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MKRN1 makorin ring finger protein 1 [ Homo sapiens (human) ]

Gene ID: 23608, updated on 5-Aug-2018

Summary

Official Symbol
MKRN1provided by HGNC
Official Full Name
makorin ring finger protein 1provided by HGNC
Primary source
HGNC:HGNC:7112
See related
Ensembl:ENSG00000133606 MIM:607754; Vega:OTTHUMG00000157412
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
RNF61
Summary
This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this protein's E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
Expression
Ubiquitous expression in bone marrow (RPKM 50.0), testis (RPKM 49.4) and 25 other tissues See more
Orthologs

Genomic context

See MKRN1 in Genome Data Viewer
Location:
7q34
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (140453040..140479569, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (140152840..140179369, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RAB19, member RAS oncogene family Neighboring gene nucleoside diphosphate kinase, mitochondrial-like Neighboring gene DENN domain containing 2A Neighboring gene uncharacterized LOC105375535 Neighboring gene RNA, 7SL, cytoplasmic 771, pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21334

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity TAS
Traceable Author Statement
more info
 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase makorin-1
Names
RING finger protein 61
RING-type E3 ubiquitin transferase makorin-1
NP_001138597.1
NP_001278592.1
NP_038474.2
XP_011514298.1
XP_011514299.1
XP_011514300.1

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_001145125.1NP_001138597.1  E3 ubiquitin-protein ligase makorin-1 isoform 2

    See identical proteins and their annotated locations for NP_001138597.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a 3' terminal exon that extends past a splice site that is used in variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter compared to isoform 1.
    Source sequence(s)
    AC069335, AM236048, CA438497
    Consensus CDS
    CCDS47725.1
    UniProtKB/Swiss-Prot
    Q9UHC7
    Related
    ENSP00000416369.2, OTTHUMP00000212118, ENST00000443720.6, OTTHUMT00000348753
    Conserved Domains (2) summary
    smart00356
    Location:88110
    ZnF_C3H1; zinc finger
    cd00162
    Location:281323
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
  2. NM_001291663.1NP_001278592.1  E3 ubiquitin-protein ligase makorin-1 isoform 3

    See identical proteins and their annotated locations for NP_001278592.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. These differences result in distinct 5' and 3' UTRs and cause translation initiation at a downstream start codon compared to variant 1. The 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG to encode an isoform (3) that has a shorter N-terminus, and a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC069335, BC051821, CA438497, DC400746
    Conserved Domains (2) summary
    smart00356
    Location:2446
    ZnF_C3H1; zinc finger
    cd00162
    Location:217259
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
  3. NM_013446.3NP_038474.2  E3 ubiquitin-protein ligase makorin-1 isoform 1

    See identical proteins and their annotated locations for NP_038474.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC069335, AI828363, BC037400
    Consensus CDS
    CCDS5860.1
    UniProtKB/Swiss-Prot
    Q9UHC7
    Related
    ENSP00000255977.2, OTTHUMP00000212117, ENST00000255977.6, OTTHUMT00000348752
    Conserved Domains (4) summary
    smart00356
    Location:88110
    ZnF_C3H1; zinc finger
    PHA03096
    Location:221370
    PHA03096; p28-like protein; Provisional
    cd00162
    Location:281335
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam15815
    Location:400480
    MKRN1_C; E3 ubiquitin-protein ligase makorin-1, C-terminal

RNA

  1. NR_117084.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate internal exons compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AC069335, AI828363, AK027137, AK297361, DC400746

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    140453040..140479569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515996.2XP_011514298.1  E3 ubiquitin-protein ligase makorin-1 isoform X1

    Conserved Domains (3) summary
    PHA03096
    Location:178327
    PHA03096; p28-like protein; Provisional
    cd00162
    Location:238292
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam15815
    Location:357437
    MKRN1_C; E3 ubiquitin-protein ligase makorin-1, C-terminal
  2. XM_011515997.3XP_011514299.1  E3 ubiquitin-protein ligase makorin-1 isoform X2

    See identical proteins and their annotated locations for XP_011514299.1

    UniProtKB/Swiss-Prot
    Q9UHC7
    Conserved Domains (4) summary
    smart00356
    Location:2446
    ZnF_C3H1; zinc finger
    PHA03096
    Location:157306
    PHA03096; p28-like protein; Provisional
    cd00162
    Location:217271
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam15815
    Location:336416
    MKRN1_C; E3 ubiquitin-protein ligase makorin-1, C-terminal
  3. XM_011515998.1XP_011514300.1  E3 ubiquitin-protein ligase makorin-1 isoform X2

    See identical proteins and their annotated locations for XP_011514300.1

    UniProtKB/Swiss-Prot
    Q9UHC7
    Related
    ENSP00000417863.1, OTTHUMP00000212121, ENST00000474576.5, OTTHUMT00000348758
    Conserved Domains (4) summary
    smart00356
    Location:2446
    ZnF_C3H1; zinc finger
    PHA03096
    Location:157306
    PHA03096; p28-like protein; Provisional
    cd00162
    Location:217271
    RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
    pfam15815
    Location:336416
    MKRN1_C; E3 ubiquitin-protein ligase makorin-1, C-terminal
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