TULP4

TUB like protein 4

Ensembl:: ENSG00000130338
UniProt:: Q9NRJ4
OMIM:: 619442
Synonyms:: KIAA1397, TUSP

Cilia effects upon perturbation of TULP4

Ciliogenesis screen results (4 screens)

Kim2016: Not Reported
Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.06) PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.06) PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:: no spontaneous movement; abnormal urinary bladder morphology; preweaning lethality; incomplete penetrance; complete penetrance; enhanced cued conditioning behavior

Ciliopathy associations

Cranioectodermal Dysplasia (Sensenbrenner)

Subcellular localization

acrosome, flagella, principal piece

Functional category

Metabolism

Function

WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder (PMID: 20817137). Conserved domain in the amino terminus enables some members of the tubby family (TULP3, TULP2 and TUB but not TULP1 and TULP4) to bind to ciliary IFT-A(PMID: 20889716). TULP4 has localized in flagella.

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