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MARCHF6 membrane associated ring-CH-type finger 6 [ Homo sapiens (human) ]

Gene ID: 10299, updated on 1-Jun-2020

Summary

Official Symbol
MARCHF6provided by HGNC
Official Full Name
membrane associated ring-CH-type finger 6provided by HGNC
Primary source
HGNC:HGNC:30550
See related
Ensembl:ENSG00000145495 MIM:613297
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TEB4; DOA10; FAME3; MARCH6; RNF176; MARCH-VI
Summary
This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Expression
Ubiquitous expression in brain (RPKM 18.9), bone marrow (RPKM 17.4) and 25 other tissues See more
Orthologs

Genomic context

See MARCHF6 in Genome Data Viewer
Location:
5p15.2
Exon count:
31
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (10353693..10440388)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (10353751..10440500)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12783 Neighboring gene uncharacterized LOC105374651 Neighboring gene uncharacterized LOC101929977 Neighboring gene microRNA 10397 Neighboring gene ROPN1L antisense RNA 1 Neighboring gene rhophilin associated tail protein 1 like Neighboring gene uncharacterized LOC105369214

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epilepsy, familial adult myoclonic, 3
MedGen: C3150860 OMIM: 613608 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A novel locus for body mass index on 5p15.2: a meta-analysis of two genome-wide association studies.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0597, DKFZp586L081

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin conjugating enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase activity TAS
Traceable Author Statement
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-specific protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
ERAD pathway TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum mannose trimming TAS
Traceable Author Statement
more info
 
proteasomal protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
ER ubiquitin ligase complex IC
Inferred by Curator
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum quality control compartment IEA
Inferred from Electronic Annotation
more info
 
integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
E3 ubiquitin-protein ligase MARCHF6
Names
E3 ubiquitin-protein ligase MARCH6
RING finger protein 176
RING-type E3 ubiquitin transferase MARCH6
RING-type E3 ubiquitin transferase MARCHF6
doa10 homolog
membrane associated ring finger 6
membrane-associated RING finger protein 6
membrane-associated RING-CH finger protein 6
membrane-associated RING-CH protein VI
membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase
NP_001257589.1
NP_001257590.1
NP_005876.2
XP_011512234.1
XP_011512236.1
XP_011512238.1
XP_016864433.1

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001270660.2NP_001257589.1  E3 ubiquitin-protein ligase MARCHF6 isoform 2

    See identical proteins and their annotated locations for NP_001257589.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC092336, AK300034, BX116291, DB072938
    Consensus CDS
    CCDS59487.1
    UniProtKB/Swiss-Prot
    O60337
    Related
    ENSP00000414643.2, ENST00000449913.6
    Conserved Domains (2) summary
    COG5183
    Location:334845
    SSM4; E3 ubiquitin-protein ligase DOA10 [Posttranslational modification, protein turnover, chaperones]
    cd16702
    Location:857
    RING_CH-C4HC3_MARCH6; RING-CH finger, H2 subclass (C4HC3-type), found in membrane-associated RING-CH6 (MARCH6)
  2. NM_001270661.2NP_001257590.1  E3 ubiquitin-protein ligase MARCHF6 isoform 3

    See identical proteins and their annotated locations for NP_001257590.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks three alternate in-frame exons in the coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC092336, AK296585, BX116291, DB072938
    Consensus CDS
    CCDS59488.1
    UniProtKB/Swiss-Prot
    O60337
    Related
    ENSP00000425930.1, ENST00000503788.5
    Conserved Domains (1) summary
    COG5183
    Location:277788
    SSM4; E3 ubiquitin-protein ligase DOA10 [Posttranslational modification, protein turnover, chaperones]
  3. NM_005885.4NP_005876.2  E3 ubiquitin-protein ligase MARCHF6 isoform 1

    See identical proteins and their annotated locations for NP_005876.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB011169, AC092336, BX116291, DB072938
    Consensus CDS
    CCDS34135.1
    UniProtKB/Swiss-Prot
    O60337
    Related
    ENSP00000274140.4, ENST00000274140.10
    Conserved Domains (1) summary
    cd16702
    Location:857
    RING_CH-C4HC3_MARCH6; RING-CH finger, H2 subclass (C4HC3-type), found in membrane-associated RING-CH6 (MARCH6)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    10353693..10440388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513934.2XP_011512236.1  E3 ubiquitin-protein ligase MARCHF6 isoform X2

    Conserved Domains (1) summary
    smart00744
    Location:856
    RINGv; The RING-variant domain is a C4HC3 zinc-finger like motif found in a number of cellular and viral proteins
  2. XM_011513936.3XP_011512238.1  E3 ubiquitin-protein ligase MARCHF6 isoform X3

    Conserved Domains (1) summary
    smart00744
    Location:856
    RINGv; The RING-variant domain is a C4HC3 zinc-finger like motif found in a number of cellular and viral proteins
  3. XM_017008944.2XP_016864433.1  E3 ubiquitin-protein ligase MARCHF6 isoform X4

  4. XM_011513932.2XP_011512234.1  E3 ubiquitin-protein ligase MARCHF6 isoform X1

    Conserved Domains (1) summary
    COG5183
    Location:314825
    SSM4; E3 ubiquitin-protein ligase DOA10 [Posttranslational modification, protein turnover, chaperones]

RNA

  1. XR_925576.3 RNA Sequence

  2. XR_925577.2 RNA Sequence

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