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PRRT1 proline rich transmembrane protein 1 [ Homo sapiens (human) ]

Gene ID: 80863, updated on 3-Oct-2020

Summary

Official Symbol
PRRT1provided by HGNC
Official Full Name
proline rich transmembrane protein 1provided by HGNC
Primary source
HGNC:HGNC:13943
See related
Ensembl:ENSG00000204314 MIM:618297
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
NG5; DSPD1; C6orf31; IFITMD7
Expression
Biased expression in brain (RPKM 24.0), ovary (RPKM 12.1) and 6 other tissues See more
Orthologs

Genomic context

See PRRT1 in Genome Data Viewer
Location:
6p21.32
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (32148328..32153626, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32116140..32119720, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr6.1802 Neighboring gene FKBP prolyl isomerase like Neighboring gene uncharacterized LOC100507547 Neighboring gene PPT2-EGFL8 readthrough (NMD candidate) Neighboring gene palmitoyl-protein thioesterase 2 Neighboring gene EGF like domain multiple 8 Neighboring gene 1-acylglycerol-3-phosphate O-acyltransferase 1 Neighboring gene microRNA 6721

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
proline-rich transmembrane protein 1
Names
dispanin subfamily D member 1
interferon induced transmembrane protein domain containing 7

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.

mRNA and Protein(s)

  1. NM_001363780.2NP_001350709.1  proline-rich transmembrane protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL662884, BC013201
    Consensus CDS
    CCDS87385.1
    Related
    ENSP00000364292.2, ENST00000375150.6
    Conserved Domains (1) summary
    pfam04505
    Location:138204
    CD225; Interferon-induced transmembrane protein
  2. NM_030651.4NP_085154.3  proline-rich transmembrane protein 1 isoform 1

    See identical proteins and their annotated locations for NP_085154.3

    Status: VALIDATED

    Source sequence(s)
    AK054885, BC063046
    Consensus CDS
    CCDS4739.1
    UniProtKB/Swiss-Prot
    Q99946
    UniProtKB/TrEMBL
    A0A1U9X8D6
    Related
    ENSP00000211413.5, ENST00000211413.10
    Conserved Domains (1) summary
    pfam04505
    Location:219286
    CD225; Interferon-induced transmembrane protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    32148328..32153626 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446560.1XP_024302328.1  proline-rich transmembrane protein 1 isoform X2

    Conserved Domains (1) summary
    pfam04505
    Location:66132
    CD225; Interferon-induced transmembrane protein

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    3480961..3485682 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    3586700..3591422 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    3389726..3394448 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    3453364..3458084 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    3490378..3495098 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    3371560..3376277 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    3464567..3469287 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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