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

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, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 21.2), brain (RPKM 14.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (27663889..27694969)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (27706977..27738031)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (27886756..27917836)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural insights into the recognition of phosphopeptide by the FHA domain of kanadaptin
Title: Structural insights into the recognition of phosphopeptide by the FHA domain of kanadaptin.
human kanadaptin did not interact with kidney anion exchanger 1 (kAE1) and had no effect on trafficking of kAE1 to the plasma membrane
Title: Human kanadaptin and kidney anion exchanger 1 (kAE1) do not interact in transfected HEK 293 cells.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D10S2448 (e-PCR)
- UniSTS:474444

D22S532 (e-PCR), detects polymorphism
- UniSTS:14687

D7S3207 (e-PCR)
- UniSTS:229489

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-67307 (e-PCR)
- UniSTS:89991

D13S1553 (e-PCR)
- UniSTS:473482

STS-N26833 (e-PCR)
- UniSTS:8420

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
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

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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)

NM_018158.3 → NP_060628.3 kanadaptin

Status: VALIDATED

Source sequence(s)

AC074091

Consensus CDS

CCDS33166.2

UniProtKB/Swiss-Prot

A0A087X0M4, A6NJ39, Q4KMT1, Q4KMX0, Q7Z5Q9, Q9BWU0, Q9NVN2

UniProtKB/TrEMBL

A0A8Q3WLG9

Related

ENSP00000323837.7, ENST00000326019.11

Conserved Domains (4) summary

PLN02939
Location:423 → 536

PLN02939; transferase, transferring glycosyl groups

PHA03247
Location:9 → 112

PHA03247; large tegument protein UL36; Provisional

cd00060
Location:113 → 221

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:309 → 391

DSRM_Kanadaptin; double-stranded RNA binding motif of Kanadaptin and similar proteins