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  2. NARF - nuclear prelamin A recognition factor Gene

NARF - nuclear prelamin A recognition factor Gene

中文名称:核 prelamin A 识别因子

种属: Homo sapiens

同用名: IOP2

基因 ID: 26502 | 基因类型: protein coding

关于 NARF

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:82,458,198-82,490,537 (from NCBI)

This gene has 26 transcripts (splice variants), 215 orthologues and 2 paralogues. Ubiquitous expression in bone marrow (RPKM 13.2), testis (RPKM 12.0) and 25 other tissues.

功能概要

已发现几种蛋白质在其羧基末端被异戊二烯化和甲基化。最初认为异戊二烯化仅对膜附着很重要。然而,异戊二烯化的另一个作用似乎是它在蛋白质-蛋白质相互作用中的重要性。已知在哺乳动物细胞中被异戊二烯化的唯一核蛋白是前核纤层蛋白 A 型和 B 型核纤层蛋白。 Prelamin A 在羧基末端 CaaX 基序的半胱氨酸残基上被法尼基化和羧甲基化。这种翻译后修饰的半胱氨酸残基在内切蛋白水解加工成成熟的核纤层蛋白 A 时从 prelamin A 中去除。该基因编码的蛋白质与异戊二烯化的 prelamin A 羧基末端尾域结合。它可能是 prelamin A 内切蛋白酶复合物的成分。编码的蛋白质位于细胞核中,在那里它与核层部分共定位。它与仅含铁的细菌氢化酶具有有限的序列相似性。已经为该基因鉴定了编码不同亚型的可变剪接转录物变体,包括一个具有通过 RNA 编辑产生的新外显子的变体。[RefSeq 提供,2008 年 7 月]

Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only Bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008]

NARF 基因产物(4)

mRNA Protein Name
NM_001038618.3 NP_001033707.1 nuclear prelamin A recognition factor isoform c
NM_001083608.2 NP_001077077.1 nuclear prelamin A recognition factor isoform d
NM_012336.4 NP_036468.1 nuclear prelamin A recognition factor isoform a
NM_031968.2 NP_114174.1 nuclear prelamin A recognition factor isoform b

NARF 蛋白结构

Fe_hyd_lg_C

Fe_hyd_lg_C: Iron only hydrogenase large subunit, C-terminal domain (93 - 384)

Fe_hyd_SSU

Fe_hyd_SSU: Iron hydrogenase small subunit (392 - 445)

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  • 456 a.a.
蛋白主名 其他名称

nuclear prelamin A recognition factor

iron-only hydrogenase-like protein 2

关联疾病

疾病名称 别名
Acute Retrobulbar Neuritis

Retrobulbar Neuritis

Retrobulbar Optic Neuritis

Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension

Small Patella Syndrome

Ischiopatellar Dysplasia

Coxopodopatellar Syndrome

Scott-Taor Syndrome

Sps

Ischiocoxopodopatellar Syndrome

Patella Aplasia, Coxa Vara, And Tarsal Synostosis

ICPPS

Congenital Coxa Vara, Patella Aplasia And Tarsal Synostosis

Coxo-Podo-Patellar Syndrome

Patella Aplasia, Coxa Vara, Tarsal Synostosis

Coxopodipatellar Syndrome

Dyschromatosis Symmetrica Hereditaria

Dyschromatosis Symmetrica Hereditaria 1

Reticulate Acropigmentation Of Dohi

DSH

Dsh1

Symmetric Dyschromatosis Of The Extremities

Rad

Familial Reticulate Acropigmentation Of Dohi

Acropigmentation Of Dohi

Symmetrical Dyschromatosis Of Extremities

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
Bos taurus NARF VGNC VGNC:55858
Felis catus NARF VGNC VGNC:63724
Macaca mulatta NARF VGNC VGNC:75054
Mus musculus NARF MGD MGI:1914858
Rattus norvegicus NARF RGD RGD:1310894
Canis familiaris NARF VGNC VGNC:59395