Aliases for SLC4A1AP Gene

Aliases for SLC4A1AP Gene

  • Solute Carrier Family 4 Member 1 Adaptor Protein 2 3 5
  • Kanadaptin 2 3 4
  • Solute Carrier Family 4 (Anion Exchanger), Member 1, Adapter Protein 2 3
  • Solute Carrier Family 4 (Anion Exchanger), Member 1, Adaptor Protein 2 3
  • Solute Carrier Family 4 Anion Exchanger Member 1 Adapter Protein 3 4
  • Kidney Anion Exchanger Adapter Protein 3 4
  • Human Lung Cancer Oncogene 3 Protein 3 4
  • Lung Cancer Oncogene 3 2 3
  • HLC-3 3 4
  • HLC3 2 3
  • Kidney Anion Exchanger Adaptor Protein 3
  • SLC4A1AP 5

External Ids for SLC4A1AP Gene

Previous GeneCards Identifiers for SLC4A1AP Gene

  • GC02P027807
  • GC02P027978
  • GC02P027844
  • GC02P027861
  • GC02P027862
  • GC02P027797
  • GC02P027739
  • GC02P027886
  • GC02P027627

Summaries for SLC4A1AP Gene

GeneCards Summary for SLC4A1AP Gene

SLC4A1AP (Solute Carrier Family 4 Member 1 Adaptor Protein) is a Protein Coding gene. Diseases associated with SLC4A1AP include Laminopathy and Bare Lymphocyte Syndrome, Type I. An important paralog of this gene is PPP1R8.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC4A1AP Gene

Genomics for SLC4A1AP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC4A1AP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J027662 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 262.6 +0.7 730 3.6 TBP SP1 BCL11A MXD4 FEZF1 CEBPA SIX5 NR2C1 MNT DEK SUPT7L SLC4A1AP GTF3C2 IFT172 CAD ZNF512 GPN1 ENSG00000234072 SNX17 NRBP1
GH02J027680 Enhancer 1.2 Ensembl ENCODE dbSUPER 22.5 +20.5 20515 6.4 MXD4 DEK ZNF217 CTCF ZEB1 HOMEZ THAP11 ZNF513 REST FOXA2 SLC4A1AP SUPT7L LINC01460 CCDC121 GPN1 ZNF512 C2orf16 KRTCAP3 OST4 HSALNG0013833
GH02J027884 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.4 +225.2 225194 7.5 ZSCAN16 ZBTB10 SP1 NR2C1 MNT SMAD5 ZNF217 POLR2A BRCA1 BHLHE40 BABAM2 RBKS PPP1CB EMILIN1 CAD GTF3C2 NRBP1 GTF3C2-AS1 TRMT61B KRTCAP3
GH02J027636 Enhancer 0.8 Ensembl ENCODE dbSUPER 11.6 -25.2 -25246 3.2 JUND GLIS1 ZNF512 NFIB NFIC piR-43107-150 SNX17 SLC4A1AP KRTCAP3 CGREF1 OST4 ENSG00000206731 CCDC121 GPN1
GH02J027689 Enhancer 0.3 Ensembl ENCODE 22.8 +26.3 26296 0.5 HSALNG0013834 SLC4A1AP SUPT7L LINC01460 GPN1 CCDC121 ZNF512 C2orf16 FNDC4 HSALNG0013833
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC4A1AP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC4A1AP

Top Transcription factor binding sites by QIAGEN in the SLC4A1AP gene promoter:
  • Elk-1
  • En-1
  • PPAR-alpha
  • Spz1
  • STAT3
  • STAT5A
  • TBP
  • TFIID

Genomic Locations for SLC4A1AP Gene

Latest Assembly
chr2:27,663,471-27,694,980
(GRCh38/hg38)
Size:
31,510 bases
Orientation:
Plus strand

Previous Assembly
chr2:27,886,338-27,917,847
(GRCh37/hg19 by Entrez Gene)
Size:
31,510 bases
Orientation:
Plus strand

chr2:27,886,338-27,917,840
(GRCh37/hg19 by Ensembl)
Size:
31,503 bases
Orientation:
Plus strand

Genomic View for SLC4A1AP Gene

Genes around SLC4A1AP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC4A1AP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC4A1AP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC4A1AP Gene

Proteins for SLC4A1AP Gene

  • Protein details for SLC4A1AP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWU0-NADAP_HUMAN
    Recommended name:
    Kanadaptin
    Protein Accession:
    Q9BWU0
    Secondary Accessions:
    • A6NJ39
    • Q4KMT1
    • Q4KMX0
    • Q7Z5Q9
    • Q9NVN2

    Protein attributes for SLC4A1AP Gene

    Size:
    796 amino acids
    Molecular mass:
    88814 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAN12269.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SLC4A1AP Gene

neXtProt entry for SLC4A1AP Gene

Post-translational modifications for SLC4A1AP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC4A1AP Gene

Antibodies for research

  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC4A1AP

No data available for DME Specific Peptides for SLC4A1AP Gene

Domains & Families for SLC4A1AP Gene

Gene Families for SLC4A1AP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for SLC4A1AP Gene

InterPro:
Blocks:
  • Forkhead-associated (FHA)
ProtoNet:

Suggested Antigen Peptide Sequences for SLC4A1AP Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 4 anion exchanger member 1 adapter protein (NADAP_HUMAN)
genes like me logo Genes that share domains with SLC4A1AP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SLC4A1AP Gene

