1. Gene
  2. SLC35A1 - solute carrier family 35 member A1 Gene

SLC35A1 - solute carrier family 35 member A1 Gene

中文名称:溶质载体家族 35 成员 A1

种属: Homo sapiens

同用名: CST; hCST; CDG2F; CMPST

基因 ID: 10559 | 基因类型: protein coding

关于 SLC35A1

Cytogenetic location: 6q15 Genomic coordinates (GRCh38): 6:87,472,974-87,512,336 (from NCBI)

This gene has 4 transcripts (splice variants), 200 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 23.8), lung (RPKM 21.7) and 25 other tissues.

功能概要

由该基因编码的蛋白质存在于高尔基体的膜中,它将核苷酸糖转运到高尔基体中。一种这样的核苷酸糖是 CMP-唾液酸,它通过编码的蛋白质输入到高尔基体中,随后被糖基化。该基因的缺陷是 2F 型糖基化 (CDG2F) 先天性疾病的一个原因。已发现该基因编码不同亚型的两个转录变体。[RefSeq 提供,2009 年 12 月]

The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]

SLC35A1 基因产物(2)

mRNA Protein Name
NM_001168398.2 NP_001161870.1 CMP-sialic acid transporter isoform b
NM_006416.5 NP_006407.1 CMP-sialic acid transporter isoform a
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in CMP-N-acetylneuraminate transmembrane transport IDA
IDA: 通过直接分析推断
15576474 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SLC35A1 蛋白结构

Nuc_sug_transp

Nuc_sug_transp: Nucleotide-sugar transporter (73 - 306)

