1. Gene
  2. SLCO1C1 - solute carrier organic anion transporter family member 1C1 Gene

SLCO1C1 - solute carrier organic anion transporter family member 1C1 Gene

中文名称:溶质载体有机阴离子转运家族成员 1C1

种属: Homo sapiens

同用名: OATP1; OATPF; OATP-F; OATP14; OATP1C1; OATPRP5; SLC21A14

基因 ID: 53919 | 基因类型: protein coding

关于 SLCO1C1

Cytogenetic location: 12p12.2 Genomic coordinates (GRCh38): 12:20,695,332-20,753,386 (from NCBI)

This gene has 9 transcripts (splice variants), 256 orthologues and 10 paralogues. Biased expression in brain (RPKM 4.0), fat (RPKM 0.5) and 3 other tissues.

功能概要

该基因编码有机阴离子转运蛋白家族的成员。编码的蛋白质是一种跨膜受体,可介导脑组织中甲状腺激素的钠非依赖性摄取。这种蛋白质对甲状腺激素甲状腺素、三碘甲腺原氨酸和反向三碘甲腺原氨酸具有特别高的亲和力。编码这种蛋白质的基因的多态性可能与患有甲状腺功能亢进症的患者的疲劳和抑郁有关。可变剪接导致多个转录本变体。[RefSeq 提供,2009 年 3 月]

This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid Hormones in brain tissues. This protein has particularly high affinity for the thyroid Hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

SLCO1C1 基因产物(4)

mRNA Protein Name
NM_001145944.2 NP_001139416.1 solute carrier organic anion transporter family member 1C1 isoform 4
NM_001145945.2 NP_001139417.1 solute carrier organic anion transporter family member 1C1 isoform 3
NM_001145946.2 NP_001139418.1 solute carrier organic anion transporter family member 1C1 isoform 1
NM_017435.5 NP_059131.1 solute carrier organic anion transporter family member 1C1 isoform 2

SLCO1C1 蛋白结构

OATP

OATP: Organic Anion Transporter Polypeptide (OATP) family (43 - 639)

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (482 - 523)

  • 0
  • 200
  • 400
  • 600
  • 712 a.a.
蛋白主名 其他名称

solute carrier organic anion transporter family member 1C1

OAT-RP-5

关联疾病

疾病名称 别名
Allan-Herndon-Dudley Syndrome

AHDS

Allan-Herndon Syndrome

Monocarboxylate Transporter 8 Deficiency

MCT8 DEFICIENCY

Mental Retardation, X-Linked, With Hypotonia

Triiodothyronine Resistance

T3 Resistance

Mental Retardation And Muscular Atrophy

Mct8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency

Intellectual Disability And Muscular Atrophy

Monocarboxylate Transporter-8 Deficiency

T3 Resisitence

Triiodothyronine Resistence

X-Linked Intellectual Disability With Hypotonia

Mct8 -Specific Thyroid Hormone Cell Transporter Deficiency

Monocarboxylate Transporter 8 Deficiency

X-Linked Intellectual Disability-Hypotonia Syndrome

Deafness, Autosomal Recessive 62

DFNB62

Autosomal Recessive Nonsyndromic Deafness 62

Autosomal Recessive Deafness 62

Hyperthyroidism

Overactive Thyroid

Congenital Hypothyroidism

Cretinism

Neonatal Hypothyroidism

Ch

Cht

Congenital Myxedema

Myxedema, Congenital

Endemic Cretinism

Congenital Iodine-Deficiency Syndrome

Fetal Iodine Deficiency Syndrome

Congenital Iodine-Deficiency Hypothyroidism Nos

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
Canis familiaris SLCO1C1 VGNC VGNC:46494
Macaca mulatta SLCO1C1 VGNC VGNC:77697
Felis catus SLCO1C1 VGNC VGNC:65443
Rattus norvegicus SLCO1C1 RGD RGD:628660
Mus musculus SLCO1C1 MGD MGI:1889679
Bos taurus SLCO1C1 VGNC VGNC:34950