MAK16 MAK16 homolog [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAK16provided by HGNC
Official Full Name: MAK16 homologprovided by HGNC
Primary source: HGNC:HGNC:13703
See related: Ensembl:ENSG00000198042 AllianceGenome:HGNC:13703
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: RBM13; MAK16L
Summary: Enables RNA binding activity. Predicted to be involved in maturation of 5.8S rRNA and maturation of LSU-rRNA. Located in nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in lymph node (RPKM 5.6), appendix (RPKM 5.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p12

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (33485182..33501262)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (33756558..33772601)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (33342700..33358780)

Chromosome 8 - NC_000008.11 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?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

G29147 (e-PCR)
- UniSTS:82791

27STS02 (e-PCR)
- UniSTS:506240

SHGC-5767 (e-PCR)
- UniSTS:42916

SHGC-32777 (e-PCR)
- UniSTS:5367

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in maturation of 5.8S rRNA	IBA Inferred from Biological aspect of Ancestor more info
involved_in maturation of LSU-rRNA	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
part_of preribosome, large subunit precursor	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: protein MAK16 homolog

Names: NNP78; RNA binding motif protein 13; RNA binding protein

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.