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    RIBC1 RIB43A domain with coiled-coils 1 [ Homo sapiens (human) ]

    Gene ID: 158787, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RIBC1provided by HGNC
    Official Full Name
    RIB43A domain with coiled-coils 1provided by HGNC
    Primary source
    HGNC:HGNC:26537
    See related
    Ensembl:ENSG00000158423 AllianceGenome:HGNC:26537
    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
    2610028I09Rik
    Summary
    Predicted to be involved in flagellated sperm motility. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Predicted to be active in axonemal A tubule inner sheath and sperm flagellum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 7.7), lung (RPKM 1.1) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RIBC1 in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (53422873..53431115)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (52709049..52717458)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (53449822..53458063)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905191 Neighboring gene structural maintenance of chromosomes 1A Neighboring gene NANOG hESC enhancer GRCh37_chrX:53426719-53427254 Neighboring gene microRNA 6857 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:53448761-53449734 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:53449735-53450706 Neighboring gene hydroxysteroid 17-beta dehydrogenase 10 Neighboring gene TIPIN pseudogene 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. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Froyen G, et al. Am J Hum Genet, 2008 Feb. PMID 18252223, Free PMC Article
    2. A transcript finishing initiative for closing gaps in the human transcriptome. Sogayar MC, et al. Genome Res, 2004 Jul. PMID 15197164, Free PMC Article
    3. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. Hou P, et al. Cancer Res, 2017 Aug 15. PMID 28625976, Free PMC Article
    4. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    5. The human cytoplasmic dynein interactome reveals novel activators of motility. Redwine WB, et al. Elife, 2017 Jul 18. PMID 28718761, Free PMC Article

    See all (16) 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

    • FLJ32783, MGC46233

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axonemal A tubule inner sheath ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    RIB43A-like with coiled-coils protein 1

    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.

    Genomic

    1. NG_033076.2 RefSeqGene

      Range
      5019..13261
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031745.5 → NP_001026915.1  RIB43A-like with coiled-coils protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001026915.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK304179, BC036767, BF433577, CA433728
      Consensus CDS
      CCDS35299.1
      UniProtKB/Swiss-Prot
      B4E297, E9PDU2, Q5H931, Q8N443, Q96A80
      UniProtKB/TrEMBL
      A8KA06
      Related
      ENSP00000364476.3, ENST00000375327.6
      Conserved Domains (1) summary
      pfam05914
      Location:9 → 379
      RIB43A; RIB43A

    2. NM_001267053.4 → NP_001253982.1  RIB43A-like with coiled-coils protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001253982.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon and its 3' terminal exon extends past a splice site used in variant 1, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AI127598, AK304179, BF433577, CA433728, CF272701
      Consensus CDS
      CCDS59168.1
      UniProtKB/Swiss-Prot
      Q8N443
      Related
      ENSP00000401463.2, ENST00000414955.6
      Conserved Domains (1) summary
      pfam05914
      Location:9 → 238
      RIB43A

    3. NM_144968.4 → NP_659405.1  RIB43A-like with coiled-coils protein 1 isoform 2

      See identical proteins and their annotated locations for NP_659405.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' coding exons and its 3' terminal exon extends past a splice site used in variant 1, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK057345, AK304179
      Consensus CDS
      CCDS14353.1
      UniProtKB/TrEMBL
      A8K2T1
      Related
      ENSP00000402080.1, ENST00000457095.5
      Conserved Domains (1) summary
      pfam05914
      Location:9 → 180
      RIB43A; RIB43A

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      53422873..53431115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261988.5 → XP_005262045.1  RIB43A-like with coiled-coils protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005262045.1

      UniProtKB/Swiss-Prot
      B4E297, E9PDU2, Q5H931, Q8N443, Q96A80
      UniProtKB/TrEMBL
      A8KA06
      Conserved Domains (1) summary
      pfam05914
      Location:9 → 379
      RIB43A; RIB43A

    2. XM_005261990.5 → XP_005262047.1  RIB43A-like with coiled-coils protein 1 isoform X2

      Conserved Domains (1) summary
      pfam05914
      Location:9 → 264
      RIB43A; RIB43A

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      52709049..52717458
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326543.1 → XP_054182518.1  RIB43A-like with coiled-coils protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B4E297, E9PDU2, Q5H931, Q8N443, Q96A80

    2. XM_054326544.1 → XP_054182519.1  RIB43A-like with coiled-coils protein 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N443.1 GenPept UniProtKB/Swiss-Prot:Q8N443

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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