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NBPF12 NBPF member 12 [ Homo sapiens (human) ]

Gene ID: 149013, updated on 2-Nov-2024

Summary

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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

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See NBPF12 in Genome Data Viewer
Location:
1q21.1
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (146938324..146996198)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (147812240..147870102, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 Unlocalized Scaffold NT_167207.1 (5292..16348, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene HYDIN axonemal central pair apparatus protein 2 (pseudogene) Neighboring gene RNA, 5S ribosomal pseudogene 536 Neighboring gene uncharacterized LOC124900456 Neighboring gene profilin 1 pseudogene 8 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:146501494-146502693 Neighboring gene phosphodiesterase 4D interacting protein pseudogene Neighboring gene insulin like growth factor 2 mRNA binding protein 2 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21. Meza-Zepeda LA, et al. Oncogene, 2002 Mar 28. PMID 11948409
  2. Evolutionary history and genome organization of DUF1220 protein domains. O'Bleness MS, et al. G3 (Bethesda), 2012 Sep. PMID 22973535, Free PMC Article
  3. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. Vandepoele K, et al. Mol Biol Evol, 2005 Nov. PMID 16079250
  4. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Oct 29. PMID 10574462
  5. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp434O1213

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)

  1. 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, Q5TAG4
    UniProtKB/TrEMBL
    A0AAG2UXK7
    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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    146938324..146996198
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447088.1 → XP_047303044.1  neuroblastoma breakpoint family member 12 isoform X1

    UniProtKB/Swiss-Prot
    A0A087WUF1, O95877, Q5TAG4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    147812240..147870102 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334613.1 → XP_054190588.1  neuroblastoma breakpoint family member 12 isoform X1

    UniProtKB/Swiss-Prot
    A0A087WUF1, O95877, Q5TAG4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5TAG4.3 GenPept UniProtKB/Swiss-Prot:Q5TAG4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases
Research Materials