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PTCHD3 patched domain containing 3 (gene/pseudogene) [ Homo sapiens (human) ]

Gene ID: 374308, updated on 8-Dec-2022

Summary

Official Symbol
PTCHD3provided by HGNC
Official Full Name
patched domain containing 3 (gene/pseudogene)provided by HGNC
Primary source
HGNC:HGNC:24776
See related
Ensembl:ENSG00000182077 MIM:611791; AllianceGenome:HGNC:24776
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PTR
Summary
Predicted to be located in sperm midpiece. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Annotation information
Annotation category: suggests misassembly
Expression
Restricted expression toward testis (RPKM 3.3) See more
Orthologs
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Genomic context

See PTCHD3 in Genome Data Viewer
Location:
10p12.1
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (27397121..27414347, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (27427292..27444622, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (27686050..27703276, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 210, member B pseudogene Neighboring gene TP53 regulated inhibitor of apoptosis 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 9566 Neighboring gene uncharacterized LOC124902399 Neighboring gene RAB18, member RAS oncogene family Neighboring gene long intergenic non-protein coding RNA 2680

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 Apr 4 07:08:55 2018

Bibliography

Phenotypes

EBI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ44037, MGC129888

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in sperm midpiece IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
patched domain-containing protein 3
Names
patched-related protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001034842.5NP_001030014.2  patched domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_001030014.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the allele encoded by the reference genome (GRCh38) and encodes isoform 1.
    Source sequence(s)
    AL355493
    UniProtKB/Swiss-Prot
    Q3KNS1
    UniProtKB/TrEMBL
    A0A8Q3VUI5
    Related
    ENSP00000495205.1, ENST00000642324.1
    Conserved Domains (3) summary
    pfam02460
    Location:171734
    Patched; Patched family
    pfam15240
    Location:688
    Pro-rich; Proline-rich
    cl21543
    Location:407553
    MMPL; MMPL family
  2. NM_001395743.1NP_001382672.1  patched domain-containing protein 3 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) retains a mismatch (C vs. T), at 27,398,296 compared to the reference genome sequence which results in the loss of a stop codon, compared to variant 1. The resulting isoform (2) has a longer C-terminus, compared to isoform 1.
    Source sequence(s)
    AK126025, AL355493
    UniProtKB/Swiss-Prot
    Q6ZU28
    Conserved Domains (1) summary
    cl25655
    Location:171952
    Patched; Patched family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    27397121..27414347 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315934.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    158767..175993 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    27427292..27444622 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)