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

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; AllianceGenome:HGNC:7112
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: mouse all
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Genomic context

Location:: 7q34

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (140453033..140479569, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (141767185..141793679, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (140152833..140179369, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

MKRN1 regulates the expression profiles and transcription factor activity in HeLa cells inhibition suppresses cervical cancer cell progression.
Title: MKRN1 regulates the expression profiles and transcription factor activity in HeLa cells inhibition suppresses cervical cancer cell progression.
MKRN1 promotes colorectal cancer metastasis by activating the TGF-beta signalling pathway through SNIP1 protein degradation.
Title: MKRN1 promotes colorectal cancer metastasis by activating the TGF-β signalling pathway through SNIP1 protein degradation.
MKRN1/2 serve as tumor suppressors in renal clear cell carcinoma by regulating the expression of p53.
Title: MKRN1/2 serve as tumor suppressors in renal clear cell carcinoma by regulating the expression of p53.
Gastrointestinal stromal tumors with BRAF gene fusions. A report of two cases showing low or absent KIT expression resulting in diagnostic pitfalls.
Title: Gastrointestinal stromal tumors with BRAF gene fusions. A report of two cases showing low or absent KIT expression resulting in diagnostic pitfalls.
directly binds to the cytoplasmic poly(A)-binding protein; mediates the recognition of poly(A) tails to prevent the production of erroneous proteins from prematurely polyadenylated transcripts
Title: The RNA-binding ubiquitin ligase MKRN1 functions in ribosome-associated quality control of poly(A) translation.
MKRN1 functions as a novel E3 ligase of APC that positively regulates Wnt/beta-catenin-mediated biological processes.
Title: Ubiquitylation and degradation of adenomatous polyposis coli by MKRN1 enhances Wnt/β-catenin signaling.
HAdV-C5 histone-like core protein pVII binds to and promotes self-ubiquitination of a cellular E3 ubiquitin ligase named MKRN1. This mutual interaction between the pVII and MKRN1 proteins may prime MKRN1 for proteasomal degradation, because the MKRN1 protein is efficiently degraded during the late phase of HAdV-C5 infection.
Title: Human Adenovirus Infection Causes Cellular E3 Ubiquitin Ligase MKRN1 Degradation Involving the Viral Core Protein pVII.
In combination testing, MKRN1 + HPV showed the highest sensitivity and specificity levels. The MKRN1 biomarker may be a useful adjunct in primary cervical cytology screening.
Title: Makorin Ring Finger Protein 1 as Adjunctive Marker in Liquid-based Cervical Cytology.
EGFR/PI3K/AKT-mediated ubiquitination and degradation of PTEN are dependent on the MKRN1 E3 ligase.
Title: PI3K/AKT activation induces PTEN ubiquitination and destabilization accelerating tumourigenesis.
Results verified MKRN1 as an ubiquitin E3 ligase of p14ARF, it potentially regulates cellular aging and tumorigenesis in gastric cancer.
Title: Acceleration of gastric tumorigenesis through MKRN1-mediated posttranslational regulation of p14ARF.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

PMC156606P1 (e-PCR)
- UniSTS:271408

G19952 (e-PCR)
- UniSTS:22878

D7S2143E (e-PCR)
- UniSTS:151139

D1S1423 (e-PCR)
- UniSTS:149619

RH47137 (e-PCR)
- UniSTS:68256

RH10747 (e-PCR)
- UniSTS:86237

WI-19904 (e-PCR)
- UniSTS:51166

RH98946 (e-PCR)
- UniSTS:84453

RH134570 (e-PCR)
- UniSTS:217850

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in protein polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase makorin-1

Names: RING finger protein 61; RING-type E3 ubiquitin transferase makorin-1

NP_001138597.1

EC 2.3.2.27

NP_001278592.1

EC 2.3.2.27

NP_038474.2

EC 2.3.2.27

XP_011514298.1

EC 2.3.2.27

XP_011514299.1

EC 2.3.2.27

XP_011514300.1

EC 2.3.2.27

XP_047276054.1

EC 2.3.2.27

XP_047276055.1

EC 2.3.2.27

XP_054213702.1

EC 2.3.2.27

XP_054213703.1

EC 2.3.2.27

XP_054213704.1

EC 2.3.2.27

XP_054213705.1

EC 2.3.2.27

XP_054213706.1

EC 2.3.2.27

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.

mRNA and Protein(s)

NM_001145125.2 → NP_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

Consensus CDS

CCDS47725.1

UniProtKB/Swiss-Prot

Q9UHC7

Related

ENSP00000416369.2, ENST00000443720.6

Conserved Domains (2) summary

smart00356
Location:88 → 110

ZnF_C3H1; zinc finger

cd00162
Location:281 → 323

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 ...
NM_001291663.2 → NP_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, DC400746

Conserved Domains (2) summary

smart00356
Location:24 → 46

ZnF_C3H1; zinc finger

cd00162
Location:217 → 259

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 ...
NM_013446.4 → NP_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

A4D1T7, B3KXB4, Q256Y7, Q59G11, Q6GSF1, Q9H0G0, Q9UEZ7, Q9UHC7, Q9UHW2

Related

ENSP00000255977.2, ENST00000255977.7

Conserved Domains (4) summary

smart00356
Location:88 → 110

ZnF_C3H1; zinc finger

PHA03096
Location:221 → 370

PHA03096; p28-like protein; Provisional

cd00162
Location:281 → 335

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:400 → 480

MKRN1_C; E3 ubiquitin-protein ligase makorin-1, C-terminal

RNA

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: 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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

140453033..140479569 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011515996.3 → XP_011514298.1 E3 ubiquitin-protein ligase makorin-1 isoform X1

Conserved Domains (3) summary

PHA03096
Location:178 → 327

PHA03096; p28-like protein; Provisional

cd00162
Location:238 → 292

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:357 → 437

MKRN1_C; E3 ubiquitin-protein ligase makorin-1, C-terminal
XM_011515998.2 → XP_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, ENST00000474576.5

Conserved Domains (4) summary

PHA03096
Location:157 → 306

PHA03096; p28-like protein; Provisional

cd16730
Location:214 → 274

RING-HC_MKRN1_3; RING finger, HC subclass, found in makorin-1 (MKRN1), makorin-3 (MKRN3), and similar proteins

pfam15815
Location:336 → 416

MKRN1_C; E3 ubiquitin-protein ligase makorin-1, C-terminal

pfam18345
Location:26 → 44

zf_CCCH_4; Zinc finger domain
XM_011515997.4 → XP_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

PHA03096
Location:157 → 306

PHA03096; p28-like protein; Provisional

cd16730
Location:214 → 274

RING-HC_MKRN1_3; RING finger, HC subclass, found in makorin-1 (MKRN1), makorin-3 (MKRN3), and similar proteins

pfam15815
Location:336 → 416

MKRN1_C; E3 ubiquitin-protein ligase makorin-1, C-terminal

pfam18345
Location:26 → 44

zf_CCCH_4; Zinc finger domain
XM_047420099.1 → XP_047276055.1 E3 ubiquitin-protein ligase makorin-1 isoform X2
XM_047420098.1 → XP_047276054.1 E3 ubiquitin-protein ligase makorin-1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

141767185..141793679 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054357727.1 → XP_054213702.1 E3 ubiquitin-protein ligase makorin-1 isoform X1
XM_054357728.1 → XP_054213703.1 E3 ubiquitin-protein ligase makorin-1 isoform X2
XM_054357731.1 → XP_054213706.1 E3 ubiquitin-protein ligase makorin-1 isoform X2
XM_054357730.1 → XP_054213705.1 E3 ubiquitin-protein ligase makorin-1 isoform X2
XM_054357729.1 → XP_054213704.1 E3 ubiquitin-protein ligase makorin-1 isoform X2