HID1 (HID1 domain containing)

2003-02-01  

Identity

HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
17orf28,C17orf28,DMC1,HID-1

Other Information

Locus ID:

NCBI: 283987
MIM: 605752
HGNC: 15736
Ensembl: ENSG00000167861

Variants:

dbSNP: 283987
ClinVar: 283987
TCGA: ENSG00000167861
COSMIC: HID1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167861ENST00000318565X6R4D2
ENSG00000167861ENST00000425042Q8IV36
ENSG00000167861ENST00000530857E9PMS4
ENSG00000167861ENST00000534480E9PIM7
ENSG00000167861ENST00000581676J3KSF1

Expression (GTEx)

0
50
100
150
200
250
300

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
339994362021Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.2
339994362021Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.2
290745642017HID-1 controls formation of large dense core vesicles by influencing cargo sorting and trans-Golgi network acidification.17
290745642017HID-1 controls formation of large dense core vesicles by influencing cargo sorting and trans-Golgi network acidification.17
213370122011HID-1 is a peripheral membrane protein primarily associated with the medial- and trans- Golgi apparatus.13
213370122011HID-1 is a peripheral membrane protein primarily associated with the medial- and trans- Golgi apparatus.13

Citation

Dessen P

HID1 (HID1 domain containing)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/866/hid1