Human Gene AHDC1 (uc009vsy.3) Description and Page Index
  Description: Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.
RefSeq Summary (NM_001029882): This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments and orthologous data. ##Evidence-Data-START## CDS exon combination :: AK125431.1, BG747705.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr1:27,860,756-27,930,143 Size: 69,388 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr1:27,873,815-27,878,626 Size: 4,812 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:27,860,756-27,930,143)mRNA (may differ from genome)Protein (1603 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: AHDC1_HUMAN
DESCRIPTION: RecName: Full=AT-hook DNA-binding motif-containing protein 1;
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 2 A.T hook DNA-binding domains.
SEQUENCE CAUTION: Sequence=AAB50205.1; Type=Frameshift; Positions=1331; Sequence=BAC86163.1; Type=Erroneous initiation; Sequence=CAI19618.1; Type=Erroneous gene model prediction;

-  MalaCards Disease Associations
  MalaCards Gene Search: AHDC1
Diseases sorted by gene-association score: xia-gibbs syndrome* (1269), sleep apnea* (413), obstructive sleep apnea* (400), alacrima, achalasia, and mental retardation syndrome* (80), intellectual disability* (73), spastic cerebral palsy (5), conotruncal heart malformations (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 24.20 RPKM in Brain - Cerebellum
Total median expression: 583.95 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -434.70969-0.449 Picture PostScript Text
3' UTR -187.52715-0.262 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
IPR017956 - AT_hook_DNA-bd_motif

Pfam Domains:
PF15735 - Domain of unknown function (DUF4683)

ModBase Predicted Comparative 3D Structure on Q5TGY3
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     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding


