Gene

slc4a1a

ID

ZDB-GENE-010525-1

Name

solute carrier family 4 member 1a (Diego blood group)

Symbol

slc4a1a Nomenclature History

Previous Names

slc4a1
zAE1a (1)
AE1/band 3 (1)
band3 (1)
erythroid anion exchanger 1 (1)
ret
retsina
si:dz180g5.1
zgc:111889
zgc:152771

Type

protein_coding_gene

Location

Chr: 3 Mapping Details/Browsers

Description

Predicted to have inorganic anion exchanger activity. Involved in anion transport; embryonic hemopoiesis; and erythrocyte differentiation. Predicted to localize to integral component of membrane. Used to study cardiomyopathy. Human ortholog(s) of this gene implicated in congenital hemolytic anemia; hereditary spherocytosis; hereditary spherocytosis type 4; malaria; and renal tubular acidosis. Is expressed in several structures, including erythroid lineage cell; hematopoietic system; liver; mesoderm; and pleuroperitoneal region. Orthologous to human SLC4A1 (solute carrier family 4 member 1 (Diego blood group)).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

42 figures from 23 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7145604 (14 images)
IMAGE:7158110 (11 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 14 figures from 5 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With slc4a1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
hereditary spherocytosis type 4	Alliance	Spherocytosis, type 4	612653
		Cryohydrocytosis	185020
		Distal renal tubular acidosis 1	179800
		Distal renal tubular acidosis 4 with hemolytic anemia	611590
		Ovalocytosis, SA type	166900
		[Blood group, Diego]	110500
		[Blood group, Froese]	601551
		[Blood group, Swann]	601550
		[Blood group, Waldner]	112010
		[Blood group, Wright]	112050
		{Malaria, resistance to}	611162

Associated With slc4a1a Via Experimental Models

Human Disease	Fish	Conditions	Citations
cardiomyopathy	slc4a1a^tr265/tr265	standard conditions	Ding et al., 2016

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR018241	Anion exchange, conserved site
Domain	IPR011531	Bicarbonate transporter-like, transmembrane domain
Domain	IPR013769	Band 3 cytoplasmic domain
Family	IPR001717	Anion exchange protein
Family	IPR003020	Bicarbonate transporter, eukaryotic
Homologous_superfamily	IPR016152	Phosphotransferase/anion transporter

Domain Details Per Protein

Protein	Length	Anion exchange, conserved site	Anion exchange protein	Band 3 cytoplasmic domain	Bicarbonate transporter, eukaryotic	Bicarbonate transporter-like, transmembrane domain	Phosphotransferase/anion transporter
UniProtKB:Q7ZZJ7 InterPro	905

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	ottdart00000001986 (1)	Havana	3,500 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	slc4a1a-201 (1) Ensembl	Ensembl	2,859 nt	Select Tool ZFIN BLAST
mRNA	slc4a1a-202 (1) Ensembl	Ensembl	3,463 nt	Select Tool ZFIN BLAST
mRNA	slc4a1a-203 (1) Ensembl	Ensembl	3,554 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab2-slc4a1	polyclonal	slc4a1a		Rabbit			1
Ab1-slc4a1	polyclonal	slc4a1a		Rabbit			1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations