DNAAF1

GENERAL INFORMATION

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Gene name

DNAAF1

Gene description

Dynein, axonemal, assembly factor 1

Protein class

Cytoskeleton related proteins
Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (fallopian tube, testis)
GTEx:Tissue enhanced (fallopian tube, testis)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in testis, fallopian tube and respiratory epithelia.

ANTIBODY RELIABILITY

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Data reliability
description

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

Data reliability

Uncertain based on 1 antibody.
HPA041166
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Fallopian tube



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (fallopian tube, testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (fallopian tube, testis)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

123872

UniProt

Q8NEP3 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NEP3

Antibodypedia

DNAAF1 antibodies


PROTEIN BROWSER

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ENST00000378553
 
ENST00000564928
 
ENST00000569735
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DNAAF1-001 ENSP00000367815
ENST00000378553
Q8NEP3
Show all »
Show » Show » 725 80 No 0
DNAAF1-008 ENSP00000457899
ENST00000564928
Show » 58 6.1 No 0
DNAAF1-009 ENSP00000454960
ENST00000569735
H3BNQ4
Show all »
Show » 190 20.3 No 0