2. Gene
  3. SPECC1 - sperm antigen with calponin homology and coiled-coil domains 1 Gene

SPECC1 - sperm antigen with calponin homology and coiled-coil domains 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：具有钙调蛋白同源性和卷曲螺旋结构域 1 的精子抗原

种属: Homo sapiens

同用名: NSP; NSP5; CYTSB; HCMOGT1; HCMOGT-1

基因 ID: 92521 | 基因类型: protein coding

关于 SPECC1

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:20,009,359-20,319,026 (from NCBI)

This gene has 51 transcripts (splice variants), 215 orthologues, 1 paralogue and is associated with 86 phenotypes. Broad expression in brain (RPKM 6.4), testis (RPKM 6.0) and 23 other tissues.

功能概要

该基因编码的蛋白质属于 cytospin-A 家族。它定位于细胞核，并在睾丸和一些癌细胞系中高表达。涉及该基因和血小板衍生生长因子受体 β 基因 (PDGFRB) 的染色体易位可能是幼年型粒单核细胞白血病的病因。已经针对该基因描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2011 年 8 月]

The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some Cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

SPECC1 基因产物(15)

mRNA Protein Name
NM_001033553.3 NP_001028725.1 cytospin-B isoform 1
NM_001033554.3 NP_001028726.1 cytospin-B isoform 4
NM_001033555.3 NP_001028727.1 cytospin-B isoform 2
NM_001243438.2 NP_001230367.1 cytospin-B isoform 5
NM_001243439.2 NP_001230368.1 cytospin-B isoform 1
NM_001386077.2 NP_001373006.1 cytospin-B isoform 6
NM_001386078.2 NP_001373007.1 cytospin-B isoform 7
NM_001386079.1 NP_001373008.1 cytospin-B isoform 8
NM_001386080.1 NP_001373009.1 cytospin-B isoform 9
NM_001386081.1 NP_001373010.1 cytospin-B isoform 10
NM_001386082.1 NP_001373011.1 cytospin-B isoform 11
NM_001386083.2 NP_001373012.2 cytospin-B isoform 1
NM_001386084.1 NP_001373013.1 cytospin-B isoform 13
NM_001386085.1 NP_001373014.1 cytospin-B isoform 14
NM_152904.4 NP_690868.3 cytospin-B isoform 3

SPECC1 蛋白结构

CH

CH: Calponin homology (CH) domain (965 - 1067)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1068 a.a.
蛋白主名 其他名称

cytospin-B

cytokinesis and spindle organization B

关联疾病

疾病名称 别名
Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic

JMML

Leukemia, Juvenile Myelomonocytic, Somatic

Juvenile Chronic Myelomonocytic Leukemia

Juvenile Chronic Myelogenous Leukemia

Leukemia, Myelomonocytic, Juvenile

Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
Blue Toe Syndrome
Pontocerebellar Hypoplasia, Type 12

PCH12

Pontocerebellar Hypoplasia Type 12

Coasy-Related Pontocerebellar Hypoplasia

Pontocerebellar Hypoplasia 12

Doid:0112327

Hypoplasia, Pontocerebellar, Type 12
Noonan Syndrome 7

NS7

Noonan Syndrome, Type 7
Acute Diarrhea
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13655 SPECC1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS13656 SPECC1L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus SPECC1 VGNC VGNC:65630
Bos taurus SPECC1 VGNC VGNC:35200
Rattus norvegicus SPECC1 RGD RGD:1309718
Canis familiaris SPECC1 VGNC VGNC:46729
Macaca mulatta SPECC1 VGNC VGNC:78021
Mus musculus SPECC1 MGD MGI:2442356
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