Q9D439

PR
Gene name
Cfap53
Protein name
Cilia- and flagella-associated protein 53
Names
Coiled-coil domain-containing protein 11
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:74453
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

87-504 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

4 structures for Q9D439

Entry ID Method Resolution Chain Position Source
8I7R EM 650 A G/H 1-514 PDB
8IYJ EM 350 A 3/4 1-514 PDB
8TO0 EM 770 A 3/4 1-514 PDB
AF-Q9D439-F1 Predicted AlphaFoldDB

25 variants for Q9D439

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3389489882 11 R>M No EVA
rs3389467459 13 F>L No EVA
rs3408771315 96 E>* No EVA
rs223809954 159 E>D No EVA
rs3389467435 173 E>D No EVA
rs222181643 199 H>Q No EVA
rs237014024 203 R>K No EVA
rs3408944007 243 A>T No EVA
rs3389489854 244 Q>* No EVA
rs254230680 258 I>V No EVA
rs3389510443 283 E>D No EVA
rs3389510433 339 Q>* No EVA
rs3389418934 345 Y>C No EVA
rs254459157 377 R>Q No EVA
rs237338170 395 N>S No EVA
rs3409132422 403 E>D No EVA
rs3389519279 425 S>G No EVA
rs3389458410 427 K>N No EVA
rs3389503006 428 V>E No EVA
rs232653983 444 A>T No EVA
rs3389467446 460 Q>R No EVA
rs224952687 471 Q>R No EVA
rs260668417 492 S>A No EVA
rs3389418973 499 Q>H No EVA
rs3389510420 501 V>L No EVA

No associated diseases with Q9D439

1 regional properties for Q9D439

Type Name Position InterPro Accession
domain Trichohyalin-plectin-homology domain 158 - 489 IPR043597

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton, cilium axoneme
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite
  • Cytoplasm, cytoskeleton, spindle pole
  • Cell projection, cilium, flagellum
  • Cytoplasm, cytoskeleton
  • In tracheal cell cilia, localizes prominently to both centriolar satellites and axonemes (PubMed:33347437)
  • Tightly associated with microtubules in tracheal cilia (PubMed:33347437)
  • In embryonic node cells, localizes to the base of the node cilia at the centriolar satellites and, to a lesser extent, to the cilium axoneme (PubMed:33347437)
  • Localizes to centriolar satellites through G1, S phase, G2 and mitosis (By similarity)
  • Enriched on the spindle poles in mitosis (By similarity)
  • Relocalizes from the centriolar satellite to the ciliary transition zone upon ciliogenesis (By similarity)
  • In skin fibroblast cells, locates predominantly to the centriole with much lower levels associated with the actin cytoskeleton (By similarity)
  • Localizes to the sperm flagellum and manchette (PubMed:34124066)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
9+0 motile cilium A motile cilium where the axoneme has a ring of nine outer microtubule doublets but no central microtubules (and is therefore called a 9+0 axoneme).
9+2 motile cilium A motile cilium where the axoneme has a ring of nine outer microtubule doublets plus two central microtubules (and is therefore called a 9+2 axoneme).
axonemal microtubule A microtubule in the axoneme of a eukaryotic cilium or flagellum; an axoneme contains nine modified doublet microtubules, which may or may not surround a pair of single microtubules.
axoneme The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements.
centriolar satellite A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
sperm flagellum A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

8 GO annotations of biological process

Name Definition
cerebrospinal fluid circulation The neurological system process driven by motile cilia on ependymal cells of the brain by which cerebrospinal fluid circulates from the sites of secretion to the sites of absorption. In ventricular cavities, the flow is unidirectional and rostrocaudal, in subarachnoid spaces, the flow is multi-directional.
cilium assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
cilium movement The directed, self-propelled movement of a cilium.
determination of left/right symmetry The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry.
epithelial cilium movement involved in determination of left/right asymmetry The movement of cilia of epithelial cells of the Left Right Organizer (LRO), also referred to as the node in mouse or the Kupffer's vesicle in zebrafish, resulting in the leftward fluid flow across the LRO and generation or transport of a signal which determines asymmetry in an organism's body plan with respect to the left and right halves.
establishment of localization in cell Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation.
flagellated sperm motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm.
protein localization to motile cilium A process in which a protein is transported to, or maintained in, a location within a motile cilium.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3TVW5 Tchp Trichoplein keratin filament-binding protein Mus musculus (Mouse) PR
10 20 30 40 50 60
MYSQQFGTVP REFKGPTPKA VIIRAKPPKA QRAEQHLKRI QRSYHKYHTT LASIKSNEEN
70 80 90 100 110 120
RLKCDWIQRN NHKTFDSLVQ ARVQDAMQGF VINTEERRNK LRELLASEEN EYFSEMQLKG
130 140 150 160 170 180
ETIEEKKDKM RERTKLLREK KEKERQEFVA EKLDQQFRER CEELRTKLAS IHEKKVVEER
190 200 210 220 230 240
NAQIEFNKEL KRQKLVEEHL FARLWEEDRL AKERREAQEE KRQRELVQNT RLGLDAQVTS
250 260 270 280 290 300
IQAQRQGARR MKEEEARILE QNKAQIKRED EQEKLQKQKR RQETRSSLKK AVQDKIESMQ
310 320 330 340 350 360
REYREDLDLN MKLVGRALQD LQDEADKKKQ KREEMGREQK IYNDYLMQRR EEEKAQEKEL
370 380 390 400 410 420
NRLLEDIKAK KLAEKDRELA LQRAARKQLM NEVMNTRKLQ VQERLQRKLR EQEELALHEQ
430 440 450 460 470 480
RISESLKVLH QEDMEDFARR CALAEEYRNQ LQMQIAHQQQ AREAEKEEER QEFEAGLAAN
490 500 510
KACLDKIQRI LSENQALSQN VHPMRRGYPD KPPL