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

Gene ID: 160140, updated on 3-Apr-2024

Summary

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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, Apr 2022]
Expression
Biased expression in testis (RPKM 4.7), lymph node (RPKM 0.9) and 11 other tissues See more
Orthologs
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Genomic context

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See C11orf65 in Genome Data Viewer
Location:
11q22.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (108308519..108469881, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (108316028..108477364, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (108179246..108338256, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr11:107991956-107992494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5482 Neighboring gene MPRA-validated peak1447 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr11:108021496-108021664 Neighboring gene acetyl-CoA acetyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3877 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108047982 Neighboring gene nuclear protein, coactivator of histone transcription Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108089151 Neighboring gene NANOG hESC enhancer GRCh37_chr11:108089784-108090285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5487 Neighboring gene MPRA-validated peak1449 silencer Neighboring gene MPRA-validated peak1450 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108140516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:108147863-108148662 Neighboring gene ATM serine/threonine kinase Neighboring gene MPRA-validated peak1451 silencer Neighboring gene MPRA-validated peak1452 silencer Neighboring gene MPRA-validated peak1453 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108273376 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108294773 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108301322 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108309656 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108323261 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108333620 Neighboring gene Sharpr-MPRA regulatory region 13200 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:108337475-108338327 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 11:108344264 Neighboring gene uncharacterized LOC124902749 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:108353409-108353587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3878 Neighboring gene uncharacterized LOC112267909 Neighboring gene protein O-glucosyltransferase 3 Neighboring gene exophilin 5

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
  • 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. Does metformin work for everyone? A genome-wide association study for metformin response. Florez JC. Curr Diab Rep, 2011 Dec. PMID 21845381
  2. Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group, et al. Nat Genet, 2011 Feb. PMID 21186350, Free PMC Article
  3. A Genetic Interaction Map of Insulin Production Identifies Mfi as an Inhibitor of Mitochondrial Fission. Lee J, et al. Endocrinology, 2018 Sep 1. PMID 30059978, Free PMC Article
  4. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article
  5. Genetic susceptibility to distinct bladder cancer subphenotypes. Guey LT, et al. Eur Urol, 2010 Feb. PMID 19692168, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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
Does metformin work for everyone? A genome-wide association study for metformin response.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC33948

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.

Genomic

  1. NG_054724.1 RefSeqGene

    Range
    7304..92078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330368.2 → NP_001317297.1  protein MFI isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK303096
    Consensus CDS
    CCDS81622.1
    UniProtKB/Swiss-Prot
    Q8NCR3
    Related
    ENSP00000433395.1, ENST00000525729.5

  2. NM_001351110.2 → NP_001338039.1  protein MFI isoform 3

    Status: VALIDATED

    Source sequence(s)
    AP001925, AP005718

  3. NM_152587.5 → NP_689800.3  protein MFI isoform 1

    See identical proteins and their annotated locations for NP_689800.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AP005718, BC029536, DB104722
    Consensus CDS
    CCDS8340.1
    UniProtKB/Swiss-Prot
    B4DZU4, Q6PCA8, Q8NCR3
    Related
    ENSP00000376799.1, ENST00000393084.6

RNA

  1. NR_147053.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP005718

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    108308519..108469881 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426461.1 → XP_047282417.1  protein MFI isoform X1

  2. XM_047426467.1 → XP_047282423.1  protein MFI isoform X7

  3. XM_047426463.1 → XP_047282419.1  protein MFI isoform X3

  4. XM_047426473.1 → XP_047282429.1  protein MFI isoform X14

  5. XM_047426462.1 → XP_047282418.1  protein MFI isoform X2

  6. XM_047426459.1 → XP_047282415.1  protein MFI isoform X1

  7. XM_047426458.1 → XP_047282414.1  protein MFI isoform X1

  8. XM_047426466.1 → XP_047282422.1  protein MFI isoform X6

  9. XM_047426460.1 → XP_047282416.1  protein MFI isoform X1

  10. XM_047426471.1 → XP_047282427.1  protein MFI isoform X12

  11. XM_047426470.1 → XP_047282426.1  protein MFI isoform X11

  12. XM_047426476.1 → XP_047282432.1  protein MFI isoform X17

  13. XM_047426477.1 → XP_047282433.1  protein MFI isoform X18

  14. XM_011542643.3 → XP_011540945.1  protein MFI isoform X16

  15. XM_047426469.1 → XP_047282425.1  protein MFI isoform X10

  16. XM_047426464.1 → XP_047282420.1  protein MFI isoform X4

  17. XM_047426478.1 → XP_047282434.1  protein MFI isoform X19

  18. XM_047426474.1 → XP_047282430.1  protein MFI isoform X15

  19. XM_011542641.3 → XP_011540943.1  protein MFI isoform X13

    See identical proteins and their annotated locations for XP_011540943.1

  20. XM_005271413.4 → XP_005271470.1  protein MFI isoform X9

  21. XM_005271412.4 → XP_005271469.1  protein MFI isoform X5

    See identical proteins and their annotated locations for XP_005271469.1

  22. XM_047426472.1 → XP_047282428.1  protein MFI isoform X13

  23. XM_047426465.1 → XP_047282421.1  protein MFI isoform X5

  24. XM_047426468.1 → XP_047282424.1  protein MFI isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    108316028..108477364 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367842.1 → XP_054223817.1  protein MFI isoform X1

  2. XM_054367849.1 → XP_054223824.1  protein MFI isoform X7

  3. XM_054367844.1 → XP_054223819.1  protein MFI isoform X3

  4. XM_054367856.1 → XP_054223831.1  protein MFI isoform X14

  5. XM_054367843.1 → XP_054223818.1  protein MFI isoform X2

  6. XM_054367840.1 → XP_054223815.1  protein MFI isoform X1

  7. XM_054367839.1 → XP_054223814.1  protein MFI isoform X1

  8. XM_054367848.1 → XP_054223823.1  protein MFI isoform X6

  9. XM_054367841.1 → XP_054223816.1  protein MFI isoform X1

  10. XM_054367854.1 → XP_054223829.1  protein MFI isoform X12

  11. XM_054367853.1 → XP_054223828.1  protein MFI isoform X11

  12. XM_054367860.1 → XP_054223835.1  protein MFI isoform X17

  13. XM_054367861.1 → XP_054223836.1  protein MFI isoform X18

  14. XM_054367859.1 → XP_054223834.1  protein MFI isoform X16

  15. XM_054367852.1 → XP_054223827.1  protein MFI isoform X10

  16. XM_054367845.1 → XP_054223820.1  protein MFI isoform X4

  17. XM_054367862.1 → XP_054223837.1  protein MFI isoform X19

  18. XM_054367858.1 → XP_054223833.1  protein MFI isoform X15

  19. XM_054367857.1 → XP_054223832.1  protein MFI isoform X13

  20. XM_054367851.1 → XP_054223826.1  protein MFI isoform X9

  21. XM_054367847.1 → XP_054223822.1  protein MFI isoform X5

  22. XM_054367855.1 → XP_054223830.1  protein MFI isoform X13

  23. XM_054367846.1 → XP_054223821.1  protein MFI isoform X5

  24. XM_054367850.1 → XP_054223825.1  protein MFI isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NCR3.1 GenPept UniProtKB/Swiss-Prot:Q8NCR3

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