  • 0
  • 100
  • 200
  • 300
  • 337 a.a.
蛋白主名 其他名称

CMP-sialic acid transporter

CMP-SA-Tr

SLC35A1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SLC35A1 P78382 SDC3 Homo sapiens A0A0S2Z4U3 32296183
种属内
SLC35A1 P78382 SDC3 Homo sapiens A0A0S2Z4U3 32296183
种属内
SLC35A1 P78382 RELL2 Homo sapiens Q8NC24 32296183
种属内
SLC35A1 P78382 RELL2 Homo sapiens Q8NC24 32296183
种属内
SLC35A1 P78382 RELL2 Homo sapiens Q8NC24 32296183
种属内
SLC35A1 P78382 PIK3IP1 Homo sapiens Q96FE7 32296183
种属内
SLC35A1 P78382 PIK3IP1 Homo sapiens Q96FE7 32296183
种属内
SLC35A1 P78382 PIK3IP1 Homo sapiens Q96FE7 32296183
种属内
SLC35A1 P78382 PLPP4 Homo sapiens Q5VZY2 32296183
种属内
SLC35A1 P78382 PLPP4 Homo sapiens Q5VZY2 32296183
种属内
SLC35A1 P78382 PLPP4 Homo sapiens Q5VZY2 32296183
种属内
SLC35A1 P78382 ARL13B Homo sapiens Q3SXY8 32296183
种属内
SLC35A1 P78382 ARL13B Homo sapiens Q3SXY8 32296183
种属内
SLC35A1 P78382 ARL13B Homo sapiens Q3SXY8 32296183
种属内
SLC35A1 P78382 GPX8 Homo sapiens Q8TED1 32296183
种属内
SLC35A1 P78382 GPX8 Homo sapiens Q8TED1 32296183
种属内
SLC35A1 P78382 GPX8 Homo sapiens Q8TED1 32296183
种属内
SLC35A1 P78382 FNDC9 Homo sapiens Q8TBE3 32296183
种属内
SLC35A1 P78382 FNDC9 Homo sapiens Q8TBE3 32296183
种属内
SLC35A1 P78382 FNDC9 Homo sapiens Q8TBE3 32296183
种属内
SLC35A1 P78382 FXYD3 Homo sapiens Q14802-3 32296183
种属内
SLC35A1 P78382 FXYD3 Homo sapiens Q14802-3 32296183
种属内
SLC35A1 P78382 FXYD3 Homo sapiens Q14802-3 32296183
种属内
SLC35A1 P78382 ASZ1 Homo sapiens Q8WWH4 32296183
种属内
SLC35A1 P78382 ASZ1 Homo sapiens Q8WWH4 32296183
种属内
SLC35A1 P78382 ASZ1 Homo sapiens Q8WWH4 32296183
种属内
SLC35A1 P78382 TMPRSS2 Homo sapiens O15393-2 32296183
种属内
SLC35A1 P78382 TMPRSS2 Homo sapiens O15393-2 32296183
种属内
SLC35A1 P78382 ASGR2 Homo sapiens P07307-3 32296183
种属内
SLC35A1 P78382 ASGR2 Homo sapiens P07307-3 32296183
种属内
SLC35A1 P78382 SLC34A2 Homo sapiens O95436-2 32296183
种属内
SLC35A1 P78382 SLC34A2 Homo sapiens O95436-2 32296183
种属内
SLC35A1 P78382 AQP6 Homo sapiens Q13520 32296183
种属内
SLC35A1 P78382 AQP6 Homo sapiens Q13520 32296183
种属内
SLC35A1 P78382 AQP6 Homo sapiens Q13520 32296183
种属内
SLC35A1 P78382 KIR3DL3 Homo sapiens Q8N743 32296183
种属内
SLC35A1 P78382 KIR3DL3 Homo sapiens Q8N743 32296183
种属内
SLC35A1 P78382 KIR3DL3 Homo sapiens Q8N743 32296183
种属内
SLC35A1 P78382 SSMEM1 Homo sapiens Q8WWF3 32296183
种属内
SLC35A1 P78382 SSMEM1 Homo sapiens Q8WWF3 32296183
种属内
SLC35A1 P78382 SSMEM1 Homo sapiens Q8WWF3 32296183
种属内
SLC35A1 P78382 CPLX4 Homo sapiens Q7Z7G2 32296183
种属内
SLC35A1 P78382 CPLX4 Homo sapiens Q7Z7G2 32296183
种属内
SLC35A1 P78382 CPLX4 Homo sapiens Q7Z7G2 32296183
种属内
SLC35A1 P78382 FAM209A Homo sapiens Q5JX71 32296183
种属内
SLC35A1 P78382 FAM209A Homo sapiens Q5JX71 32296183
种属内
SLC35A1 P78382 FAM209A Homo sapiens Q5JX71 32296183
种属内
SLC35A1 P78382 CERS4 Homo sapiens Q9HA82 32296183
种属内
SLC35A1 P78382 CERS4 Homo sapiens Q9HA82 32296183
种属内
SLC35A1 P78382 MCFD2 Homo sapiens Q8NI22 32296183
种属内
SLC35A1 P78382 MCFD2 Homo sapiens Q8NI22 32296183
种属内
SLC35A1 P78382 MCFD2 Homo sapiens Q8NI22 32296183
种属内
SLC35A1 P78382 LHFPL5 Homo sapiens Q8TAF8 32296183
种属内
SLC35A1 P78382 LHFPL5 Homo sapiens Q8TAF8 32296183
种属内
SLC35A1 P78382 LHFPL5 Homo sapiens Q8TAF8 32296183
种属内
SLC35A1 P78382 SAR1A Homo sapiens Q9NR31 32296183
种属内
SLC35A1 P78382 SAR1A Homo sapiens Q9NR31 32296183
种属内
SLC35A1 P78382 SAR1A Homo sapiens Q9NR31 32296183
种属内
SLC35A1 P78382 TCTA Homo sapiens P57738 32296183
种属内
SLC35A1 P78382 TCTA Homo sapiens P57738 32296183
种属内
SLC35A1 P78382 TMX2 Homo sapiens Q9Y320 32296183
种属内
SLC35A1 P78382 TMX2 Homo sapiens Q9Y320 32296183
种属内
SLC35A1 P78382 TMX2 Homo sapiens Q9Y320 32296183
种属内
SLC35A1 P78382 CD53 Homo sapiens P19397 32296183
种属内
SLC35A1 P78382 CD53 Homo sapiens P19397 32296183
种属内
SLC35A1 P78382 TMEM139 Homo sapiens Q8IV31 32296183
种属内
SLC35A1 P78382 TMEM139 Homo sapiens Q8IV31 32296183
种属内
SLC35A1 P78382 TMEM139 Homo sapiens Q8IV31 32296183
种属内
SLC35A1 P78382 MGST3 Homo sapiens O14880 32296183
种属内
SLC35A1 P78382 MGST3 Homo sapiens O14880 32296183
种属内
SLC35A1 P78382 F11R Homo sapiens Q9Y624 32296183
种属内
SLC35A1 P78382 F11R Homo sapiens Q9Y624 32296183
种属内
SLC35A1 P78382 F11R Homo sapiens Q9Y624 32296183
种属内
SLC35A1 P78382 SLC1A1 Homo sapiens P43005 32296183
种属内
SLC35A1 P78382 SLC1A1 Homo sapiens P43005 32296183
种属内
SLC35A1 P78382 BCL2L13 Homo sapiens Q9BXK5 32296183
种属内
SLC35A1 P78382 BCL2L13 Homo sapiens Q9BXK5 32296183
种属内
SLC35A1 P78382 BCL2L13 Homo sapiens Q9BXK5 32296183
种属内
SLC35A1 P78382 MRPS18B Homo sapiens Q9Y676 32296183
种属内
SLC35A1 P78382 MRPS18B Homo sapiens Q9Y676 32296183
种属内
SLC35A1 P78382 MRPS18B Homo sapiens Q9Y676 32296183
种属内
SLC35A1 P78382 ERGIC3 Homo sapiens Q9Y282 32296183
种属内
SLC35A1 P78382 ERGIC3 Homo sapiens Q9Y282 32296183
种属内
SLC35A1 P78382 ERGIC3 Homo sapiens Q9Y282 32296183
种属内
SLC35A1 P78382 SYT2 Homo sapiens Q8N9I0 32296183
种属内
SLC35A1 P78382 SYT2 Homo sapiens Q8N9I0 32296183
种属内
SLC35A1 P78382 SYT2 Homo sapiens Q8N9I0 32296183
种属内
SLC35A1 P78382 EBAG9 Homo sapiens O00559 32296183
种属内
SLC35A1 P78382 EBAG9 Homo sapiens O00559 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Congenital Disorder Of Glycosylation, Type Iif

