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  2. SRSF1 - serine and arginine rich splicing factor 1 Gene

SRSF1 - serine and arginine rich splicing factor 1 Gene

中文名称:富丝氨酸和精氨酸的剪接因子 1

种属: Homo sapiens

同用名: ASF; SF2; SFRS1; SF2p33; SRp30a

基因 ID: 6426 | 基因类型: protein coding

关于 SRSF1

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:57,989,038-58,007,246 (from NCBI)

This gene has 9 transcripts (splice variants), 239 orthologues, 8 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 44.8), appendix (RPKM 40.8) and 25 other tissues.

功能概要

该基因编码富含精氨酸/丝氨酸的剪接因子蛋白家族的成员。编码的蛋白质可以激活或抑制剪接,具体取决于其磷酸化状态及其相互作用伙伴。已发现该基因的多个转录变体。该基因在 13 号染色体上有一个假基因。[RefSeq 提供,2014 年 6 月]

This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014]

SRSF1 基因产物(2)

mRNA Protein Name
NM_001078166.2 NP_001071634.1 serine/arginine-rich splicing factor 1 isoform 2
NM_006924.5 NP_008855.1 serine/arginine-rich splicing factor 1 isoform 1

SRSF1 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (18 - 85)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (123 - 184)

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

serine/arginine-rich splicing factor 1

SR splicing factor 1

重组 SRSF1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P700524 SRSF1 Protein, Human (His-SUMO) Q07955 (S2-T248) ≥95%

关联疾病

疾病名称 别名
Homocystinuria

Cystathionine Beta Synthase Deficiency

Homocysteinemia

Cbs Deficiency

Cystathionine Synthase Deficiency

Cystathionine Beta-Synthase Deficiency Disease

Retinal Melanoma

Malignant Retinal Melanoma

Malignant Melanoma Of Retina

Xeroderma Pigmentosum, Complementation Group D

Xeroderma Pigmentosum, Group D

Xpdc

Xeroderma Pigmentosum Iv

XPD

Xeroderma Pigmentosum Group D

Xeroderma Pigmentosum Viii

Xp Group D

Xp Group H

Xp4

Xp8

Xph

Xp, Group D

Xp4 Xeroderma Pigmentosum Viii, Formerly

Xp8, Formerly

Xp, Group H, Formerly

Xph, Formerly

Xeroderma Pigmentosum Complementation Group D

XP-D

Xp-D/Cs

Unilateral Focal Polymicrogyria
Deafness, Autosomal Recessive 110

DFNB110

Autosomal Recessive Nonsyndromic Deafness 110

Autosomal Recessive Deafness 110

Deafness, Autosomal Recessive, 110

Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes

Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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 SRSF1 VGNC VGNC:99464
Mus musculus SRSF1 MGD MGI:98283
Canis familiaris SRSF1 VGNC VGNC:46816
Rattus norvegicus SRSF1 RGD RGD:1587490
Bos taurus SRSF1 VGNC VGNC:35297
Others SRSF1 NCBI