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RHBDF1 rhomboid 5 homolog 1 [ Homo sapiens (human) ]

Gene ID: 64285, updated on 22-Sep-2022

Summary

Official Symbol
RHBDF1provided by HGNC
Official Full Name
rhomboid 5 homolog 1provided by HGNC
Primary source
HGNC:HGNC:20561
See related
Ensembl:ENSG00000007384 MIM:614403; AllianceGenome:HGNC:20561
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
Dist1; hDist1; C16orf8; EGFR-RS; gene-89; gene-90
Summary
Predicted to enable growth factor binding activity and serine-type endopeptidase activity. Involved in several processes, including negative regulation of protein secretion; regulation of epidermal growth factor receptor signaling pathway; and regulation of proteasomal protein catabolic process. Located in Golgi membrane and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in placenta (RPKM 12.8), prostate (RPKM 9.9) and 24 other tissues See more
Orthologs
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Genomic context

See RHBDF1 in Genome Data Viewer
Location:
16p13.3
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (58059..76360, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (51596..66174, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (108058..122629, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene RNA polymerase III subunit K Neighboring gene small nuclear ribonucleoprotein U11/U12 subunit 25 Neighboring gene uncharacterized LOC124903617 Neighboring gene Sharpr-MPRA regulatory region 13767 Neighboring gene N-methylpurine DNA glycosylase Neighboring gene alpha-globin locus control region Neighboring gene NPR3 like, GATOR1 complex subunit

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ2235, FLJ22357

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables growth factor binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT enables serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
inactive rhomboid protein 1
Names
epidermal growth factor receptor, related sequence
epidermal growth factor receptor-related protein
iRhom1
p100hRho
rhomboid family 1
rhomboid family member 1

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_022450.5NP_071895.3  inactive rhomboid protein 1

    See identical proteins and their annotated locations for NP_071895.3

    Status: VALIDATED

    Source sequence(s)
    KF511222, KF511226, Z69719, Z69720
    Consensus CDS
    CCDS32344.1
    UniProtKB/Swiss-Prot
    Q96CC6, Q9H6E1
    Related
    ENSP00000262316.5, ENST00000262316.10
    Conserved Domains (2) summary
    pfam01694
    Location:647788
    Rhomboid; Rhomboid family
    pfam12595
    Location:91308
    Rhomboid_SP; Rhomboid serine protease

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    58059..76360 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023556.2XP_016879045.1  inactive rhomboid protein 1 isoform X3

    Conserved Domains (2) summary
    pfam01694
    Location:670811
    Rhomboid; Rhomboid family
    pfam12595
    Location:114331
    Rhomboid_SP; Rhomboid serine protease
  2. XM_047434482.1XP_047290438.1  inactive rhomboid protein 1 isoform X6

  3. XM_047434481.1XP_047290437.1  inactive rhomboid protein 1 isoform X5

  4. XM_006720921.2XP_006720984.1  inactive rhomboid protein 1 isoform X3

    Conserved Domains (2) summary
    pfam01694
    Location:670811
    Rhomboid; Rhomboid family
    pfam12595
    Location:114331
    Rhomboid_SP; Rhomboid serine protease
  5. XM_047434478.1XP_047290434.1  inactive rhomboid protein 1 isoform X1

  6. XM_047434479.1XP_047290435.1  inactive rhomboid protein 1 isoform X2

  7. XM_047434480.1XP_047290436.1  inactive rhomboid protein 1 isoform X4

  8. XM_017023558.1XP_016879047.1  inactive rhomboid protein 1 isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    51596..66174 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)