Q9H5P4 (PDZD7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
PDZ domain-containing protein 7

Gene names

Name:	PDZD7
Synonyms:	PDZK7

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	517 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Interacts with USH1G. Interacts with GPR98. Interacts with USH2A. Ref.1 Ref.5
Subcellular location	Cell projection › cilium. Nucleus Ref.1.
Tissue specificity	Weakly expressed in the inner ear. Expressed in the retinal pigment epithelium. Ref.1 Ref.5
Involvement in disease	A chromosomal aberration disrupting PDZD7 has been found in patients with non-syndromic sensorineural deafness. Translocation t(10;11),t(10;11). Usher syndrome 2C (USH2C) [MIM:605472]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. PDZD7 mutations have been found in combination with mutations in USH2A and GPR98 in patients affected by Usher syndrome, suggesting a role as contributor to digenic Usher syndrome or a modifier of retinal disease expression.
Sequence similarities	Contains 2 PDZ (DHR) domains.

Ontologies

Keywords
Cellular component	Cell projection Cilium Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Deafness Retinitis pigmentosa Usher syndrome
Domain	Repeat
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cilium Inferred from direct assay Ref.1. Source: UniProtKB nucleus Inferred from direct assay Ref.1. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9H5P4-1)

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 2 (identifier: Q9H5P4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     511-512: VS → AT
     513-517: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9H5P4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     508-509: EM → AG
     512-517: SPCCPG → GPVQKFVTWR...SKPAPSPRIP

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 517

517

PDZ domain-containing protein 7

PRO_0000058297

Regions

Domain

86 – 168

83

PDZ 1

Domain

210 – 293

84

PDZ 2

Compositional bias

319 – 344

26

Ser-rich

Natural variations

Alternative sequence

508 – 509

2

EM → AG in isoform 3.

VSP_039972

Alternative sequence

511 – 512

2

VS → AT in isoform 2.

VSP_015075

Alternative sequence

512 – 517

6

SPCCPG → GPVQKFVTWRLRRDQERGRA LLSARSGSPSSQLPNVDEQV QAWESRRPLIQDLAQRLLTD DEVLAVTRHCSRYVHEGGIE DLVRPLLAILDRPEKLLLLQ DIRSVVAPTDLGRFDSMVML VELEAFEALKSRAVRPPALR PARQDTPPKRHLITPVPDSR GGFYLLPVNGFPEEEDNGEL RERLGALKVSPSASAPRHPH KGIPPLQDVPVDAFTPLRIA CTPPPQLPPVAPRPLRPNWL LTEPLSREHPPQSQIRGRAQ SRSRSRSRSRSRSSRGQGKS PGRRSPSPVPTPAPSMTNGR YHKPRKARPPLPRPLDGEAA KVGAKQGPSESGTEGTAKEA AMKNPSGELKTVTLSKMKQS LGISISGGIESKVQPMVKIE KIFPGGAAFLSGALQAGFEL VAVDGENLEQVTHQRAVDTI RRAYRNKAREPMELVVRVPG PSPRPSPSDSSALTDGGLPA DHLPAHQPLDAAPVPAHWLP EPPTNPQTPPTDARLLQPTP SPAPSPALQTPDSKPAPSPR IP in isoform 3.

VSP_039973

Alternative sequence

513 – 517

5

Missing in isoform 2.

VSP_015076

Experimental info

Sequence conflict

449

1

Missing in AAH29054. Ref.4

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

517

Helix Strand Turn

Details...

