KEGG T01001: 70

Homo sapiens (human): 70

Entry

70 CDS T01001

Gene name

ACTC1, ACTC, ASD5, CMD1R, CMH11, LVNC4

Definition

actin, alpha, cardiac muscle 1

Orthology

K12314

actin, alpha cardiac muscle

Organism

hsa Homo sapiens (human)

Pathway

hsa04260	Cardiac muscle contraction
hsa05410	Hypertrophic cardiomyopathy (HCM)
hsa05414	Dilated cardiomyopathy

Disease

H00292	Hypertrophic cardiomyopathy (HCM)
H00294	Dilated cardiomyopathy (DCM)
H00546	Atrial septal defect
H01216	Left ventricular noncompaction (LVNC)
H01219	Restrictive cardiomyopathy (RCM)

Class

Organismal Systems; Circulatory system; Cardiac muscle contraction [PATH:hsa04260]
Human Diseases; Cardiovascular diseases; Hypertrophic cardiomyopathy (HCM) [PATH:hsa05410]
Human Diseases; Cardiovascular diseases; Dilated cardiomyopathy (DCM) [PATH:hsa05414]

SSDB

Motif

Pfam:

Actin ESSS

Other DBs

NCBI-GI:

4885049

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

15q14

AA seq 377 aa
MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
LSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIS
KQEYDEAGPSIVHRKCF

NT seq 1134 nt +upstreamnt +downstreamnt
atgtgtgacgacgaggagaccaccgccctggtgtgcgacaacggctctgggctggtgaag
gccggctttgcgggcgatgacgcgccccgcgctgtcttcccgtccatcgtgggccgcccg
cggcaccagggagttatggtgggtatgggtcagaaggactcctacgtaggtgatgaagcc
cagagcaagagaggcatcctgaccctgaagtatcccatcgagcatggtatcatcaccaac
tgggacgacatggagaagatctggcaccacaccttctacaatgagctccgtgtggctccc
gaggagcaccccaccctgctcacagaggccccgctgaaccccaaggccaaccgggagaag
atgactcagatcatgtttgagaccttcaatgtccctgccatgtacgtggccatccaggca
gtgctatccctgtatgcttctggccgtaccacaggcattgttctggactctggggatggt
gtaactcacaatgtccccatctatgagggctacgctttgccccatgccatcatgcgtctg
gatctggctggtcgggacctcactgactacctcatgaagatcctcactgagcgtggctac
tcctttgtcaccactgctgaacgtgaaattgtccgtgacattaaagagaagctgtgctat
gtcgccctggattttgagaatgagatggccacagctgcctcttcctcctccctggagaag
agctatgaactgcctgatggccaagtcatcactattggcaatgagcgcttccgctgtcct
gagacactcttccagccctccttcattggtatggaatctgctggcatccatgaaacaact
tacaatagcatcatgaagtgtgacattgatatccgcaaggacctgtatgccaacaatgtc
ttatctggaggcaccactatgtaccctggtattgctgatcgtatgcagaaggaaatcact
gctctggctcctagcaccatgaagattaagattattgctccccctgagcgtaaatactct
gtctggattgggggctccatcctggcctctctgtccaccttccagcaaatgtggattagc
aagcaagagtacgatgaggcaggcccatccattgtccaccgcaaatgcttctaa

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (10)   
   KEGG DISEASE (5)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (7)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (2)   
   RefSeq(pep) (1)   
DNA sequence (23)   
   RefSeq(nuc) (1)   
   GenBank (11)   
   EMBL (11)   
Protein domain (2)   
   Pfam (2)   
All databases (58)   

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