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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

Gene LinkOut

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