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SMARCAD1

GENERAL INFORMATION

Gene name

 SMARCAD1

Gene description

 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General nuclear expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA016737
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Esophagus

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 SMARCAD1 (HGNC Symbol)

Synonyms

 DKFZP762K2015, ETL1, KIAA1122

Description

 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Chromosome

 4

Cytoband

 q22.3

Chromosome location (bp)

 94207611 - 94291292

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000163104 (version 83.38)

Entrez gene

 56916

UniProt

 Q9H4L7 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9H4L7

Antibodypedia

 SMARCAD1 antibodies

PROTEIN BROWSER
SMARCAD1-001
SMARCAD1-002
SMARCAD1-005
SMARCAD1-006

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SMARCAD1-001
ENSP00000415576
ENST00000457823
Q9H4L7 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000018 [regulation of DNA recombination]
GO:0000729 [DNA double-strand break processing]
GO:0000792 [heterochromatin]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0009117 [nucleotide metabolic process]
GO:0016363 [nuclear matrix]
GO:0016568 [chromatin modification]
GO:0035861 [site of double-strand break]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043596 [nuclear replication fork]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0051260 [protein homooligomerization]
GO:0051304 [chromosome separation]
GO:0070932 [histone H3 deacetylation]
GO:0070933 [histone H4 deacetylation]
Show all
 1028 aa
117.6 kDa 		No 0
SMARCAD1-002
ENSP00000346217
ENST00000354268
Q9H4L7 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000018 [regulation of DNA recombination]
GO:0000729 [DNA double-strand break processing]
GO:0000792 [heterochromatin]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0009117 [nucleotide metabolic process]
GO:0016363 [nuclear matrix]
GO:0016568 [chromatin modification]
GO:0035861 [site of double-strand break]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043596 [nuclear replication fork]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0051260 [protein homooligomerization]
GO:0051304 [chromosome separation]
GO:0070932 [histone H3 deacetylation]
GO:0070933 [histone H4 deacetylation]
Show all
 1026 aa
117.4 kDa 		No 0
SMARCAD1-005
ENSP00000351947
ENST00000359052
Q9H4L7 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000018 [regulation of DNA recombination]
GO:0000729 [DNA double-strand break processing]
GO:0000792 [heterochromatin]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0009117 [nucleotide metabolic process]
GO:0016363 [nuclear matrix]
GO:0016568 [chromatin modification]
GO:0035861 [site of double-strand break]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043596 [nuclear replication fork]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0051260 [protein homooligomerization]
GO:0051304 [chromosome separation]
GO:0070932 [histone H3 deacetylation]
GO:0070933 [histone H4 deacetylation]
Show all
 1028 aa
117.6 kDa 		No 0
SMARCAD1-006
ENSP00000423286
ENST00000509418
Q9H4L7 [Direct mapping]
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000018 [regulation of DNA recombination]
GO:0000729 [DNA double-strand break processing]
GO:0000792 [heterochromatin]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0004386 [helicase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0006338 [chromatin remodeling]
GO:0009117 [nucleotide metabolic process]
GO:0016363 [nuclear matrix]
GO:0016568 [chromatin modification]
GO:0035861 [site of double-strand break]
GO:0043044 [ATP-dependent chromatin remodeling]
GO:0043596 [nuclear replication fork]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0051260 [protein homooligomerization]
GO:0051304 [chromosome separation]
GO:0070932 [histone H3 deacetylation]
GO:0070933 [histone H4 deacetylation]
Show all
 596 aa
68.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.