Human Gene NBPF6 (ENST00000495380.7) from GENCODE V44
Description: Homo sapiens NBPF member 6 (NBPF6), transcript variant 2, mRNA. (from RefSeq NM_001143988) RefSeq Summary (NM_001143988): 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 of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2013]. Sequence Note:. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## Gencode Transcript: ENST00000495380.7 Gencode Gene: ENSG00000186086.19 Transcript (Including UTRs) Position: hg38 chr1:108,450,343-108,471,920 Size: 21,578 Total Exon Count: 15 Strand: + Coding Region Position: hg38 chr1:108,450,602-108,470,638 Size: 20,037 Coding Exon Count: 14
ID:NBPF6_HUMAN DESCRIPTION: RecName: Full=Neuroblastoma breakpoint family member 6; SUBCELLULAR LOCATION: Cytoplasm (Probable). MISCELLANEOUS: Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1. SIMILARITY: Belongs to the NBPF family. SIMILARITY: Contains 3 NBPF domains. SEQUENCE CAUTION: Sequence=CAH70399.1; Type=Erroneous initiation; Sequence=CAI23469.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF06758 - Repeat of unknown function (DUF1220)
ModBase Predicted Comparative 3D Structure on Q5VWK0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.