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PDZD7 PDZ domain containing 7 [ Homo sapiens (human) ]

Gene ID: 79955, updated on 12-Aug-2018

Summary

Official Symbol
PDZD7provided by HGNC
Official Full Name
PDZ domain containing 7provided by HGNC
Primary source
HGNC:HGNC:26257
See related
Ensembl:ENSG00000186862 MIM:612971; Vega:OTTHUMG00000018916
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PDZK7; DFNB57
Summary
This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
Expression
Broad expression in small intestine (RPKM 3.0), duodenum (RPKM 1.7) and 20 other tissues See more
Orthologs

Genomic context

See PDZD7 in Genome Data Viewer
Location:
10q24.31
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (101007683..101031157, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102767440..102790914, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene semaphorin 4G Neighboring gene mitochondrial ribosomal protein L43 Neighboring gene twinkle mtDNA helicase Neighboring gene leucine zipper tumor suppressor 2 Neighboring gene sideroflexin 3 Neighboring gene uncharacterized LOC107984262 Neighboring gene Sharpr-MPRA regulatory region 11881

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
auditory receptor cell stereocilium organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
auditory receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
detection of mechanical stimulus involved in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
establishment of protein localization IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
USH2 complex IEA
Inferred from Electronic Annotation
more info
 
cilium IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
COLOCALIZES_WITH photoreceptor connecting cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
COLOCALIZES_WITH photoreceptor inner segment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
stereocilia ankle link IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
stereocilia ankle link IEA
Inferred from Electronic Annotation
more info
 
stereocilia ankle link complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
stereocilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
stereocilium tip IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
PDZ domain-containing protein 7
Names
deafness, autosomal recessive 57

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028030.1 RefSeqGene

    Range
    5001..28475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195263.1NP_001182192.1  PDZ domain-containing protein 7 isoform 1

    See identical proteins and their annotated locations for NP_001182192.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK026862, AL133215, DA197280, FJ617449
    Consensus CDS
    CCDS73182.1
    UniProtKB/Swiss-Prot
    Q9H5P4
    Related
    ENSP00000480489.1, ENST00000619208.5
    Conserved Domains (2) summary
    cd00992
    Location:84164
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd07358
    Location:554630
    HN_PDZD7_like; harmonin_N_like domain, a protein-binding module of PDZ domain-containing protein 7 and related proteins
  2. NM_001351044.1NP_001337973.1  PDZ domain-containing protein 7 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the coding region, which results in a frameshift, lacks multiple exons in the 3' coding region, and has a distinct 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK026862, AL133215, AW058493, DA197280, FJ617449
    Conserved Domains (1) summary
    cd00992
    Location:84164
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  3. NM_024895.4NP_079171.1  PDZ domain-containing protein 7 isoform 2

    See identical proteins and their annotated locations for NP_079171.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1 and is also known as PDZD7-A.
    Source sequence(s)
    AK026862, AL133215, DA197280
    Consensus CDS
    CCDS31269.1
    UniProtKB/Swiss-Prot
    Q9H5P4
    Related
    ENSP00000359234.3, OTTHUMP00000020294, ENST00000370215.7, OTTHUMT00000049883
    Conserved Domains (1) summary
    cd00992
    Location:84164
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    101007683..101031157 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540178.3XP_011538480.1  PDZ domain-containing protein 7 isoform X2

    Conserved Domains (2) summary
    cd00992
    Location:84164
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd07358
    Location:553629
    HN_PDZD7_like; harmonin_N_like domain, a protein-binding module of PDZ domain-containing protein 7 and related proteins
  2. XM_011540177.3XP_011538479.1  PDZ domain-containing protein 7 isoform X1

    See identical proteins and their annotated locations for XP_011538479.1

    UniProtKB/Swiss-Prot
    Q9H5P4
    Conserved Domains (2) summary
    cd00992
    Location:84164
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd07358
    Location:554630
    HN_PDZD7_like; harmonin_N_like domain, a protein-binding module of PDZ domain-containing protein 7 and related proteins
  3. XM_011540179.3XP_011538481.1  PDZ domain-containing protein 7 isoform X3

    Conserved Domains (2) summary
    cd00992
    Location:84164
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
    cd07358
    Location:554630
    HN_PDZD7_like; harmonin_N_like domain, a protein-binding module of PDZ domain-containing protein 7 and related proteins
  4. XM_005270165.3XP_005270222.1  PDZ domain-containing protein 7 isoform X5

    Related
    ENSP00000496747.1, ENST00000644782.1
    Conserved Domains (1) summary
    cd00992
    Location:84164
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  5. XM_011540181.3XP_011538483.1  PDZ domain-containing protein 7 isoform X6

    Conserved Domains (1) summary
    cd00992
    Location:84164
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  6. XM_011540183.3XP_011538485.1  PDZ domain-containing protein 7 isoform X7

    Conserved Domains (1) summary
    cd00992
    Location:84164
    PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
  7. XM_017016667.2XP_016872156.1  PDZ domain-containing protein 7 isoform X4

    Related
    ENSP00000495283.1, ENST00000645349.1
  8. XM_017016668.2XP_016872157.1  PDZ domain-containing protein 7 isoform X8

RNA

  1. XR_945816.3 RNA Sequence

  2. XR_001747203.2 RNA Sequence

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