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

40 figures from 22 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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	3500 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	slc4a1a-203 (1) Ensembl	Havana	3554 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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