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JOSD1 Josephin domain containing 1 [ Homo sapiens (human) ]

Gene ID: 9929, updated on 4-Jan-2025

Summary

Official Symbol
JOSD1provided by HGNC
Official Full Name
Josephin domain containing 1provided by HGNC
Primary source
HGNC:HGNC:28953
See related
Ensembl:ENSG00000100221 MIM:615323; AllianceGenome:HGNC:28953
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
dJ508I15.2
Summary
Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination. Located in membrane. [provided by Alliance of Genome Resources, Jan 2025]
Expression
Ubiquitous expression in bone marrow (RPKM 27.2), gall bladder (RPKM 19.0) and 25 other tissues See more
Orthologs
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Genomic context

See JOSD1 in Genome Data Viewer
Location:
22q13.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38685543..38701403, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39155750..39171614, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39081548..39097408, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene TOMM22 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:39077750-39078949 Neighboring gene translocase of outer mitochondrial membrane 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39100707-39101392 Neighboring gene hESC enhancers GRCh37_chr22:39101393-39102078 and GRCh37_chr22:39102079-39102764 Neighboring gene GTP binding protein 1 Neighboring gene peroxiredoxin 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19017 Neighboring gene Sad1 and UNC84 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13731

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

Interactions

General gene information

Clone Names

  • KIAA0063

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type deubiquitinase activity  
enables cysteine-type deubiquitinase activity  
enables protein binding PubMed 
Process Evidence Code Pubs
involved_in protein deubiquitination  
involved_in proteolysis  
Component Evidence Code Pubs
located_in cytosol  
located_in membrane PubMed 
located_in plasma membrane  

General protein information

Preferred Names
josephin-1
Names
josephin domain-containing 1
josephin domain-containing protein 1
NP_001347164.1
NP_001347165.1
NP_055691.1
XP_005261935.1
XP_047297643.1
XP_047297644.1
XP_054182227.1
XP_054182228.1

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_001360235.2NP_001347164.1  josephin-1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a different 5' non-coding exon compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    BC015026, CA449010, DB064998, HY026936
    Consensus CDS
    CCDS13976.1
    UniProtKB/Swiss-Prot
    A8K712, Q15040
    UniProtKB/TrEMBL
    Q6IB81
    Conserved Domains (1) summary
    pfam02099
    Location:31173
    Josephin
  2. NM_001360236.2NP_001347165.1  josephin-1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains a different 5' non-coding exon compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AL021707, BC015026, CA449010, DB152274, HY026936
    Consensus CDS
    CCDS13976.1
    UniProtKB/Swiss-Prot
    A8K712, Q15040
    UniProtKB/TrEMBL
    Q6IB81
    Related
    ENSP00000506752.1, ENST00000683374.1
    Conserved Domains (1) summary
    pfam02099
    Location:31173
    Josephin
  3. NM_014876.7NP_055691.1  josephin-1

    See identical proteins and their annotated locations for NP_055691.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    BC015026, CA449010, HY026936
    Consensus CDS
    CCDS13976.1
    UniProtKB/Swiss-Prot
    A8K712, Q15040
    UniProtKB/TrEMBL
    Q6IB81
    Conserved Domains (1) summary
    pfam02099
    Location:31173
    Josephin

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    38685543..38701403 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261878.4XP_005261935.1  josephin-1 isoform X1

    See identical proteins and their annotated locations for XP_005261935.1

    UniProtKB/Swiss-Prot
    A8K712, Q15040
    UniProtKB/TrEMBL
    Q6IB81
    Conserved Domains (1) summary
    pfam02099
    Location:31173
    Josephin
  2. XM_047441688.1XP_047297644.1  josephin-1 isoform X1

    UniProtKB/Swiss-Prot
    A8K712, Q15040
    UniProtKB/TrEMBL
    Q6IB81
  3. XM_047441687.1XP_047297643.1  josephin-1 isoform X1

    UniProtKB/Swiss-Prot
    A8K712, Q15040
    UniProtKB/TrEMBL
    Q6IB81
    Related
    ENSP00000216039.5, ENST00000216039.9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    39155750..39171614 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054326252.1XP_054182227.1  josephin-1 isoform X1

    UniProtKB/Swiss-Prot
    A8K712, Q15040
    UniProtKB/TrEMBL
    Q6IB81
  2. XM_054326253.1XP_054182228.1  josephin-1 isoform X1

    UniProtKB/Swiss-Prot
    A8K712, Q15040
    UniProtKB/TrEMBL
    Q6IB81
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