Function for SLC4A1AP Gene

Phenotypes From GWAS Catalog for SLC4A1AP Gene

Gene Ontology (GO) - Molecular Function for SLC4A1AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003729 mRNA binding IBA 21873635
GO:0005515 protein binding IPI 17553790
genes like me logo Genes that share ontologies with SLC4A1AP: view

Phenotypes for SLC4A1AP Gene

genes like me logo Genes that share phenotypes with SLC4A1AP: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC4A1AP

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC4A1AP Gene

Localization for SLC4A1AP Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC4A1AP Gene

Nucleus. Cytoplasm. Note=Mainly nuclear. Small amounts are found in the cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC4A1AP gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytoskeleton 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC4A1AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with SLC4A1AP: view

Pathways & Interactions for SLC4A1AP Gene

PathCards logo

SuperPathways for SLC4A1AP Gene

No Data Available

Gene Ontology (GO) - Biological Process for SLC4A1AP Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SLC4A1AP Gene

Drugs & Compounds for SLC4A1AP Gene

No Compound Related Data Available

Transcripts for SLC4A1AP Gene

mRNA/cDNA for SLC4A1AP Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC4A1AP

Alternative Splicing Database (ASD) splice patterns (SP) for SLC4A1AP Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: -
SP2: - - -
SP3:
SP4:
SP5:
SP6: -

Relevant External Links for SLC4A1AP Gene

GeneLoc Exon Structure for
SLC4A1AP

Expression for SLC4A1AP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC4A1AP Gene

Protein differential expression in normal tissues from HIPED for SLC4A1AP Gene

This gene is overexpressed in Lung (29.3) and Peripheral blood mononuclear cells (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC4A1AP Gene



Protein tissue co-expression partners for SLC4A1AP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC4A1AP

SOURCE GeneReport for Unigene cluster for SLC4A1AP Gene:

Hs.306000

mRNA Expression by UniProt/SwissProt for SLC4A1AP Gene:

Q9BWU0-NADAP_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for SLC4A1AP Gene

  • Liver(4.2)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SLC4A1AP: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC4A1AP Gene

Orthologs for SLC4A1AP Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC4A1AP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC4A1AP 30 31
  • 99.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 31
  • 90 (a)
OneToMany
SLC4A1AP 30
  • 86.98 (n)
-- 31
  • 86 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia SLC4A1AP 30
  • 88.24 (n)
-- 31
  • 81 (a)
OneToMany
-- 31
  • 81 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Slc4a1ap 30
  • 82.61 (n)
Mouse
(Mus musculus)
Mammalia Slc4a1ap 30 17 31
  • 82.35 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC4A1AP 31
  • 75 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC4A1AP 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC4A1AP 30 31
  • 72.59 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC4A1AP 31
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc4a1ap 30
  • 65.99 (n)
Str.11601 30
Zebrafish
(Danio rerio)
Actinopterygii slc4a1ap 30 31
  • 62.3 (n)
OneToOne
Dr.11762 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7706 30 31 32
  • 49.3 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004588 30
  • 49.07 (n)
Worm
(Caenorhabditis elegans)
Secernentea ZK632.2 31 32
  • 29 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
Species where no ortholog for SLC4A1AP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC4A1AP Gene

ENSEMBL:
Gene Tree for SLC4A1AP (if available)
TreeFam:
Gene Tree for SLC4A1AP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC4A1AP: view image

Paralogs for SLC4A1AP Gene

Paralogs for SLC4A1AP Gene

Pseudogenes.org Pseudogenes for SLC4A1AP Gene

genes like me logo Genes that share paralogs with SLC4A1AP: view

Variants for SLC4A1AP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC4A1AP Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs9678851 - p.Pro139Thr
rs9679004 - p.Arg181Cys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC4A1AP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC4A1AP Gene

Variant ID Type Subtype PubMed ID
esv2660490 CNV deletion 23128226
esv3448213 CNV insertion 20981092
esv3590144 CNV loss 21293372
nsv1151664 CNV insertion 26484159

Variation tolerance for SLC4A1AP Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.90; 79.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC4A1AP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC4A1AP

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC4A1AP Gene

Disorders for SLC4A1AP Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC4A1AP Gene - From: COP and GCD

Disorder Aliases PubMed IDs
laminopathy
bare lymphocyte syndrome, type i
  • bls, type i
glycerol kinase deficiency
  • gkd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC4A1AP

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC4A1AP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC4A1AP Gene

Publications for SLC4A1AP Gene

  1. Human kanadaptin and kidney anion exchanger 1 (kAE1) do not interact in transfected HEK 293 cells. (PMID: 15764369) Kittanakom S … Reithmeier RA (Molecular membrane biology 2004) 3 4 23
  2. Kanadaptin is a protein that interacts with the kidney but not the erythroid form of band 3. (PMID: 9422766) Chen J … Al-Awqati Q (The Journal of biological chemistry 1998) 2 3 23
  3. A comprehensive genetic association study of Alzheimer disease in African Americans. (PMID: 22159054) Logue MW … Multi-Institutional Research on Alzheimer Genetic Epidemiology (MIRAGE) Study Group (Archives of neurology 2011) 3 41
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4

Products for SLC4A1AP Gene

Sources for SLC4A1AP Gene