Format

Send to:

Choose Destination

RTTN rotatin [ Homo sapiens (human) ]

Gene ID: 25914, updated on 5-Jul-2020

Summary

Official Symbol
RTTNprovided by HGNC
Official Full Name
rotatinprovided by HGNC
Primary source
HGNC:HGNC:18654
See related
Ensembl:ENSG00000176225 MIM:610436
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

Genomic context

See RTTN in Genome Data Viewer
Location:
18q22.2
Exon count:
55
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (70003031..70205726, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (67671040..67872962, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene docking protein 6 Neighboring gene uncharacterized LOC107985138 Neighboring gene CD226 molecule Neighboring gene uncharacterized LOC105372180 Neighboring gene uncharacterized LOC107985158

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26356, FLJ39085, DKFZp434G145

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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_001318520.2NP_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/Swiss-Prot
    Q86VV8
  2. NM_173630.4NP_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
    Q86VV8
    Related
    ENSP00000491507.1, ENST00000640769.2
    Conserved Domains (1) summary
    pfam14726
    Location:16112
    RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    70003031..70205726 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025693.1XP_016881182.1  rotatin isoform X3

  2. XM_011525903.2XP_011524205.1  rotatin isoform X4

    Conserved Domains (1) summary
    pfam14726
    Location:16112
    RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
  3. XM_011525902.2XP_011524204.1  rotatin isoform X2

    Conserved Domains (1) summary
    pfam14726
    Location:16112
    RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
  4. XM_006722434.3XP_006722497.1  rotatin isoform X1

    Related
    ENSP00000255674.7, ENST00000255674.11
    Conserved Domains (1) summary
    pfam14726
    Location:16112
    RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
  5. XM_017025696.1XP_016881185.1  rotatin isoform X13

  6. XM_024451139.1XP_024306907.1  rotatin isoform X8

  7. XM_017025694.1XP_016881183.1  rotatin isoform X6

  8. XM_024451140.1XP_024306908.1  rotatin isoform X8

  9. XM_017025695.1XP_016881184.1  rotatin isoform X9

  10. XM_011525906.2XP_011524208.1  rotatin isoform X11

  11. XM_006722435.3XP_006722498.1  rotatin isoform X5

    Conserved Domains (1) summary
    pfam14726
    Location:16112
    RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
  12. XM_011525904.3XP_011524206.1  rotatin isoform X7

    Conserved Domains (1) summary
    pfam14726
    Location:16112
    RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
  13. XM_011525905.2XP_011524207.1  rotatin isoform X10

    Conserved Domains (1) summary
    pfam14726
    Location:16112
    RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
  14. XM_011525907.2XP_011524209.1  rotatin isoform X12

    Conserved Domains (1) summary
    pfam14726
    Location:16112
    RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning
  15. XM_011525908.3XP_011524210.1  rotatin isoform X14

    Conserved Domains (1) summary
    pfam14726
    Location:16112
    RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

RNA

  1. XR_430072.3 RNA Sequence

    Related
    ENST00000581161.5
  2. XR_935213.2 RNA Sequence

    Related
    ENST00000638251.1
Support Center