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

Gene ID: 22950, updated on 1-Jun-2020

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

Genomic context

See SLC4A1AP in Genome Data Viewer
Location:
2p23.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27663471..27694980)
105 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

NHGRI GWAS Catalog

Description
A comprehensive genetic association study of Alzheimer disease in African Americans.
NHGRI GWA Catalog
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog

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

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_018158.2NP_060628.2  kanadaptin

    See identical proteins and their annotated locations for NP_060628.2

    Status: VALIDATED

    Source sequence(s)
    AK001486, BC099711, BG220419
    Consensus CDS
    CCDS33166.1
    UniProtKB/Swiss-Prot
    Q9BWU0
    Related
    ENSP00000479964.1, ENST00000613058.4
    Conserved Domains (3) summary
    COG1716
    Location:164299
    FHA; Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]
    cd00060
    Location:167275
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    pfam00035
    Location:370438
    dsrm; Double-stranded RNA binding motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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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