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RNF44 ring finger protein 44 [ Homo sapiens (human) ]

Gene ID: 22838, updated on 2-Nov-2024

Summary

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Official Symbol
RNF44provided by HGNC
Official Full Name
ring finger protein 44provided by HGNC
Primary source
HGNC:HGNC:19180
See related
Ensembl:ENSG00000146083 MIM:619283; AllianceGenome:HGNC:19180
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
Summary
The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in spleen (RPKM 19.0), lymph node (RPKM 14.6) and 25 other tissues See more
Orthologs
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Genomic context

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See RNF44 in Genome Data Viewer
Location:
5q35.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (176526712..176543513, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (177071267..177092499, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (175953713..175964403, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ARF like GTPase 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16652 Neighboring gene clathrin light chain B Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:175861163-175861909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23686 Neighboring gene uncharacterized LOC124901142 Neighboring gene Fas associated factor family member 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:175918968-175920167 Neighboring gene MPRA-validated peak5588 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175961121-175961790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16655 Neighboring gene uncharacterized LOC124901143 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23689 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175968985-175969591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16656 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175976615-175977548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175979197-175979830 Neighboring gene RNA, 7SL, cytoplasmic 684, pseudogene Neighboring gene cadherin related family member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:175993117-175994082 Neighboring gene Sharpr-MPRA regulatory region 7457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16659 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16661 Neighboring gene G protein regulated inducer of neurite outgrowth 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. Hypermethylation of HIC2 is a potential prognostic biomarker and tumor suppressor of glioma based on bioinformatics analysis and experiments. Luo F, et al. CNS Neurosci Ther, 2023 Apr. PMID 36650953, Free PMC Article
  2. The ubiquitin ligase STUB1 regulates stability and activity of RUNX1 and RUNX1-RUNX1T1. Yonezawa T, et al. J Biol Chem, 2017 Jul 28. PMID 28536267, Free PMC Article
  3. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Stolk L, et al. Nat Genet, 2012 Jan 22. PMID 22267201, Free PMC Article
  4. [IMAGE: molecular integration of the analysis of the human genome and its expression]. Auffray C, et al. C R Acad Sci III, 1995 Feb. PMID 7757816
  5. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Kikuno R, et al. DNA Res, 1999 Jun 30. PMID 10470851

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1100

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
RING finger protein 44

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)

  1. NM_014901.5 → NP_055716.1  RING finger protein 44

    See identical proteins and their annotated locations for NP_055716.1

    Status: REVIEWED

    Source sequence(s)
    BC039833, BC063297
    Consensus CDS
    CCDS4404.1
    UniProtKB/Swiss-Prot
    B4DYE0, Q7L0R7, Q8ND05, Q9UPQ2
    Related
    ENSP00000274811.4, ENST00000274811.9
    Conserved Domains (1) summary
    cd16472
    Location:377 → 421
    RING-H2_RNF38_like; RING finger, H2 subclass, found in RING finger proteins RNF38, RNF44, and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    176526712..176543513 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416956.1 → XP_047272912.1  RING finger protein 44 isoform X4

  2. XM_047416952.1 → XP_047272908.1  RING finger protein 44 isoform X2

  3. XM_047416949.1 → XP_047272905.1  RING finger protein 44 isoform X1

    UniProtKB/Swiss-Prot
    B4DYE0, Q7L0R7, Q8ND05, Q9UPQ2

  4. XM_011534466.4 → XP_011532768.1  RING finger protein 44 isoform X1

    See identical proteins and their annotated locations for XP_011532768.1

    UniProtKB/Swiss-Prot
    B4DYE0, Q7L0R7, Q8ND05, Q9UPQ2
    Conserved Domains (1) summary
    cd16472
    Location:377 → 421
    RING-H2_RNF38_like; RING finger, H2 subclass, found in RING finger proteins RNF38, RNF44, and similar proteins

  5. XM_047416957.1 → XP_047272913.1  RING finger protein 44 isoform X5

  6. XM_006714832.3 → XP_006714895.1  RING finger protein 44 isoform X4

    Conserved Domains (1) summary
    pfam13639
    Location:333 → 374
    zf-RING_2; Ring finger domain

  7. XM_006714831.3 → XP_006714894.1  RING finger protein 44 isoform X2

    Conserved Domains (1) summary
    cd16472
    Location:374 → 418
    RING-H2_RNF38_like; RING finger, H2 subclass, found in RING finger proteins RNF38, RNF44, and similar proteins

  8. XM_005265840.3 → XP_005265897.1  RING finger protein 44 isoform X1

    See identical proteins and their annotated locations for XP_005265897.1

    UniProtKB/Swiss-Prot
    B4DYE0, Q7L0R7, Q8ND05, Q9UPQ2
    Conserved Domains (1) summary
    cd16472
    Location:377 → 421
    RING-H2_RNF38_like; RING finger, H2 subclass, found in RING finger proteins RNF38, RNF44, and similar proteins

  9. XM_047416958.1 → XP_047272914.1  RING finger protein 44 isoform X5

  10. XM_047416954.1 → XP_047272910.1  RING finger protein 44 isoform X4

  11. XM_047416950.1 → XP_047272906.1  RING finger protein 44 isoform X2

  12. XM_047416955.1 → XP_047272911.1  RING finger protein 44 isoform X4

  13. XM_047416951.1 → XP_047272907.1  RING finger protein 44 isoform X2

  14. XM_005265841.5 → XP_005265898.1  RING finger protein 44 isoform X1

    See identical proteins and their annotated locations for XP_005265898.1

    UniProtKB/Swiss-Prot
    B4DYE0, Q7L0R7, Q8ND05, Q9UPQ2
    Conserved Domains (1) summary
    cd16472
    Location:377 → 421
    RING-H2_RNF38_like; RING finger, H2 subclass, found in RING finger proteins RNF38, RNF44, and similar proteins

  15. XM_005265844.4 → XP_005265901.1  RING finger protein 44 isoform X6

    See identical proteins and their annotated locations for XP_005265901.1

    UniProtKB/Swiss-Prot
    Q7L0R7
    Conserved Domains (1) summary
    cd16472
    Location:296 → 340
    RING-H2_RNF38_like; RING finger, H2 subclass, found in RING finger proteins RNF38, RNF44, and similar proteins

  16. XM_005265843.3 → XP_005265900.1  RING finger protein 44 isoform X6

    See identical proteins and their annotated locations for XP_005265900.1

    UniProtKB/Swiss-Prot
    Q7L0R7
    Conserved Domains (1) summary
    cd16472
    Location:296 → 340
    RING-H2_RNF38_like; RING finger, H2 subclass, found in RING finger proteins RNF38, RNF44, and similar proteins

  17. XM_047416953.1 → XP_047272909.1  RING finger protein 44 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    177071267..177092499 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352078.1 → XP_054208053.1  RING finger protein 44 isoform X1

    UniProtKB/Swiss-Prot
    B4DYE0, Q7L0R7, Q8ND05, Q9UPQ2

  2. XM_054352088.1 → XP_054208063.1  RING finger protein 44 isoform X4

  3. XM_054352083.1 → XP_054208058.1  RING finger protein 44 isoform X2

  4. XM_054352079.1 → XP_054208054.1  RING finger protein 44 isoform X1

    UniProtKB/Swiss-Prot
    B4DYE0, Q7L0R7, Q8ND05, Q9UPQ2

  5. XM_054352076.1 → XP_054208051.1  RING finger protein 44 isoform X1

    UniProtKB/Swiss-Prot
    B4DYE0, Q7L0R7, Q8ND05, Q9UPQ2

  6. XM_054352085.1 → XP_054208060.1  RING finger protein 44 isoform X4

  7. XM_054352089.1 → XP_054208064.1  RING finger protein 44 isoform X5

  8. XM_054352081.1 → XP_054208056.1  RING finger protein 44 isoform X2

  9. XM_054352090.1 → XP_054208065.1  RING finger protein 44 isoform X5

  10. XM_054352086.1 → XP_054208061.1  RING finger protein 44 isoform X4

  11. XM_054352080.1 → XP_054208055.1  RING finger protein 44 isoform X2

  12. XM_054352082.1 → XP_054208057.1  RING finger protein 44 isoform X2

  13. XM_054352087.1 → XP_054208062.1  RING finger protein 44 isoform X4

  14. XM_054352077.1 → XP_054208052.1  RING finger protein 44 isoform X1

    UniProtKB/Swiss-Prot
    B4DYE0, Q7L0R7, Q8ND05, Q9UPQ2

  15. XM_054352091.1 → XP_054208066.1  RING finger protein 44 isoform X6

  16. XM_054352092.1 → XP_054208067.1  RING finger protein 44 isoform X6

  17. XM_054352084.1 → XP_054208059.1  RING finger protein 44 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7L0R7.1 GenPept UniProtKB/Swiss-Prot:Q7L0R7

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