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

Gene ID: 158787, updated on 11-Apr-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
Expression
Biased expression in testis (RPKM 7.7), lung (RPKM 1.1) and 5 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (53422873..53431115)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (52709049..52717458)
105.20220307 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
  • 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 
Component Evidence Code Pubs
located_in axonemal A tubule inner sheath IEA
Inferred from Electronic Annotation
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_2023_10

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

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