..16348, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21; (COAS1, COAS2, COAS3)
Title: Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66976 (e-PCR)
- UniSTS:88368

G34947 (e-PCR)
- UniSTS:117658

RH80466 (e-PCR)
- UniSTS:92643

AL033815 (e-PCR)
- UniSTS:93680

Gene Ontology Provided by GOA

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: neuroblastoma breakpoint family member 12

Names: chomosome one amplified sequence 1 cyclophilin; chromosome 1 amplified sequence 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001278141.3 → NP_001265070.1 neuroblastoma breakpoint family member 12

Status: VALIDATED

Source sequence(s)

AC244394

Consensus CDS

CCDS72881.1

UniProtKB/Swiss-Prot

A0A087WUF1, O95877, Q3BBV0, Q5TAG4, Q8N4E8, Q9C0H0, S4R3K2

Related

ENSP00000513971.1, ENST00000698835.1

Conserved Domains (2) summary

pfam06758
Location:1272 → 1337

DUF1220; Repeat of unknown function (DUF1220)

cl26511
Location:29 → 469

Neuromodulin_N; Gap junction protein N-terminal region