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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
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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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