Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9Z2D3 (DFNA5_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Non-syndromic hearing impairment protein 5 homolog
Gene names
Name:Dfna5
Synonyms:Dfna5h
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length512 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53 By similarity.

Sequence similarities

Belongs to the gasdermin family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 512512Non-syndromic hearing impairment protein 5 homolog
PRO_0000148179

Sequences

Sequence LengthMass (Da)Tools
Q9Z2D3 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 13AFB8627773C4A5

FASTA51256,631
        10         20         30         40         50         60 
MFAKATRNFL KEVDAGGDLI SVSHLNDSDK LQLLSLVTKK KRYWCWQRPK YQILSATLED 

        70         80         90        100        110        120 
VLTEGHCLSP VVVESDFVKY ESKCENHKSG AIGTVVGKVK LNVGGKGVVE SHSSFGTLRK 

       130        140        150        160        170        180 
QEVDVQQLIQ DAVKRTVNMD NLVLQQVLES RNEVLCVLTQ KIMTTQKCVI SEHVQSEETC 

       190        200        210        220        230        240 
GGMVGIQTKT IQVSATEDGT VTTDTNVVLE IPAATTIAYG IMELFVKQDG QFEFCLLQGK 

       250        260        270        280        290        300 
HGGFEHERKL DSVYLDPLAY REFAFLDMLD GGQGISSQDG PLRVVKQATL HLERSFHPFA 

       310        320        330        340        350        360 
VLPAQQQRAL FCVLQKILFD EELLRALEQV CDDVAGGLWS SQAVLAMEEL TDSQQQDLTA 

       370        380        390        400        410        420 
FLQLVGYRIQ GEHPGPQDEV SNQKLFATAY FLVSALAEMP DNATVFLGTC CKLHVISSLC 

       430        440        450        460        470        480 
CLLHALSDDS VCDFHNPTLA PLRDTERFGI VQRLFASADI ALERMQFSAK ATILKDSCIF 

       490        500        510 
PLILHITLSG LSTLSKEHEE ELCQSGHATG QD 

« Hide

References

« Hide 'large scale' references
[1]"Nonsyndromic hearing impairment is associated with a mutation in DFNA5."
Van Laer L., Huizing E.H., Verstreken M., van Zuijlen D., Wauters J.G., Bossuyt P.J., Van de Heyning P., McGuirt W.T., Smith R.J.H., Willems P.J., Legan P.K., Richardson G.P., Van Camp G.
Nat. Genet. 20:194-197(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Cochlea.
[2]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Strain: C57BL/6J.
Tissue: Testis.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF073309 mRNA. Translation: AAC69325.1.
AK016561 mRNA. Translation: BAB30305.1.
RefSeqNP_061239.1. NM_018769.3.
XP_006506464.1. XM_006506401.1.
UniGeneMm.248361.

3D structure databases

ProteinModelPortalQ9Z2D3.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ9Z2D3.

Proteomic databases

PaxDbQ9Z2D3.
PRIDEQ9Z2D3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000031845; ENSMUSP00000031845; ENSMUSG00000029821.
ENSMUST00000170142; ENSMUSP00000126759; ENSMUSG00000029821.
GeneID54722.
KEGGmmu:54722.
UCSCuc009bwx.1. mouse.

Organism-specific databases

CTD1687.
MGIMGI:1889850. Dfna5.

Phylogenomic databases

eggNOGNOG40145.
GeneTreeENSGT00530000063574.
HOGENOMHOG000065726.
HOVERGENHBG051340.
InParanoidQ9Z2D3.
OMAVVVESDF.
PhylomeDBQ9Z2D3.
TreeFamTF352821.

Gene expression databases

ArrayExpressQ9Z2D3.
BgeeQ9Z2D3.
GenevestigatorQ9Z2D3.

Family and domain databases

InterProIPR007677. Gasdermin.
[Graphical view]
PfamPF04598. Gasdermin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio311574.
PROQ9Z2D3.
SOURCESearch...

Entry information

Entry nameDFNA5_MOUSE
AccessionPrimary (citable) accession number: Q9Z2D3
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: May 1, 1999
Last modified: April 16, 2014
This is version 87 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot