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O60443 (DFNA5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 107. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Non-syndromic hearing impairment protein 5
Alternative name(s):
Inversely correlated with estrogen receptor expression 1
Short name=ICERE-1
Gene names
Name:DFNA5
Synonyms:ICERE1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length496 AA.
Sequence statusComplete.
Protein existenceEvidence at protein 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. Ref.11 Ref.12 Ref.15

Tissue specificity

Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.

Involvement in disease

Deafness, autosomal dominant, 5 (DFNA5) [MIM:600994]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Is a tumor suppressor gene with an important role in major types of tumors. Could be a valuable molecular marker in cancer.

Sequence similarities

Belongs to the gasdermin family.

Sequence caution

The sequence AAB83938.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence AAC39635.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60443-1)

Also known as: Long;

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.
Isoform 2 (identifier: O60443-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     1-395: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: O60443-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-164: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 496496Non-syndromic hearing impairment protein 5
PRO_0000148178

Natural variations

Alternative sequence1 – 395395Missing in isoform 2.
VSP_004190
Alternative sequence1 – 164164Missing in isoform 3.
VSP_044276
Natural variant1421P → T. Ref.7
Corresponds to variant rs754554 [ dbSNP | Ensembl ].
VAR_030824
Natural variant1741M → T.
Corresponds to variant rs876306 [ dbSNP | Ensembl ].
VAR_053102
Natural variant2071V → M.
Corresponds to variant rs12540919 [ dbSNP | Ensembl ].
VAR_030825

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified August 1, 1999. Version 2.
Checksum: A407C9AC31AA716B

FASTA49654,555
        10         20         30         40         50         60 
MFAKATRNFL REVDADGDLI AVSNLNDSDK LQLLSLVTKK KRFWCWQRPK YQFLSLTLGD 

        70         80         90        100        110        120 
VLIEDQFPSP VVVESDFVKY EGKFANHVSG TLETALGKVK LNLGGSSRVE SQSSFGTLRK 

       130        140        150        160        170        180 
QEVDLQQLIR DSAERTINLR NPVLQQVLEG RNEVLCVLTQ KITTMQKCVI SEHMQVEEKC 

       190        200        210        220        230        240 
GGIVGIQTKT VQVSATEDGN VTKDSNVVLE IPAATTIAYG VIELYVKLDG QFEFCLLRGK 

       250        260        270        280        290        300 
QGGFENKKRI DSVYLDPLVF REFAFIDMPD AAHGISSQDG PLSVLKQATL LLERNFHPFA 

       310        320        330        340        350        360 
ELPEPQQTAL SDIFQAVLFD DELLMVLEPV CDDLVSGLSP TVAVLGELKP RQQQDLVAFL 

       370        380        390        400        410        420 
QLVGCSLQGG CPGPEDAGSK QLFMTAYFLV SALAEMPDSA AALLGTCCKL QIIPTLCHLL 

       430        440        450        460        470        480 
RALSDDGVSD LEDPTLTPLK DTERFGIVQR LFASADISLE RLKSSVKAVI LKDSKVFPLL 

       490 
LCITLNGLCA LGREHS 

« Hide

Isoform 2 (Short) [UniParc].

Checksum: 31462F171F9DB7B8
Show »

FASTA10110,906
Isoform 3 [UniParc].

Checksum: 5F4C0AD8EE2734F6
Show »

