RNF103 ring finger protein 103 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNF103provided by HGNC
Official Full Name: ring finger protein 103provided by HGNC
Primary source: HGNC:HGNC:12859
See related: Ensembl:ENSG00000239305 MIM:602507; AllianceGenome:HGNC:12859
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: KF1; KF-1; HKF-1; ZFP103; ZFP-103
Summary: The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. The protein is a ubiquitin ligase that functions in the endoplasmic reticulum-associated degradation pathway. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream CHMP3 (charged multivesicular body protein 3) gene. [provided by RefSeq, Oct 2011]
Expression: Ubiquitous expression in bone marrow (RPKM 15.1), small intestine (RPKM 12.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p11.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (86603393..86623877, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (86605396..86625879, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (86830516..86851000, complement)

Chromosome 2 - NC_000002.12 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?

Analysis reveals that the main determinants of selectivity between ubiquitin ligases RNF103 and E2 ubiquitin-conjugating enzymes resides on ring domains, rather than on the E2s.
Title: Analysis of electrostatic contributions to the selectivity of interactions between RING-finger domains and ubiquitin-conjugating enzymes.
Kf-1 is an ER ubiquitin ligase involved in the endoplasmic reticulum-associated degradation pathway.
Title: Ubiquitin ligase Kf-1 is involved in the endoplasmic reticulum-associated degradation pathway.

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

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

ksks91 (e-PCR)
- UniSTS:514560

MARC_24177-24178:1033563974:1 (e-PCR)
- UniSTS:268851

D8S2279 (e-PCR)
- UniSTS:473907

RH98920 (e-PCR)
- UniSTS:90693

D1S1425 (e-PCR)
- UniSTS:149621

L17877 (e-PCR)
- UniSTS:61334

D11S3316 (e-PCR)
- UniSTS:152558

Readthrough RNF103-CHMP3

Readthrough gene: RNF103-CHMP3, Included gene: CHMP3

Homology

Homologs of the RNF103 gene: The RNF103 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 340 organisms have orthologs with human gene RNF103
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	TAS Traceable Author Statement more info
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in endoplasmic reticulum mannose trimming	TAS Traceable Author Statement more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in ubiquitin-dependent ERAD pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum quality control compartment	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase RNF103

Names: RING-type E3 ubiquitin transferase RNF103; zinc finger protein 103 homolog; zinc finger protein expressed in cerebellum

NP_001185880.1

EC 2.3.2.27

NP_001185881.1

EC 2.3.2.27

NP_005658.1

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_001198951.1 → NP_001185880.1 E3 ubiquitin-protein ligase RNF103 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

BC110333, BQ018198, DA816879

UniProtKB/Swiss-Prot

O00237

Conserved Domains (1) summary

cd00162
Location:616 → 659

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_001198952.2 → NP_001185881.1 E3 ubiquitin-protein ligase RNF103 isoform 3

See identical proteins and their annotated locations for NP_001185881.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains alternate 3' exon structure and uses an early stop codon, compared to variant 1. The encoded isoform (3) is shorter at the C-terminus, compared to isoform 1.

Source sequence(s)

AI150469, AW964704, BC022477, BC035053, CA312650, DA816879

UniProtKB/Swiss-Prot

O00237
NM_005667.4 → NP_005658.1 E3 ubiquitin-protein ligase RNF103 isoform 1

See identical proteins and their annotated locations for NP_005658.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AW964704, BC035053, BC110333, DA816879

Consensus CDS

CCDS33237.1

UniProtKB/Swiss-Prot

O00237, Q8IVB9

Related

ENSP00000237455.4, ENST00000237455.5

Conserved Domains (1) summary

cd00162
Location:620 → 663

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 ...