C11orf65 chromosome 11 open reading frame 65 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C11orf65provided by HGNC
Official Full Name: chromosome 11 open reading frame 65provided by HGNC
Primary source: HGNC:HGNC:28519
See related: Ensembl:ENSG00000166323 AllianceGenome:HGNC:28519
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: MFI
Summary: Predicted to be involved in negative regulation of mitochondrial fission and negative regulation of protein targeting to mitochondrion. Predicted to be located in cytosol and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis (RPKM 4.7), lymph node (RPKM 0.9) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q22.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (108308519..108469881, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (108316028..108477364, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (108179246..108338256, complement)

Chromosome 11 - NC_000011.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic susceptibility to distinct bladder cancer subphenotypes.

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

EBI GWAS Catalog

Description
Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Does metformin work for everyone? A genome-wide association study for metformin response. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D11S1778 (e-PCR)
- UniSTS:60519

D11S535 (e-PCR)
- UniSTS:83861

RH68683 (e-PCR)
- UniSTS:10422

SGC35029 (e-PCR)
- UniSTS:36333

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in negative regulation of mitochondrial fission	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein targeting to mitochondrion	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial outer membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein MFI

Names: mitochondrial fission factor interactor; uncharacterized protein C11orf65

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.