2. Gene
  3. SEM1 - SEM1 26S proteasome subunit Gene

SEM1 - SEM1 26S proteasome subunit Gene

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

中文名称：SEM1 26S 蛋白酶体亚基

种属: Homo sapiens

同用名: ECD; DSS1; SHFD1; SHFM1; SHSF1; PSMD15; Shfdg1; C7orf76

基因 ID: 7979 | 基因类型: protein coding

关于 SEM1

Cytogenetic location: 7q21.3 Genomic coordinates (GRCh38): 7:96,481,626-96,709,846 (from NCBI)

This gene has 24 transcripts (splice variants), 155 orthologues and is associated with 1 phenotype. Ubiquitous expression in liver (RPKM 89.9), colon (RPKM 83.9) and 25 other tissues.

功能概要

该基因的产物已定位于 7 号染色体上的裂手/裂足畸形基因座 SHFM1。已提出它是异质肢体发育障碍裂手/裂足畸形 1 型的常染色体显性形式的候选基因. 此外，它已被证明可以直接与 BRCA2 相互作用。它还可能在细胞周期的完成中发挥作用。[RefSeq 提供，2008 年 7 月]

The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]

SEM1 基因产物(10)

mRNA Protein Name
NM_001393898.1 NP_001380827.1 26S proteasome complex subunit SEM1 isoform a
NM_001393899.1 NP_001380828.1 26S proteasome complex subunit SEM1 isoform a
NM_001393900.1 NP_001380829.1 26S proteasome complex subunit SEM1 isoform b
NM_001393901.1 NP_001380830.1 26S proteasome complex subunit SEM1 isoform d
NM_001393902.1 NP_001380831.1 26S proteasome complex subunit SEM1 isoform e
NM_001393903.1 NP_001380832.1 26S proteasome complex subunit SEM1 isoform f
NM_001393904.1 NP_001380833.1 26S proteasome complex subunit SEM1 isoform g
NM_001393905.1 NP_001380834.1 26S proteasome complex subunit SEM1 isoform h
NM_001393906.1 NP_001380835.1 26S proteasome complex subunit SEM1 isoform i
NM_006304.2 NP_006295.1 26S proteasome complex subunit SEM1 isoform c

SEM1 蛋白结构

DSS1_SEM1

DSS1_SEM1: DSS1/SEM1 family (4 - 63)

  • 0
  • 70 a.a.
蛋白主名 其他名称

26S proteasome complex subunit SEM1

26S proteasome complex subunit DSS1

关联疾病

疾病名称 别名
Split Hand-Foot Malformation

Ectrodactyly

Split-Hand/Foot Malformation

Lobster-Claw Deformity

Split-Hand Deformity

Split Hand Foot Malformation

Shfm

Split Hand Foot Deformity

Split Hand Foot Deformity 1
Isolated Split Hand-Split Foot Malformation

Ectrodactyly

Shfm

Split Hand Foot Malformation

Split-Hand/Foot Malformation

Split Hand Foot Deformity 1

Split Hand Foot Deformity
Split-Hand/Foot Malformation 4

SHFM4

Split Hand-Foot Malformation 4

Split-Hand/Foot Malformation, Type 4
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive

Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss

SHFM1D

Deafness, Congenital, With Split Hands And Feet

Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss

Congenital Deafness With Split Hands And Feet

Split Hand-Split Foot-Deafness Syndrome

Split Hand-Split Foot-Hearing Loss Syndrome

Congenital Deafness And Split Hands And Feet

Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss

Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Split-Hand/Foot Malformation 3

SHFM3

Split Hand-Foot Malformation 3

Chromosome 10q24 Duplication Syndrome

Shsf3

Limb Deficiencies, Distal, With Micrognathia

Split-Hand/Foot Malformation 3, Gene Duplication Syndrome

Distal Limb Deficiencies With Micrognathia

Limb Deficiencies Distal With Micrognathia

Buttiens Fryns Syndrome

Distal Limb Deficiencies-Micrognathia Syndrome

10q24 Microduplication Syndrome

Buttiens-Fryns Syndrome

Split-Hand/Foot Malformation, Type 3, Gene Duplication Syndrome
Orofacial Cleft 4

OFC4

Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 4

Nonsyndromic Cleft Lip With Or Without Cleft Palate 4
Citrullinemia, Type Ii, Neonatal-Onset

NICCD

Citrin Deficiency

Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency

Citrullinemia, Type Ii, Neonatal-Onset, With Or Without Failure To Thrive And Dyslipidemia

Cholestasis, Neonatal Intrahepatic, Caused By Citrin Deficiency

Neonatal-Onset Type Ii Citrullinemia

Neonatal Intrahepatic Cholestasis Caused By Citrin Deficiency

Neonatal-Onset Citrullinemia Type 2

Neonatal-Onset Citrullinemia Type Ii

Neonatal-Onset Type 2 Citrullinemia

Adult-Onset Citrullinemia Type 2
Split-Hand/Foot Malformation 5

Split Hand-Foot Malformation 5

SHFM5
Split-Hand/Foot Malformation 1

Ectrodactyly

Split Hand-Foot Malformation 1

SHFM1

Shfd1

Split-Hand Deformity

Split-Hand/Foot Malformation 1 With Or Without Deafness

Split-Hand/Foot Deformity 1

Ecd

Split Hand/Foot Malformation Type 1

Split Hand Foot Deformity 1

Split-Hand/Foot Malformation
Paranoid Personality Disorder
Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc
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
Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia
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-RS12649 SEM1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus SEM1 MGD MGI:109238
Rattus norvegicus SEM1 RGD RGD:1590628
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