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Q8NEP3

- DAAF1_HUMAN

UniProt

Q8NEP3 - DAAF1_HUMAN

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Protein

Dynein assembly factor 1, axonemal

Gene

DNAAF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli.3 Publications

GO - Molecular functioni

  1. dynein binding Source: UniProtKB

GO - Biological processi

  1. axonemal dynein complex assembly Source: UniProtKB
  2. cilium morphogenesis Source: UniProtKB
  3. cilium movement Source: BHF-UCL
  4. determination of digestive tract left/right asymmetry Source: BHF-UCL
  5. determination of liver left/right asymmetry Source: BHF-UCL
  6. determination of pancreatic left/right asymmetry Source: BHF-UCL
  7. epithelial cilium movement involved in determination of left/right asymmetry Source: BHF-UCL
  8. heart looping Source: BHF-UCL
  9. inner dynein arm assembly Source: BHF-UCL
  10. left/right pattern formation Source: BHF-UCL
  11. lung development Source: BHF-UCL
  12. motile cilium assembly Source: BHF-UCL
  13. outer dynein arm assembly Source: BHF-UCL
  14. regulation of cilium beat frequency Source: BHF-UCL
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein assembly factor 1, axonemal
Alternative name(s):
Leucine-rich repeat-containing protein 50
Gene namesi
Name:DNAAF1
Synonyms:LRRC50
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:30539. DNAAF1.

Subcellular locationi

Cell projectioncilium 1 Publication. Cytoplasm 1 Publication. Cytoplasmcytoskeletonspindle pole 1 Publication
Note: In HEK293T cells, it is diffusely cytoplasmic and concentrates at the mitotic spindle poles, while in MDCK cells, it localizes in the cilium. In vivo, this protein is probably restricted to the cilium.

GO - Cellular componenti

  1. axoneme Source: UniProtKB
  2. cytoplasm Source: BHF-UCL
  3. cytoskeleton Source: UniProtKB-KW
  4. nucleus Source: HPA
  5. plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 13 (CILD13) [MIM:613193]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 11776Missing in CILD13. 1 Publication
VAR_063097Add
BLAST
Natural varianti175 – 1751L → R in CILD13. 1 Publication
VAR_063098

Keywords - Diseasei

Ciliopathy, Disease mutation, Primary ciliary dyskinesia

Organism-specific databases

MIMi613193. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA142671510.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 725725Dynein assembly factor 1, axonemalPRO_0000232889Add
BLAST

Proteomic databases

PaxDbiQ8NEP3.
PRIDEiQ8NEP3.

PTM databases

PhosphoSiteiQ8NEP3.

Expressioni

Tissue specificityi

Mainly expressed in trachea and testis.1 Publication

Gene expression databases

BgeeiQ8NEP3.
CleanExiHS_LRRC50.
ExpressionAtlasiQ8NEP3. baseline and differential.
GenevestigatoriQ8NEP3.

Organism-specific databases

HPAiHPA041166.

Interactioni

Protein-protein interaction databases

BioGridi125839. 2 interactions.
STRINGi9606.ENSP00000367815.

Structurei

3D structure databases

ProteinModelPortaliQ8NEP3.
SMRiQ8NEP3. Positions 134-298.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati107 – 12923LRR 1Add
BLAST
Repeati130 – 15122LRR 2Add
BLAST
Repeati152 – 17322LRR 3Add
BLAST
Repeati174 – 19522LRR 4Add
BLAST
Repeati196 – 21722LRR 5Add
BLAST
Repeati221 – 24222LRR 6Add
BLAST
Domaini256 – 29439LRRCTAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi391 – 513123Pro-richAdd
BLAST

Sequence similaritiesi

Belongs to the DNAAF1 family.Curated
Contains 6 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiCOG4886.
GeneTreeiENSGT00730000110223.
HOVERGENiHBG066969.
InParanoidiQ8NEP3.
OMAiCLFLQVN.
OrthoDBiEOG7HQN7P.
PhylomeDBiQ8NEP3.
TreeFamiTF315818.