Beta strand

87 – 89

3

Beta strand

93 – 96

4

Beta strand

98 – 102

5

Beta strand

105 – 108

4

Beta strand

111 – 116

6

Helix

121 – 125

5

Beta strand

132 – 136

5

Helix

146 – 154

9

Beta strand

157 – 165

9

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 06C9C614283478F7	FASTA	517	55,677
	10 20 30 40 50 60 MAQGFAVGFD PLGLGDLSSG SLSSLSSRGH LGSDSGSTAT RYLLRKQQRL LNGPPRGIRA 70 80 90 100 110 120 SSPMGRVILI NSPIEANSDE SDIIHSVRVE KSPAGRLGFS VRGGSEHGLG IFVSKVEEGS 130 140 150 160 170 180 SAERAGLCVG DKITEVNGLS LESTTMGSAV KVLTSSSRLH MMVRRMGRVP GIKFSKEKTT 190 200 210 220 230 240 WVDVVNRRLV VEKCGSTPSD TSSEDGVRRI VHLYTTSDDF CLGFNIRGGK EFGLGIYVSK 250 260 270 280 290 300 VDHGGLAEEN GIKVGDQVLA ANGVRFDDIS HSQAVEVLKG QTHIMLTIKE TGRYPAYKEM 310 320 330 340 350 360 VSEYCWLDRL SNGVLQQLSP ASESSSSVSS CASSAPYSSG SLPSDRMDIC LGQEEPGSRG 370 380 390 400 410 420 PGWGRADTAM QTEPDAGGRV ETWCSVRPTV ILRDTAIRSD GPHPGRRLDS ALSESPKTAL 430 440 450 460 470 480 LLALSRPRPP ITRSQSYLTL WEEKQQRKKE KSGSPGEKGA LQRSKTLMNL FFKGGRQGRL 490 500 510 ARDGRREAWT LDSGSLAKTY PRLDIEKEMG VSPCCPG
	Isoform 2 [UniParc]. Checksum: 0077E7435F2A7C99	FASTA	512	55,205
	10 20 30 40 50 60 MAQGFAVGFD PLGLGDLSSG SLSSLSSRGH LGSDSGSTAT RYLLRKQQRL LNGPPRGIRA 70 80 90 100 110 120 SSPMGRVILI NSPIEANSDE SDIIHSVRVE KSPAGRLGFS VRGGSEHGLG IFVSKVEEGS 130 140 150 160 170 180 SAERAGLCVG DKITEVNGLS LESTTMGSAV KVLTSSSRLH MMVRRMGRVP GIKFSKEKTT 190 200 210 220 230 240 WVDVVNRRLV VEKCGSTPSD TSSEDGVRRI VHLYTTSDDF CLGFNIRGGK EFGLGIYVSK 250 260 270 280 290 300 VDHGGLAEEN GIKVGDQVLA ANGVRFDDIS HSQAVEVLKG QTHIMLTIKE TGRYPAYKEM 310 320 330 340 350 360 VSEYCWLDRL SNGVLQQLSP ASESSSSVSS CASSAPYSSG SLPSDRMDIC LGQEEPGSRG 370 380 390 400 410 420 PGWGRADTAM QTEPDAGGRV ETWCSVRPTV ILRDTAIRSD GPHPGRRLDS ALSESPKTAL 430 440 450 460 470 480 LLALSRPRPP ITRSQSYLTL WEEKQQRKKE KSGSPGEKGA LQRSKTLMNL FFKGGRQGRL 490 500 510 ARDGRREAWT LDSGSLAKTY PRLDIEKEMG AT
	Isoform 3 [UniParc]. Checksum: F267D0911E73ECBC	FASTA	1,033	111,752
	10 20 30 40 50 60 MAQGFAVGFD PLGLGDLSSG SLSSLSSRGH LGSDSGSTAT RYLLRKQQRL LNGPPRGIRA 70 80 90 100 110 120 SSPMGRVILI NSPIEANSDE SDIIHSVRVE KSPAGRLGFS VRGGSEHGLG IFVSKVEEGS 130 140 150 160 170 180 SAERAGLCVG DKITEVNGLS LESTTMGSAV KVLTSSSRLH MMVRRMGRVP GIKFSKEKTT 190 200 210 220 230 240 WVDVVNRRLV VEKCGSTPSD TSSEDGVRRI VHLYTTSDDF CLGFNIRGGK EFGLGIYVSK 250 260 270 280 290 300 VDHGGLAEEN GIKVGDQVLA ANGVRFDDIS HSQAVEVLKG QTHIMLTIKE TGRYPAYKEM 310 320 330 340 350 360 VSEYCWLDRL SNGVLQQLSP ASESSSSVSS CASSAPYSSG SLPSDRMDIC LGQEEPGSRG 370 380 390 400 410 420 PGWGRADTAM QTEPDAGGRV ETWCSVRPTV ILRDTAIRSD GPHPGRRLDS ALSESPKTAL 430 440 450 460 470 480 LLALSRPRPP ITRSQSYLTL WEEKQQRKKE KSGSPGEKGA LQRSKTLMNL FFKGGRQGRL 490 500 510 520 530 540 ARDGRREAWT LDSGSLAKTY PRLDIEKAGG VGPVQKFVTW RLRRDQERGR ALLSARSGSP 550 560 570 580 590 600 SSQLPNVDEQ VQAWESRRPL IQDLAQRLLT DDEVLAVTRH CSRYVHEGGI EDLVRPLLAI 610 620 630 640 650 660 LDRPEKLLLL QDIRSVVAPT DLGRFDSMVM LVELEAFEAL KSRAVRPPAL RPARQDTPPK 670 680 690 700 710 720 RHLITPVPDS RGGFYLLPVN GFPEEEDNGE LRERLGALKV SPSASAPRHP HKGIPPLQDV 730 740 750 760 770 780 PVDAFTPLRI ACTPPPQLPP VAPRPLRPNW LLTEPLSREH PPQSQIRGRA QSRSRSRSRS 790 800 810 820 830 840 RSRSSRGQGK SPGRRSPSPV PTPAPSMTNG RYHKPRKARP PLPRPLDGEA AKVGAKQGPS 850 860 870 880 890 900 ESGTEGTAKE AAMKNPSGEL KTVTLSKMKQ SLGISISGGI ESKVQPMVKI EKIFPGGAAF 910 920 930 940 950 960 LSGALQAGFE LVAVDGENLE QVTHQRAVDT IRRAYRNKAR EPMELVVRVP GPSPRPSPSD 970 980 990 1000 1010 1020 SSALTDGGLP ADHLPAHQPL DAAPVPAHWL PEPPTNPQTP PTDARLLQPT PSPAPSPALQ 1030 TPDSKPAPSP RIP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome." Ebermann I., Phillips J.B., Liebau M.C., Koenekoop R.K., Schermer B., Lopez I., Schafer E., Roux A.F., Dafinger C., Bernd A., Zrenner E., Claustres M., Blanco B., Nurnberg G., Nurnberg P., Ruland R., Westerfield M., Benzing T., Bolz H.J. J. Clin. Invest. 120:1812-1823(2010) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH GPR98 AND USH2A, INVOLVEMENT IN USHER SYNDROME.
[2]	"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] (ISOFORM 1).
[3]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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 2). Tissue: Brain.
[5]	"Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment." Schneider E., Marker T., Daser A., Frey-Mahn G., Beyer V., Farcas R., Schneider-Ratzke B., Kohlschmidt N., Grossmann B., Bauss K., Napiontek U., Keilmann A., Bartsch O., Zechner U., Wolfrum U., Haaf T. Hum. Mol. Genet. 18:655-666(2009) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, INTERACTION WITH USH1G, INVOLVEMENT IN DEAFNESS, CHROMOSOMAL TRANSLOCATION.
[6]	"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.
[7]	"Solution structure of first PDZ domain of PDZ domain containing protein 7." RIKEN structural genomics initiative (RSGI) Submitted (AUG-2007) to the PDB data bank Cited for: STRUCTURE BY NMR OF 76-170.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

