Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 79955, updated on 23-May-2015
Official Symbol
PDZD7provided by HGNC
Official Full Name
PDZ domain containing 7provided by HGNC
Primary source
HGNC:HGNC:26257
See related
Ensembl:ENSG00000186862; HPRD:15114; 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
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]
Orthologs
See PDZD7 in MapViewer
Location:
10q24.31
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G Neighboring gene microRNA 608 Neighboring gene mitochondrial ribosomal protein L43 Neighboring gene chromosome 10 open reading frame 2 Neighboring gene leucine zipper, putative tumor suppressor 2 Neighboring gene sideroflexin 3 Neighboring gene Kazal-type serine peptidase inhibitor domain 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cilium IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
PDZ domain-containing protein 7
Names
PDZ domain-containing protein 7

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 longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK026862, AL133215, DA197280, FJ617449
    Consensus CDS
    CCDS73182.1
    UniProtKB/Swiss-Prot
    Q9H5P4
    Related
    ENSP00000480489, ENST00000619208
    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_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, OTTHUMP00000020294, ENST00000370215, 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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011540178.1XP_011538480.1  

    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_011540177.1XP_011538479.1  

    See identical proteins and their annotated locations for XP_011538479.1

    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_011540179.1XP_011538481.1  

    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_005270165.1XP_005270222.1  

    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_011540181.1XP_011538483.1  

    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) ...
  6. XM_011540180.1XP_011538482.1  

    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) ...
  7. XM_011540183.1XP_011538485.1  

    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) ...
  8. XM_011540182.1XP_011538484.1  

    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) ...

RNA

  1. XR_945816.1 RNA Sequence

  2. XR_945815.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    103051644..103075147
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)