SMC1A

GENERAL INFORMATION

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Gene name

SMC1A

Gene description

Structural maintenance of chromosomes 1A

Protein class

Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Nuclear expression in most tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA005499 , CAB025404
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Urinary bladder

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

SMC1A (HGNC Symbol)

Synonyms

DXS423E, KIAA0178, SB1.8, SMC1L1, Smcb

Description

Structural maintenance of chromosomes 1A (HGNC Symbol)

Entrez gene summary

Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

Chromosome

X

Cytoband

p11.22

Chromosome location (bp)

53374149 - 53422728

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000072501 (version 78.38)

Entrez gene

8243

UniProt

Q14683 (UniProt - Evidence at protein level)

neXtProt

NX_Q14683

Antibodypedia

SMC1A antibodies


PROTEIN BROWSER

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ENST00000322213
 
ENST00000375340
 
ENST00000428014
 
ENST00000470241
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SMC1A-001 ENSP00000323421
ENST00000322213
Q14683
Show all »
Show » Show » 1233 143.2 No 0
SMC1A-003 ENSP00000413509
ENST00000428014
H0Y7K8
Show all »
Show » Show » 262 30.5 No 0
SMC1A-005 ENSP00000476416
ENST00000470241
Show » 279 31.4 No 0
SMC1A-201 ENSP00000364489
ENST00000375340
H0Y7K8
Show all »
Show » Show » 1211 140.9 No 0