Property Summary

NCBI Gene PubMed Count 9
PubMed Score 66.96
PubTator Score 4.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count P-value
glioblastoma multiforme 347 2.09268129211722E-26
adult high grade glioma 2148 6.65614613986601E-8
atypical teratoid / rhabdoid tumor 4369 9.63485762152128E-8
pilocytic astrocytoma 3086 2.50306135246108E-6
medulloblastoma, large-cell 6234 1.06333886282845E-5
group 3 medulloblastoma 2254 2.93143271723453E-5
intraductal papillary-mucinous carcinoma (IPMC) 2988 9.40005190756849E-4
primitive neuroectodermal tumor 3031 0.00100056703186691
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00202386377120517
astrocytic glioma 2241 0.00363618943706032
Pick disease 1893 0.00513696717829486
ependymoma 2514 0.00818550050409409
oligodendroglioma 2849 0.0178086087738175
subependymal giant cell astrocytoma 2287 0.0265965385416289
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

Synonym

Accession Q9HCI5 Q5JXC7 Q86TG0 Q8TD92 Q9H216
Symbols HCA1
DAMAGE

Gene

PANTHER Protein Class (1)

PDB

2H5T  

  Ortholog (3)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid

Gene RIF (4)

PMID Text
23268337 Data suggest that lipid homeostasis may be altered in carriers of selected HCA1 missense variants.
22632162 Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of melanoma antigen family E, 1 (MAGEE1) in U-937 macrophages
20862285 Observational study of gene-disease association. (HuGE Navigator)
14623885 a new dystrobrevin-associated protein that may play a signaling role in brain, muscle, and peripheral nerve

AA Sequence

MSLVSQNSRRRRRRVAKATAHNSSWGEMQAPNAPGLPADVPGSDVPQGPSDSQILQGLCASEGPSTSVLP      1 - 70
TSAEGPSTFVPPTISEASSASGQPTISEGPGTSVLPTPSEGLSTSGPPTISKGLCTSVTLAASEGRNTSR     71 - 140
PPTSSEEPSTSVPPTASEVPSTSLPPTPGEGTSTSVPPTAYEGPSTSVVPTPDEGPSTSVLPTPGEGPGT    141 - 210
SVPLAATEGLSTSVQATPDEGPSTSVPPTATEGLSTPVPPTRDEGPSTSVPATPGEGPSTSVLPAASDGQ    211 - 280
SISLVPTRGKGSSTSVPPTATEGLSTSVQPTAGEGSSTSVPPTPGGGLSTSVPPTATEELSTSVPPTPGE    281 - 350
GPSTSVLPIPGEGLSTSVPPTASDGSDTSVPPTPGEGASTLVQPTAPDGPGSSVLPNPGEGPSTLFSSSA    351 - 420
SVDRNPSKCSLVLPSPRVTKASVDSDSEGPKGAEGPIEFEVLRDCESPNSISIMGLNTSRVAITLKPQDP    421 - 490
MEQNVAELLQFLLVKDQSKYPIRESEMREYIVKEYRNQFPEILRRAAAHLECIFRFELRELDPEAHTYIL    491 - 560
LNKLGPVPFEGLEESPNGPKMGLLMMILGQIFLNGNQAKEAEIWEMLWRMGVQRERRLSIFGNPKRLLSV    561 - 630
EFVWQRYLDYRPVTDCKPVEYEFFWGPRSHLETTKMKILKFMAKIYNKDPMDWPEKYNEALEEDAARAFA    631 - 700
EGWQALPHFRRPFFEEAAAEVPSPDSEVSSYSSKYAPHSWPESRLESKARKLVQLFLLMDSTKLPIPKKG    701 - 770
ILYYIGRECSKVFPDLLNRAARTLNHVYGTELVVLDPRNHSYTLYNRREMEETEEIVDSPNRPGNNFLMQ    771 - 840
VLSFIFIMGNHARESAVWAFLRGLGVQAGRKHVITCRYLSQRYIDSLRVPDSDPVQYEFVWGPRARLETS    841 - 910
KMKALRYVARIHRKEPQDWPQQYREAMEDEANRADVGHRQIFVHNFR                           911 - 957
//

Text Mined References (13)

PMID Year Title
23268337 2013 Naturally occurring HCA1 missense mutations result in loss of function: potential impact on lipid deposition.
23092983 2012 Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
20864041 2010 MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases.
20862285 2010 Frequent MAGE mutations in human melanoma.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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