Human Gene ANKHD1 (ENST00000360839.7_4) from GENCODE V47lift37
  Description: ankyrin repeat and KH domain containing 1, transcript variant 1 (from RefSeq NM_017747.3)
Gencode Transcript: ENST00000360839.7_4
Gencode Gene: ENSG00000131503.21_10
Transcript (Including UTRs)
   Position: hg19 chr5:139,781,418-139,919,434 Size: 138,017 Total Exon Count: 34 Strand: +
Coding Region
   Position: hg19 chr5:139,781,553-139,919,003 Size: 137,451 Coding Exon Count: 34 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:139,781,418-139,919,434)mRNA (may differ from genome)Protein (2542 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ANKH1_HUMAN
DESCRIPTION: RecName: Full=Ankyrin repeat and KH domain-containing protein 1; AltName: Full=HIV-1 Vpr-binding ankyrin repeat protein; AltName: Full=Multiple ankyrin repeats single KH domain; Short=hMASK;
FUNCTION: May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases.
SUBUNIT: Interacts with PTPN11. Isoform 2 interacts with HIV-1 VPR.
INTERACTION: Q9NRI5:DISC1; NbExp=6; IntAct=EBI-1785446, EBI-529989;
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Ubiquitous with high expression in cervix, spleen and brain. Expressed in hematopoietic cells with increased expression in leukemia cells. Isoform 2 is highly expressed in spleen with almost no expression in muscle and brain.
SIMILARITY: Belongs to the mask family.
SIMILARITY: Contains 25 ANK repeats.
SIMILARITY: Contains 1 KH domain.
SEQUENCE CAUTION: Sequence=BAA91417.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB13958.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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: 26.36 RPKM in Spleen
Total median expression: 733.70 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 -58.00135-0.430 Picture PostScript Text
3' UTR -90.80431-0.211 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
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR004087 - KH_dom
IPR004088 - KH_dom_type_1

Pfam Domains:
PF00013 - KH domain
PF00023 - Ankyrin repeat
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)

SCOP Domains:
140860 - Pseudo ankyrin repeat-like
52540 - P-loop containing nucleoside triphosphate hydrolases
48403 - Ankyrin repeat
54791 - Eukaryotic type KH-domain (KH-domain type I)
54814 - Prokaryotic type KH domain (KH-domain type II)

ModBase Predicted Comparative 3D Structure on Q8IWZ3
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 DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0045087 innate immune response

Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK074173 - Homo sapiens mRNA for FLJ00246 protein.
BC144623 - Homo sapiens cDNA clone IMAGE:9053154.
AF521882 - Homo sapiens multiple ankyrin repeats single KH domain protein isoform 1 mRNA, complete cds, alternatively spliced.
AF521883 - Homo sapiens multiple ankyrin repeats single KH domain protein isoform 2 mRNA, complete cds, alternatively spliced.
BC172415 - Synthetic construct Homo sapiens clone IMAGE:100069109, MGC:199120 ankyrin repeat and KH domain containing 1 (ANKHD1) mRNA, encodes complete protein.
BC172416 - Synthetic construct Homo sapiens clone IMAGE:100069110, MGC:199121 ANKHD1-EIF4EBP3 readthrough transcript (ANKHD1-EIF4EBP3) mRNA, encodes complete protein.
AK000295 - Homo sapiens cDNA FLJ20288 fis, clone HEP04414.
AY070436 - Homo sapiens hypothetical protein mRNA, complete cds.
AK098574 - Homo sapiens cDNA FLJ25708 fis, clone TST04928.
AF258557 - Homo sapiens PP2500 mRNA, complete cds.
BC004457 - Homo sapiens ankyrin repeat and KH domain containing 1, mRNA (cDNA clone IMAGE:2819955), complete cds.
BC009909 - Homo sapiens ankyrin repeat and KH domain containing 1, mRNA (cDNA clone IMAGE:2819955), complete cds.
JD141098 - Sequence 122122 from Patent EP1572962.
BC117677 - Homo sapiens ankyrin repeat and KH domain containing 1, mRNA (cDNA clone IMAGE:40069780), complete cds.
BC117678 - Homo sapiens ankyrin repeat and KH domain containing 1, mRNA (cDNA clone IMAGE:40069781), complete cds.
BC127127 - Homo sapiens ankyrin repeat and KH domain containing 1, mRNA (cDNA clone IMAGE:40069785), complete cds.
BC150486 - Homo sapiens ankyrin repeat and KH domain containing 1, mRNA (cDNA clone IMAGE:40069786), complete cds.
BC009420 - Homo sapiens ankyrin repeat and KH domain containing 1, mRNA (cDNA clone IMAGE:3535485), complete cds.
KJ899033 - Synthetic construct Homo sapiens clone ccsbBroadEn_08427 ANKHD1 gene, encodes complete protein.
JD217048 - Sequence 198072 from Patent EP1572962.
JD477081 - Sequence 458105 from Patent EP1572962.
JD099274 - Sequence 80298 from Patent EP1572962.
JD186848 - Sequence 167872 from Patent EP1572962.
JD186852 - Sequence 167876 from Patent EP1572962.
JD274370 - Sequence 255394 from Patent EP1572962.
JD409035 - Sequence 390059 from Patent EP1572962.
AK022041 - Homo sapiens cDNA FLJ11979 fis, clone HEMBB1001282, weakly similar to ANKYRIN R.
JD350414 - Sequence 331438 from Patent EP1572962.
JD061215 - Sequence 42239 from Patent EP1572962.
JD113839 - Sequence 94863 from Patent EP1572962.
JD158342 - Sequence 139366 from Patent EP1572962.
CU678730 - Synthetic construct Homo sapiens gateway clone IMAGE:100017261 5' read ANKHD1 mRNA.
KJ906204 - Synthetic construct Homo sapiens clone ccsbBroadEn_15874 ANKHD1 gene, encodes complete protein.
AK000904 - Homo sapiens cDNA FLJ10042 fis, clone HEMBA1001043, weakly similar to ANKYRIN, BRAIN VARIANT 2.
AK024056 - Homo sapiens cDNA FLJ13994 fis, clone Y79AA1002208, weakly similar to ANKYRIN.
JD024128 - Sequence 5152 from Patent EP1572962.
AF217646 - Homo sapiens clone APAP2 hypothetical protein mRNA, partial cds.
JD028706 - Sequence 9730 from Patent EP1572962.
DQ571428 - Homo sapiens piRNA piR-31540, complete sequence.
BC073958 - Homo sapiens cDNA clone IMAGE:6047883, **** WARNING: chimeric clone ****.
AK024189 - Homo sapiens cDNA FLJ14127 fis, clone MAMMA1002573, weakly similar to GLUCOAMYLASE S1/S2 PRECURSOR (EC 3.2.1.3).
BC040231 - Homo sapiens ankyrin repeat and KH domain containing 1, mRNA (cDNA clone IMAGE:4804428), complete cds.
AL136943 - Homo sapiens mRNA; cDNA DKFZp586G1024 (from clone DKFZp586G1024).
JD440336 - Sequence 421360 from Patent EP1572962.
JD169982 - Sequence 151006 from Patent EP1572962.
JF432842 - Synthetic construct Homo sapiens clone IMAGE:100074163 ankyrin repeat and KH domain containing 1 (ANKHD1) gene, encodes complete protein.
KJ902709 - Synthetic construct Homo sapiens clone ccsbBroadEn_12103 ANKHD1 gene, encodes complete protein.
AK125734 - Homo sapiens cDNA FLJ43746 fis, clone TESTI2023254.
AB029008 - Homo sapiens mRNA for KIAA1085 protein, partial cds.
AK022433 - Homo sapiens cDNA FLJ12371 fis, clone MAMMA1002434.
JD081695 - Sequence 62719 from Patent EP1572962.
JD172190 - Sequence 153214 from Patent EP1572962.
JD139514 - Sequence 120538 from Patent EP1572962.
JD304462 - Sequence 285486 from Patent EP1572962.
JD073317 - Sequence 54341 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NH85, ANKH1_HUMAN, ENST00000360839.1, ENST00000360839.2, ENST00000360839.3, ENST00000360839.4, ENST00000360839.5, ENST00000360839.6, KIAA1085, MASK, NM_017747, PP2500, Q149P2, Q8IWZ2, Q8IWZ3, Q8WY90, Q96G77, Q96GK0, Q9H2U0, Q9HA95, Q9NWG4, Q9UPR7, uc318bti.1, uc318bti.2, VBARP
UCSC ID: ENST00000360839.7_4
RefSeq Accession: NM_017747.3
Protein: Q8IWZ3 (aka ANKH1_HUMAN)

-  Gene Model Information
  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.