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2.A.7.15.4
The UDP glucuronate/UDP-N-acetylgalactosamine transporter, Slc35D1; responsible for Schneckenbecken dysplasia in humans (Hiraoka et al., 2007). Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications including skeletal involvement and reduced bone mineral density (Lipiński et al. 2021).

Accession Number:Q9NTN3
Protein Name:Slc35D1
Length:355
Molecular Weight:39240.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:10
Location1 / Topology2 / Orientation3: Endoplasmic reticulum membrane1 / Multi-pass membrane protein2
Substrate UDP-alpha-D-glucuronic acid, UDP-N-acetyl-alpha-D-galactosamine 4-sulfate

Cross database links:

RefSeq: NP_055954.1   
Entrez Gene ID: 23169   
Pfam: PF03151   
OMIM: 269250  phenotype
610804  gene
KEGG: hsa:23169    hsa:23169   

Gene Ontology

GO:0030176 C:integral to endoplasmic reticulum membrane
GO:0005461 F:UDP-glucuronic acid transmembrane transport...
GO:0005463 F:UDP-N-acetylgalactosamine transmembrane tra...
GO:0030206 P:chondroitin sulfate biosynthetic process
GO:0006065 P:UDP-glucuronate biosynthetic process
GO:0015789 P:UDP-N-acetylgalactosamine transport
GO:0005461 F:UDP-glucuronic acid transmembrane transporter activity
GO:0005463 F:UDP-N-acetylgalactosamine transmembrane transporter activity
GO:0006805 P:xenobiotic metabolic process

References (12)

[1] “Molecular characterization of human UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity.”  Muraoka M.et.al.   11322953
[2] “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.”  Nagase T.et.al.   9039502
[3] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[4] “The DNA sequence and biological annotation of human chromosome 1.”  Gregory S.G.et.al.   16710414
[5] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[6] “Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.”  Hiraoka S.et.al.   17952091
[7] “Molecular characterization of human UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity.”  Muraoka M.et.al.   11322953
[8] “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.”  Nagase T.et.al.   9039502
[9] “Complete sequencing and characterization of 21,243 full-length human cDNAs.”  Ota T.et.al.   14702039
[10] “The DNA sequence and biological annotation of human chromosome 1.”  Gregory S.G.et.al.   16710414
[11] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[12] “Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.”  Hiraoka S.et.al.   17952091

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Predict TMSs (Predict number of transmembrane segments)
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FASTA formatted sequence 
1:	MAEVHRRQHA RVKGEAPAKS STLRDEEELG MASAETLTVF LKLLAAGFYG VSSFLIVVVN 
61:	KSVLTNYRFP SSLCVGLGQM VATVAVLWVG KALRVVKFPD LDRNVPRKTF PLPLLYFGNQ 
121:	ITGLFSTKKL NLPMFTVLRR FSILFTMFAE GVLLKKTFSW GIKMTVFAMI IGAFVAASSD 
181:	LAFDLEGYAF ILINDVLTAA NGAYVKQKLD SKELGKYGLL YYNALFMILP TLAIAYFTGD 
241:	AQKAVEFEGW ADTLFLLQFT LSCVMGFILM YATVLCTQYN SALTTTIVGC IKNILITYIG 
301:	MVFGGDYIFT WTNFIGLNIS IAGSLVYSYI TFTEEQLSKQ SEANNKLDIK GKGAV