Family and domain databases

InterProiIPR027734. DNAAF1.
IPR001611. Leu-rich_rpt.
[Graphical view]
PANTHERiPTHR10588:SF208. PTHR10588:SF208. 1 hit.
PROSITEiPS51450. LRR. 6 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8NEP3-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MHPEPSEPAT GGAAELDCAQ EPGVEESAGD HGSAGRGGCK EEINDPKEIC
60 70 80 90 100
VGSSDTSYHS QQKQSGDNGS GGHFAHPRED REDRGPRMTK SSLQKLCKQH
110 120 130 140 150
KLYITPALND TLYLHFKGFD RIENLEEYTG LRCLWLQSNG IQKIENLEAQ
160 170 180 190 200
TELRCLFLQM NLLRKIENLE PLQKLDALNL SNNYIKTIEN LSCLPVLNTL
210 220 230 240 250
QMAHNHLETV EDIQHLQECL RLCVLDLSHN KLSDPEILSI LESMPDLRVL
260 270 280 290 300
NLMGNPVIRQ IPNYRRTVTV RLKHLTYLDD RPVFPKDRAC AEAWARGGYA
310 320 330 340 350
AEKEERQQWE SRERKKITDS IEALAMIKQR AEERKRQRES QERGEMTSSD
360 370 380 390 400
DGENVPASAE GKEEPPGDRE TRQKMELFVK ESFEAKDELC PEKPSGEEPP
410 420 430 440 450
VEAKREDGGP EPEGTLPAET LLLSSPVEVK GEDGDGEPEG TLPAEAPPPP
460 470 480 490 500
PPVEVKGEDG DQEPEGTLPA ETLLLSPPVK VKGEDGDREP EGTLPAEAPP
510 520 530 540 550
PPPLGAAREE PTPQAVATEG VFVTELDGTR TEDLETIRLE TKETFCIDDL
560 570 580 590 600
PDLEDDDETG KSLEDQNMCF PKIEVISSLS DDSDPELDYT SLPVLENLPT
610 620 630 640 650
DTLSNIFAVS KDTSKAARVP FTDIFKKEAK RDLEIRKQDT KSPRPLIQEL
660 670 680 690 700
SDEDPSGQLL MPPTCQRDAA PLTSSGDRDS DFLAASSPVP TESAATPPET
710 720
CVGVAQPSQA LPTWDLTAFP APKAS
Length:725
Mass (Da):80,026
Last modified:November 25, 2008 - v5
Checksum:iCFDBF86796FA61B0
GO
Isoform 2 (identifier: Q8NEP3-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-252: Missing.
     343-343: R → RGMRSAEDNSPRVPLRL

Note: No experimental confirmation available.

Show »
Length:489
Mass (Da):53,531
Checksum:i5661910591E86359
GO
Isoform 3 (identifier: Q8NEP3-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     409-725: GPEPEGTLPA...LTAFPAPKAS → DPATVTACEG

Note: No experimental confirmation available.

Show »
Length:418
Mass (Da):47,267
Checksum:i2BF7BA4C8CE55708
GO

Sequence cautioni

The sequence BAB71645.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti307 – 3071Q → E in CAH10390. (PubMed:17974005)Curated
Sequence conflicti366 – 3661P → L in CAH10394. (PubMed:17974005)Curated
Sequence conflicti457 – 4571G → R in BAG58765. (PubMed:15616553)Curated
Sequence conflicti485 – 4851D → G in CAH10394. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 11776Missing in CILD13. 1 Publication
VAR_063097Add
BLAST
Natural varianti175 – 1751L → R in CILD13. 1 Publication
VAR_063098
Natural varianti387 – 3871D → E.
Corresponds to variant rs36062234 [ dbSNP | Ensembl ].
VAR_047662
Natural varianti393 – 3931K → R.3 Publications
Corresponds to variant rs17856705 [ dbSNP | Ensembl ].
VAR_047663
Natural varianti432 – 4321E → D.
Corresponds to variant rs9972733 [ dbSNP | Ensembl ].
VAR_047664
Natural varianti502 – 5021P → L.3 Publications
Corresponds to variant rs11644164 [ dbSNP | Ensembl ].
VAR_047665
Natural varianti545 – 5451F → C.1 Publication
Corresponds to variant rs17856706 [ dbSNP | Ensembl ].
VAR_047666
Natural varianti633 – 6331L → S.2 Publications
Corresponds to variant rs2288020 [ dbSNP | Ensembl ].
VAR_047667
Natural varianti659 – 6591L → P.2 Publications
Corresponds to variant rs2288022 [ dbSNP | Ensembl ].
VAR_047668
Natural varianti659 – 6591L → V.
Corresponds to variant rs2288021 [ dbSNP | Ensembl ].
VAR_047669
Natural varianti675 – 6751S → T.2 Publications
Corresponds to variant rs2288023 [ dbSNP | Ensembl ].
VAR_047670
Natural varianti703 – 7031G → R.
Corresponds to variant rs4150188 [ dbSNP | Ensembl ].
VAR_047671
Natural varianti712 – 7121P → A.
Corresponds to variant rs4150187 [ dbSNP | Ensembl ].
VAR_047672

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 252252Missing in isoform 2. 1 PublicationVSP_036354Add
BLAST
Alternative sequencei343 – 3431R → RGMRSAEDNSPRVPLRL in isoform 2. 1 PublicationVSP_036355
Alternative sequencei409 – 725317GPEPE…APKAS → DPATVTACEG in isoform 3. 1 PublicationVSP_036356Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK057238 mRNA. Translation: BAB71392.1.
AK058059 mRNA. Translation: BAB71645.1. Different initiation.
AK295990 mRNA. Translation: BAG58765.1.
AC009123 Genomic DNA. No translation available.
AC040169 Genomic DNA. No translation available.
BC024009 mRNA. Translation: AAH24009.3.
AL137334 mRNA. Translation: CAH10706.1.
AL833328 mRNA. Translation: CAH10390.1.
AL833336 mRNA. Translation: CAH10394.1.
CCDSiCCDS10943.2. [Q8NEP3-1]
RefSeqiNP_848547.4. NM_178452.4. [Q8NEP3-1]
UniGeneiHs.310164.

