DNAAF9
Dynein axonemal assembly factor 9
Also known as: C20orf194, DAAF9_HUMAN, DKFZp434N061
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5TEA3
- Gene
- DNAAF9
- Ensembl
- ENSG00000088854
- Chromosome
- 20
- Canonical length
- 1177 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoli fibrillar center,Cytosol
OverviewNCBI Gene
This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]
Canonical amino-acid sequenceUniProt
1177 residues, UniProt reviewed canonical sequence.
>Q5TEA3|DNAAF9
1 MDVYPPRRQG LPRARSPGGS SRGSPSVSCS RLRQVQSILT QSSKSRPDGI LCILGIDSRY
61 NEGCRELANY LLFGLYNQNT SDFEKTGFSE EVLDDVIILI KSDSVHLYCN PVNFRYLLPY
121 VAHWRNLHFH CMTENEYEDE EAAEEFKITS FVDMVRDCSR IGIPYSSQGH LQIFDMFVVE
181 KWPIVQAFAL EGIGGDGFFT MKYELQDVSL NLWNVYSKMD PMSLESLLSD DLVAFEHQWT
241 SFFANFDTEI PFLLELSESQ AGEPFRSYFS HGMISSHITE NSPNRQPFVL FGNHSTRENL
301 NAGNFNFPSE GHLVRSTGPG GSFAKHMVAQ CVSPKGPLAC SRTYFFGATH VPYLGGDSKL
361 PKKTEQIRLL SQIYAAVIEA VLAGIACYAK TSSLTKAKEV AEQTLGSGLD SFELIPFKAA
421 LRSKMTFHIH AVNNQGRIVP LDSEDSLSFV KTACMAVYDI PDLLGGNGCL GSVVFSESFL
481 TSQILVKEKD GTVTTETSSV VLTAAVPRFC SWLVEDNEVK LSEKTQQAVR GDESFLGTYL
541 TGGEGAYLYS SNLQSWPEEG NVHFFSSGLL FSHCRHRSII ISKDHMNSIS FYDGDSTSTV
601 AALLIDFKSS LLPHLPVHFH GSSNFLMIAL FPKSKIYQAF YSEVFSLWKQ QDNSGISLKV
661 IQEDGLSVEQ KRLHSSAQKL FSALSQPAGE KRSSLKLLSA KLPELDWFLQ HFAISSISQE
721 PVMRTHLPVL LQQAEINTTH RIESDKVIIS IVTGLPGCHA SELCAFLVTL HKECGRWMVY
781 RQIMDSSECF HAAHFQRYLS SALEAQQNRS ARQSAYIRKK TRLLVVLQGY TDVIDVVQAL
841 QTHPDSNVKA SFTIGAITAC VEPMSCYMEH RFLFPKCLDQ CSQGLVSNVV FTSHTTEQRH
901 PLLVQLQSLI RAANPAAAFI LAENGIVTRN EDIELILSEN SFSSPEMLRS RYLMYPGWYE
961 GKLNAGSVYP LMVQICVWFG RPLEKTRFVA KCKAIQSSIK PSPFSGNIYH ILGKVKFSDS
1021 ERTMEVCYNT LANSLSIMPV LEGPTPPPDS KSVSQDSSGQ QECYLVFIGC SLKEDSIKDW
1081 LRQSAKQKPQ RKALKTRGML TQQEIRSIHV KRHLEPLPAG YFYNGTQFVN FFGDKTDFHP
1141 LMDQFMNDYV EEANREIEKY NQELEQQEYH DLFELKPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DNAAF9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Unknown
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 30 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 30 nTPM
- spinal cord: 23 nTPM
- basal ganglia: 19 nTPM
- cerebral cortex: 18 nTPM
- amygdala: 17 nTPM
- hypothalamus: 16 nTPM
Single-cell type
- distal convoluted tubule cells: 653 nCPM
- cone photoreceptor cells: 487 nCPM
- podocytes: 464 nCPM
- renal connecting tubule cells: 441 nCPM
- renal collecting duct intercalated cells: 373 nCPM
- bergmann glia: 371 nCPM
Immune cell
- plasmacytoid DC: 1 nTPM
- myeloid DC: 0.9 nTPM
- classical monocyte: 0.8 nTPM
- gdT-cell: 0.5 nTPM
- basophil: 0.4 nTPM
- intermediate monocyte: 0.4 nTPM
Brain region
- white matter: 52 nTPM
- midbrain: 49 nTPM
- basal ganglia: 47 nTPM
- medulla oblongata: 46 nTPM
- thalamus: 45 nTPM
- pons: 45 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DNAAF9.
Disease | ImmuneIEDB
Conditions an epitope on DNAAF9 was assayed in.
- viral infectious disease T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.6
- gnomAD pLI
- 0
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
Protein domainsUniProt · Pfam · InterPro
- Dynein axonemal assembly factor 9 DNAAF9
- DAAF9, CobW C-like domain
- DAAF9, N-terminal domain
- DAAF9, domain 2
- DAAF9, PH domain
- DAAF9, pita-bread-like domain
- Dynein axonemal assembly factor 9 N-terminal domain
- DAAF9 CobW_C-like domain
- DAAF9 Pita bread like domain
- DAAF9 domain
- DAAF9 PH domain
InteractionsUniProt · HPA
Protein binding partners of DNAAF9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DNAAF9 as an antibody target. Whether an autoantibody or antibody against DNAAF9 could matter depends on whether native DNAAF9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DNAAF9 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DNAAF9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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