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NBPF7P NBPF member 7, pseudogene [ Homo sapiens (human) ]

Gene ID: 343505, updated on 13-May-2022

Summary

Official Symbol
NBPF7Pprovided by HGNC
Official Full Name
NBPF member 7, pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:31989
See related
MIM:613997; AllianceGenome:HGNC:31989
Gene type
pseudo
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NBPF7
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, Mar 2013]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See NBPF7P in Genome Data Viewer
Location:
1p12
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (119833709..119844724, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (119846928..119857961, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (120376332..120387347, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene 3-hydroxy-3-methylglutaryl-CoA synthase 2 Neighboring gene Sharpr-MPRA regulatory region 1341 Neighboring gene regenerating family member 4 Neighboring gene Sharpr-MPRA regulatory region 12070 Neighboring gene profilin 1 pseudogene 9

Genomic regions, transcripts, and products

General gene information

Homology

Other Names

  • NBPF member 7
  • neuroblastoma breakpoint family member 7
  • putative neuroblastoma breakpoint family member 7

Gene Ontology Provided by GOA

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

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.

RNA

  1. NR_171566.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL359752
  2. NR_171567.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL359752

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    119833709..119844724 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    119846928..119857961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001047980.3: Suppressed sequence

    Description
    NM_001047980.3: This RefSeq was removed because it is now thought that this gene does not encode a protein.
  2. NM_001388487.1: Suppressed sequence

    Description
    NM_001388487.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.