Genome annotation databases

EnsembliENST00000378553; ENSP00000367815; ENSG00000154099. [Q8NEP3-1]
ENST00000563093; ENSP00000457373; ENSG00000154099. [Q8NEP3-3]
GeneIDi123872.
KEGGihsa:123872.
UCSCiuc002fhl.4. human. [Q8NEP3-1]
uc010vnw.2. human. [Q8NEP3-2]

Polymorphism databases

DMDMi215274261.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK057238 mRNA. Translation: BAB71392.1 .
AK058059 mRNA. Translation: BAB71645.1 . Different initiation.
AK295990 mRNA. Translation: BAG58765.1 .
AC009123 Genomic DNA. No translation available.
AC040169 Genomic DNA. No translation available.
BC024009 mRNA. Translation: AAH24009.3 .
AL137334 mRNA. Translation: CAH10706.1 .
AL833328 mRNA. Translation: CAH10390.1 .
AL833336 mRNA. Translation: CAH10394.1 .
CCDSi CCDS10943.2. [Q8NEP3-1 ]
RefSeqi NP_848547.4. NM_178452.4. [Q8NEP3-1 ]
UniGenei Hs.310164.

3D structure databases

ProteinModelPortali Q8NEP3.
SMRi Q8NEP3. Positions 134-298.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125839. 2 interactions.
STRINGi 9606.ENSP00000367815.

PTM databases

PhosphoSitei Q8NEP3.

Polymorphism databases

DMDMi 215274261.

Proteomic databases

PaxDbi Q8NEP3.
PRIDEi Q8NEP3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378553 ; ENSP00000367815 ; ENSG00000154099 . [Q8NEP3-1 ]
ENST00000563093 ; ENSP00000457373 ; ENSG00000154099 . [Q8NEP3-3 ]
GeneIDi 123872.
KEGGi hsa:123872.
UCSCi uc002fhl.4. human. [Q8NEP3-1 ]
uc010vnw.2. human. [Q8NEP3-2 ]

Organism-specific databases

CTDi 123872.
GeneCardsi GC16P084179.
GeneReviewsi DNAAF1.
H-InvDB HIX0013289.
HGNCi HGNC:30539. DNAAF1.
HPAi HPA041166.
MIMi 613190. gene.
613193. phenotype.
neXtProti NX_Q8NEP3.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA142671510.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG4886.
GeneTreei ENSGT00730000110223.
HOVERGENi HBG066969.
InParanoidi Q8NEP3.
OMAi CLFLQVN.
OrthoDBi EOG7HQN7P.
PhylomeDBi Q8NEP3.
TreeFami TF315818.

Miscellaneous databases

GeneWikii LRRC50.
GenomeRNAii 123872.
NextBioi 81173.
PROi Q8NEP3.
SOURCEi Search...

Gene expression databases

Bgeei Q8NEP3.
CleanExi HS_LRRC50.
ExpressionAtlasi Q8NEP3. baseline and differential.
Genevestigatori Q8NEP3.

Family and domain databases

InterProi IPR027734. DNAAF1.
IPR001611. Leu-rich_rpt.
[Graphical view ]
PANTHERi PTHR10588:SF208. PTHR10588:SF208. 1 hit.
PROSITEi PS51450. LRR. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANTS ARG-393; LEU-502; SER-633; PRO-659 AND THR-675.
    Tissue: Subthalamic nucleus and Testis.
  2. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ARG-393; LEU-502; CYS-545; SER-633; PRO-659 AND THR-675.
    Tissue: Testis.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-548 AND 567-725 (ISOFORM 1), VARIANTS ARG-393 AND LEU-502.
    Tissue: Testis.
  5. "LRRC50, a conserved ciliary protein implicated in polycystic kidney disease."
    van Rooijen E., Giles R.H., Voest E.E., van Rooijen C., Schulte-Merker S., van Eeden F.J.
    J. Am. Soc. Nephrol. 19:1128-1138(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  6. Cited for: FUNCTION, INVOLVEMENT IN CILD13.
  7. "Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia."
    Duquesnoy P., Escudier E., Vincensini L., Freshour J., Bridoux A.M., Coste A., Deschildre A., de Blic J., Legendre M., Montantin G., Tenreiro H., Vojtek A.M., Loussert C., Clement A., Escalier D., Bastin P., Mitchell D.R., Amselem S.
    Am. J. Hum. Genet. 85:890-896(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY, VARIANTS CILD13 42-GLU--LYS-117 DEL AND ARG-175.

Entry informationi

Entry nameiDAAF1_HUMAN
AccessioniPrimary (citable) accession number: Q8NEP3
Secondary accession number(s): B4DJA3
, Q69YI8, Q69YJ0, Q69YW5, Q96LP3, Q96MB6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: November 25, 2008
Last modified: October 29, 2014
This is version 107 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3