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    RTTN rotatin [ Homo sapiens (human) ]

    Gene ID: 25914, updated on 3-Apr-2024

    Summary

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    Official Symbol
    RTTNprovided by HGNC
    Official Full Name
    rotatinprovided by HGNC
    Primary source
    HGNC:HGNC:18654
    See related
    Ensembl:ENSG00000176225 MIM:610436; AllianceGenome:HGNC:18654
    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
    Also known as
    MSSP
    Summary
    This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]
    Expression
    Ubiquitous expression in testis (RPKM 2.7), ovary (RPKM 1.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    18q22.2
    Exon count:
    54
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (70003031..70205687, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (70220081..70422743, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (67670267..67872923, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene docking protein 6 Neighboring gene uncharacterized LOC107985138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:67506461-67506962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13475 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:67602408-67603607 Neighboring gene CD226 molecule Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13481 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:67714790-67715989 Neighboring gene Sharpr-MPRA regulatory region 7597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13484 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:67872991-67873620 Neighboring gene uncharacterized LOC105372180 Neighboring gene uncharacterized LOC124904321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:67904225-67904725 Neighboring gene uncharacterized LOC107985158

    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. Human Microcephaly Protein RTTN Is Required for Proper Mitotic Progression and Correct Spindle Position. Chou EJ, et al. Cells, 2021 Jun 9. PMID 34207628, Free PMC Article
    2. Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42. Zakaria M, et al. Hum Mutat, 2019 Jul. PMID 30927481
    3. Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction. Cavallin M, et al. Eur J Med Genet, 2018 Dec. PMID 30121372
    4. Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. Stouffs K, et al. Eur J Med Genet, 2018 Dec. PMID 29883675
    5. Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis. Grandone A, et al. Clin Genet, 2016 Nov. PMID 26940245

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human Microcephaly Protein RTTN Is Required for Proper Mitotic Progression and Correct Spindle Position.
      Title: Human Microcephaly Protein RTTN Is Required for Proper Mitotic Progression and Correct Spindle Position.
    2. Study reports on a consanguineous family with three adult members with primary microcephaly, developmental delay, primordial dwarfism, and brachydactyly segregating a homozygous splice site variant NM_173630.3:c.5648-5T>A in RTTN. The variant RTTN allele results in a nonhypomorphic skipping of exon 42 and a frameshift [(NP_775901.3:p.Ala1883Glyfs*6)].
      Title: Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.
    3. We here report three individuals from two unrelated families with novel mutations in the RTTN gene. The phenotype consisted of microcephaly, short stature, pachygyria or polymicrogyria, colpocephaly, hypoplasia of the corpus callosum and superior vermis. These findings provide further confirmation of the phenotype related to pathogenic variants in RTTN.
      Title: Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
    4. We identified, by trio based whole exome sequencing, a homozygous missense mutation in the RTTN gene (c.2953A>G; p.(Arg985Gly)) in one Moroccan patient from a consanguineous family.
      Title: Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
    5. Data show that PPP1R35 acts downstream of, and forms a complex with, RTTN, a microcephaly protein required for distal centriole elongation.
      Title: PPP1R35 is a novel centrosomal protein that regulates centriole length in concert with the microcephaly protein RTTN.
    6. RTTN directly interacts with STIL and acts downstream of STIL-mediated centriole assembly, contributing to building full-length centrioles.
      Title: Human microcephaly protein RTTN interacts with STIL and is required to build full-length centrioles.
    7. We found a novel homozygous mutation in RTTN associated with microcephalic PD as well as complex brain malformations and congenital dermatitis, thus expanding the phenotypic spectrum of both RTTN-associated diseases and ciliary dysfunction.
      Title: Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.
    8. RTTN mutations cause primary microcephaly and primordial dwarfism in humans.
      Title: RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
    9. RTTN mutations therefore link aberrant ciliary function to abnormal development and organization of the cortex in human individuals.
      Title: RTTN mutations link primary cilia function to organization of the human cerebral cortex.
    10. Study characterizing mouse rotatin gene.
      Title: Rotatin is a novel gene required for axial rotation and left-right specification in mouse embryos.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Microcephalic primordial dwarfism due to RTTN deficiency
    MedGen: C3553831 OMIM: 614833 GeneReviews: Not available
    		Compare labs

    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

    • FLJ26356, FLJ39085, DKFZp434G145

    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 centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centriole-centriole cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ciliary basal body organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rotatin

