Format

Send to:

Choose Destination

RNFT1 ring finger protein, transmembrane 1 [ Homo sapiens (human) ]

Gene ID: 51136, updated on 24-Nov-2020

Summary

Official Symbol
RNFT1provided by HGNC
Official Full Name
ring finger protein, transmembrane 1provided by HGNC
Primary source
HGNC:HGNC:30206
See related
Ensembl:ENSG00000189050 MIM:615172
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
PTD016
Expression
Broad expression in testis (RPKM 54.5), appendix (RPKM 8.9) and 22 other tissues See more
Orthologs

Genomic context

See RNFT1 in Genome Data Viewer
Location:
17q23.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (59952240..59964740, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58029723..58042117, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tubulin delta 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit B8 pseudogene 2 Neighboring gene ribosomal protein S6 kinase B1 Neighboring gene ribosomal protein S29 pseudogene 21 Neighboring gene TBC1D3P1-DHX40P1 readthrough, transcribed pseudogene Neighboring gene RNFT1 divergent transcript Neighboring gene DEAH-box helicase 40 pseudogene 1 Neighboring gene TBC1 domain family member 3 pseudogene 1

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111090

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
positive regulation of ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of ERAD pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein autoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase RNFT1
Names
RING finger and transmembrane domain-containing protein 1
NP_057209.3

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_016125.4NP_057209.3  E3 ubiquitin-protein ligase RNFT1

    See identical proteins and their annotated locations for NP_057209.3

    Status: VALIDATED

    Source sequence(s)
    AC004686, BC088365, DB456985
    Consensus CDS
    CCDS11622.2
    UniProtKB/Swiss-Prot
    Q5M7Z0
    Related
    ENSP00000304670.8, ENST00000305783.13
    Conserved Domains (1) summary
    cd00162
    Location:375416
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    59952240..59964740 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center