Slc35a1 MGI Mouse Gene Detail - MGI:1345622 - solute carrier family 35 (CMP-sialic acid transporter), member 1

Symbol

Slc35a1
Name

solute carrier family 35 (CMP-sialic acid transporter), member 1

Feature Type

protein coding gene
IDs

MGI:1345622
NCBI Gene: 24060
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr4:34663257-34687438 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 16.86 cM
Mapping Data

2 experiments

SNPs within 2kb

767 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1345622	protein coding gene	Chr4:34663257-34688113 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0028129	protein coding gene	Chr4:32248557-32273685 (-)
A/J	MGP_AJ_G0028087	protein coding gene	Chr4:31079884-31109297 (-)
AKR/J	MGP_AKRJ_G0028050	protein coding gene	Chr4:31890827-31922418 (-)
BALB/cJ	MGP_BALBcJ_G0028098	protein coding gene	Chr4:31357155-31381339 (-)
C3H/HeJ	MGP_C3HHeJ_G0027827	protein coding gene	Chr4:32207764-32232549 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0028540	protein coding gene	Chr4:33478412-33503925 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025881	protein coding gene	Chr4:29192371-29216631 (-)
CAST/EiJ	MGP_CASTEiJ_G0027282	protein coding gene	Chr4:32001117-32026596 (-)
CBA/J	MGP_CBAJ_G0027799	protein coding gene	Chr4:34566146-34594804 (-)
DBA/2J	MGP_DBA2J_G0027943	protein coding gene	Chr4:31060184-31084298 (-)
FVB/NJ	MGP_FVBNJ_G0027909	protein coding gene	Chr4:30477297-30502636 (-)
LP/J	MGP_LPJ_G0028051	protein coding gene	Chr4:32338223-32363090 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027942	protein coding gene	Chr4:37162155-37187734 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028599	protein coding gene	Chr4:31919203-31943112 (-)
PWK/PhJ	MGP_PWKPhJ_G0027001	protein coding gene	Chr4:31072196-31096439 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026830	protein coding gene	Chr4:31773049-31797268 (-)
WSB/EiJ	MGP_WSBEiJ_G0027358	protein coding gene	Chr4:31916779-31941844 (-)

Human Ortholog

SLC35A1, solute carrier family 35 member A1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SLC35A1, solute carrier family 35 member A1
Synonyms

CDG2F, CMPST, CST, hCST
Links

HGNC:11021

NCBI Gene ID: 10559

neXtProt AC: NX_P78382

UniProt: P78382
Chr Location

6q15; chr6:87470623-87512336 (+) GRCh38

MGI Vertebrate Homology

Slc35a1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SLC35A1
Protein SuperFamily

UDP-gal_transpt
Gene Tree

Slc35a1

Diseases

1 with human SLC35A1 associations

				Human Disease	Mouse Models
				congenital disorder of glycosylation type IIf IDs congenital disorder of glycosylation type IIf DOID:0070258 MESH:C567040 OMIM:603585 ORDO:238459 UMLS_CUI:C1970344

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
6 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

6
Chemically and radiation induced

1
Endonuclease-mediated

2
Gene trapped

3
Genomic Mutations

1 involving Slc35a1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

20 strains or lines available

Homozygous mutation of this gene results in lethality before weaning.

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All GO Annotations

12
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

721
Tissues

13
cDNA Data

65
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase slc35a1

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All Sequences

54
RefSeq

15
UniProt

2
CCDS

CCDS18030.1

Ensembl

ENSMUSG00000028293 (Evidence)
NCBI Gene

24060

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028293	Ensembl Gene Model \| MGI Sequence Detail	24182	C57BL/6J	± kb
transcript	ENSMUST00000029970	Ensembl \| MGI Sequence Detail	2039	Not Applicable
polypeptide	ENSMUSP00000029970	Ensembl \| MGI Sequence Detail	336	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000015089 CMP-sialic acid transporter

(term hierarchy)
PDB

6OH2, 6OH3, 6OH4, 6XBO
InterPro Domains

IPR007271 Nucleotide-sugar transporter

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All nucleic 68

cDNA 65

Primer pair 2

Other 1

Microarray probesets 4

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MGI:2140125, MGI:2140225

Summaries

All 37

Developmental Gene Expression 3

Gene Ontology 8

Phenotypes 6
Earliest

J:57553 Eckhardt M, et al., Expression cloning of the Golgi CMP-sialic acid transporter. Proc Natl Acad Sci U S A. 1996 Jul 23;93(15):7572-6
Latest

J:348084 Zuo B, et al., Endothelial Slc35a1 Deficiency Causes Loss of LSEC Identity and Exacerbates Neonatal Lipid Deposition in the Liver in Mice. Cell Mol Gastroenterol Hepatol. 2024 Mar 11;17(6):1039-1061

TSS for Slc35a1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr41197	Chr4:34687457-34687464 (-)	-23 bp
Tssr41196	Chr4:34687382-34687452 (-)	21 bp
Tssr41195	Chr4:34687347-34687375 (-)	77 bp
Tssr41194	Chr4:34687312-34687342 (-)	111 bp
Tssr41193	Chr4:34687262-34687309 (-)	152 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24