    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_033104.1 RefSeqGene

      Range
      5040..207696
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318520.2 → NP_001305449.1  rotatin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon in its 5' UTR, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AC011930, AC021701, AK096404, AL117635, BC046222, BC143723
      UniProtKB/TrEMBL
      A0A7I2V670

    2. NM_173630.4 → NP_775901.3  rotatin isoform 1

      See identical proteins and their annotated locations for NP_775901.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC011930, AK096404, BC046222, BC047602, BF507420
      Consensus CDS
      CCDS42443.1
      UniProtKB/Swiss-Prot
      Q68CS9, Q6ZRL8, Q6ZTK3, Q86TG4, Q86VV8, Q8N8N8, Q8TBQ4, Q96IN9, Q9UFJ4
      Related
      ENSP00000491507.1, ENST00000640769.2
      Conserved Domains (1) summary
      pfam14726
      Location:16 → 112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      70003031..70205687 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437468.1 → XP_047293424.1  rotatin isoform X5

    2. XM_017025693.2 → XP_016881182.1  rotatin isoform X3

    3. XM_011525903.3 → XP_011524205.1  rotatin isoform X4

      Conserved Domains (1) summary
      pfam14726
      Location:16 → 112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

    4. XM_011525902.3 → XP_011524204.1  rotatin isoform X2

      Conserved Domains (1) summary
      pfam14726
      Location:16 → 112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

    5. XM_006722434.4 → XP_006722497.1  rotatin isoform X1

      Conserved Domains (1) summary
      pfam14726
      Location:16 → 112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

    6. XM_017025694.2 → XP_016881183.1  rotatin isoform X7

    7. XM_017025695.2 → XP_016881184.1  rotatin isoform X9

    8. XM_011525906.3 → XP_011524208.1  rotatin isoform X11

    9. XM_047437471.1 → XP_047293427.1  rotatin isoform X15

    10. XM_006722435.4 → XP_006722498.1  rotatin isoform X6

      Conserved Domains (1) summary
      pfam14726
      Location:16 → 112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

    11. XM_011525904.4 → XP_011524206.1  rotatin isoform X8

      Conserved Domains (1) summary
      pfam14726
      Location:16 → 112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

    12. XM_011525905.3 → XP_011524207.1  rotatin isoform X10

      Conserved Domains (1) summary
      pfam14726
      Location:16 → 112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

    13. XM_011525907.3 → XP_011524209.1  rotatin isoform X12

      Conserved Domains (1) summary
      pfam14726
      Location:16 → 112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

    14. XM_047437469.1 → XP_047293425.1  rotatin isoform X13

    15. XM_047437470.1 → XP_047293426.1  rotatin isoform X14

    RNA

    1. XR_430072.4 RNA Sequence

      Related
      ENST00000581161.5

    2. XR_007066140.1 RNA Sequence

      Related
      ENST00000638251.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      70220081..70422743 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318481.1 → XP_054174456.1  rotatin isoform X5

    2. XM_054318479.1 → XP_054174454.1  rotatin isoform X3

    3. XM_054318480.1 → XP_054174455.1  rotatin isoform X4

    4. XM_054318478.1 → XP_054174453.1  rotatin isoform X2

    5. XM_054318477.1 → XP_054174452.1  rotatin isoform X1

    6. XM_054318485.1 → XP_054174460.1  rotatin isoform X16

    7. XM_054318483.1 → XP_054174458.1  rotatin isoform X7

    8. XM_054318486.1 → XP_054174461.1  rotatin isoform X16

    9. XM_054318487.1 → XP_054174462.1  rotatin isoform X9

    10. XM_054318489.1 → XP_054174464.1  rotatin isoform X11

    11. XM_054318493.1 → XP_054174468.1  rotatin isoform X15

    12. XM_054318482.1 → XP_054174457.1  rotatin isoform X6

    13. XM_054318484.1 → XP_054174459.1  rotatin isoform X8

    14. XM_054318488.1 → XP_054174463.1  rotatin isoform X10

    15. XM_054318490.1 → XP_054174465.1  rotatin isoform X12

    16. XM_054318491.1 → XP_054174466.1  rotatin isoform X13

    17. XM_054318492.1 → XP_054174467.1  rotatin isoform X14

    RNA

    1. XR_008484995.1 RNA Sequence

    2. XR_008484996.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VV8.3 GenPept UniProtKB/Swiss-Prot:Q86VV8

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