HID1
Protein HID1
Also known as: C17orf28, DMC1, HID-1, HID1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IV36
- Gene
- HID1
- Ensembl
- ENSG00000167861
- Chromosome
- 17
- Canonical length
- 788 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Golgi apparatus,Cytosol
OverviewNCBI Gene
Predicted to act upstream of or within several processes, including insulin processing; secretory granule maturation; and vacuole fusion, non-autophagic. Located in Golgi apparatus; cytoplasmic microtubule; and cytosol. Implicated in developmental and epileptic encephalopathy 105. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
788 residues, UniProt reviewed canonical sequence.
>Q8IV36|HID1
1 MGSTDSKLNF RKAVIQLTTK TQPVEATDDA FWDQFWADTA TSVQDVFALV PAAEIRAVRE
61 ESPSNLATLC YKAVEKLVQG AESGCHSEKE KQIVLNCSRL LTRVLPYIFE DPDWRGFFWS
121 TVPGAGRGGQ GEEDDEHARP LAESLLLAIA DLLFCPDFTV QSHRRSTVDS AEDVHSLDSC
181 EYIWEAGVGF AHSPQPNYIH DMNRMELLKL LLTCFSEAMY LPPAPESGST NPWVQFFCST
241 ENRHALPLFT SLLNTVCAYD PVGYGIPYNH LLFSDYREPL VEEAAQVLIV TLDHDSASSA
301 SPTVDGTTTG TAMDDADPPG PENLFVNYLS RIHREEDFQF ILKGIARLLS NPLLQTYLPN
361 STKKIQFHQE LLVLFWKLCD FNKKFLFFVL KSSDVLDILV PILFFLNDAR ADQSRVGLMH
421 IGVFILLLLS GERNFGVRLN KPYSIRVPMD IPVFTGTHAD LLIVVFHKII TSGHQRLQPL
481 FDCLLTIVVN VSPYLKSLSM VTANKLLHLL EAFSTTWFLF SAAQNHHLVF FLLEVFNNII
541 QYQFDGNSNL VYAIIRKRSI FHQLANLPTD PPTIHKALQR RRRTPEPLSR TGSQEGTSME
601 GSRPAAPAEP GTLKTSLVAT PGIDKLTEKS QVSEDGTLRS LEPEPQQSLE DGSPAKGEPS
661 QAWREQRRPS TSSASGQWSP TPEWVLSWKS KLPLQTIMRL LQVLVPQVEK ICIDKGLTDE
721 SEILRFLQHG TLVGLLPVPH PILIRKYQAN SGTAMWFRTY MWGVIYLRNV DPPVWYDTDV
781 KLFEIQRVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HID1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 147 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 147 nTPM
- pancreas: 104 nTPM
- salivary gland: 81 nTPM
- stomach: 65 nTPM
- pituitary gland: 41 nTPM
- cerebral cortex: 40 nTPM
Single-cell type
- goblet cells: 116 nCPM
- enterocytes: 101 nCPM
- oligodendrocytes: 65 nCPM
- paneth cells: 62 nCPM
- syncytiotrophoblasts: 60 nCPM
- mucous neck cells: 60 nCPM
Immune cell
- plasmacytoid DC: 2.6 nTPM
- naive CD8 T-cell: 1.1 nTPM
- naive CD4 T-cell: 1 nTPM
- memory CD4 T-cell: 0.9 nTPM
- memory CD8 T-cell: 0.7 nTPM
- memory B-cell: 0.6 nTPM
Brain region
- cerebellum: 103 nTPM
- white matter: 97 nTPM
- cerebral cortex: 85 nTPM
- pons: 80 nTPM
- medulla oblongata: 75 nTPM
- thalamus: 71 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HID1.
Disease | AllUniProt
Conditions HID1 is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 105 with hypopituitarism (DEE105) MIM:619983
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 159 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy 105 with hypopituitarism
- See cases
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.47
- gnomAD pLI
- 0.03
- gnomAD missense Z
- 2.27
- DepMap mean gene effect
- -0.24
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- insulin processing
- response to glucose
- vacuole fusion, non-autophagic
- secretory granule maturation
Cellular components
Protein domainsUniProt · Pfam · InterPro
- HID1/Ecm30
- High-temperature-induced dauer-formation protein
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of HID1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HID1 as an antibody target. Whether an autoantibody or antibody against HID1 could matter depends on whether native HID1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HID1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label HID1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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