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

    Gene ID: 64285, updated on 10-Dec-2024

    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, Dec 2024]
    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (58059..76360, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (51596..69903, complement)
    RS_2024_09 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 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:102874-103400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6898 Neighboring gene RNA polymerase III subunit K Neighboring gene small nuclear ribonucleoprotein U11/U12 subunit 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:120389-121206 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:122199-122382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6899 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:122843-123660 Neighboring gene uncharacterized LOC124903617 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:123661-124478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:124479-125296 Neighboring gene Sharpr-MPRA regulatory region 13767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:133607-134462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10200 Neighboring gene N-methylpurine DNA glycosylase Neighboring gene alpha-globin locus control region Neighboring gene NPR3 like, GATOR1 complex subunit Neighboring gene hemoglobin subunit zeta

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    General gene information

    Clone Names

    • FLJ2235, FLJ22357

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables growth factor binding  
    enables protein binding PubMed 
    NOT enables serine-type endopeptidase activity  
    NOT enables serine-type endopeptidase activity PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane PubMed 
    is_active_in endoplasmic reticulum membrane  
    located_in endoplasmic reticulum membrane 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)

    NEW Try the new Transcript table

    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_022450.5 → NP_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
      Q04842, Q1W6H2, Q4TT59, Q96CC6, Q96S34, Q9H6E1
      Related
      ENSP00000262316.5, ENST00000262316.10
      Conserved Domains (2) summary
      pfam01694
      Location:647 → 788
      Rhomboid; Rhomboid family
      pfam12595
      Location:91 → 308
      Rhomboid_SP; Rhomboid serine protease

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_017023556.2 → XP_016879045.1  inactive rhomboid protein 1 isoform X3

      Conserved Domains (2) summary
      pfam01694
      Location:670 → 811
      Rhomboid; Rhomboid family
      pfam12595
      Location:114 → 331
      Rhomboid_SP; Rhomboid serine protease
    2. XM_047434482.1 → XP_047290438.1  inactive rhomboid protein 1 isoform X6

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

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

      Conserved Domains (2) summary
      pfam01694
      Location:670 → 811
      Rhomboid; Rhomboid family
      pfam12595
      Location:114 → 331
      Rhomboid_SP; Rhomboid serine protease
    5. XM_047434478.1 → XP_047290434.1  inactive rhomboid protein 1 isoform X1

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

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

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

      UniProtKB/TrEMBL
      B3KPT2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      51596..69903 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313667.1 → XP_054169642.1  inactive rhomboid protein 1 isoform X3

    2. XM_054313670.1 → XP_054169645.1  inactive rhomboid protein 1 isoform X6

    3. XM_054313669.1 → XP_054169644.1  inactive rhomboid protein 1 isoform X5

    4. XM_054313666.1 → XP_054169641.1  inactive rhomboid protein 1 isoform X3

    5. XM_054313664.1 → XP_054169639.1  inactive rhomboid protein 1 isoform X1

    6. XM_054313665.1 → XP_054169640.1  inactive rhomboid protein 1 isoform X2

    7. XM_054313668.1 → XP_054169643.1  inactive rhomboid protein 1 isoform X4

    8. XM_054313671.1 → XP_054169646.1  inactive rhomboid protein 1 isoform X7

      UniProtKB/TrEMBL
      B3KPT2
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