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PRRT1B proline rich transmembrane protein 1B [ Homo sapiens (human) ]

Gene ID: 642515, updated on 5-Mar-2024

Summary

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Official Symbol
PRRT1Bprovided by HGNC
Official Full Name
proline rich transmembrane protein 1Bprovided by HGNC
Primary source
HGNC:HGNC:53642
See related
Ensembl:ENSG00000283526 AllianceGenome:HGNC:53642
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
DSPD2; IFITMD8
Summary
Predicted to be integral component of membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in lung (RPKM 2.3), prostate (RPKM 1.1) and 8 other tissues See more
Orthologs
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Genomic context

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See PRRT1B in Genome Data Viewer
Location:
9q34.13
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (131545523..131559815)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (143758483..143772792)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (134420910..134435202)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376301 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:134403902-134405101 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134405807-134406720 Neighboring gene protein O-mannosyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20421 Neighboring gene NANOG hESC enhancer GRCh37_chr9:134426802-134427303 Neighboring gene uridine-cytidine kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134443475-134443974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134464737-134465236 Neighboring gene Rap guanine nucleotide exchange factor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:134481176-134481676 Neighboring gene Sharpr-MPRA regulatory region 10461 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134493979-134494945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134499860-134500360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134504170-134504919 Neighboring gene Sharpr-MPRA regulatory region 12258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134530670-134531170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134534752-134535285 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134535286-134535818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29207 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:134558729-134559329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:134584807-134585588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134587455-134587956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134587957-134588456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134598083-134598582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29212 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20422 Neighboring gene Sharpr-MPRA regulatory region 1247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29213 Neighboring gene Sharpr-MPRA regulatory region 10210 Neighboring gene RNA, 7SL, cytoplasmic 328, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29214 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134630482-134631089 Neighboring gene eukaryotic translation initiation factor 4A1 pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Genotypes

General gene information

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Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
proline rich transmembrane protein 1B
Names
dispanin subfamily D member 2
proline-rich transmembrane protein 1-like

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_001365666.1 → NP_001352595.1  proline rich transmembrane protein 1B isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL160276
    Conserved Domains (2) summary
    pfam04505
    Location:191 → 257
    CD225; Interferon-induced transmembrane protein
    cl26464
    Location:19 → 183
    Atrophin-1; Atrophin-1 family

  2. NM_001395643.1 → NP_001382572.1  proline rich transmembrane protein 1B isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL160276
    Consensus CDS
    CCDS94520.1
    UniProtKB/Swiss-Prot
    A0A1B0GWB2
    Related
    ENSP00000490857.1, ENST00000636672.2
    Conserved Domains (2) summary
    PRK07764
    Location:3 → 188
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    pfam04505
    Location:186 → 252
    CD225; Interferon-induced transmembrane protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    131545523..131559815
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015412.3 → XP_016870901.1  proline rich transmembrane protein 1B isoform X2

  2. XM_017015411.3 → XP_016870900.1  proline rich transmembrane protein 1B isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    143758483..143772792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363516.1 → XP_054219491.1  proline rich transmembrane protein 1B isoform X2

  2. XM_054363515.1 → XP_054219490.1  proline rich transmembrane protein 1B isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A1B0GWB2.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GWB2

Gene LinkOut

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