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    RBM44 RNA binding motif protein 44 [ Homo sapiens (human) ]

    Gene ID: 375316, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RBM44provided by HGNC
    Official Full Name
    RNA binding motif protein 44provided by HGNC
    Primary source
    HGNC:HGNC:24756
    See related
    Ensembl:ENSG00000177483 AllianceGenome:HGNC:24756
    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
    Summary
    Predicted to enable mRNA 3'-UTR binding activity and protein homodimerization activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in cytoplasm and intercellular bridge. Predicted to be part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 9.6) and bone marrow (RPKM 0.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See RBM44 in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (237798779..237842805)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (238288049..238332805)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (238707422..238751448)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238503899-238504617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238504725-238505226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238512736-238513239 Neighboring gene RAB17 divergent transcript Neighboring gene VISTA enhancer hs1945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238539637-238540136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238540139-238540700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238558724-238559224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238559225-238559725 Neighboring gene LRR binding FLII interacting protein 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:238571326-238571867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238572854-238573422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238581723-238582348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238583717-238584263 Neighboring gene Sharpr-MPRA regulatory region 636 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238595001-238595502 Neighboring gene uncharacterized LOC124906128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238595503-238596002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238599723-238600598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17373 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238611455-238612335 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:238612336-238613215 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238626179-238626695 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238630967-238631468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238631469-238631968 Neighboring gene Sharpr-MPRA regulatory region 7631 Neighboring gene Sharpr-MPRA regulatory region 7730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238653055-238653580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17376 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:238671072-238671284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238766078-238766866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238766867-238767653 Neighboring gene small nucleolar RNA SNORD55/SNORD39 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238791275-238791776 Neighboring gene MPRA-validated peak4098 silencer Neighboring gene receptor activity modifying protein 1 Neighboring gene VISTA enhancer hs1968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17378 Neighboring gene MPRA-validated peak4100 silencer Neighboring gene uncharacterized LOC105373960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12482 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_57230

    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. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
    2. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) 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

    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

    • FLJ40411

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intercellular bridge ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    RNA-binding 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_001080504.3 → NP_001073973.3  RNA-binding protein 44

      Status: VALIDATED

      Source sequence(s)
      AC012076
      Consensus CDS
      CCDS46554.2
      UniProtKB/Swiss-Prot
      A0A0A0MR46, A0AUW3, Q6ZP01
      Related
      ENSP00000321179.5, ENST00000316997.9
      Conserved Domains (1) summary
      cl17169
      Location:829 → 904
      RRM_SF; RNA recognition motif (RRM) superfamily

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      237798779..237842805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004055.2 → XP_016859544.1  RNA-binding protein 44 isoform X1

    2. XM_017004054.2 → XP_016859543.1  RNA-binding protein 44 isoform X1

    3. XM_005246075.2 → XP_005246132.1  RNA-binding protein 44 isoform X2

      See identical proteins and their annotated locations for XP_005246132.1

      Conserved Domains (1) summary
      cd12248
      Location:827 → 900
      RRM_RBM44; RNA recognition motif in RNA-binding protein 44 (RBM44) and similar proteins

    4. XM_011511152.3 → XP_011509454.1  RNA-binding protein 44 isoform X3

    5. XM_017004057.2 → XP_016859546.1  RNA-binding protein 44 isoform X4

      UniProtKB/TrEMBL
      Q8N7S3

    6. XM_011511153.3 → XP_011509455.1  RNA-binding protein 44 isoform X5

      UniProtKB/TrEMBL
      Q8N7S3

    7. XM_017004056.2 → XP_016859545.1  RNA-binding protein 44 isoform X1

    8. XM_017004058.3 → XP_016859547.1  RNA-binding protein 44 isoform X6

    9. XM_011511155.2 → XP_011509457.1  RNA-binding protein 44 isoform X7

      See identical proteins and their annotated locations for XP_011509457.1

      UniProtKB/Swiss-Prot
      Q6ZP01
      Conserved Domains (1) summary
      cd12248
      Location:14 → 87
      RRM_RBM44; RNA recognition motif in RNA-binding protein 44 (RBM44) and similar proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      238288049..238332805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341919.1 → XP_054197894.1  RNA-binding protein 44 isoform X1

    2. XM_054341917.1 → XP_054197892.1  RNA-binding protein 44 isoform X1

    3. XM_054341920.1 → XP_054197895.1  RNA-binding protein 44 isoform X2

    4. XM_054341921.1 → XP_054197896.1  RNA-binding protein 44 isoform X3

    5. XM_054341922.1 → XP_054197897.1  RNA-binding protein 44 isoform X4

    6. XM_054341923.1 → XP_054197898.1  RNA-binding protein 44 isoform X5

    7. XM_054341918.1 → XP_054197893.1  RNA-binding protein 44 isoform X1

    8. XM_054341924.1 → XP_054197899.1  RNA-binding protein 44 isoform X6

    9. XM_054341925.1 → XP_054197900.1  RNA-binding protein 44 isoform X7

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_198852.1: Suppressed sequence

      Description
      NM_198852.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZP01.4 GenPept UniProtKB/Swiss-Prot:Q6ZP01

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