Human Gene SLC4A1AP (uc002rlk.4) Description and Page Index
  Description: Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr2:27,886,338-27,917,847 Size: 31,510 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr2:27,886,620-27,917,550 Size: 30,931 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:27,886,338-27,917,847)mRNA (may differ from genome)Protein (796 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: NADAP_HUMAN
DESCRIPTION: RecName: Full=Kanadaptin; AltName: Full=Human lung cancer oncogene 3 protein; Short=HLC-3; AltName: Full=Kidney anion exchanger adapter protein; AltName: Full=Solute carrier family 4 anion exchanger member 1 adapter protein;
INTERACTION: Q13418:ILK; NbExp=8; IntAct=EBI-1999704, EBI-747644;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Mainly nuclear. Small amounts are found in the cytoplasm.
TISSUE SPECIFICITY: Ubiquitously expressed.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 1 FHA domain.
CAUTION: PubMed:15764369 initially suggested a role in targeting SLC4A1 (kidney anion exchanger 1) to the plasma membrane; it does not seem to do so as it does not interact with SLC4A1 and has no effect on SLC4A1 trafficking.
SEQUENCE CAUTION: Sequence=AAN12269.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Wikipedia; Note=Band 3 entry; URL="http://en.wikipedia.org/wiki/Band_3";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SLC4A1AP
CDC HuGE Published Literature: SLC4A1AP
Positive Disease Associations: Alzheimer Disease
Related Studies:
  1. Alzheimer Disease
    Mark W Logue et al. Archives of neurology 2011, A comprehensive genetic association study of Alzheimer disease in African Americans., Archives of neurology. [PubMed 22159054]
    Some genes contribute to AD pathogenesis in both white and African American cohorts, although it is unclear whether the causal variants are the same. A larger African American sample will be needed to confirm novel gene associations, which may be population specific.

-  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: 37.87 RPKM in Testis
Total median expression: 710.14 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 -86.11282-0.305 Picture PostScript Text
3' UTR -64.91297-0.219 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
IPR001159 - Ds-RNA-bd
IPR000253 - FHA_dom
IPR008984 - SMAD_FHA_domain

Pfam Domains:
PF00498 - FHA domain

SCOP Domains:
49879 - SMAD/FHA domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

4H87
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9BWU0
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 orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003729 mRNA binding
GO:0005515 protein binding

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  LF385507 - JP 2014500723-A/193010: Polycomb-Associated Non-Coding RNAs.
LF206807 - JP 2014500723-A/14310: Polycomb-Associated Non-Coding RNAs.
AK001486 - Homo sapiens cDNA FLJ10624 fis, clone NT2RP2005525, highly similar to Mus musculus kanadaptin mRNA.
LF385486 - JP 2014500723-A/192989: Polycomb-Associated Non-Coding RNAs.
BC098302 - Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein, mRNA (cDNA clone MGC:120647 IMAGE:40026925), complete cds.
BC098358 - Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein, mRNA (cDNA clone MGC:120645 IMAGE:40026922), complete cds.
BC099711 - Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein, mRNA (cDNA clone MGC:120646 IMAGE:40026923), complete cds.
BC099739 - Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein, mRNA (cDNA clone MGC:120648 IMAGE:40026926), complete cds.
JD322365 - Sequence 303389 from Patent EP1572962.
AY028435 - Homo sapiens adaptor protein kanadaptin mRNA, complete cds.
JD298286 - Sequence 279310 from Patent EP1572962.
KJ893313 - Synthetic construct Homo sapiens clone ccsbBroadEn_02707 SLC4A1AP gene, encodes complete protein.
AK300958 - Homo sapiens cDNA FLJ53855 complete cds, highly similar to Kanadaptin.
AY117688 - Homo sapiens lung cancer oncogene 3 (HLC3) mRNA, complete cds.
LF358125 - JP 2014500723-A/165628: Polycomb-Associated Non-Coding RNAs.
DQ786283 - Homo sapiens clone HLS_IMAGE_429109 mRNA sequence.
AK098323 - Homo sapiens cDNA FLJ41004 fis, clone UTERU2017123.
JD295266 - Sequence 276290 from Patent EP1572962.
U38432 - Human clone JkA2 mRNA induced upon T-cell activation, 3' end.
JD221491 - Sequence 202515 from Patent EP1572962.
JD495666 - Sequence 476690 from Patent EP1572962.
MA621084 - JP 2018138019-A/193010: Polycomb-Associated Non-Coding RNAs.
MA621063 - JP 2018138019-A/192989: Polycomb-Associated Non-Coding RNAs.
MA442384 - JP 2018138019-A/14310: Polycomb-Associated Non-Coding RNAs.
MA593702 - JP 2018138019-A/165628: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NJ39, HLC3, NADAP_HUMAN, NM_018158, NP_060628, Q4KMT1, Q4KMX0, Q7Z5Q9, Q9BWU0, Q9NVN2
UCSC ID: uc002rlk.4
RefSeq Accession: NM_018158
Protein: Q9BWU0 (aka NADAP_HUMAN)
CCDS: CCDS33166.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018158.2
exon count: 14CDS single in 3' UTR: no RNA size: 2982
ORF size: 2391CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4646.00frame shift in genome: no % Coverage: 99.60
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.