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SLC4A1AP solute carrier family 4 member 1 adaptor protein [ Homo sapiens (human) ]

Gene ID: 22950, updated on 4-Jul-2021

Summary

Official Symbol
SLC4A1APprovided by HGNC
Official Full Name
solute carrier family 4 member 1 adaptor proteinprovided by HGNC
Primary source
HGNC:HGNC:13813
See related
Ensembl:ENSG00000163798 MIM:602655
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HLC3
Expression
Ubiquitous expression in testis (RPKM 21.2), brain (RPKM 14.7) and 25 other tissues See more
Orthologs
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Genomic context

See SLC4A1AP in Genome Data Viewer
Location:
2p23.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27663471..27694980)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27886338..27917847)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 512 Neighboring gene coiled-coil domain containing 121 Neighboring gene GPN-loop GTPase 1 Neighboring gene SPT7 like, STAGA complex subunit gamma Neighboring gene long intergenic non-protein coding RNA 1460 Neighboring gene uncharacterized LOC105374378

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

Associated conditions

Description Tests
A comprehensive genetic association study of Alzheimer disease in African Americans.
GeneReviews: Not available
Genetic variants associated with breast size also influence breast cancer risk.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10624, FLJ41004, MGC120646, MGC120648

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
kanadaptin
Names
HLC-3
human lung cancer oncogene 3 protein
kidney anion exchanger adapter protein
kidney anion exchanger adaptor protein
lung cancer oncogene 3
solute carrier family 4 (anion exchanger), member 1, adapter protein
solute carrier family 4 (anion exchanger), member 1, adaptor protein
solute carrier family 4 anion exchanger member 1 adapter protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_018158.3NP_060628.3  kanadaptin

    Status: VALIDATED

    Source sequence(s)
    AC074091
    Consensus CDS
    CCDS33166.1
    Related
    ENSP00000479964.1, ENST00000613058.4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    27663471..27694980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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