CDG2F

Congenital Disorder Of Glycosylation Type Iif

Cdg Iif

Cdgiif

Carbohydrate Deficient Glycoprotein Syndrome Type Iif

Cmp-Sialic Acid Transporter Deficiency

Slc35a1-Cdg

Cdg-Iif

Cdgiidf

Cdg Syndrome Type Iif

Congenital Disorder Of Glycosylation Type 2f

Congenital Disorder Of Glycosylation 2f

Glycosylation, Congenital Disorder Of, Type Iif

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii

CDG2E

Congenital Disorder Of Glycosylation Type Iie

IMD47

Cdg2s

Cdg Iis

Cdgiis

Immunodeficiency And Hepatopathy With Or Without Neurologic Features

Congenital Disorder Of Glycosylation, Type Ii

CDG1I

Congenital Disorder Of Glycosylation, Type Iie

Cdg Iie

Congenital Disorder Of Glycosylation Type 2e

Congenital Disorder Of Glycosylation, Type Iis

Cdg Ii

Cdgii

Cdgiie

Carbohydrate Deficient Glycoprotein Syndrome Type Iie

Cdg Syndrome Type Iie

Congenital Disorder Of Glycosylation Ii

Congenital Disorder Of Glycosylation 1i

Cdg-Iie

Alg2-Cdg

Cdg-Ii

Glycosylation, Congenital Disorder Of, Type Ii

Cdgiide

Congenital Disorder Of Glycosylation Type Iis

Cog7-Cdg

Cdg Syndrome Type Ii

Carbohydrate Deficient Glycoprotein Syndrome Type Ii

Congenital Disorder Of Glycosylation Type 1i

Mannosyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2e

Congenital Disorder Of Glycosylation 2s

Congenital Disorders Of Glycosylation Type Ii

Glycosylation, Congenital Disorder Of, Type Iie

Immunodeficiency, Type 47

Congenital Disorder Of Glycosylation Type 2a

Sialuria

Sialuria, French Type

French Type Sialuria

Sialuria French Type

Sialic Acid Storage Disease

Sialic Acid Storage Disease, Finnish Type

Infantile Sialic Acid Storage Disease

Developmental And Epileptic Encephalopathy 36

Congenital Disorder Of Glycosylation Type I

Epileptic Encephalopathy, Early Infantile, 36

Congenital Disorder Of Glycosylation, Type Is

Cdg1s

Congenital Disorder Of Glycosylation, Type Ie

CDG1E

Congenital Disorder Of Glycosylation Type 1e

DEE36

Eiee36

Cdg Is

Cdgis

Congenital Disorder Of Glycosylation Ie

Congenital Disorder Of Glycosylation 1e

Cdg-Is

Congenital Disorder Of Glycosylation Type Is

Developmental And Epileptic Encephalopathy, 36

Cdg Ie

Cdgie

Early Infantile Epileptic Encephalopathy 36

Alg13-Cdg

Cdg Syndrome Type Is

Congenital Disorder Of Glycosylation Type 1s

Dpm1-Cdg

Cdg Syndrome Type Ie

Cdg-Ie

Carbohydrate Deficient Glycoprotein Syndrome Type Ie

Congenital Disorder Of Glycosylation Type Ie

Dol-P-Mannosyltransferase Deficiency

Congenital Disorder Of Glycosylation 1s

Glycosylation, Congenital Disorder Of, Type I

Glycosylation, Congenital Disorder Of, Type Ie

Congenital Disorder Of Glycosylation Type 1a

Congenital Disorder Of Glycosylation, Type Iu

Congenital Disorder Of Glycosylation, Type Iid

CDG2D

Congenital Disorder Of Glycosylation Type Iid

Cdg Iid

Cdgiid

B4galt1-Cdg

Cdg-Iid

Congenital Disorder Of Glycosylation Type 2d

Beta-1,4-Galactosyltransferase Deficiency

Cdg Syndrome Type Iid

Carbohydrate Deficient Glycoprotein Syndrome Type Iid

Congenital Disorder Of Glycosylation 2d

Glycosylation, Congenital Disorder Of, Type Iid

Congenital Disorder Of Glycosylation, Type Iiid

Congenital Disorder Of Glycosylation, Type Iib

CDG2B

CDGIIB

Glucosidase I Deficiency

Congenital Disorder Of Glycosylation Type Iib

Cdg Iib

Mogs-Cdg

Cdg Syndrome Type Iib

Cdg-Iib

Carbohydrate Deficient Glycoprotein Syndrome Type Iib

Congenital Disorder Of Glycosylation Type 2b

Glucosidase 1 Deficiency

Type Iib Congenital Disorder Of Glycosylation

Glycosylation, Congenital Disorder Of, Type Iib

Congenital Disorder Of Glycosylation, Type Iia

CDG2A

Congenital Disorder Of Glycosylation Type Iia

Cdg Iia

Cdgiia

Congenital Disorder Of Glycosylation Type 2a

Alkuraya Syndrome

Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii

Mgat2-Cdg

Cdg-Iia

Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly

Cdgs2, Formerly

Cdgs2

Cdg Syndrome Type Iia

Carbohydrate Deficient Glycoprotein Syndrome Type Iia

N-Acetylglucosaminyltransferase 2 Deficiency

Congenital Disorder Of Glycosylation 2a

Carbohydrate-Deficient Glycoprotein Syndrome Type Ii

Cdgs Type Ii

Carbohydrate-Deficient Glycoprotein Syndrome Type 2

Glycosylation, Congenital Disorder Of, Type Iia

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

Schneckenbecken Dysplasia

SHNKND

Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis

Chondrodysplasia Lethal Neonatal With Snail Like Pelvis

Chondrodysplasia With Snail-Like Pelvis

Slc35d1-Cdg

Dysplasia, Schneckenbecken

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Felis catus SLC35A1 VGNC VGNC:65319
Canis familiaris SLC35A1 VGNC VGNC:46360
Rattus norvegicus SLC35A1 RGD RGD:1311359
Macaca mulatta SLC35A1 VGNC VGNC:83468
Mus musculus SLC35A1 MGD MGI:1345622
Bos taurus SLC35A1 VGNC VGNC:34819
Others SLC35A1 NCBI