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HID1 HID1 domain containing [ Homo sapiens (human) ]

Gene ID: 283987, updated on 5-Mar-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 cisterna; cytoplasmic microtubule; and cytosol. Is extrinsic component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74950742..74972759, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75842545..75864555, complement)
105.20220307 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. 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
  3. 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
  4. 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
  5. 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

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)

Genotypes

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_2023_10

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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