-  Descriptions from all associated GenBank mRNAs
  BC064935 - Homo sapiens AT hook, DNA binding motif, containing 1, mRNA (cDNA clone IMAGE:6152308).
BC042058 - Homo sapiens cDNA clone IMAGE:5588836, **** WARNING: chimeric clone ****.
BC002677 - Homo sapiens AT hook, DNA binding motif, containing 1, mRNA (cDNA clone IMAGE:3609357), partial cds.
BC014394 - Homo sapiens AT hook, DNA binding motif, containing 1, mRNA (cDNA clone IMAGE:3610205), partial cds.
AK125431 - Homo sapiens cDNA FLJ43442 fis, clone OCBBF2030708.
U79259 - Human clone 23945 mRNA, complete cds.
JD352744 - Sequence 333768 from Patent EP1572962.
JD535065 - Sequence 516089 from Patent EP1572962.
JD475015 - Sequence 456039 from Patent EP1572962.
JD117460 - Sequence 98484 from Patent EP1572962.
JD188738 - Sequence 169762 from Patent EP1572962.
KJ902464 - Synthetic construct Homo sapiens clone ccsbBroadEn_11858 AHDC1 gene, encodes complete protein.
BC152907 - Synthetic construct Homo sapiens clone IMAGE:100016166, MGC:184147 AT hook, DNA binding motif, containing 1 (AHDC1) mRNA, encodes complete protein.
AB527343 - Synthetic construct DNA, clone: pF1KE0076, Homo sapiens AHDC1 gene for AT hook, DNA binding motif, containing 1, without stop codon, in Flexi system.
JD138891 - Sequence 119915 from Patent EP1572962.
JD112653 - Sequence 93677 from Patent EP1572962.
JD188088 - Sequence 169112 from Patent EP1572962.
JD438079 - Sequence 419103 from Patent EP1572962.
JD399328 - Sequence 380352 from Patent EP1572962.
JD172941 - Sequence 153965 from Patent EP1572962.
JD061339 - Sequence 42363 from Patent EP1572962.
JD463416 - Sequence 444440 from Patent EP1572962.
JD423513 - Sequence 404537 from Patent EP1572962.
JD544097 - Sequence 525121 from Patent EP1572962.
JD069285 - Sequence 50309 from Patent EP1572962.
JD104877 - Sequence 85901 from Patent EP1572962.
JD187229 - Sequence 168253 from Patent EP1572962.
JD474758 - Sequence 455782 from Patent EP1572962.
JD111618 - Sequence 92642 from Patent EP1572962.
JD111617 - Sequence 92641 from Patent EP1572962.
JD435118 - Sequence 416142 from Patent EP1572962.
JD475564 - Sequence 456588 from Patent EP1572962.
JD343773 - Sequence 324797 from Patent EP1572962.
JD460849 - Sequence 441873 from Patent EP1572962.
JD419178 - Sequence 400202 from Patent EP1572962.
JD485545 - Sequence 466569 from Patent EP1572962.
JD320861 - Sequence 301885 from Patent EP1572962.
JD460257 - Sequence 441281 from Patent EP1572962.
JD361753 - Sequence 342777 from Patent EP1572962.
JD523108 - Sequence 504132 from Patent EP1572962.
JD128859 - Sequence 109883 from Patent EP1572962.
JD212022 - Sequence 193046 from Patent EP1572962.
JD361552 - Sequence 342576 from Patent EP1572962.
JD441812 - Sequence 422836 from Patent EP1572962.
JD331139 - Sequence 312163 from Patent EP1572962.
JD475620 - Sequence 456644 from Patent EP1572962.
JD376506 - Sequence 357530 from Patent EP1572962.
JD380805 - Sequence 361829 from Patent EP1572962.
JD044941 - Sequence 25965 from Patent EP1572962.
JD437175 - Sequence 418199 from Patent EP1572962.
JD162624 - Sequence 143648 from Patent EP1572962.
JD368260 - Sequence 349284 from Patent EP1572962.
JD473242 - Sequence 454266 from Patent EP1572962.
JD068245 - Sequence 49269 from Patent EP1572962.
JD402976 - Sequence 384000 from Patent EP1572962.
JD164275 - Sequence 145299 from Patent EP1572962.
JD168596 - Sequence 149620 from Patent EP1572962.
JD495024 - Sequence 476048 from Patent EP1572962.
JD279219 - Sequence 260243 from Patent EP1572962.
JD269926 - Sequence 250950 from Patent EP1572962.
JD406333 - Sequence 387357 from Patent EP1572962.
JD129249 - Sequence 110273 from Patent EP1572962.
JD276355 - Sequence 257379 from Patent EP1572962.
JD241181 - Sequence 222205 from Patent EP1572962.
JD216840 - Sequence 197864 from Patent EP1572962.
JD203651 - Sequence 184675 from Patent EP1572962.
JD143603 - Sequence 124627 from Patent EP1572962.
JD071663 - Sequence 52687 from Patent EP1572962.
JD475826 - Sequence 456850 from Patent EP1572962.
JD338711 - Sequence 319735 from Patent EP1572962.
JD439583 - Sequence 420607 from Patent EP1572962.
JD210870 - Sequence 191894 from Patent EP1572962.
JD101585 - Sequence 82609 from Patent EP1572962.
JD270393 - Sequence 251417 from Patent EP1572962.
JD051595 - Sequence 32619 from Patent EP1572962.
JD193665 - Sequence 174689 from Patent EP1572962.
JD532898 - Sequence 513922 from Patent EP1572962.
JD261497 - Sequence 242521 from Patent EP1572962.
JD201210 - Sequence 182234 from Patent EP1572962.
JD224230 - Sequence 205254 from Patent EP1572962.
JD532405 - Sequence 513429 from Patent EP1572962.
JD322767 - Sequence 303791 from Patent EP1572962.
JD252455 - Sequence 233479 from Patent EP1572962.
JD100526 - Sequence 81550 from Patent EP1572962.
JD123843 - Sequence 104867 from Patent EP1572962.
JD387814 - Sequence 368838 from Patent EP1572962.
JD493265 - Sequence 474289 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AHDC1_HUMAN, NM_001029882, NP_001025053, Q5TGY3, Q5TGY4, Q6PJK1, Q6ZUQ6, Q99769, Q9NUF5
UCSC ID: uc009vsy.3
RefSeq Accession: NM_001029882
Protein: Q5TGY3 (aka AHDC1_HUMAN)
CCDS: CCDS30652.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001029882.2
exon count: 7CDS single in 3' UTR: no RNA size: 6512
ORF size: 4812CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 9095.50frame shift in genome: no % Coverage: 99.75
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 138# 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.