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SMARCAD1

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

SMARCAD1

Identifiers

Aliases

SMARCAD1, ADERM, ETL1, HEL1, SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1, BASNS, HRZ

External IDs

OMIM:612761;MGI:95453;HomoloGene:5301;GeneCards:SMARCAD1;OMA:SMARCAD1 - orthologs

Gene location (Human)

Chr.	Chromosome 4 (human)^[1]

Band	4q22.3	Start	94,207,611bp^[1]
Band	4q22.3	End	94,291,292bp^[1]

Gene location (Mouse)

Chr.	Chromosome 6 (mouse)^[2]

Band	6 C1\|6 30.11 cM	Start	65,019,567bp^[2]
Band	6 C1\|6 30.11 cM	End	65,093,045bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

ganglionic eminence

tibia

secondary oocyte

pancreatic epithelial cell

ventricular zone

Achilles tendon

testicle

skin of thigh

visceral pleura

parietal pleura

Top expressed in

genital tubercle

morula

tail of embryo

ganglionic eminence

ventricular zone

medial ganglionic eminence

blastocyst

superior cervical ganglion

zygote

abdominal wall

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	DNA binding nucleotide binding helicase activity protein binding nucleic acid binding hydrolase activity ATP binding chromatin binding ATP-dependent activity, acting on DNA
Cellular component	site of double-strand break nuclear matrix nuclear replication fork nucleoplasm chromosome heterochromatin nucleus
Biological process	regulation of DNA recombination histone H3 deacetylation chromatin remodeling DNA double-strand break processing nucleotide metabolic process cellular response to DNA damage stimulus positive regulation of transcription, DNA-templated chromosome separation histone H4 deacetylation protein homooligomerization DNA repair chromatin organization
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


56916


13990

Ensembl


ENSG00000163104


ENSMUSG00000029920

UniProt


Q9H4L7


Q04692

RefSeq (mRNA)


NM_001128429 NM_001128430 NM_001254949 NM_020159


NM_001253392 NM_007958 NM_001355248 NM_001355249 NM_001355250

RefSeq (protein)

NP_001121901 NP_001121902 NP_001241878 NP_064544 NP_001362784
NP_001362785 NP_001362786 NP_001362787 NP_001362788


NP_001240321 NP_031984 NP_001342177 NP_001342178 NP_001342179

Location (UCSC)

Chr 4: 94.21 – 94.29 Mb

Chr 6: 65.02 – 65.09 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 is aprotein that in humans is encoded by theSMARCAD1gene.^[5]^[6]

Proper expression of SMARCAD1 may be important tofingerprint development,^[7] and the disruption of its expression is believed to causeadermatoglyphia, the absence of fingerprints.

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000163104 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000029920 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Adra CN, Donato JL, Badovinac R, Syed F, Kheraj R, Cai H, Moran C, Kolker MT, Turner H, Weremowicz S, Shirakawa T, Morton CC, Schnipper LE, Drews R (Jan 2001). "SMARCAD1, a novel human helicase family-defining member associated with genetic instability: cloning, expression, and mapping to 4q22-q23, a band rich in breakpoints and deletion mutants involved in several human diseases".Genomics.69 (2):162–73.doi:10.1006/geno.2000.6281.PMID 11031099.
^"Entrez Gene: SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1".
^"The Mystery of the Missing Fingerprints".

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References

Further reading