2. Gene
  3. SMOC1 - SPARC related modular calcium binding 1 Gene

SMOC1 - SPARC related modular calcium binding 1 Gene

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

中文名称：SPARC 相关模块化钙结合 1

种属: Homo sapiens

同用名: OAS

基因 ID: 64093 | 基因类型: protein coding

关于 SMOC1

Cytogenetic location: 14q24.2 Genomic coordinates (GRCh38): 14:69,879,416-70,032,366 (from NCBI)

This gene has 5 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 4 phenotypes. Biased expression in brain (RPKM 47.3), testis (RPKM 23.8) and 6 other tissues.

功能概要

该基因编码一种多域分泌蛋白，可能在眼部和肢体发育中起关键作用。该基因的突变与小眼畸形和肢体异常有关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 3 月]

This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

SMOC1 基因产物(2)

mRNA Protein Name
NM_001034852.3 NP_001030024.1 SPARC-related modular calcium-binding protein 1 isoform 1 precursor
NM_022137.6 NP_071420.1 SPARC-related modular calcium-binding protein 1 isoform 2 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
23088713 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in eye development IMP
IMP: 通过突变表型推断
21194678 GOA
involved in limb development IMP
IMP: 通过突变表型推断
21194678 GOA
involved in regulation of osteoblast differentiation IMP
IMP: 通过突变表型推断
20359165 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SMOC1 蛋白结构

Kazal_2

Kazal_2: Kazal-type serine protease inhibitor domain (47 - 87)

Thyroglobulin_1

Thyroglobulin_1: Thyroglobulin type-1 repeat (95 - 158)

Thyroglobulin_1

Thyroglobulin_1: Thyroglobulin type-1 repeat (227 - 292)

SPARC_Ca_bdg

SPARC_Ca_bdg: Secreted protein acidic and rich in cysteine Ca binding region (315 - 424)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 434 a.a.
蛋白主名 其他名称

SPARC-related modular calcium-binding protein 1

secreted modular calcium-binding protein 1

SMOC1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SMOC1 Q9H4F8 KRTAP10-8 Homo sapiens P60410
Validated Y2H
25416956
种属内
SMOC1 Q9H4F8 KRTAP10-8 Homo sapiens P60410
Y2H Array
25416956
种属内
SMOC1 Q9H4F8 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
25416956
种属间
SMOC1 Q9H4F8 Hoxa1 Mus musculus P09022
Pull Down
23088713
种属内
SMOC1 Q9H4F8 TCF4 Homo sapiens P15884
Y2H Array
25416956
种属内
SMOC1 Q9H4F8 NOTCH2NLA Homo sapiens Q7Z3S9
Y2H Array
31515488
种属内
SMOC1 Q9H4F8 NOTCH2NLA Homo sapiens Q7Z3S9
Y2H Prey Pooling
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SMOC1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76649 SMOC1 Protein, Human (HEK293, His) Q9H4F8-2/NP_001030024.1 (H27-V435) ≥95%

关联疾病

疾病名称 别名
Microphthalmia With Limb Anomalies

Waardenburg Anophthalmia Syndrome

Ophthalmoacromelic Syndrome

OAS

MLA

Anophthalmia-Syndactyly

Anophthalmia-Syndactyly Syndrome

Anophthalmos With Limb Anomalies

Anophthalmia Waardenburg Syndrome

Anophthalmos-Syndactyly

Ophthalmo-Acromelic Syndrome

Anophthalmia-Waardenburg Syndrome

Anophthalmos-Limb Anomalies Syndrome

Syndactyly-Anophthalmos Syndrome

Microphthalmia, With Limb Anomalies
Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye
Microphthalmia, Syndromic 3

MCOPS3

Aeg Syndrome

Microphthalmia And Esophageal Atresia Syndrome

Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome

Anophthalmia-Esophageal-Genital Syndrome

Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System

Syndromic Microphthalmia 3

Sox2 Anophthalmia Syndrome

Anophthalmia Clinical With Associated Anomalies

Anophthalmia Esophageal Genital Syndrome

Anophthalmia Microphthalmia Esophageal Atresia

Syndromic Microphthalmia Type 3

Sox2-Related Eye Disorders

Anophthalmia, Clinical, With Associated Anomalies

Syndromic Microphthalmia, Type 3

Microphthalmia, Syndromic, 3

Anophthalmia/Microphthalmia-Esophageal Atresia

Microphthalmia Syndromic, Type 3
Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma
Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS13444 SMOC1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SMOC1 RGD RGD:1303126
Felis catus SMOC1 VGNC VGNC:65498
Macaca mulatta SMOC1 VGNC VGNC:77745
Mus musculus SMOC1 MGD MGI:1929878
Canis familiaris SMOC1 VGNC VGNC:46566
Bos taurus SMOC1 VGNC VGNC:35026
Others SMOC1 NCBI
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