SLC35B1

protein-coding

solute carrier family 35 member B1, the group of Solute carrier family 35

Gene summary

This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

MANE transcript

NM_005827.4

Inheritance

—

ClinVar variants

U:41B:2

Top phenotype

SLC35B1-related disorder

gnomAD constraint

pLI —, LoF o/e 0.6

Max pathogenic AF

—

Genomic locus

chr17:49,700,934-49,709,014

External References & Databases

Ensembl (ENSG00000121073)

Transcript & Mutation Effects

hg38 • Region Span ~8.1 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC35B1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 39

SLC35B1-related disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005827.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	1 clinvar		3
missense			39 clinvar	1 clinvar		40
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	2	0	43

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 51 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_005827.4	RefSeq	NP_005818.3	9	MANE Select
ENST00000240333.12	Ensembl	ENSP00000240333.8	9	MANE Select
NM_001278784.2	RefSeq	NP_001265713.1	8	Standard
ENST00000502268.5	Ensembl	ENSP00000424857.2	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

carbohydrate transport
UDP-galactose transmembrane transport

Molecular Function

UDP-galactose transmembrane transporter activity
UDP-glucose transmembrane transporter activity
transmembrane transporter activity

Cellular Component

integral component of Golgi membrane
integral component of endoplasmic reticulum membrane
intracellular membrane-bounded organelle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000240333
Coding exons: 9
Length: 8072
Individuals with no LoFs: 125731
Homozygous LoFs: 0
Heterozygous LoFs: 17
Defined: 125748
p: 0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.790	143	172	0.831	0.00000826	2071
Missense (PolyPhen)		42	66.806	0.62868		796
Synonymous	0.260	68	70.8	0.961	0.00000358	656
Loss of Function	1.51	10	16.6	0.601	7.68e-7	201

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.000089	0.000087	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.000054	0.000054	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000035	0.000035	rare
South Asian	0.00016	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable sugar transporter. {ECO:0000250}.;

Recessive Scores

pRec: 0.0741

Intolerance Scores

LoFtool: 0.536
RVIS EVS: -0.16
RVIS percentile EVS: 41.91

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.623

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium