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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
    mouse all
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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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