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KATNIP katanin interacting protein [ Homo sapiens (human) ]

Gene ID: 23247, updated on 11-Jun-2021

Summary

Official Symbol
KATNIPprovided by HGNC
Official Full Name
katanin interacting proteinprovided by HGNC
Primary source
HGNC:HGNC:29068
See related
Ensembl:ENSG00000047578 MIM:616650
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
JBTS26; KIAA0556
Summary
This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in thyroid (RPKM 9.1), testis (RPKM 6.5) and 25 other tissues See more
Orthologs
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Genomic context

See KATNIP in Genome Data Viewer
Location:
16p12.1
Exon count:
31
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (27550128..27780371)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (27561465..27791665)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene interleukin 21 receptor Neighboring gene IL21R antisense RNA 1 Neighboring gene general transcription factor IIIC subunit 1 Neighboring gene uncharacterized LOC107984874 Neighboring gene uncharacterized LOC100128079 Neighboring gene uncharacterized LOC105371157 Neighboring gene GSG1 like Neighboring gene RNA, U6 small nuclear 159, pseudogene Neighboring gene RNA, U6 small nuclear 1241, pseudogene

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

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cerebrospinal fluid circulation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space HDA PubMed 

General protein information

Preferred Names
katanin-interacting protein

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_046731.1 RefSeqGene

    Range
    5001..235225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015202.5NP_056017.4  katanin-interacting protein

    Status: REVIEWED

    Source sequence(s)
    AC002551, AC008732, AC016597, AC025275, AC092330
    Consensus CDS
    CCDS32415.1
    Related
    ENSP00000261588.4, ENST00000261588.9
    Conserved Domains (1) summary
    pfam14652
    Location:12141533
    DUF4457; Domain of unknown function (DUF4457)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    27550128..27780371
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255201.3XP_005255258.1  katanin-interacting protein isoform X1

    Conserved Domains (2) summary
    pfam14652
    Location:12751594
    DUF4457; Domain of unknown function (DUF4457)
    pfam15483
    Location:7851004
    DUF4641; Domain of unknown function (DUF4641)
  2. XM_005255202.3XP_005255259.1  katanin-interacting protein isoform X2

    Conserved Domains (2) summary
    pfam14652
    Location:12571576
    DUF4457; Domain of unknown function (DUF4457)
    pfam15483
    Location:767986
    DUF4641; Domain of unknown function (DUF4641)
  3. XM_011545775.2XP_011544077.1  katanin-interacting protein isoform X4

    Conserved Domains (2) summary
    pfam14652
    Location:12351554
    DUF4457; Domain of unknown function (DUF4457)
    pfam15483
    Location:745964
    DUF4641; Domain of unknown function (DUF4641)
  4. XM_005255203.3XP_005255260.1  katanin-interacting protein isoform X5

    Conserved Domains (2) summary
    pfam14652
    Location:12321551
    DUF4457; Domain of unknown function (DUF4457)
    pfam15483
    Location:742961
    DUF4641; Domain of unknown function (DUF4641)
  5. XM_017023085.1XP_016878574.1  katanin-interacting protein isoform X8

  6. XM_011545776.2XP_011544078.1  katanin-interacting protein isoform X6

    Conserved Domains (2) summary
    pfam14652
    Location:12311550
    DUF4457; Domain of unknown function (DUF4457)
    pfam15483
    Location:741960
    DUF4641; Domain of unknown function (DUF4641)
  7. XM_024450216.1XP_024305984.1  katanin-interacting protein isoform X7

    Conserved Domains (1) summary
    pfam14652
    Location:12131532
    DUF4457; Domain of unknown function (DUF4457)
  8. XM_006721025.3XP_006721088.1  katanin-interacting protein isoform X10

    Conserved Domains (2) summary
    pfam14652
    Location:11881507
    DUF4457; Domain of unknown function (DUF4457)
    pfam15483
    Location:698917
    DUF4641; Domain of unknown function (DUF4641)
  9. XM_017023087.1XP_016878576.1  katanin-interacting protein isoform X11

  10. XM_005255206.3XP_005255263.1  katanin-interacting protein isoform X13

    Conserved Domains (2) summary
    pfam14652
    Location:10401187
    DUF4457; Domain of unknown function (DUF4457)
    pfam15483
    Location:785929
    DUF4641; Domain of unknown function (DUF4641)
  11. XM_017023086.1XP_016878575.1  katanin-interacting protein isoform X9

  12. XM_011545774.2XP_011544076.1  katanin-interacting protein isoform X3

    See identical proteins and their annotated locations for XP_011544076.1

    Conserved Domains (2) summary
    pfam14652
    Location:12491568
    DUF4457; Domain of unknown function (DUF4457)
    pfam15483
    Location:759978
    DUF4641; Domain of unknown function (DUF4641)
  13. XM_011545773.2XP_011544075.1  katanin-interacting protein isoform X3

    See identical proteins and their annotated locations for XP_011544075.1

    Conserved Domains (2) summary
    pfam14652
    Location:12491568
    DUF4457; Domain of unknown function (DUF4457)
    pfam15483
    Location:759978
    DUF4641; Domain of unknown function (DUF4641)
  14. XM_024450217.1XP_024305985.1  katanin-interacting protein isoform X12

    Conserved Domains (1) summary
    pfam14652
    Location:10531372
    DUF4457; Domain of unknown function (DUF4457)
  15. XM_017023088.1XP_016878577.1  katanin-interacting protein isoform X14

    Conserved Domains (2) summary
    pfam14652
    Location:8401159
    DUF4457; Domain of unknown function (DUF4457)
    pfam15483
    Location:350588
    DUF4641; Domain of unknown function (DUF4641)
  16. XM_005255208.2XP_005255265.1  katanin-interacting protein isoform X15

    Conserved Domains (2) summary
    pfam14652
    Location:8071126
    DUF4457; Domain of unknown function (DUF4457)
    pfam15483
    Location:317555
    DUF4641; Domain of unknown function (DUF4641)
  17. XM_011545777.2XP_011544079.1  katanin-interacting protein isoform X16

    Conserved Domains (2) summary
    pfam14652
    Location:582901
    DUF4457; Domain of unknown function (DUF4457)
    pfam15483
    Location:92311
    DUF4641; Domain of unknown function (DUF4641)
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