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DNAAF1

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

RNA tissue category
HPA:Group enriched (fallopian tube, testis)
GTEx:Tissue enhanced (testis)
FANTOM5:Tissue enhanced (testis)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in testis, fallopian tube and respiratory epithelia.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Presumed off target binding observed and disregarded. Pending retesting.

Reliability score

 Uncertain based on 1 antibody.
HPA041166
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Fallopian tube

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (fallopian tube, testis)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)

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
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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]
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 725 aa
80 kDa 		No 0
DNAAF1-008
ENSP00000457899
ENST00000564928
H3BV09 [Direct mapping]
Dynein assembly factor 1, axonemal
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Predicted intracellular proteins
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 58 aa
6.1 kDa 		No 0
DNAAF1-009
ENSP00000454960
ENST00000569735
H3BNQ4 [Direct mapping]
Dynein assembly factor 1, axonemal
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Predicted intracellular proteins
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 190 aa
20.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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