1. Gene
  2. HNRNPAB - heterogeneous nuclear ribonucleoprotein A/B Gene

HNRNPAB - heterogeneous nuclear ribonucleoprotein A/B Gene

中文名称:异质核核糖核蛋白 A/B

种属: Homo sapiens

同用名: ABBP1; HNRPAB

基因 ID: 3182 | 基因类型: protein coding

关于 HNRNPAB

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:178,204,533-178,211,163 (from NCBI)

This gene has 8 transcripts (splice variants), 286 orthologues and 36 paralogues. Ubiquitous expression in colon (RPKM 79.0), appendix (RPKM 50.6) and 25 other tissues.

功能概要

该基因属于普遍表达的异质核核糖核蛋白 (hnRNP) 亚家族。 hnRNPs 由 RNA 聚合酶 II 产生,是异质核 RNA (hnRNA) 复合物的组成部分。它们与细胞核中的前体 mRNA 相关,并且似乎影响前体 mRNA 加工以及 mRNA 代谢和运输的其他方面。虽然所有的 hnRNP 都存在于细胞核中,但有些似乎在细胞核和细胞质之间穿梭。 hnRNP 蛋白具有独特的核酸结合特性。由该基因编码的蛋白质与多蛋白编辑体复合物的一种成分结合,具有两个重复的与 RNA 结合的准 RRM (RNA 识别基序) 结构域。已针对该基因描述了编码不同同种型的两种可变剪接转录物变体。[RefSeq 提供,2008 年 7 月]

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are produced by RNA polymerase II and are components of the heterogeneous nuclear RNA (hnRNA) complexes. They are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene, which binds to one of the components of the multiprotein editosome complex, has two repeats of quasi-RRM (RNA recognition motif) domains that bind to RNAs. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

HNRNPAB 基因产物(2)

mRNA Protein Name
NM_004499.4 NP_004490.2 heterogeneous nuclear ribonucleoprotein A/B isoform b
NM_031266.3 NP_112556.2 heterogeneous nuclear ribonucleoprotein A/B isoform a

HNRNPAB 蛋白结构

CBFNT

CBFNT: CBFNT (NUC161) domain (1 - 71)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (73 - 140)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (156 - 224)

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  • 332 a.a.
蛋白主名 其他名称

heterogeneous nuclear ribonucleoprotein A/B

ABBP-1

关联疾病

疾病名称 别名
Oculopharyngeal Muscular Dystrophy

OPMD

Muscular Dystrophy, Oculopharyngeal

Dystrophy, Oculopharyngeal Muscular

Oculopharyngeal Dystrophy

Progressive Muscular Dystrophy, Oculopharyngeal Type

Muscular Dystrophy Oculopharyngeal

Dystrophy, Muscular, Oculopharyngeal

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

Hay-Wells Syndrome

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome

Aec Syndrome

AEC

Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome

Seres-Santamaria Arimany Muniz Syndrome

Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects

Ankyloblepharon Ectodermal Defects Cleft Lip/Palate

Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate

Rapp-Hodgkin Syndrome

Dihydropyrimidine Dehydrogenase Deficiency

Dpd Deficiency

Familial Pyrimidinemia

Hereditary Thymine-Uraciluria

Dihydropyrimidinuria

Dpyd Deficiency

Thymine-Uraciluria, Hereditary

Pyrimidinemia, Familial

5-Fluorouracil Toxicity

Dihydrouracil Dehydrogenase Deficiency

Familial Pyrimidinaemia

Thymine-Uracilurea

Familial Pyrimidemia

Pyrimidinemia Familial

DPYDD

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
Rattus norvegicus HNRNPAB RGD RGD:69255
Bos taurus HNRNPAB VGNC VGNC:52241
Canis familiaris HNRNPAB VGNC VGNC:56067
Mus musculus HNRNPAB MGD MGI:1330294
Macaca mulatta HNRNPAB VGNC VGNC:73495
Felis catus HNRNPAB VGNC VGNC:102225