Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SLC4A1AP (solute carrier family 4 member 1 adaptor protein)

Identity

Alias_namessolute carrier family 4 (anion exchanger), member 1, adapter protein
solute carrier family 4 (anion exchanger), member 1, adaptor protein
Alias_symbol (synonym)kanadaptin
HLC3
Other alias
HGNC (Hugo) SLC4A1AP
LocusID (NCBI) 22950
Atlas_Id 54640
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 27663471 and ends at 27694980 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BID (22q11.21) / SLC4A1AP (2p23.3)MRPL33 (2p23.2) / SLC4A1AP (2p23.3)SLC4A1AP (2p23.3) / GPN1 (2p23.3)
TANC1 (2q24.2) / SLC4A1AP (2p23.3)TMEM107 (17p13.1) / SLC4A1AP (2p23.3)SLC4A1AP 2p23.3 / GPN1 2p23.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SLC4A1AP   13813
Cards
Entrez_Gene (NCBI)SLC4A1AP  22950  solute carrier family 4 member 1 adaptor protein
AliasesHLC3
GeneCards (Weizmann)SLC4A1AP
Ensembl hg19 (Hinxton)ENSG00000163798 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163798 [Gene_View]  chr2:27663471-27694980 [Contig_View]  SLC4A1AP [Vega]
ICGC DataPortalENSG00000163798
TCGA cBioPortalSLC4A1AP
AceView (NCBI)SLC4A1AP
Genatlas (Paris)SLC4A1AP
WikiGenes22950
SOURCE (Princeton)SLC4A1AP
Genetics Home Reference (NIH)SLC4A1AP
Genomic and cartography
GoldenPath hg38 (UCSC)SLC4A1AP  -     chr2:27663471-27694980 +  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SLC4A1AP  -     2p23.3   [Description]    (hg19-Feb_2009)
EnsemblSLC4A1AP - 2p23.3 [CytoView hg19]  SLC4A1AP - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBISLC4A1AP [Mapview hg19]  SLC4A1AP [Mapview hg38]
OMIM602655   
Gene and transcription
Genbank (Entrez)AK001486 AK098323 AK300958 AY028435 AY117688
RefSeq transcript (Entrez)NM_018158
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SLC4A1AP
Cluster EST : UnigeneHs.306000 [ NCBI ]
CGAP (NCI)Hs.306000
Alternative Splicing GalleryENSG00000163798
Gene ExpressionSLC4A1AP [ NCBI-GEO ]   SLC4A1AP [ EBI - ARRAY_EXPRESS ]   SLC4A1AP [ SEEK ]   SLC4A1AP [ MEM ]
Gene Expression Viewer (FireBrowse)SLC4A1AP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22950
GTEX Portal (Tissue expression)SLC4A1AP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BWU0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BWU0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BWU0
Splice isoforms : SwissVarQ9BWU0
PhosPhoSitePlusQ9BWU0
Domaine pattern : Prosite (Expaxy)FHA_DOMAIN (PS50006)   
Domains : Interpro (EBI)dsRBD_dom    FHA_dom    SMAD_FHA_domain   
Domain families : Pfam (Sanger)dsrm (PF00035)    FHA (PF00498)   
Domain families : Pfam (NCBI)pfam00035    pfam00498   
Domain families : Smart (EMBL)FHA (SM00240)  
Conserved Domain (NCBI)SLC4A1AP
DMDM Disease mutations22950
Blocks (Seattle)SLC4A1AP
PDB (SRS)4H87   
PDB (PDBSum)4H87   
PDB (IMB)4H87   
PDB (RSDB)4H87   
Structural Biology KnowledgeBase4H87   
SCOP (Structural Classification of Proteins)4H87   
CATH (Classification of proteins structures)4H87   
SuperfamilyQ9BWU0
Human Protein AtlasENSG00000163798
Peptide AtlasQ9BWU0
HPRD04038
IPIIPI00306749   IPI00982255   IPI00894411   
Protein Interaction databases
DIP (DOE-UCLA)Q9BWU0
IntAct (EBI)Q9BWU0
FunCoupENSG00000163798
BioGRIDSLC4A1AP
STRING (EMBL)SLC4A1AP
ZODIACSLC4A1AP
Ontologies - Pathways
QuickGOQ9BWU0
Ontology : AmiGOmRNA binding  protein binding  nucleoplasm  cytoplasm  plasma membrane  intracellular membrane-bounded organelle  
Ontology : EGO-EBImRNA binding  protein binding  nucleoplasm  cytoplasm  plasma membrane  intracellular membrane-bounded organelle  
NDEx NetworkSLC4A1AP
Atlas of Cancer Signalling NetworkSLC4A1AP
Wikipedia pathwaysSLC4A1AP
Orthology - Evolution
OrthoDB22950
GeneTree (enSembl)ENSG00000163798
Phylogenetic Trees/Animal Genes : TreeFamSLC4A1AP
HOVERGENQ9BWU0
HOGENOMQ9BWU0
Homologs : HomoloGeneSLC4A1AP
Homology/Alignments : Family Browser (UCSC)SLC4A1AP
Gene fusions - Rearrangements
Fusion : MitelmanSLC4A1AP/GPN1 [2p23.3/2p23.3]  
Fusion : MitelmanTANC1/SLC4A1AP [2q24.2/2p23.3]  [t(2;2)(p23;q24)]  
Fusion: TCGASLC4A1AP 2p23.3 GPN1 2p23.3 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSLC4A1AP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SLC4A1AP
dbVarSLC4A1AP
ClinVarSLC4A1AP
1000_GenomesSLC4A1AP 
Exome Variant ServerSLC4A1AP
ExAC (Exome Aggregation Consortium)SLC4A1AP (select the gene name)
Genetic variants : HAPMAP22950
Genomic Variants (DGV)SLC4A1AP [DGVbeta]
DECIPHERSLC4A1AP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSLC4A1AP 
Mutations
ICGC Data PortalSLC4A1AP 
TCGA Data PortalSLC4A1AP 
Broad Tumor PortalSLC4A1AP
OASIS PortalSLC4A1AP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSLC4A1AP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSLC4A1AP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SLC4A1AP
DgiDB (Drug Gene Interaction Database)SLC4A1AP
DoCM (Curated mutations)SLC4A1AP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SLC4A1AP (select a term)
intoGenSLC4A1AP
Cancer3DSLC4A1AP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602655   
Orphanet
MedgenSLC4A1AP
Genetic Testing Registry SLC4A1AP
NextProtQ9BWU0 [Medical]
TSGene22950
GENETestsSLC4A1AP
Huge Navigator SLC4A1AP [HugePedia]
snp3D : Map Gene to Disease22950
BioCentury BCIQSLC4A1AP
ClinGenSLC4A1AP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22950
Chemical/Pharm GKB GenePA37811
Clinical trialSLC4A1AP
Miscellaneous
canSAR (ICR)SLC4A1AP (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSLC4A1AP
EVEXSLC4A1AP
GoPubMedSLC4A1AP
iHOPSLC4A1AP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:37:52 CEST 2017

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