SLC35D1 | ENSG00000116704 | NCBI 23169

Details for: SLC35D1

Gene ID: 23169

Symbol: SLC35D1

Ensembl ID: ENSG00000116704

Description: solute carrier family 35 member D1

Associated with

Biological oxidations
(R-HSA-211859)
Defective slc35d1 causes schbckd
(R-HSA-5579020)
Disease
(R-HSA-1643685)
Diseases of metabolism
(R-HSA-5668914)
Formation of the active cofactor, udp-glucuronate
(R-HSA-173599)
Glucuronidation
(R-HSA-156588)
Metabolic disorders of biological oxidation enzymes
(R-HSA-5579029)
Metabolism
(R-HSA-1430728)
Phase ii - conjugation of compounds
(R-HSA-156580)
Slc-mediated transmembrane transport
(R-HSA-425407)
Transport of nucleotide sugars
(R-HSA-727802)
Transport of small molecules
(R-HSA-382551)
Transport of vitamins, nucleosides, and related molecules
(R-HSA-425397)
Antiporter activity
(GO:0015297)
Carbohydrate transport
(GO:0008643)
Endoplasmic reticulum membrane
(GO:0005789)
Gdp-fucose transmembrane transport
(GO:0015783)
Gdp-fucose transmembrane transporter activity
(GO:0005457)
Golgi apparatus
(GO:0005794)
Pyrimidine nucleotide-sugar transmembrane transport
(GO:0090481)
Udp-glucuronic acid transmembrane transport
(GO:0015787)
Udp-glucuronic acid transmembrane transporter activity
(GO:0005461)
Udp-n-acetylgalactosamine transmembrane transport
(GO:0015789)
Udp-n-acetylgalactosamine transmembrane transporter activity
(GO:0005463)
Udp-n-acetylglucosamine transmembrane transport
(GO:1990569)
Udp-n-acetylglucosamine transmembrane transporter activity
(GO:0005462)

Other Information

Proteins

Solute carrier family 35 member D1

Genular Protein ID: 1003909398

Symbol: S35D1_HUMAN

Name: Solute carrier family 35 member D1

UniProtKB Accession Codes:

Q9NTN3 A8K185 B7Z3X2 Q52LU5 Q92548

Database IDs:

Citations:

PubMed ID: 11322953

Title: Molecular characterization of human UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity.

PubMed ID: 11322953

DOI: 10.1016/s0014-5793(01)02358-4

PubMed ID: 9039502

Title: Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.

PubMed ID: 9039502

DOI: 10.1093/dnares/3.5.321

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16965264

Title: Molecular and functional characterization of microsomal UDP-glucuronic acid uptake by members of the nucleotide sugar transporter (NST) family.

PubMed ID: 16965264

DOI: 10.1042/bj20060429

PubMed ID: 17599910

Title: Variety of nucleotide sugar transporters with respect to the interaction with nucleoside mono- and diphosphates.

PubMed ID: 17599910

DOI: 10.1074/jbc.m611358200

PubMed ID: 31423530

Title: A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

PubMed ID: 31423530

DOI: 10.1093/hmg/ddz200

PubMed ID: 17952091

Title: Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.

PubMed ID: 17952091

DOI: 10.1038/nm1655

Sequence Information:

Length: 355
Mass: 39240
Checksum: CAFF15D49605CA27
Sequence:

MAEVHRRQHA RVKGEAPAKS STLRDEEELG MASAETLTVF LKLLAAGFYG VSSFLIVVVN 
KSVLTNYRFP SSLCVGLGQM VATVAVLWVG KALRVVKFPD LDRNVPRKTF PLPLLYFGNQ 
ITGLFSTKKL NLPMFTVLRR FSILFTMFAE GVLLKKTFSW GIKMTVFAMI IGAFVAASSD 
LAFDLEGYAF ILINDVLTAA NGAYVKQKLD SKELGKYGLL YYNALFMILP TLAIAYFTGD 
AQKAVEFEGW ADTLFLLQFT LSCVMGFILM YATVLCTQYN SALTTTIVGC IKNILITYIG 
MVFGGDYIFT WTNFIGLNIS IAGSLVYSYI TFTEEQLSKQ SEANNKLDIK GKGAV

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: SLC35D1

Associated with

Other Information

Molecular characterization of human UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity. PubMed ID: 11322953

Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. PubMed ID: 9039502

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Molecular and functional characterization of microsomal UDP-glucuronic acid uptake by members of the nucleotide sugar transporter (NST) family. PubMed ID: 16965264

Variety of nucleotide sugar transporters with respect to the interaction with nucleoside mono- and diphosphates. PubMed ID: 17599910

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. PubMed ID: 31423530

Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. PubMed ID: 17952091