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

Gene ID: 22950, updated on 6-Sep-2022

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; AllianceGenome:HGNC:13813
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
Summary
Predicted to enable mRNA binding activity. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27663889..27694969)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27706977..27738031)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27886756..27917836)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene GPN-loop GTPase 1 Neighboring gene small nucleolar RNA SNORA36 family 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

EBI GWAS Catalog

Description
A comprehensive genetic association study of Alzheimer disease in African Americans.
EBI GWAS Catalog
Genetic variants associated with breast size also influence breast cancer risk.
EBI GWAS 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
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
    UniProtKB/TrEMBL
    A0A087X0M4
    Related
    ENSP00000323837.7, ENST00000326019.11
    Conserved Domains (4) summary
    PLN02939
    Location:423536
    PLN02939; transferase, transferring glycosyl groups
    PHA03247
    Location:9112
    PHA03247; large tegument protein UL36; Provisional
    cd00060
    Location:113221
    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 ...
    cd19856
    Location:309391
    DSRM_Kanadaptin; double-stranded RNA binding motif of Kanadaptin and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    27663889..27694969
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    27706977..27738031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)