FJ617449 mRNA. Translation: ACU45386.1.
AK026862 mRNA. Translation: BAB15577.1.
AL133215 Genomic DNA. Translation: CAI10934.1.
BC029054 mRNA. Translation: AAH29054.1.

IPI

IPI00016495.
IPI00646578.
IPI00971069.

RefSeq

NP_001182192.1. NM_001195263.1.
NP_079171.1. NM_024895.4.

UniGene

Hs.438245.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2EEH	NMR	-	A	81-167	[»]

ProteinModelPortal

Q9H5P4.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000359234.

PTM databases

PhosphoSite

Q9H5P4.

Polymorphism databases

DMDM

73621380.

Proteomic databases

PaxDb

Q9H5P4.

PRIDE

Q9H5P4.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000370215; ENSP00000359234; ENSG00000186862.

GeneID

79955.

KEGG

hsa:79955.

UCSC

uc001ksn.3. human.
uc021pxc.1. human.

Organism-specific databases

CTD

79955.

GeneCards

GC10M102767.

HGNC

HGNC:26257. PDZD7.

MIM

605472. phenotype.
612971. gene.

neXtProt

NX_Q9H5P4.

Orphanet

231178. Usher syndrome type 2.

PharmGKB

PA142671189.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG270450.

HOGENOM

HOG000115487.

HOVERGEN

HBG082117.

InParanoid

Q9H5P4.

OMA

KGDSRGK.

PhylomeDB

Q9H5P4.

Gene expression databases

ArrayExpress

Q9H5P4.

Bgee

Q9H5P4.

CleanEx

HS_PDZD7.

Genevestigator

Q9H5P4.

GermOnline

ENSG00000186862. Homo sapiens.

Family and domain databases

InterPro

IPR001478. PDZ.
[Graphical view]

Pfam

PF00595. PDZ. 2 hits.
[Graphical view]

SMART

SM00228. PDZ. 2 hits.
[Graphical view]

SUPFAM

SSF50156. PDZ. 2 hits.

PROSITE

PS50106. PDZ. 2 hits.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q9H5P4.

GenomeRNAi

79955.

NextBio

69929.

SOURCE

Search...

Entry information

Entry name

PDZD7_HUMAN

Accession

Primary (citable) accession number: Q9H5P4
Secondary accession number(s): D5FJ77, Q8N321

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2005
Last sequence update:	March 1, 2001
Last modified:	May 1, 2013
This is version 92 of the entry and version 1 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.