2. Gene
  3. PREB - prolactin regulatory element binding Gene

PREB - prolactin regulatory element binding Gene

  • 基因
  • 蛋白
  • 疾病
  • 直系同源

中文名称：催乳素调节元件结合

种属: Homo sapiens

同用名: SEC12

基因 ID: 10113 | 基因类型: protein coding

关于 PREB

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,130,756-27,134,636 (from NCBI)

This gene has 9 transcripts (splice variants) and 205 orthologues. Ubiquitous expression in ovary (RPKM 22.2), fat (RPKM 20.3) and 25 other tissues.

功能概要

该基因编码的蛋白质特异性结合催乳素 (PRL) 启动子的 Pit1 结合元件。这种蛋白质可能充当转录调节因子，并被认为与在部分 2p 三体综合征患者中观察到的一些发育异常有关。该基因与相对链上含有 1 (ABHD1) 基因的脱氢酶结构域重叠。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein that specifically binds to a Pit1-binding element of the Prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]

PREB 基因产物(5)

mRNA Protein Name
NM_001330484.2 NP_001317413.1 prolactin regulatory element-binding protein isoform 2
NM_001330485.2 NP_001317414.1 prolactin regulatory element-binding protein isoform 3
NM_001330486.2 NP_001317415.1 prolactin regulatory element-binding protein isoform 4
NM_001330487.2 NP_001317416.1 prolactin regulatory element-binding protein isoform 5
NM_013388.6 NP_037520.1 prolactin regulatory element-binding protein isoform 1

PREB 蛋白结构

WD40

WD40: WD domain, G-beta repeat (160 - 182)

WD40

WD40: WD domain, G-beta repeat (188 - 222)

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

prolactin regulatory element-binding protein

mammalian guanine nucleotide exchange factor mSec12

关联疾病

疾病名称 别名
Craniolenticulosutural Dysplasia

Boyadjiev-Jabs Syndrome

CLSD

Cranio-Lenticulo-Sutural Dysplasia

Cranio-Lenticulo-Sutural Dysplasia, Clsd
Chylomicron Retention Disease

CMRD

Anderson Disease

Lipid Transport Defect Of Intestine

Hypobetalipoproteinemia With Accumulation Of Apolipoprotein B-Like Protein In Intestinal Cells

Andd

Anderson Syndrome

Crd

Andersons Disease

Malabsorption Syndrome
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
Mus musculus PREB MGD MGI:1355326
Bos taurus PREB VGNC VGNC:33305
Felis catus PREB VGNC VGNC:69039
Canis familiaris PREB VGNC VGNC:44954
Macaca mulatta PREB VGNC VGNC:103847
Rattus norvegicus PREB RGD RGD:61929