HID1 Domain-Containing Protein 1

Alternative Names

  • HID1
  • Downregulated In Multiple Cancers 1
  • DMC1
  • Chromosome 17 Open Reading Frame 28
  • C17ORF28
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OMIM Number

605752

NCBI Gene ID

283987

Uniprot ID

Q8IV36

Length

22,018 bases

No. of Exons

20

No. of isoforms

3

Protein Name

Protein HID1

Molecular Mass

88745 Da

Amino Acid Count

788

Genomic Location

chr17:74,950,742-74,972,759

Gene Map Locus
17q25.1

Description

The C17ORF28 gene encodes an integral membrane protein belonging to the ‘inside-out’ class of membrane proteins. It consists of a cytoplasmic domain at its N-terminus, a single transmembrane peptide and an extracellular domain at its C-terminus. It is also found in the cytoplasm where it shuttles between the Golgi apparatus and the cytosol. As expression of the gene is seen to be reduced in several cancer cell lines, it has been suggested to play a role in tumor suppression. The gene is thus also designated as DMC1 or ‘Downregulated in Multiple Cancers-1’. 

While the C17ORF28 gene is yet to be fully characterized, recent studies on lower orthologs have identified its role in the peptidergic signaling pathway, intracellular trafficking within the Golgi region and maturation of secretory granules generated at the trans-Golgi network. Two additional isoforms of the C17ORF28 protein exist due to alternatively spliced transcript variants. While the gene is expressed in the heart, skeletal muscle, colon, spleen, kidney, liver, small intestine and lung, highest expression is seen in the brain and placenta.  

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_030630.3:c.1598T>CTunisiaNC_000017.11:g.74955830A>GLikely PathogenicDevelopmental and Epileptic Encephalopathy 105 with HypopituitarismNM_030630.3:c.1598T>C; NP_085133.1:p.Leu533Pro
NM_030630.3:c.2318dupSaudi ArabiaNC_000017.11:g.74951624dupPathogenicPathogenicDevelopmental and Epileptic Encephalopathy 105 with HypopituitarismNM_030630.3:c.2318dup; NP_085133.1:p.Val774CysfsTer111700642
NM_030630.3:c.388C>TTunisiaNC_000017.11:g.74963081G>ALikely PathogenicDevelopmental and Epileptic Encephalopathy 105 with HypopituitarismNM_030630.3:c.388C>T; NP_085133.1:p.Gln130Ter
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