Cell atlas - DNAAF1 - The Human Protein Atlas

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DNAAF1

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol
	Nuclear speckles
	Plasma membrane

Human cell
	Cytosol
	Nucleoplasm
	Plasma Membrane

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GENERAL INFORMATION
Gene name	DNAAF1
Gene description	Dynein, axonemal, assembly factor 1
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the plasma membrane & cytosol. In addition localized to the nuclear speckles.
RNA cell category	Cell line enhanced (Karpas-707, U-266/70, U-266/84)
Protein evidence	Evidence at protein level
Main location	Localized to the Plasma membrane (approved), Cytosol (approved)
Additional location	In addition localized to the Nuclear speckles (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA041166
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (Karpas-707, U-266/70, U-266/84) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the plasma membrane & cytosol. In addition localized to the nuclear speckles.

Main location

Plasma membrane (approved), Cytosol (approved)

Additional location

Nuclear speckles (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA041166	A-431	Nuclear speckles
			Plasma membrane
			Cytosol
	HPA041166	U-2 OS	Nuclear speckles
			Plasma membrane
			Cytosol
	HPA041166	U-251 MG	Nuclear speckles
			Plasma membrane
			Cytosol

GENE INFORMATION
Gene name	DNAAF1 (HGNC Symbol)
Synonyms	CILD13, FLJ25330, LRRC50, ODA7
Description	Dynein, axonemal, assembly factor 1 (HGNC Symbol)
Entrez gene summary	The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13.[provided by RefSeq, May 2010]
Chromosome	16
Cytoband	q24.1
Chromosome location (bp)	84145287 - 84178767
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000154099 (version 83.38)
Entrez gene	123872
UniProt	Q8NEP3 (UniProt - Evidence at protein level)
neXtProt	NX_Q8NEP3
Antibodypedia	DNAAF1 antibodies

PROTEIN BROWSER

DNAAF1-001	DNAAF1-008	DNAAF1-009

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
DNAAF1-001 ENSP00000367815 ENST00000378553	Q8NEP3 [Direct mapping] Dynein assembly factor 1, axonemal Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0000922 [spindle pole] GO:0001947 [heart looping] GO:0003341 [cilium movement] GO:0003356 [regulation of cilium beat frequency] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005886 [plasma membrane] GO:0005930 [axoneme] GO:0030324 [lung development] GO:0035469 [determination of pancreatic left/right asymmetry] GO:0036158 [outer dynein arm assembly] GO:0036159 [inner dynein arm assembly] GO:0044458 [motile cilium assembly] GO:0045502 [dynein binding] GO:0060271 [cilium morphogenesis] GO:0060287 [epithelial cilium movement involved in determination of left/right asymmetry] GO:0060972 [left/right pattern formation] GO:0070286 [axonemal dynein complex assembly] GO:0071907 [determination of digestive tract left/right asymmetry] GO:0071910 [determination of liver left/right asymmetry] Show all	725 aa 80 kDa	No	0
DNAAF1-008 ENSP00000457899 ENST00000564928	H3BV09 [Direct mapping] Dynein assembly factor 1, axonemal Show all	Predicted intracellular proteins Show all		58 aa 6.1 kDa	No	0
DNAAF1-009 ENSP00000454960 ENST00000569735	H3BNQ4 [Direct mapping] Dynein assembly factor 1, axonemal Show all	Predicted intracellular proteins Show all		190 aa 20.3 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.