KATNIP

Protein identityUniProt · HPA

UniProt accession

O60303

Gene

KATNIP

Ensembl

ENSG00000047578

Chromosome

16

Canonical length

1618 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Primary cilium,Centriolar satellite,Basal body

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1618 residues, UniProt reviewed canonical sequence.

>O60303|KATNIP
     1  MDGQTLRKAE RSWSCSREKK EGYAKDMVTD FDEKHDEYLI LLQQRNRILK HLKSKDPVQL
    61  RLEHLEQGFS VYVNGANSEL KSSPRKAIHS DFSRSASHTE GTHDYGRRTL FREAEEALRR
   121  SSRTAPSKVQ RRGWHQKSVQ IRTEAGPRLH IEPPVDYSDD FELCGDVTLQ ANNTSEDRPQ
   181  ELRRSLELSV NLQRKQKDCS SDEYDSIEED ILSEPEPEDP ALVGHPRHDR PPSSGDWTQK
   241  DVHGEQETEG RSSPGPDTLV VLEFNPASKS HKRERNLSAK RKDNAEVFVP TKPEPNLTPQ
   301  APAVFPDQER MCSRPGSRRE RPLSATRKTL CEAEYPEEDA SAVLQAIQVE NAALQRALLS
   361  RKAEQPASPL QDAEGPPAKP WTSLLEEKEE TLELLPITTA TTTQEPAGAA GGARAINQAM
   421  DRIGLLGSRQ QQKLLKVLQA VESDSAHLGR VVSPTKEQVS DTEDKQRMRA DEIKDAIYVT
   481  MEILSNWGNS WWVGLTEVEF FDLNDTKLYV SPHDVDIRNT ATPGELGRLV NRNLAGKKDS
   541  SPWTCPFHPP LQLFFVIRNT RQLGDFHLAK IKVRNYWTAD GDLDIGAKNV KLYVNRNLIF
   601  NGKLDKGDRE APADHSILVD QKNEKSEQLE EAMNAHSEES KGTHEMAGAS GDKELGLGCS
   661  PPAETLADAK LSSQGNVSGK RKNSTNCRKD SLSQLEEYLR LSAVPTSMGD MPSAPATSPP
   721  VKCPPVHEEP SLIQQLENLM GRKICEPPGK TPSWLQPSPT GKDRKQGGRK PKPLWLSPEK
   781  PLAWKGRLPS DDVIGEGPGE TEARDKGLRH EPGWGTSRSV NTKERPQRAT TKVHSDDSDI
   841  FNQPPNRERP ASGRRGSRKD AGSSSHGDDQ PASREDTWSS RTPSRSRWRS EQEHTLHESW
   901  SSLSAFDRSH RGRISNTELP GDILDELLQQ KSSRHSDLPP SKKGEQPGLS RGQDGYSGET
   961  DAGGDFKIPV LPYGQRLVID IKSTWGDRHY VGLNGIEIFS SKGEPVQISN IKADPPDINI
  1021  LPAYGKDPRV VTNLIDGVNR TQDDMHVWLA PFTRGRSHSI TIDFTHPCHV ALIRIWNYNK
  1081  SRIHSFRGVK DITMLLDTQC IFEGEIAKAS GTLAGAPEHF GDTILFTTDD DILEAIFYSD
  1141  EMFDLDVGSL DSLQDEEAMR RPSTADGEGD ERPFTQAGLG ADERIPELEL PSSSPVPQVT
  1201  TPEPGIYHGI CLQLNFTASW GDLHYLGLTG LEVVGKEGQA LPIHLHQISA SPRDLNELPE
  1261  YSDDSRALDK LIDGTNITME DEHMWLIPFS PGLDHVVTIR LDRAESIAGL RFWNYNKSPE
  1321  DTYRGAKIVH VSLDGLCVSP PEGFLIRKGP GNCHFDFAQE ILFVDYLRAQ LLPQPARRLD
  1381  MRSLECASMD YEAPLMPCGF IFQFQLLTSW GDPYYIGLTG LELYDERGEK IPLSENNIAA
  1441  FPDSVNSLEG VGGDVRTPDK LIDQVNDTSD GRHMWLAPIL PGLVNRVYVI FDLPTTVSMI
  1501  KLWNYAKTPH RGVKEFGLLV DDLLVYNGIL AMVSHLVGGI LPTCEPTVPY HTILFTEDRD
  1561  IRHQEKHTTI SNQAEDQDVQ MMNENQIITN AKRKQSVVDP ALRPKTCISE KETRRRRC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KATNIP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.5

Highest tissue expression

29 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KATNIP.

Disease | AllUniProt

Conditions KATNIP is implicated in, by any mechanism.

• Joubert syndrome 26 (JBTS26) MIM:616784

Disease | GeneticClinVar

44 pathogenic / likely-pathogenic of 827 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Joubert syndrome 26
• KATNIP-related disorder
• Joubert syndrome
• See cases
• Ovarian serous cystadenocarcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.91

gnomAD pLI

0

DepMap mean gene effect

-0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cerebrospinal fluid circulation
• negative regulation of motile cilium assembly

Molecular functions

• intraciliary transport particle B binding
• microtubule binding
• tubulin binding

Cellular components

• 9+2 motile cilium
• axoneme
• centriolar satellite
• ciliary basal body
• ciliary base
• cilium
• extracellular space
• nucleoplasm
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Katanin-interacting protein
• KATNIP domain
• Domain of unknown function (DUF4457)

KeywordsUniProt

• Cell projection
• Ciliopathy
• Coiled coil
• Cytoplasm
• Cytoskeleton
• Joubert syndrome
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of KATNIP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• KATNAL1
• KATNB1
• KATNBL1
• CILK1
• MAK