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RHBDD3 rhomboid domain containing 3 [ Homo sapiens (human) ]

Gene ID: 25807, updated on 3-May-2020

Summary

Official Symbol
RHBDD3provided by HGNC
Official Full Name
rhomboid domain containing 3provided by HGNC
Primary source
HGNC:HGNC:1308
See related
Ensembl:ENSG00000100263
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
PTAG; C22orf3; HS984G1A
Expression
Ubiquitous expression in testis (RPKM 5.8), prostate (RPKM 4.1) and 25 other tissues See more
Orthologs

Genomic context

See RHBDD3 in Genome Data Viewer
Location:
22q12.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (29259852..29268213, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29655844..29664147, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929638 Neighboring gene Sharpr-MPRA regulatory region 4816 Neighboring gene EMI domain containing 1 Neighboring gene uncharacterized LOC105372985 Neighboring gene EWS RNA binding protein 1 Neighboring gene growth arrest specific 2 like 1

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

NHGRI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of natural killer cell activation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of acute inflammatory response IEA
Inferred from Electronic Annotation
more info
 
regulation of protein secretion IEA
Inferred from Electronic Annotation
more info
 
response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rhomboid domain-containing protein 3
Names
hypothetical protein HS984G1A
pituitary tumor apoptosis

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_001329536.1NP_001316465.1  rhomboid domain-containing protein 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AL031186
    Consensus CDS
    CCDS13850.1
    UniProtKB/Swiss-Prot
    Q9Y3P4
    UniProtKB/TrEMBL
    A0A024R1J2
    Conserved Domains (1) summary
    cd14289
    Location:327370
    UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)
  2. NM_012265.3NP_036397.1  rhomboid domain-containing protein 3

    See identical proteins and their annotated locations for NP_036397.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AL050346, HY120483
    Consensus CDS
    CCDS13850.1
    UniProtKB/Swiss-Prot
    Q9Y3P4
    UniProtKB/TrEMBL
    A0A024R1J2
    Related
    ENSP00000216085.7, ENST00000216085.12
    Conserved Domains (1) summary
    cd14289
    Location:327370
    UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)

RNA

  1. NR_138044.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon and contains another alternate exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AL031186
    Related
    ENST00000413137.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    29259852..29268213 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452208.1XP_024307976.1  rhomboid domain-containing protein 3 isoform X1

    Conserved Domains (1) summary
    cd14289
    Location:330373
    UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)
  2. XM_017028750.2XP_016884239.1  rhomboid domain-containing protein 3 isoform X3

  3. XM_006724224.4XP_006724287.1  rhomboid domain-containing protein 3 isoform X2

    Conserved Domains (1) summary
    cd14289
    Location:199242
    UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)
  4. XM_024452209.1XP_024307977.1  rhomboid domain-containing protein 3 isoform X1

    Conserved Domains (1) summary
    cd14289
    Location:330373
    UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)
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