Human Gene HMHA1 (uc010xgd.2) Description and Page Index
  Description: Homo sapiens histocompatibility (minor) HA-1 (HMHA1), transcript variant 2, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr19:1,065,922-1,086,627 Size: 20,706 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr19:1,066,025-1,086,005 Size: 19,981 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:1,065,922-1,086,627)mRNA (may differ from genome)Protein (1152 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: F6QP70_HUMAN
DESCRIPTION: SubName: Full=Minor histocompatibility antigen HA-1;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HMHA1
CDC HuGE Published Literature: HMHA1
Positive Disease Associations: lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome
Related Studies:
  1. lupus erythematosus; rheumatoid arthritis; Sjogren's syndrome
    Harangi, M. et al. 2004, Homozygosity for the 168His variant of the minor histocompatibility antigen HA-1 is associated with reduced risk of primary Sjogren's syndrome., European journal of immunology. 2005 Jan;35(1):305. [PubMed 15593299]
    Our results suggest that the HA-1 168His variant is associated with reduced susceptibility to primary Sjogren's syndrome.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 95.44 RPKM in Whole Blood
Total median expression: 304.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.50103-0.286 Picture PostScript Text
3' UTR -298.40622-0.480 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001060 - FCH
IPR002219 - Prot_Kinase_C-like_PE/DAG-bd
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom

Pfam Domains:
PF00620 - RhoGAP domain

SCOP Domains:
48350 - GTPase activation domain, GAP
57889 - Cysteine-rich domain

ModBase Predicted Comparative 3D Structure on F6QP70
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK300341 - Homo sapiens cDNA FLJ58624 complete cds, highly similar to Homo sapiens minor histocompatibility antigen HA-1 (HA-1), mRNA.
BC065223 - Homo sapiens histocompatibility (minor) HA-1, mRNA (cDNA clone MGC:75327 IMAGE:5751491), complete cds.
AK304271 - Homo sapiens cDNA FLJ61711 complete cds, highly similar to Homo sapiens minor histocompatibility antigen HA-1 (HA-1), mRNA.
AK304765 - Homo sapiens cDNA FLJ58671 complete cds, highly similar to Homo sapiens minor histocompatibility antigen HA-1 (HA-1), mRNA.
D86976 - Homo sapiens mRNA for KIAA0223 gene.
AB383810 - Synthetic construct DNA, clone: pF1KSDA0223, Homo sapiens HMHA1 gene for minor histocompatibility antigen HA-1, complete cds, without stop codon, in Flexi system.
KJ904696 - Synthetic construct Homo sapiens clone ccsbBroadEn_14090 HMHA1-like gene, encodes complete protein.
BC035564 - Homo sapiens histocompatibility (minor) HA-1, mRNA (cDNA clone IMAGE:5139641), partial cds.
AK128097 - Homo sapiens cDNA FLJ46218 fis, clone TESTI4013474, highly similar to Homo sapiens minor histocompatibility antigen HA-1 (HA-1), mRNA.
AK122776 - Homo sapiens cDNA FLJ16319 fis, clone SPLEN2036076, highly similar to Homo sapiens minor histocompatibility antigen HA-1 (HA-1), mRNA.
BC048129 - Homo sapiens histocompatibility (minor) HA-1, mRNA (cDNA clone IMAGE:5273411), partial cds.
DL491509 - Novel nucleic acids.
DL490118 - Novel nucleic acids.
JD218953 - Sequence 199977 from Patent EP1572962.
JD201114 - Sequence 182138 from Patent EP1572962.
JD519370 - Sequence 500394 from Patent EP1572962.
JD067816 - Sequence 48840 from Patent EP1572962.
JD478218 - Sequence 459242 from Patent EP1572962.
JD252306 - Sequence 233330 from Patent EP1572962.
JD538114 - Sequence 519138 from Patent EP1572962.
JD136792 - Sequence 117816 from Patent EP1572962.
JD390064 - Sequence 371088 from Patent EP1572962.
JD039795 - Sequence 20819 from Patent EP1572962.
DQ591345 - Homo sapiens piRNA piR-58457, complete sequence.
JD270305 - Sequence 251329 from Patent EP1572962.
JD468931 - Sequence 449955 from Patent EP1572962.
JD161318 - Sequence 142342 from Patent EP1572962.
JD173381 - Sequence 154405 from Patent EP1572962.
JD340195 - Sequence 321219 from Patent EP1572962.
JD207361 - Sequence 188385 from Patent EP1572962.
JD490363 - Sequence 471387 from Patent EP1572962.
JD193573 - Sequence 174597 from Patent EP1572962.
JD159336 - Sequence 140360 from Patent EP1572962.
JD384705 - Sequence 365729 from Patent EP1572962.
JD468740 - Sequence 449764 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: F6QP70, F6QP70_HUMAN, NM_001258328, NP_001245257, uc010xgd.1
UCSC ID: uc010xgd.2
RefSeq Accession: NM_001258328
Protein: F6QP70 CCDS: CCDS32863.1, CCDS58637.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001258328.1
exon count: 23CDS single in 3' UTR: no RNA size: 4193
ORF size: 3459CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7106.00frame shift in genome: no % Coverage: 99.79
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.