O60443 (DFNA5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	496 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

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	Defects in DFNA5 are the cause of deafness autosomal dominant type 5 (DFNA5) [MIM:600994]. DFNA5 is a form of 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. Ref.1
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.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Non-syndromic deafness
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	sensory perception of sound Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform Long (identifier: O60443-1)

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 Short (identifier: O60443-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-395: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 496	496	Non-syndromic hearing impairment protein 5		PRO_0000148178
Natural variations
	Alternative sequence	1 – 395	395	Missing in isoform Short.		VSP_004190
	Natural variant	142	1	P → T. Ref.6 Corresponds to variant rs754554 [ dbSNP | Ensembl ].		VAR_030824
	Natural variant	174	1	M → T. Corresponds to variant rs876306 [ dbSNP | Ensembl ].		VAR_053102
	Natural variant	207	1	V → M. Corresponds to variant rs12540919 [ dbSNP | Ensembl ].		VAR_030825

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified August 1, 1999. Version 2. Checksum: A407C9AC31AA716B	FASTA	496	54,555
	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
	Isoform Short [UniParc]. Checksum: 31462F171F9DB7B8	FASTA	101	10,906
	10 20 30 40 50 60 MPDSAAALLG TCCKLQIIPT LCHLLRALSD DGVSDLEDPT LTPLKDTERF GIVQRLFASA 70 80 90 100 DISLERLKSS VKAVILKDSK VFPLLLCITL NGLCALGREH S

References

	« Hide 'large scale' referencesShow '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: 9771715] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), 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 SHORT).
[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 SHORT). 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. , 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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
[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. , 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: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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. , 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: 12690205] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-142.
[7]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
[8]	"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: 9523727] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-496 (ISOFORM LONG). Tissue: Mammary gland.
[9]	Thompson D.A. Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION TO C-TERMINUS.
+	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. AK314402 mRNA. Translation: BAG37026.1. AC003093 Genomic DNA. Translation: AAB83938.1. Sequence problems. CH236948 Genomic DNA. Translation: EAL24246.1. BC125065 mRNA. Translation: AAI25066.1. AF007790 mRNA. Translation: AAC39635.2. Different initiation.
IPI	IPI00029656. IPI00218265.
RefSeq	NP_001120925.1. NM_001127453.1. NP_001120926.1. NM_001127454.1. NP_004394.1. NM_004403.2.
UniGene	Hs.520708.
3D structure databases
ProteinModelPortal	O60443.
ModBase	Search...
Protein-protein interaction databases
IntAct	O60443. 1 interaction.
MINT	MINT-5005878.
STRING	O60443.
PTM databases
PhosphoSite	O60443.
Proteomic databases
PRIDE	O60443.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000342947; ENSP00000339587; ENSG00000105928. ENST00000409775; ENSP00000386670; ENSG00000105928.
GeneID	1687.
KEGG	hsa:1687.
UCSC	uc003sxa.1. human.
Organism-specific databases
CTD	1687.
GeneCards	GC07M024704.
HGNC	HGNC:2810. DFNA5.
HPA	CAB019306. HPA011326.
MIM	600994. phenotype. 608798. gene.
neXtProt	NX_O60443.
Orphanet	90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG17336.
GeneTree	ENSGT00530000063574.
HOGENOM	HBG714928.
HOVERGEN	HBG051340.
InParanoid	O60443.
OMA	QKIVTTQ.
OrthoDB	EOG4BVRTX.
PhylomeDB	O60443.
Gene expression databases
ArrayExpress	O60443.
Bgee	O60443.
CleanEx	HS_DFNA5.
Genevestigator	O60443.
GermOnline	ENSG00000105928. Homo sapiens.
Family and domain databases
InterPro	IPR007677. Gasdermin. [Graphical view]
Pfam	PF04598. Gasdermin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	6920.
SOURCE	Search...

Entry information

Entry name

DFNA5_HUMAN

Accession

Primary (citable) accession number: O60443
Secondary accession number(s): A4D156 , B2RAX9, O14590, Q08AQ8, Q9UBV3

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	August 1, 1999
Last modified:	September 21, 2011
This is version 85 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.