FASTA33236,043

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] (ISOFORM 1), INVOLVEMENT IN DFNA5.
Tissue: Cochlea.
[2]Van Laer L., Van Camp G.
Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]Mei G., Yu W., Gibbs R.A.
Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[4]"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. expand/collapse author list , 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 1 AND 3).
Tissue: Amygdala.
[5]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-142.
[8]"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).
[9]"Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas."
Thompson D.A., Weigel R.J.
Eur. J. Biochem. 252:169-177(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-496 (ISOFORM 1).
Tissue: Mammary gland.
[10]Thompson D.A.
Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
Cited for: SEQUENCE REVISION TO C-TERMINUS.
[11]"The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage."
Masuda Y., Futamura M., Kamino H., Nakamura Y., Kitamura N., Ohnishi S., Miyamoto Y., Ichikawa H., Ohta T., Ohki M., Kiyono T., Egami H., Baba H., Arakawa H.
J. Hum. Genet. 51:652-664(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN TP53-MEDIATED CELLULAR RESPONSE.
[12]"Aberrant promoter methylation and tumor suppressive activity of the DFNA5 gene in colorectal carcinoma."
Kim M.S., Chang X., Yamashita K., Nagpal J.K., Baek J.H., Wu G., Trink B., Ratovitski E.A., Mori M., Sidransky D.
Oncogene 27:3624-3634(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN COLORECTAL CARCINOMA.
[13]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[14]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein."
Op de Beeck K., Van Camp G., Thys S., Cools N., Callebaut I., Vrijens K., Van Nassauw L., Van Tendeloo V.F., Timmermans J.P., Van Laer L.
Eur. J. Hum. Genet. 19:965-973(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN APOPTOSIS.
[16]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF073308 mRNA. Translation: AAC69324.1.
AF075171 mRNA. Translation: AAC69326.1.
AF131765 mRNA. Translation: AAD20039.1.
AK094714 mRNA. Translation: BAG52917.1.
AK314402 mRNA. Translation: BAG37026.1.
AC003093 Genomic DNA. Translation: AAB83938.1. Sequence problems.
CH236948 Genomic DNA. Translation: EAL24246.1.
CH471073 Genomic DNA. Translation: EAW93813.1.
BC125065 mRNA. Translation: AAI25066.1.
AF007790 mRNA. Translation: AAC39635.2. Different initiation.
CCDSCCDS47563.1. [O60443-3]
CCDS5389.1. [O60443-1]
RefSeqNP_001120925.1. NM_001127453.1. [O60443-1]
NP_001120926.1. NM_001127454.1. [O60443-3]
NP_004394.1. NM_004403.2. [O60443-1]
UniGeneHs.520708.

3D structure databases

ProteinModelPortalO60443.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108049. 3 interactions.
IntActO60443. 4 interactions.
MINTMINT-5005878.
STRING9606.ENSP00000339587.

PTM databases

PhosphoSiteO60443.

Proteomic databases

MaxQBO60443.
PaxDbO60443.
PRIDEO60443.

Protocols and materials databases

DNASU1687.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000342947; ENSP00000339587; ENSG00000105928. [O60443-1]
ENST00000409775; ENSP00000386670; ENSG00000105928. [O60443-1]
ENST00000409970; ENSP00000387119; ENSG00000105928. [O60443-3]
ENST00000419307; ENSP00000401332; ENSG00000105928. [O60443-3]
ENST00000545231; ENSP00000442661; ENSG00000105928. [O60443-3]
GeneID1687.
KEGGhsa:1687.
UCSCuc003sxa.1. human. [O60443-1]

Organism-specific databases

CTD1687.
GeneCardsGC07M024737.
GeneReviewsDFNA5.
HGNCHGNC:2810. DFNA5.
HPACAB019306.
HPA011326.
MIM600994. phenotype.
608798. gene.
neXtProtNX_O60443.
Orphanet90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKBPA27281.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40145.
HOGENOMHOG000065726.
HOVERGENHBG051340.
InParanoidO60443.
OMAVVVESDF.
OrthoDBEOG7N63MV.
PhylomeDBO60443.
TreeFamTF352821.

Gene expression databases

ArrayExpressO60443.
BgeeO60443.
CleanExHS_DFNA5.
GenevestigatorO60443.

Family and domain databases

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

Other

ChiTaRSDFNA5. human.
GeneWikiDFNA5.
GenomeRNAi1687.
NextBio6920.
PROO60443.
SOURCESearch...

Entry information

Entry nameDFNA5_HUMAN
AccessionPrimary (citable) accession number: O60443
Secondary accession number(s): A4D156 expand/collapse secondary AC list , B2RAX9, B3KT05, O14590, Q08AQ8, Q9UBV3
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: August 1, 1999
Last modified: July 9, 2014
This is version 107 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM