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    HID1 HID1 domain containing [ Homo sapiens (human) ]

    Gene ID: 283987, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HID1provided by HGNC
    Official Full Name
    HID1 domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:15736
    See related
    Ensembl:ENSG00000167861 MIM:605752; AllianceGenome:HGNC:15736
    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
    DMC1; HID-1; DEE105; 17orf28; C17orf28
    Summary
    Located in Golgi apparatus; cytoplasmic microtubule; and cytosol. Implicated in developmental and epileptic encephalopathy 105. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in stomach (RPKM 20.2), prostate (RPKM 17.0) and 21 other tissues See more
    Orthologs
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    Genomic context

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    See HID1 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74950742..74972759, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75842545..75864555, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72946837..72968854, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72920304-72920487 Neighboring gene Sharpr-MPRA regulatory region 12431 Neighboring gene otopetrin 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:72939523-72940722 Neighboring gene otopetrin 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72946212-72947170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12723 Neighboring gene Sharpr-MPRA regulatory region 11423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72959394-72959894 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72960959-72961117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8947 Neighboring gene HID1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72978097-72979046 Neighboring gene uncharacterized LOC124904058 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:72983565-72984066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72989567-72990068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72990069-72990568 Neighboring gene cerebellar degeneration related protein 2 like

    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. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. Schänzer A, et al. Ann Neurol, 2021 Jul. PMID 33999436, Free PMC Article
    2. Identification of DMC1, a novel gene in the TOC region on 17q25.1 that shows loss of expression in multiple human cancers. Harada H, et al. J Hum Genet, 2001. PMID 11281419
    3. HID-1 controls formation of large dense core vesicles by influencing cargo sorting and trans-Golgi network acidification. Hummer BH, et al. Mol Biol Cell, 2017 Dec 15. PMID 29074564, Free PMC Article
    4. The meiosis-specific recombinase hDmc1 forms ring structures and interacts with hRad51. Masson JY, et al. EMBO J, 1999 Nov 15. PMID 10562567, Free PMC Article
    5. HID-1 is a peripheral membrane protein primarily associated with the medial- and trans- Golgi apparatus. Wang L, et al. Protein Cell, 2011 Jan. PMID 21337012, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
      Title: Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
    2. Authors propose that HID-1 influences early steps in LDCV formation by controlling dense core formation at the TGN.
      Title: HID-1 controls formation of large dense core vesicles by influencing cargo sorting and trans-Golgi network acidification.
    3. mammalian HID-1 localized to the medial- and trans- Golgi apparatus as well as the cytosol.
      Title: HID-1 is a peripheral membrane protein primarily associated with the medial- and trans- Golgi apparatus.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Developmental and epileptic encephalopathy 105 with hypopituitarism
    MedGen: C5774190 OMIM: 619983 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of chromosome 17 open reading frame 28 (C17orf28) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ43526

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in Golgi medial cisterna IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi medial cisterna IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in Golgi trans cisterna IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi trans cisterna IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic side of Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein HID1
    Names
    HID1 domain-containing protein
    UPF0663 transmembrane protein C17orf28
    down-regulated in multiple cancers 1
    downregulated in multiple cancer 1
    protein hid-1 homolog

    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_030630.3 → NP_085133.1  protein HID1

      See identical proteins and their annotated locations for NP_085133.1

      Status: VALIDATED

      Source sequence(s)
      AC087651, BC032219, BC035372, BX496609, DA336027
      Consensus CDS
      CCDS32726.1
      UniProtKB/Swiss-Prot
      Q8IV36, Q8N5L6, Q8TE83, Q9NT34
      Related
      ENSP00000413520.2, ENST00000425042.7
      Conserved Domains (1) summary
      pfam12722
      Location:1 → 785
      Hid1; High-temperature-induced dauer-formation protein

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      74950742..74972759 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257226.3 → XP_005257283.1  protein HID1 isoform X1

      UniProtKB/Swiss-Prot
      Q8IV36
      Conserved Domains (1) summary
      pfam12722
      Location:1 → 784
      Hid1; High-temperature-induced dauer-formation protein

    2. XM_047435761.1 → XP_047291717.1  protein HID1 isoform X3

    3. XM_047435760.1 → XP_047291716.1  protein HID1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      75842545..75864555 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315732.1 → XP_054171707.1  protein HID1 isoform X1

    2. XM_054315734.1 → XP_054171709.1  protein HID1 isoform X3

    3. XM_054315733.1 → XP_054171708.1  protein HID1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IV36.1 GenPept UniProtKB/Swiss-Prot:Q8IV36

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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